Neonatal Medicine

Drawing from clinical images, researchers trained an artificial intelligence (AI) algorithm to diagnose infantile hemangiomas with an overall accuracy of 91.7%, a proof-of-concept study reported.

Early diagnosis of infantile hemangiomas “is essential, as there is a narrow window of opportunity to treat high-risk lesions,” April J. Zhang, MD, and coauthors noted in the study. “AI algorithms optimized for image classification through use of convolutional neural networks have been widely utilized to classify lesions in which images are readily standardized, such as skin cancers and onychomycosis.”

The results were published in Pediatric Dermatology.

Dr. Zhang, of the department of dermatology at the Medical College of Wisconsin, Milwaukee, and colleagues trained a convoluted neural network to diagnose infantile hemangiomas based on clinical images from pediatric dermatology patients treated at Children’s Wisconsin between 2002 and 2019.

They used Microsoft’s ResNet-50, a publicly available network architecture, to train a binary infantile hemangioma classifier to group images as infantile hemangiomas or non–infantile hemangiomas. The team randomly split data from the model into training, validation, and test groups.

The preliminary data set contained 14,811 images, about half of which were facial lesions. The training group of images achieved an accuracy of 61.5%. Next, Dr. Zhang and colleagues limited the data set to facial-only lesions and removed poor-quality images, which left 5,834 images in the final data set: 4,110 infantile hemangiomas and 1,724 non–infantile hemangiomas. This model achieved an overall accuracy of 91.7%, with a sensitivity of 93% and a specificity of 90.5%.

“Our study is the first to demonstrate the applicability of AI in the pediatric dermatology population,” the authors wrote. “With current nationwide shortages in pediatric dermatologists, AI has the potential to improve patient access and outcomes through enhanced rapid diagnostic capabilities.”

They acknowledged certain limitations of the study, including a data set with greater numbers of infantile hemangiomas, compared with non–infantile hemangiomas.

“Random oversampling of the non–infantile hemangioma data set was used to combat this but may lead to model overfitting, where a model performs well on its training data but is unable to generalize to new data,” they wrote. “As infantile hemangiomas are rarely biopsied, expert clinical diagnoses were used as the gold standard without pathologic confirmation.”

The authors reported having no financial disclosures.

Drawing from clinical images, researchers trained an artificial intelligence (AI) algorithm to diagnose infantile hemangiomas with an overall accuracy of 91.7%, a proof-of-concept study reported.

Early diagnosis of infantile hemangiomas “is essential, as there is a narrow window of opportunity to treat high-risk lesions,” April J. Zhang, MD, and coauthors noted in the study. “AI algorithms optimized for image classification through use of convolutional neural networks have been widely utilized to classify lesions in which images are readily standardized, such as skin cancers and onychomycosis.”

The results were published in Pediatric Dermatology.

Dr. Zhang, of the department of dermatology at the Medical College of Wisconsin, Milwaukee, and colleagues trained a convoluted neural network to diagnose infantile hemangiomas based on clinical images from pediatric dermatology patients treated at Children’s Wisconsin between 2002 and 2019.

They used Microsoft’s ResNet-50, a publicly available network architecture, to train a binary infantile hemangioma classifier to group images as infantile hemangiomas or non–infantile hemangiomas. The team randomly split data from the model into training, validation, and test groups.

The preliminary data set contained 14,811 images, about half of which were facial lesions. The training group of images achieved an accuracy of 61.5%. Next, Dr. Zhang and colleagues limited the data set to facial-only lesions and removed poor-quality images, which left 5,834 images in the final data set: 4,110 infantile hemangiomas and 1,724 non–infantile hemangiomas. This model achieved an overall accuracy of 91.7%, with a sensitivity of 93% and a specificity of 90.5%.

“Our study is the first to demonstrate the applicability of AI in the pediatric dermatology population,” the authors wrote. “With current nationwide shortages in pediatric dermatologists, AI has the potential to improve patient access and outcomes through enhanced rapid diagnostic capabilities.”

They acknowledged certain limitations of the study, including a data set with greater numbers of infantile hemangiomas, compared with non–infantile hemangiomas.

“Random oversampling of the non–infantile hemangioma data set was used to combat this but may lead to model overfitting, where a model performs well on its training data but is unable to generalize to new data,” they wrote. “As infantile hemangiomas are rarely biopsied, expert clinical diagnoses were used as the gold standard without pathologic confirmation.”

The authors reported having no financial disclosures.

Drawing from clinical images, researchers trained an artificial intelligence (AI) algorithm to diagnose infantile hemangiomas with an overall accuracy of 91.7%, a proof-of-concept study reported.

Early diagnosis of infantile hemangiomas “is essential, as there is a narrow window of opportunity to treat high-risk lesions,” April J. Zhang, MD, and coauthors noted in the study. “AI algorithms optimized for image classification through use of convolutional neural networks have been widely utilized to classify lesions in which images are readily standardized, such as skin cancers and onychomycosis.”

The results were published in Pediatric Dermatology.

Dr. Zhang, of the department of dermatology at the Medical College of Wisconsin, Milwaukee, and colleagues trained a convoluted neural network to diagnose infantile hemangiomas based on clinical images from pediatric dermatology patients treated at Children’s Wisconsin between 2002 and 2019.

They used Microsoft’s ResNet-50, a publicly available network architecture, to train a binary infantile hemangioma classifier to group images as infantile hemangiomas or non–infantile hemangiomas. The team randomly split data from the model into training, validation, and test groups.

The preliminary data set contained 14,811 images, about half of which were facial lesions. The training group of images achieved an accuracy of 61.5%. Next, Dr. Zhang and colleagues limited the data set to facial-only lesions and removed poor-quality images, which left 5,834 images in the final data set: 4,110 infantile hemangiomas and 1,724 non–infantile hemangiomas. This model achieved an overall accuracy of 91.7%, with a sensitivity of 93% and a specificity of 90.5%.

“Our study is the first to demonstrate the applicability of AI in the pediatric dermatology population,” the authors wrote. “With current nationwide shortages in pediatric dermatologists, AI has the potential to improve patient access and outcomes through enhanced rapid diagnostic capabilities.”

They acknowledged certain limitations of the study, including a data set with greater numbers of infantile hemangiomas, compared with non–infantile hemangiomas.

“Random oversampling of the non–infantile hemangioma data set was used to combat this but may lead to model overfitting, where a model performs well on its training data but is unable to generalize to new data,” they wrote. “As infantile hemangiomas are rarely biopsied, expert clinical diagnoses were used as the gold standard without pathologic confirmation.”

The authors reported having no financial disclosures.

Updated clinical guidelines for the early diagnosis and management of cerebral palsy have been issued by the American Academy of Pediatrics.

Coauthored with the American Academy for Cerebral Palsy and Developmental Medicine, the report builds on new evidence for improved care and outcomes since the 2006 consensus guidelines.

Cerebral palsy, the most common neuromotor disorder of childhood, is often accompanied by cognitive impairments, epilepsy, sensory impairments, behavioral problems, communication difficulties, breathing and sleep problems, gastrointestinal and nutritional problems, and bone and orthopedic problems.

In the United States, the estimated prevalence of cerebral palsy ranges from 1.5 to 4 per 1,000 live births.

“Early identification and initiation of evidence-based motor therapies can improve outcomes by taking advantage of the neuroplasticity in the infant brain,” said the guideline authors in an executive summary.

The guideline, published in Pediatrics, is directed to primary care physicians with pediatrics, family practice, or internal medicine training. “It’s a much more comprehensive overview of the important role that primary care providers play in the lifetime care of people with cerebral palsy,” explained Garey Noritz, MD, chair of the 2021-2022 Executive Committee of the Council on Children with Disabilities. Dr. Noritz, a professor of pediatrics at Ohio State University and division chief of the complex health care program at Nationwide Children’s Hospital, both in Columbus, said: “The combined efforts of the primary care physician and specialty providers are needed to achieve the best outcomes.”

The AAP recommends that primary care pediatricians, neonatologists, and other specialists caring for hospitalized newborns recognize those at high risk of cerebral palsy, diagnose them as early as possible, and promptly refer them for therapy. Primary care physicians are advised to identify motor delays early by formalizing standardized developmental surveillance and screening at 9, 18, and 30 months, and to implement family-centered care across multiple specialists.

“If a motor disorder is suspected, primary care physicians should simultaneously begin a medical evaluation, refer to a specialist for definitive diagnosis, and to therapists for treatment,” Dr. Noritz emphasized.

“The earlier any possible movement disorder is recognized and intervention begins, the better a child can develop a gait pattern and work toward living an independent life, said Manish N. Shah, MD, associate professor of pediatric neurosurgery at the University of Texas, Houston, who was not involved in developing the guidelines.

For children in whom physical therapy and medication have not reduced leg spasticity, a minimally invasive spinal procedure can help release contracted tendons and encourage independent walking. The optimal age for selective dorsal rhizotomy is about 4 years, said Dr. Shah, who is director of the Texas Comprehensive Spasticity Center at Children’s Memorial Hermann Hospital in Houston. “You can turn these children into walkers. As adults, they can get jobs, have their own families. It’s life-changing.”

Importantly, the guidelines address the health care disparities leading to a higher prevalence of cerebral palsy in Black children and in those from families with lower socioeconomic status. “Efforts to combat racism and eliminate barriers to culturally sensitive prenatal, perinatal, and later pediatric care may help to improve outcomes for all children with cerebral palsy,” the authors said.

“Every child with cerebral palsy needs an individual plan, but only 30% or 40% are getting interventions,” said Dr. Shah. The updated guidelines could help payers rethink the 15-20 visits a year that are often approved, compared with the 2-3 visits per week that are needed for speech, physical, and occupational therapy, he pointed out.

“Financial issues often compromise the interdisciplinary and coordinated care associated with favorable outcomes in children with cerebral palsy,” said Heidi Feldman, MD, PhD, a developmental and behavioral pediatric specialist at Stanford (Calif.) Medicine Children’s Health’s Johnson Center for Pregnancy and Newborn Services. “With a new guideline, there may be greater willingness to fund these essential services.”

In the meantime, the AAP recommends that pediatricians advise families about available medical, social, and educational services, such as early intervention services, the Title V Maternal and Child Health block grant program, and special education services through the public school system.

Children with cerebral palsy need the same standardized primary care as any child, including the full schedule of recommended vaccinations and vision and hearing testing. They also need to be monitored and treated for the many problems that commonly co-occur, including chronic pain.

When secondary complications arise, the frequency of visits should increase.

Pneumonia, the leading cause of death in children and adolescents with cerebral palsy, can be prevented or minimized through immunization against respiratory diseases and screening for signs and symptoms of aspiration and sleep-disordered breathing.

The AAP also recommends that symptoms or functional declines undergo full investigation into other potential causes.

Since the sedentary lifestyle associated with cerebral palsy is now known to be related to the higher rates of cardiovascular complications in this patient population, the AAP recommends more attention be paid to physical activity and a healthy diet early in life. Pediatricians are advised to help families locate suitable opportunities for adaptive sports and recreation.

Almost 50% of children and adolescents with cerebral palsy have intellectual disability, 60%-80% have difficulty speaking, and about 25% are nonverbal. To address this, pediatricians should maximize the use of augmentative and alternative communication devices and involve experts in speech and language pathology, according to the guidelines.

“Many individuals with cerebral palsy and severe motor limitations have active, creative minds, and may need assistive technology, such as electronic talking devices, to demonstrate that mental life,” said Dr. Feldman. “Primary care clinicians should advocate for assistive technology.”

For challenging behavior, especially in the patient with limited verbal skills, potential nonbehavioral culprits such as constipation, esophageal reflux disease, and musculoskeletal or dental pain must be ruled out.

In the lead-up to adolescence, youth with cerebral palsy must be prepared for puberty, menstruation, and healthy, safe sexual relationships, much like their nonaffected peers. Since a disproportionate number of children with cerebral palsy experience neglect and physical, sexual, and emotional abuse, however, family stressors should be identified and caregivers referred for support services.

For the transition from pediatric to adult health care, the AAP recommends that structured planning begin between 12 and 14 years of age. Before transfer, the pediatrician should prepare a comprehensive medical summary with the input of the patient, parent/guardian, and pediatric subspecialists.

Without a proper handoff, “there is an increased risk of morbidity, medical complications, unnecessary emergency department visits, hospitalizations, and procedures,” the authors warned.

Transitions are likely to run more smoothly when youth are given the opportunity to understand their medical condition and be involved in decisions about their health. With this in mind, the AAP recommends that pediatricians actively discourage overprotective parents from getting in the way of their child developing “maximal independence.”

No potential conflicts of interest were disclosed by the authors, Dr. Shah, or Dr. Feldman.

*This story was updated on Nov. 28, 2022.
 

Updated clinical guidelines for the early diagnosis and management of cerebral palsy have been issued by the American Academy of Pediatrics.

Coauthored with the American Academy for Cerebral Palsy and Developmental Medicine, the report builds on new evidence for improved care and outcomes since the 2006 consensus guidelines.

Cerebral palsy, the most common neuromotor disorder of childhood, is often accompanied by cognitive impairments, epilepsy, sensory impairments, behavioral problems, communication difficulties, breathing and sleep problems, gastrointestinal and nutritional problems, and bone and orthopedic problems.

In the United States, the estimated prevalence of cerebral palsy ranges from 1.5 to 4 per 1,000 live births.

“Early identification and initiation of evidence-based motor therapies can improve outcomes by taking advantage of the neuroplasticity in the infant brain,” said the guideline authors in an executive summary.

The guideline, published in Pediatrics, is directed to primary care physicians with pediatrics, family practice, or internal medicine training. “It’s a much more comprehensive overview of the important role that primary care providers play in the lifetime care of people with cerebral palsy,” explained Garey Noritz, MD, chair of the 2021-2022 Executive Committee of the Council on Children with Disabilities. Dr. Noritz, a professor of pediatrics at Ohio State University and division chief of the complex health care program at Nationwide Children’s Hospital, both in Columbus, said: “The combined efforts of the primary care physician and specialty providers are needed to achieve the best outcomes.”

The AAP recommends that primary care pediatricians, neonatologists, and other specialists caring for hospitalized newborns recognize those at high risk of cerebral palsy, diagnose them as early as possible, and promptly refer them for therapy. Primary care physicians are advised to identify motor delays early by formalizing standardized developmental surveillance and screening at 9, 18, and 30 months, and to implement family-centered care across multiple specialists.

“If a motor disorder is suspected, primary care physicians should simultaneously begin a medical evaluation, refer to a specialist for definitive diagnosis, and to therapists for treatment,” Dr. Noritz emphasized.

“The earlier any possible movement disorder is recognized and intervention begins, the better a child can develop a gait pattern and work toward living an independent life, said Manish N. Shah, MD, associate professor of pediatric neurosurgery at the University of Texas, Houston, who was not involved in developing the guidelines.

For children in whom physical therapy and medication have not reduced leg spasticity, a minimally invasive spinal procedure can help release contracted tendons and encourage independent walking. The optimal age for selective dorsal rhizotomy is about 4 years, said Dr. Shah, who is director of the Texas Comprehensive Spasticity Center at Children’s Memorial Hermann Hospital in Houston. “You can turn these children into walkers. As adults, they can get jobs, have their own families. It’s life-changing.”

Importantly, the guidelines address the health care disparities leading to a higher prevalence of cerebral palsy in Black children and in those from families with lower socioeconomic status. “Efforts to combat racism and eliminate barriers to culturally sensitive prenatal, perinatal, and later pediatric care may help to improve outcomes for all children with cerebral palsy,” the authors said.

“Every child with cerebral palsy needs an individual plan, but only 30% or 40% are getting interventions,” said Dr. Shah. The updated guidelines could help payers rethink the 15-20 visits a year that are often approved, compared with the 2-3 visits per week that are needed for speech, physical, and occupational therapy, he pointed out.

“Financial issues often compromise the interdisciplinary and coordinated care associated with favorable outcomes in children with cerebral palsy,” said Heidi Feldman, MD, PhD, a developmental and behavioral pediatric specialist at Stanford (Calif.) Medicine Children’s Health’s Johnson Center for Pregnancy and Newborn Services. “With a new guideline, there may be greater willingness to fund these essential services.”

In the meantime, the AAP recommends that pediatricians advise families about available medical, social, and educational services, such as early intervention services, the Title V Maternal and Child Health block grant program, and special education services through the public school system.

Children with cerebral palsy need the same standardized primary care as any child, including the full schedule of recommended vaccinations and vision and hearing testing. They also need to be monitored and treated for the many problems that commonly co-occur, including chronic pain.

When secondary complications arise, the frequency of visits should increase.

Pneumonia, the leading cause of death in children and adolescents with cerebral palsy, can be prevented or minimized through immunization against respiratory diseases and screening for signs and symptoms of aspiration and sleep-disordered breathing.

The AAP also recommends that symptoms or functional declines undergo full investigation into other potential causes.

Since the sedentary lifestyle associated with cerebral palsy is now known to be related to the higher rates of cardiovascular complications in this patient population, the AAP recommends more attention be paid to physical activity and a healthy diet early in life. Pediatricians are advised to help families locate suitable opportunities for adaptive sports and recreation.

Almost 50% of children and adolescents with cerebral palsy have intellectual disability, 60%-80% have difficulty speaking, and about 25% are nonverbal. To address this, pediatricians should maximize the use of augmentative and alternative communication devices and involve experts in speech and language pathology, according to the guidelines.

“Many individuals with cerebral palsy and severe motor limitations have active, creative minds, and may need assistive technology, such as electronic talking devices, to demonstrate that mental life,” said Dr. Feldman. “Primary care clinicians should advocate for assistive technology.”

For challenging behavior, especially in the patient with limited verbal skills, potential nonbehavioral culprits such as constipation, esophageal reflux disease, and musculoskeletal or dental pain must be ruled out.

In the lead-up to adolescence, youth with cerebral palsy must be prepared for puberty, menstruation, and healthy, safe sexual relationships, much like their nonaffected peers. Since a disproportionate number of children with cerebral palsy experience neglect and physical, sexual, and emotional abuse, however, family stressors should be identified and caregivers referred for support services.

For the transition from pediatric to adult health care, the AAP recommends that structured planning begin between 12 and 14 years of age. Before transfer, the pediatrician should prepare a comprehensive medical summary with the input of the patient, parent/guardian, and pediatric subspecialists.

Without a proper handoff, “there is an increased risk of morbidity, medical complications, unnecessary emergency department visits, hospitalizations, and procedures,” the authors warned.

Transitions are likely to run more smoothly when youth are given the opportunity to understand their medical condition and be involved in decisions about their health. With this in mind, the AAP recommends that pediatricians actively discourage overprotective parents from getting in the way of their child developing “maximal independence.”

No potential conflicts of interest were disclosed by the authors, Dr. Shah, or Dr. Feldman.

*This story was updated on Nov. 28, 2022.
 

Updated clinical guidelines for the early diagnosis and management of cerebral palsy have been issued by the American Academy of Pediatrics.

Coauthored with the American Academy for Cerebral Palsy and Developmental Medicine, the report builds on new evidence for improved care and outcomes since the 2006 consensus guidelines.

Cerebral palsy, the most common neuromotor disorder of childhood, is often accompanied by cognitive impairments, epilepsy, sensory impairments, behavioral problems, communication difficulties, breathing and sleep problems, gastrointestinal and nutritional problems, and bone and orthopedic problems.

In the United States, the estimated prevalence of cerebral palsy ranges from 1.5 to 4 per 1,000 live births.

“Early identification and initiation of evidence-based motor therapies can improve outcomes by taking advantage of the neuroplasticity in the infant brain,” said the guideline authors in an executive summary.

The guideline, published in Pediatrics, is directed to primary care physicians with pediatrics, family practice, or internal medicine training. “It’s a much more comprehensive overview of the important role that primary care providers play in the lifetime care of people with cerebral palsy,” explained Garey Noritz, MD, chair of the 2021-2022 Executive Committee of the Council on Children with Disabilities. Dr. Noritz, a professor of pediatrics at Ohio State University and division chief of the complex health care program at Nationwide Children’s Hospital, both in Columbus, said: “The combined efforts of the primary care physician and specialty providers are needed to achieve the best outcomes.”

The AAP recommends that primary care pediatricians, neonatologists, and other specialists caring for hospitalized newborns recognize those at high risk of cerebral palsy, diagnose them as early as possible, and promptly refer them for therapy. Primary care physicians are advised to identify motor delays early by formalizing standardized developmental surveillance and screening at 9, 18, and 30 months, and to implement family-centered care across multiple specialists.

“If a motor disorder is suspected, primary care physicians should simultaneously begin a medical evaluation, refer to a specialist for definitive diagnosis, and to therapists for treatment,” Dr. Noritz emphasized.

“The earlier any possible movement disorder is recognized and intervention begins, the better a child can develop a gait pattern and work toward living an independent life, said Manish N. Shah, MD, associate professor of pediatric neurosurgery at the University of Texas, Houston, who was not involved in developing the guidelines.

For children in whom physical therapy and medication have not reduced leg spasticity, a minimally invasive spinal procedure can help release contracted tendons and encourage independent walking. The optimal age for selective dorsal rhizotomy is about 4 years, said Dr. Shah, who is director of the Texas Comprehensive Spasticity Center at Children’s Memorial Hermann Hospital in Houston. “You can turn these children into walkers. As adults, they can get jobs, have their own families. It’s life-changing.”

Importantly, the guidelines address the health care disparities leading to a higher prevalence of cerebral palsy in Black children and in those from families with lower socioeconomic status. “Efforts to combat racism and eliminate barriers to culturally sensitive prenatal, perinatal, and later pediatric care may help to improve outcomes for all children with cerebral palsy,” the authors said.

“Every child with cerebral palsy needs an individual plan, but only 30% or 40% are getting interventions,” said Dr. Shah. The updated guidelines could help payers rethink the 15-20 visits a year that are often approved, compared with the 2-3 visits per week that are needed for speech, physical, and occupational therapy, he pointed out.

“Financial issues often compromise the interdisciplinary and coordinated care associated with favorable outcomes in children with cerebral palsy,” said Heidi Feldman, MD, PhD, a developmental and behavioral pediatric specialist at Stanford (Calif.) Medicine Children’s Health’s Johnson Center for Pregnancy and Newborn Services. “With a new guideline, there may be greater willingness to fund these essential services.”

In the meantime, the AAP recommends that pediatricians advise families about available medical, social, and educational services, such as early intervention services, the Title V Maternal and Child Health block grant program, and special education services through the public school system.

Children with cerebral palsy need the same standardized primary care as any child, including the full schedule of recommended vaccinations and vision and hearing testing. They also need to be monitored and treated for the many problems that commonly co-occur, including chronic pain.

When secondary complications arise, the frequency of visits should increase.

Pneumonia, the leading cause of death in children and adolescents with cerebral palsy, can be prevented or minimized through immunization against respiratory diseases and screening for signs and symptoms of aspiration and sleep-disordered breathing.

The AAP also recommends that symptoms or functional declines undergo full investigation into other potential causes.

Since the sedentary lifestyle associated with cerebral palsy is now known to be related to the higher rates of cardiovascular complications in this patient population, the AAP recommends more attention be paid to physical activity and a healthy diet early in life. Pediatricians are advised to help families locate suitable opportunities for adaptive sports and recreation.

Almost 50% of children and adolescents with cerebral palsy have intellectual disability, 60%-80% have difficulty speaking, and about 25% are nonverbal. To address this, pediatricians should maximize the use of augmentative and alternative communication devices and involve experts in speech and language pathology, according to the guidelines.

“Many individuals with cerebral palsy and severe motor limitations have active, creative minds, and may need assistive technology, such as electronic talking devices, to demonstrate that mental life,” said Dr. Feldman. “Primary care clinicians should advocate for assistive technology.”

For challenging behavior, especially in the patient with limited verbal skills, potential nonbehavioral culprits such as constipation, esophageal reflux disease, and musculoskeletal or dental pain must be ruled out.

In the lead-up to adolescence, youth with cerebral palsy must be prepared for puberty, menstruation, and healthy, safe sexual relationships, much like their nonaffected peers. Since a disproportionate number of children with cerebral palsy experience neglect and physical, sexual, and emotional abuse, however, family stressors should be identified and caregivers referred for support services.

For the transition from pediatric to adult health care, the AAP recommends that structured planning begin between 12 and 14 years of age. Before transfer, the pediatrician should prepare a comprehensive medical summary with the input of the patient, parent/guardian, and pediatric subspecialists.

Without a proper handoff, “there is an increased risk of morbidity, medical complications, unnecessary emergency department visits, hospitalizations, and procedures,” the authors warned.

Transitions are likely to run more smoothly when youth are given the opportunity to understand their medical condition and be involved in decisions about their health. With this in mind, the AAP recommends that pediatricians actively discourage overprotective parents from getting in the way of their child developing “maximal independence.”

No potential conflicts of interest were disclosed by the authors, Dr. Shah, or Dr. Feldman.

*This story was updated on Nov. 28, 2022.
 

Recent findings from a study examining mothers’ recall of doctors’ advice on early-child nutrition suggest that key feeding messages may not be heard, remembered, or even delivered.

During a typical child wellness visit, pediatricians provide parents with anticipatory guidance on all aspects of child development and safety, up to the age of 5 years.

The analysis of data from a subset of 1,302 mothers participating in the 2017-2019 National Survey of Family Growth showed that those older than 31 years of age and those who identified as non-Hispanic White were more likely to recall discussion of certain child nutrition topics compared with younger mothers or those who identified as Hispanic.

Of the six child-feeding topics referenced from the American Academy of Pediatrics’ “Bright Futures Guidelines,” less than half of the mothers, all of whom had a child between the ages of 6 months and 5 years, recalled guidance on limiting meals in front of the television or other electronic devices. Similarly, fewer than 50% remembered being told not to force their child to finish a bottle or food, the analysis showed.

When it came to the best time to introduce solid foods, 37% didn’t recall being told to wait at least 4 months and preferably, 6 months. In fact, these mothers reported being advised to introduce solid foods before 6 months, said Andrea McGowan, MPH, of the National Center for Chronic Disease Prevention and Health Promotion, U.S. Centers for Disease Control and Prevention, Atlanta, and colleagues.

The study was published in the Journal of Nutrition Education and Behavior.

“All in all, this research draws attention to certain nutrition guidance topics or subpopulations that might be prioritized to improve receipt and recall of guidance,” said Ms. McGowan, now a first-year medical student at the University of Michigan, Ann Arbor, in a podcast. “This research ... implores us to consider ways to revamp the existing standard practice for pediatric well-child care to improve recall of messages.”

The analysis also included data on mothers’ recall of advice on offering foods with different tastes and textures; offering a variety of fruits and vegetables; and limiting added sugar. More than half of mothers remembered discussing four or five child nutrition topics, but 31% recalled talking about only one or two. Offering a variety of fruits and vegetables had the highest percentage of recall.

The study wasn’t powered to determine whether the nutrition guidance provided at a well-child visit was not remembered or not provided, Ms. McGowan said, adding: “So exploring this is definitely the goal of future research.”

However, pediatricians report spending an average of 18 minutes with children and their parents, she noted. “This is definitely not enough time to cover every single topic a pediatrician or a parent might want to discuss.” Other barriers, such as a lack of insurance or transportation, may limit parents’ access to this kind of anticipatory guidance, the researchers said.

Priority should be given to certain topics and to certain mothers, they suggested. “Innovative strategies tailored to families’ needs might alleviate the HCP [health care provider] burden and could enhance parental recall, especially when messaging is culturally relevant and personalized,” Ms. McGowan said.

Two independent experts agreed in interviews. Pediatricians must do their best to tailor advice to each particular family so that parents can engage in the conversation, said Lauren Fiechtner, MD, director of the center for pediatric nutrition at Mass General for Children, Boston. “As the authors suggest, we should seek to understand the cultural relevance of our recommendations and to understand the barriers our patient families might face in implementing our advice,” said Dr. Fiechtner, who is also an assistant professor at Harvard Medical School, also in Boston.

“Much of the instructions we as pediatricians give to parents must be repeated and reinforced,” said Rebecca S. Fisk, MD, a pediatrician at Lenox Hill Hospital, Northwell Health, in New York. Often, the doctor’s advice runs counter to what family and friends recommend, she pointed out. Some parents may believe that “the baby who starts solid food earlier will sleep through the night earlier or that eating in front of the TV relaxes the child or allows them to eat more,” Dr. Fisk explained. In her practice, a nurse goes over her instructions, answers questions, and provides specific examples and written information.

Sometimes, even that’s not enough, Dr. Fisk admitted. “I, myself, have fielded many repeated questions about feeding, when to start, how much to give, and so on, despite printed guidance given to parents at well-child visits.”

This study was funded by the U.S. Centers for Disease Control and Prevention. Ms. McGowan and study coauthors reported having no potential conflicts of interest. Dr. Fiechtner and Dr. Fisk disclosed having no potential conflicts of interest.
 

Recent findings from a study examining mothers’ recall of doctors’ advice on early-child nutrition suggest that key feeding messages may not be heard, remembered, or even delivered.

During a typical child wellness visit, pediatricians provide parents with anticipatory guidance on all aspects of child development and safety, up to the age of 5 years.

The analysis of data from a subset of 1,302 mothers participating in the 2017-2019 National Survey of Family Growth showed that those older than 31 years of age and those who identified as non-Hispanic White were more likely to recall discussion of certain child nutrition topics compared with younger mothers or those who identified as Hispanic.

Of the six child-feeding topics referenced from the American Academy of Pediatrics’ “Bright Futures Guidelines,” less than half of the mothers, all of whom had a child between the ages of 6 months and 5 years, recalled guidance on limiting meals in front of the television or other electronic devices. Similarly, fewer than 50% remembered being told not to force their child to finish a bottle or food, the analysis showed.

When it came to the best time to introduce solid foods, 37% didn’t recall being told to wait at least 4 months and preferably, 6 months. In fact, these mothers reported being advised to introduce solid foods before 6 months, said Andrea McGowan, MPH, of the National Center for Chronic Disease Prevention and Health Promotion, U.S. Centers for Disease Control and Prevention, Atlanta, and colleagues.

The study was published in the Journal of Nutrition Education and Behavior.

“All in all, this research draws attention to certain nutrition guidance topics or subpopulations that might be prioritized to improve receipt and recall of guidance,” said Ms. McGowan, now a first-year medical student at the University of Michigan, Ann Arbor, in a podcast. “This research ... implores us to consider ways to revamp the existing standard practice for pediatric well-child care to improve recall of messages.”

The analysis also included data on mothers’ recall of advice on offering foods with different tastes and textures; offering a variety of fruits and vegetables; and limiting added sugar. More than half of mothers remembered discussing four or five child nutrition topics, but 31% recalled talking about only one or two. Offering a variety of fruits and vegetables had the highest percentage of recall.

The study wasn’t powered to determine whether the nutrition guidance provided at a well-child visit was not remembered or not provided, Ms. McGowan said, adding: “So exploring this is definitely the goal of future research.”

However, pediatricians report spending an average of 18 minutes with children and their parents, she noted. “This is definitely not enough time to cover every single topic a pediatrician or a parent might want to discuss.” Other barriers, such as a lack of insurance or transportation, may limit parents’ access to this kind of anticipatory guidance, the researchers said.

Priority should be given to certain topics and to certain mothers, they suggested. “Innovative strategies tailored to families’ needs might alleviate the HCP [health care provider] burden and could enhance parental recall, especially when messaging is culturally relevant and personalized,” Ms. McGowan said.

Two independent experts agreed in interviews. Pediatricians must do their best to tailor advice to each particular family so that parents can engage in the conversation, said Lauren Fiechtner, MD, director of the center for pediatric nutrition at Mass General for Children, Boston. “As the authors suggest, we should seek to understand the cultural relevance of our recommendations and to understand the barriers our patient families might face in implementing our advice,” said Dr. Fiechtner, who is also an assistant professor at Harvard Medical School, also in Boston.

“Much of the instructions we as pediatricians give to parents must be repeated and reinforced,” said Rebecca S. Fisk, MD, a pediatrician at Lenox Hill Hospital, Northwell Health, in New York. Often, the doctor’s advice runs counter to what family and friends recommend, she pointed out. Some parents may believe that “the baby who starts solid food earlier will sleep through the night earlier or that eating in front of the TV relaxes the child or allows them to eat more,” Dr. Fisk explained. In her practice, a nurse goes over her instructions, answers questions, and provides specific examples and written information.

Sometimes, even that’s not enough, Dr. Fisk admitted. “I, myself, have fielded many repeated questions about feeding, when to start, how much to give, and so on, despite printed guidance given to parents at well-child visits.”

This study was funded by the U.S. Centers for Disease Control and Prevention. Ms. McGowan and study coauthors reported having no potential conflicts of interest. Dr. Fiechtner and Dr. Fisk disclosed having no potential conflicts of interest.
 

Recent findings from a study examining mothers’ recall of doctors’ advice on early-child nutrition suggest that key feeding messages may not be heard, remembered, or even delivered.

During a typical child wellness visit, pediatricians provide parents with anticipatory guidance on all aspects of child development and safety, up to the age of 5 years.

The analysis of data from a subset of 1,302 mothers participating in the 2017-2019 National Survey of Family Growth showed that those older than 31 years of age and those who identified as non-Hispanic White were more likely to recall discussion of certain child nutrition topics compared with younger mothers or those who identified as Hispanic.

Of the six child-feeding topics referenced from the American Academy of Pediatrics’ “Bright Futures Guidelines,” less than half of the mothers, all of whom had a child between the ages of 6 months and 5 years, recalled guidance on limiting meals in front of the television or other electronic devices. Similarly, fewer than 50% remembered being told not to force their child to finish a bottle or food, the analysis showed.

When it came to the best time to introduce solid foods, 37% didn’t recall being told to wait at least 4 months and preferably, 6 months. In fact, these mothers reported being advised to introduce solid foods before 6 months, said Andrea McGowan, MPH, of the National Center for Chronic Disease Prevention and Health Promotion, U.S. Centers for Disease Control and Prevention, Atlanta, and colleagues.

The study was published in the Journal of Nutrition Education and Behavior.

“All in all, this research draws attention to certain nutrition guidance topics or subpopulations that might be prioritized to improve receipt and recall of guidance,” said Ms. McGowan, now a first-year medical student at the University of Michigan, Ann Arbor, in a podcast. “This research ... implores us to consider ways to revamp the existing standard practice for pediatric well-child care to improve recall of messages.”

The analysis also included data on mothers’ recall of advice on offering foods with different tastes and textures; offering a variety of fruits and vegetables; and limiting added sugar. More than half of mothers remembered discussing four or five child nutrition topics, but 31% recalled talking about only one or two. Offering a variety of fruits and vegetables had the highest percentage of recall.

The study wasn’t powered to determine whether the nutrition guidance provided at a well-child visit was not remembered or not provided, Ms. McGowan said, adding: “So exploring this is definitely the goal of future research.”

However, pediatricians report spending an average of 18 minutes with children and their parents, she noted. “This is definitely not enough time to cover every single topic a pediatrician or a parent might want to discuss.” Other barriers, such as a lack of insurance or transportation, may limit parents’ access to this kind of anticipatory guidance, the researchers said.

Priority should be given to certain topics and to certain mothers, they suggested. “Innovative strategies tailored to families’ needs might alleviate the HCP [health care provider] burden and could enhance parental recall, especially when messaging is culturally relevant and personalized,” Ms. McGowan said.

Two independent experts agreed in interviews. Pediatricians must do their best to tailor advice to each particular family so that parents can engage in the conversation, said Lauren Fiechtner, MD, director of the center for pediatric nutrition at Mass General for Children, Boston. “As the authors suggest, we should seek to understand the cultural relevance of our recommendations and to understand the barriers our patient families might face in implementing our advice,” said Dr. Fiechtner, who is also an assistant professor at Harvard Medical School, also in Boston.

“Much of the instructions we as pediatricians give to parents must be repeated and reinforced,” said Rebecca S. Fisk, MD, a pediatrician at Lenox Hill Hospital, Northwell Health, in New York. Often, the doctor’s advice runs counter to what family and friends recommend, she pointed out. Some parents may believe that “the baby who starts solid food earlier will sleep through the night earlier or that eating in front of the TV relaxes the child or allows them to eat more,” Dr. Fisk explained. In her practice, a nurse goes over her instructions, answers questions, and provides specific examples and written information.

Sometimes, even that’s not enough, Dr. Fisk admitted. “I, myself, have fielded many repeated questions about feeding, when to start, how much to give, and so on, despite printed guidance given to parents at well-child visits.”

This study was funded by the U.S. Centers for Disease Control and Prevention. Ms. McGowan and study coauthors reported having no potential conflicts of interest. Dr. Fiechtner and Dr. Fisk disclosed having no potential conflicts of interest.
 

INDIANAPOLIS – The way Maria C. Garzon, MD, sees it, capillary malformations are often misunderstood. She views them not as a single diagnosis but rather as a variety of conditions that fall under the term capillary malformation.

“The challenge is, we also use that term to describe a diagnosis,” Dr. Garzon, professor of dermatology and pediatrics at Columbia University, New York, said at the annual meeting of the Society for Pediatric Dermatology. “We have imperfect terminology. We use many different terms like capillary nevi and vascular stain. Instead of port wine stain, we now use the term port wine birthmark, and old terms like nevus flammeus are still used. This leads to diagnostic confusion, and it’s a barrier to developing care guidelines.”

Some capillary malformations, she noted, are benign and fade away while others can cause disfigurement or herald significant medical issues.

Histologically, she continued, not all capillary malformations are composed of capillaries. “Some are composed of postcapillary venules,” she said. “There are also mixed type capillary malformations that include lymphatic tissue, and the capillary malformation of capillary malformation-arteriovenous malformation (CM-AVM) syndrome shares histologic features of evolving AVMs as opposed to classic port wine birthmarks.”

The most recent International Society for the Study of Vascular Anomalies Classification of Vascular Anomalies was published in 2018 and is currently being updated. Other proposed clinical classifications have been published, including one that is diagnosis-specific and includes 20 different types of capillary malformations (J Eur Acad Dermatol Venereol. 2015 29[12]:2295-305, Pediatr Dermatol. 2016;33[6]:570-84).

“There are also syndromic classifications. Another question relates to the role of genomics: Are we ready for a classification that’s based purely on genetic variants, or do we need to incorporate it into existing classifications?” Dr. Garzon said. “Novel testing technologies using cell-free DNA and digital droplet PCR may be used in the future to establish diagnoses.” Genetic variants are found within capillary malformations, and they tend to be associated with three major pathways: the RAS-MAPK/ERK pathway, the PI3K/Akt/mTOR pathway, and the G protein pathway.

The type of capillary malformation that dermatologists and pediatricians most commonly see is nevus simplex, which occurs in 20%-82% of neonates. Other terms used include angel’s kiss, stork bite, salmon patch, nevus flammeus simplex, fading vascular stain, medial telangiectatic nevus, and butterfly mark. “It’s important to differentiate this from a port wine birthmark,” Dr. Garzon said. “This can be challenging when the birthmark is a darker red color. I have cared for patients who were initially thought to have nevus simplex and later found to have Sturge-Weber syndrome.”

Typical locations of nevus simplex include the central forehead/glabella, eyelids, the nape of the neck, scalp (parietal and occipital), nose, lip area (including philtrum), and the back (lumbosacral area and upper back). Most lesions fade/disappear without treatment (J Am Acad Dermatol. 2020;63[5]:805-14). Rare genetic syndromes associated with exaggerated nevus simplex complex include macrocephaly-capillary malformation syndrome and Beckwith-Wiedemann syndrome, “which tells us that this is a heterogeneous group of patients,” she said.

Dr. Garzon added that it’s “incredibly common” to see an eczema flare occurring within a nevus simplex on the nape of the neck. These patients will have a patch of atopic dermatitis that doesn’t get better. “Beneath it is their nevus simplex,” she said. “Remind parents that even after treating the eczema, the pink patch is not going to go away” (Pediatr Rep. 2021;13[1]:131-4).

Meanwhile, the classic port wine birthmark is usually congenital, uniform, and darker red in color. It darkens with maturity and the pattern will correlate with embryonic vasculature. “I am very wary of acquired port wine lesions,” she added. “It’s been described with trauma-related lesions, but early morphea can also mimic a port wine birthmark. You will see this if you’re practicing pediatric dermatology.”

Nearly a decade ago researchers established a link between port wine birthmarks and genetic variants in the GNAQ gene. “We see this in GNA11 as well,” Dr. Garzon said. “These changes are found in isolated port wine stains, and in Sturge-Weber syndrome. We now know that GNAQ drives the formation of large blood vessels through angiopoietin-2,” she noted (Arterioscler Throm Vasc Biol. 2022;42[1]:e27-43).

In general, studies that have examined genotype-phenotype correlations have demonstrated that the classic port wine birthmark is associated with GNAQ while GNA11 variants can be associated with a more reticulated pattern. “But this is not as clearcut as it seems,” she said. Investigators of a recent study showed an association between hypertension and renal anomalies in patients with skin capillary malformations and mosaic GNAQ or GNA11 variants. “This is a new finding,” she said. “Investigators are working to understand this association.”

Port wine birthmarks with the highest risk of Sturge-Weber syndrome include those that involve the forehead, upper eyelid, the midline frontonasal area, the hemifacial area, and median sites. “Patients who have this should be evaluated at birth,” Dr. Garzon said. “You should not delay for 2 months. They should be evaluated by ophthalmology and neurology early.”

The other morphologies commonly seen are “geographic” well-demarcated capillary malformations, which are dark in color. These lesions can be seen in conditions that are associated with genetic variants in PIK3CA (PROS) and include classic Klippel-Trenaunay syndrome, CLOVES (congenital lipomatous overgrowth, vascular malformations, epidermal nevi, scoliosis/skeletal and spinal) syndrome, and CLAPO (capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry of the face and limbs, and partial or generalized overgrowth) syndrome.

“Reticulated stains are much more heterogeneous,” Dr. Garzon said. “They can be localized or widespread. When you see a patient with a widespread reticulated capillary malformation, think about diffuse capillary malformation with overgrowth (DCMO). This condition is clinically and genetically heterogenous with the affected tissue of some patients showing variants in GNA11 while others have variants in PIK3CA. Therefore, a thorough examination at presentation and long-term follow-up is very important.”

Dr. Garzon disclosed that she is a member of the executive board for the International Society for the Study of Vascular Anomalies.

INDIANAPOLIS – The way Maria C. Garzon, MD, sees it, capillary malformations are often misunderstood. She views them not as a single diagnosis but rather as a variety of conditions that fall under the term capillary malformation.

“The challenge is, we also use that term to describe a diagnosis,” Dr. Garzon, professor of dermatology and pediatrics at Columbia University, New York, said at the annual meeting of the Society for Pediatric Dermatology. “We have imperfect terminology. We use many different terms like capillary nevi and vascular stain. Instead of port wine stain, we now use the term port wine birthmark, and old terms like nevus flammeus are still used. This leads to diagnostic confusion, and it’s a barrier to developing care guidelines.”

Some capillary malformations, she noted, are benign and fade away while others can cause disfigurement or herald significant medical issues.

Histologically, she continued, not all capillary malformations are composed of capillaries. “Some are composed of postcapillary venules,” she said. “There are also mixed type capillary malformations that include lymphatic tissue, and the capillary malformation of capillary malformation-arteriovenous malformation (CM-AVM) syndrome shares histologic features of evolving AVMs as opposed to classic port wine birthmarks.”

The most recent International Society for the Study of Vascular Anomalies Classification of Vascular Anomalies was published in 2018 and is currently being updated. Other proposed clinical classifications have been published, including one that is diagnosis-specific and includes 20 different types of capillary malformations (J Eur Acad Dermatol Venereol. 2015 29[12]:2295-305, Pediatr Dermatol. 2016;33[6]:570-84).

“There are also syndromic classifications. Another question relates to the role of genomics: Are we ready for a classification that’s based purely on genetic variants, or do we need to incorporate it into existing classifications?” Dr. Garzon said. “Novel testing technologies using cell-free DNA and digital droplet PCR may be used in the future to establish diagnoses.” Genetic variants are found within capillary malformations, and they tend to be associated with three major pathways: the RAS-MAPK/ERK pathway, the PI3K/Akt/mTOR pathway, and the G protein pathway.

The type of capillary malformation that dermatologists and pediatricians most commonly see is nevus simplex, which occurs in 20%-82% of neonates. Other terms used include angel’s kiss, stork bite, salmon patch, nevus flammeus simplex, fading vascular stain, medial telangiectatic nevus, and butterfly mark. “It’s important to differentiate this from a port wine birthmark,” Dr. Garzon said. “This can be challenging when the birthmark is a darker red color. I have cared for patients who were initially thought to have nevus simplex and later found to have Sturge-Weber syndrome.”

Typical locations of nevus simplex include the central forehead/glabella, eyelids, the nape of the neck, scalp (parietal and occipital), nose, lip area (including philtrum), and the back (lumbosacral area and upper back). Most lesions fade/disappear without treatment (J Am Acad Dermatol. 2020;63[5]:805-14). Rare genetic syndromes associated with exaggerated nevus simplex complex include macrocephaly-capillary malformation syndrome and Beckwith-Wiedemann syndrome, “which tells us that this is a heterogeneous group of patients,” she said.

Dr. Garzon added that it’s “incredibly common” to see an eczema flare occurring within a nevus simplex on the nape of the neck. These patients will have a patch of atopic dermatitis that doesn’t get better. “Beneath it is their nevus simplex,” she said. “Remind parents that even after treating the eczema, the pink patch is not going to go away” (Pediatr Rep. 2021;13[1]:131-4).

Meanwhile, the classic port wine birthmark is usually congenital, uniform, and darker red in color. It darkens with maturity and the pattern will correlate with embryonic vasculature. “I am very wary of acquired port wine lesions,” she added. “It’s been described with trauma-related lesions, but early morphea can also mimic a port wine birthmark. You will see this if you’re practicing pediatric dermatology.”

Nearly a decade ago researchers established a link between port wine birthmarks and genetic variants in the GNAQ gene. “We see this in GNA11 as well,” Dr. Garzon said. “These changes are found in isolated port wine stains, and in Sturge-Weber syndrome. We now know that GNAQ drives the formation of large blood vessels through angiopoietin-2,” she noted (Arterioscler Throm Vasc Biol. 2022;42[1]:e27-43).

In general, studies that have examined genotype-phenotype correlations have demonstrated that the classic port wine birthmark is associated with GNAQ while GNA11 variants can be associated with a more reticulated pattern. “But this is not as clearcut as it seems,” she said. Investigators of a recent study showed an association between hypertension and renal anomalies in patients with skin capillary malformations and mosaic GNAQ or GNA11 variants. “This is a new finding,” she said. “Investigators are working to understand this association.”

Port wine birthmarks with the highest risk of Sturge-Weber syndrome include those that involve the forehead, upper eyelid, the midline frontonasal area, the hemifacial area, and median sites. “Patients who have this should be evaluated at birth,” Dr. Garzon said. “You should not delay for 2 months. They should be evaluated by ophthalmology and neurology early.”

The other morphologies commonly seen are “geographic” well-demarcated capillary malformations, which are dark in color. These lesions can be seen in conditions that are associated with genetic variants in PIK3CA (PROS) and include classic Klippel-Trenaunay syndrome, CLOVES (congenital lipomatous overgrowth, vascular malformations, epidermal nevi, scoliosis/skeletal and spinal) syndrome, and CLAPO (capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry of the face and limbs, and partial or generalized overgrowth) syndrome.

“Reticulated stains are much more heterogeneous,” Dr. Garzon said. “They can be localized or widespread. When you see a patient with a widespread reticulated capillary malformation, think about diffuse capillary malformation with overgrowth (DCMO). This condition is clinically and genetically heterogenous with the affected tissue of some patients showing variants in GNA11 while others have variants in PIK3CA. Therefore, a thorough examination at presentation and long-term follow-up is very important.”

Dr. Garzon disclosed that she is a member of the executive board for the International Society for the Study of Vascular Anomalies.

INDIANAPOLIS – The way Maria C. Garzon, MD, sees it, capillary malformations are often misunderstood. She views them not as a single diagnosis but rather as a variety of conditions that fall under the term capillary malformation.

“The challenge is, we also use that term to describe a diagnosis,” Dr. Garzon, professor of dermatology and pediatrics at Columbia University, New York, said at the annual meeting of the Society for Pediatric Dermatology. “We have imperfect terminology. We use many different terms like capillary nevi and vascular stain. Instead of port wine stain, we now use the term port wine birthmark, and old terms like nevus flammeus are still used. This leads to diagnostic confusion, and it’s a barrier to developing care guidelines.”

Some capillary malformations, she noted, are benign and fade away while others can cause disfigurement or herald significant medical issues.

Histologically, she continued, not all capillary malformations are composed of capillaries. “Some are composed of postcapillary venules,” she said. “There are also mixed type capillary malformations that include lymphatic tissue, and the capillary malformation of capillary malformation-arteriovenous malformation (CM-AVM) syndrome shares histologic features of evolving AVMs as opposed to classic port wine birthmarks.”

The most recent International Society for the Study of Vascular Anomalies Classification of Vascular Anomalies was published in 2018 and is currently being updated. Other proposed clinical classifications have been published, including one that is diagnosis-specific and includes 20 different types of capillary malformations (J Eur Acad Dermatol Venereol. 2015 29[12]:2295-305, Pediatr Dermatol. 2016;33[6]:570-84).

“There are also syndromic classifications. Another question relates to the role of genomics: Are we ready for a classification that’s based purely on genetic variants, or do we need to incorporate it into existing classifications?” Dr. Garzon said. “Novel testing technologies using cell-free DNA and digital droplet PCR may be used in the future to establish diagnoses.” Genetic variants are found within capillary malformations, and they tend to be associated with three major pathways: the RAS-MAPK/ERK pathway, the PI3K/Akt/mTOR pathway, and the G protein pathway.

The type of capillary malformation that dermatologists and pediatricians most commonly see is nevus simplex, which occurs in 20%-82% of neonates. Other terms used include angel’s kiss, stork bite, salmon patch, nevus flammeus simplex, fading vascular stain, medial telangiectatic nevus, and butterfly mark. “It’s important to differentiate this from a port wine birthmark,” Dr. Garzon said. “This can be challenging when the birthmark is a darker red color. I have cared for patients who were initially thought to have nevus simplex and later found to have Sturge-Weber syndrome.”

Typical locations of nevus simplex include the central forehead/glabella, eyelids, the nape of the neck, scalp (parietal and occipital), nose, lip area (including philtrum), and the back (lumbosacral area and upper back). Most lesions fade/disappear without treatment (J Am Acad Dermatol. 2020;63[5]:805-14). Rare genetic syndromes associated with exaggerated nevus simplex complex include macrocephaly-capillary malformation syndrome and Beckwith-Wiedemann syndrome, “which tells us that this is a heterogeneous group of patients,” she said.

Dr. Garzon added that it’s “incredibly common” to see an eczema flare occurring within a nevus simplex on the nape of the neck. These patients will have a patch of atopic dermatitis that doesn’t get better. “Beneath it is their nevus simplex,” she said. “Remind parents that even after treating the eczema, the pink patch is not going to go away” (Pediatr Rep. 2021;13[1]:131-4).

Meanwhile, the classic port wine birthmark is usually congenital, uniform, and darker red in color. It darkens with maturity and the pattern will correlate with embryonic vasculature. “I am very wary of acquired port wine lesions,” she added. “It’s been described with trauma-related lesions, but early morphea can also mimic a port wine birthmark. You will see this if you’re practicing pediatric dermatology.”

Nearly a decade ago researchers established a link between port wine birthmarks and genetic variants in the GNAQ gene. “We see this in GNA11 as well,” Dr. Garzon said. “These changes are found in isolated port wine stains, and in Sturge-Weber syndrome. We now know that GNAQ drives the formation of large blood vessels through angiopoietin-2,” she noted (Arterioscler Throm Vasc Biol. 2022;42[1]:e27-43).

In general, studies that have examined genotype-phenotype correlations have demonstrated that the classic port wine birthmark is associated with GNAQ while GNA11 variants can be associated with a more reticulated pattern. “But this is not as clearcut as it seems,” she said. Investigators of a recent study showed an association between hypertension and renal anomalies in patients with skin capillary malformations and mosaic GNAQ or GNA11 variants. “This is a new finding,” she said. “Investigators are working to understand this association.”

Port wine birthmarks with the highest risk of Sturge-Weber syndrome include those that involve the forehead, upper eyelid, the midline frontonasal area, the hemifacial area, and median sites. “Patients who have this should be evaluated at birth,” Dr. Garzon said. “You should not delay for 2 months. They should be evaluated by ophthalmology and neurology early.”

The other morphologies commonly seen are “geographic” well-demarcated capillary malformations, which are dark in color. These lesions can be seen in conditions that are associated with genetic variants in PIK3CA (PROS) and include classic Klippel-Trenaunay syndrome, CLOVES (congenital lipomatous overgrowth, vascular malformations, epidermal nevi, scoliosis/skeletal and spinal) syndrome, and CLAPO (capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry of the face and limbs, and partial or generalized overgrowth) syndrome.

“Reticulated stains are much more heterogeneous,” Dr. Garzon said. “They can be localized or widespread. When you see a patient with a widespread reticulated capillary malformation, think about diffuse capillary malformation with overgrowth (DCMO). This condition is clinically and genetically heterogenous with the affected tissue of some patients showing variants in GNA11 while others have variants in PIK3CA. Therefore, a thorough examination at presentation and long-term follow-up is very important.”

Dr. Garzon disclosed that she is a member of the executive board for the International Society for the Study of Vascular Anomalies.

Martha Welch, MD, spent the better part of three decades in private practice treating children with emotional, behavioral, and developmental disorders before accepting a job on the faculty of Columbia University, New York, in 1997.

She took the position, she said, with a mission: to find evidence to support what she’d observed in her practice – that parents could, by making stronger emotional connections, change the trajectory of development for preemie infants.

With that understanding, Dr. Welch created Family Nurture Intervention (FNI), which has been shown to improve the development of premature babies.

“We saw that no matter what happened to the baby, no matter how avoidant the baby might be, we’re able to overcome this with emotional expression,” Dr. Welch said.

Over the course of the intervention, families work with a specialist who helps bring mother and baby together – both physically and emotionally – until both are calm, which can initially take several hours and over time, minutes.

FNI appears to help families – especially mothers – re-establish an emotional connection often interrupted by their babies’ stressful and uncertain stay in a neonatal intensive care unit (NICU). In turn, both the infant and maternal nervous systems become better regulated, according to researchers.
 

Early challenges

Babies born preterm can face a range of short-term and long-term challenges, such as breathing problems due to an underdeveloped respiratory system, an increased risk of infection from an underdeveloped immune system, and learning difficulties, according to the Mayo Clinic.

Many aspects of FNI are not new: The neonatal intensive care unit has long incorporated activities such as scent cloth exchanges, talking to the baby, and skin-to-skin contact. But the approach Dr. Welch and her colleagues advocate emphasizes building a bond between the mother and the infant.

Mounting evidence shows that FNI can improve a wide range of outcomes for premature babies. In a 2021 study, for example, Dr. Welch’s group showed that FNI was associated with lower heart rates among preemies in the NICU. A 2016 study linked the intervention to reduced depression and anxiety symptoms in mothers of preterm infants. And a 2015 randomized controlled trial showed FNI improved development and behavioral outcomes in infants up to 18 months.

A new study published in Science Translational Medicine showed that the intervention led to a greater likelihood that babies had improved cognitive development later on, narrowing the developmental gap between healthy, full-term babies.

Dr. Welch and her colleagues tested to see if FNI measurably changed brain development in preterm infants who were born at 26-34 weeks of a pregnancy.

“We were blown away by the strength of the effect,” said Pauliina Yrjölä, MSc, a doctoral student and medical physicist at the University of Helsinki, who led the study on which Dr. Welch is a co-author.

Mothers in the intervention group made as much eye contact with the infants as possible and spoke with infants about their feelings.

Intimate sensory interactions between mothers and infants physically altered infants’ cortical networks in the brain and was later correlated to improved neurocognitive performance, according to the researchers.

“I was convinced there were physiological changes; I knew that from my clinical work,” Dr. Welch said. “I wanted to show it in this concrete, scientific way.”
 

Preterm babies face many hurdles

“If we can prevent problems in brain network organization to the extent that’s shown in this study and improve their outcomes, this is worth millions of dollars in terms of cost to society, schooling, health care, especially education, and families,” said Ruth Grunau, PhD, a professor in the Division of Neonatology in the department of pediatrics at the University of British Columbia, Vancouver, who was not involved with the most recent study but has worked with Dr. Welch previously.

Babies born too early, especially before 32 weeks, have higher rates of death and disability, according to the Centers for Disease Control and Prevention.

And preterm babies overall may experience breathing problems and feeding difficulties almost immediately following birth. They may also experience long-term problems such as developmental delays, vision problems, and hearing problems.

Dr. Grunau said that while many other programs and interventions have been used in the neonatal intensive care unit to help infants and mothers, the results from FNI stand out.

Ms. Yrjölä said she was surprised by the strength of the correlation as the infants continued to develop. The infants receiving the Family Nurture Intervention showed brain development close to the control group, which was infants born at full-term.

“Emotional connection is a state, not a trait – and a state can be changed,” said Dr. Welch. “And in this case, it can be changed by the parent through emotional expression.”
 

Steps clinicians can take

Dr. Welch said the approach is highly scalable, and two NICUs that participated in the FNI studies have implemented the program as standard care.

The approach is also gaining interest outside of the clinical setting, as preschool partners have expressed interest in implementing some of the methods to promote development.

Parents, family members, and teachers can use many of the FNI techniques – such as eye contact and emotional expression – to continue to develop and strengthen connection.

For clinicians who want to implement parts of the intervention on their own, Dr. Welch said doctors can observe if the baby looks at or turns toward their mother.

Clinicians can encourage mothers to express deep, emotional feelings toward the infant. Dr. Welch stressed that feelings don’t have to be positive, as many mothers with babies in the NICU have a hard time expressing positive emotions. Crying or talking about the difficulties of their childbirth experience count as expressing emotion. The important part is that the baby hears emotion, of any kind, in the mother’s voice, Dr. Welch said.

As the connection develops, it will eventually take less time for the mother and the baby to form a bond, and eventually the pair will become autonomically regulated.

“This is what gives us hope,” she said. “We affect each other in our autonomic nervous systems. It’s why this treatment works.”

The study was funded by the Finnish Pediatric Foundation, The Finnish Academy, the Juselius Foundation, Aivosäätiö, Neuroscience Center at University of Helsinki and Helsinki University Central Hospital, gifts from the Einhorn Family Charitable Trust, the Fleur Fairman Family, M. D. Stephenson, and The National Health and Medical Research Council of Australia. The authors have disclosed no relevant financial relationships.

A version of this article first appeared on Medscape.com.

Martha Welch, MD, spent the better part of three decades in private practice treating children with emotional, behavioral, and developmental disorders before accepting a job on the faculty of Columbia University, New York, in 1997.

She took the position, she said, with a mission: to find evidence to support what she’d observed in her practice – that parents could, by making stronger emotional connections, change the trajectory of development for preemie infants.

With that understanding, Dr. Welch created Family Nurture Intervention (FNI), which has been shown to improve the development of premature babies.

“We saw that no matter what happened to the baby, no matter how avoidant the baby might be, we’re able to overcome this with emotional expression,” Dr. Welch said.

Over the course of the intervention, families work with a specialist who helps bring mother and baby together – both physically and emotionally – until both are calm, which can initially take several hours and over time, minutes.

FNI appears to help families – especially mothers – re-establish an emotional connection often interrupted by their babies’ stressful and uncertain stay in a neonatal intensive care unit (NICU). In turn, both the infant and maternal nervous systems become better regulated, according to researchers.
 

Early challenges

Babies born preterm can face a range of short-term and long-term challenges, such as breathing problems due to an underdeveloped respiratory system, an increased risk of infection from an underdeveloped immune system, and learning difficulties, according to the Mayo Clinic.

Many aspects of FNI are not new: The neonatal intensive care unit has long incorporated activities such as scent cloth exchanges, talking to the baby, and skin-to-skin contact. But the approach Dr. Welch and her colleagues advocate emphasizes building a bond between the mother and the infant.

Mounting evidence shows that FNI can improve a wide range of outcomes for premature babies. In a 2021 study, for example, Dr. Welch’s group showed that FNI was associated with lower heart rates among preemies in the NICU. A 2016 study linked the intervention to reduced depression and anxiety symptoms in mothers of preterm infants. And a 2015 randomized controlled trial showed FNI improved development and behavioral outcomes in infants up to 18 months.

A new study published in Science Translational Medicine showed that the intervention led to a greater likelihood that babies had improved cognitive development later on, narrowing the developmental gap between healthy, full-term babies.

Dr. Welch and her colleagues tested to see if FNI measurably changed brain development in preterm infants who were born at 26-34 weeks of a pregnancy.

“We were blown away by the strength of the effect,” said Pauliina Yrjölä, MSc, a doctoral student and medical physicist at the University of Helsinki, who led the study on which Dr. Welch is a co-author.

Mothers in the intervention group made as much eye contact with the infants as possible and spoke with infants about their feelings.

Intimate sensory interactions between mothers and infants physically altered infants’ cortical networks in the brain and was later correlated to improved neurocognitive performance, according to the researchers.

“I was convinced there were physiological changes; I knew that from my clinical work,” Dr. Welch said. “I wanted to show it in this concrete, scientific way.”
 

Preterm babies face many hurdles

“If we can prevent problems in brain network organization to the extent that’s shown in this study and improve their outcomes, this is worth millions of dollars in terms of cost to society, schooling, health care, especially education, and families,” said Ruth Grunau, PhD, a professor in the Division of Neonatology in the department of pediatrics at the University of British Columbia, Vancouver, who was not involved with the most recent study but has worked with Dr. Welch previously.

Babies born too early, especially before 32 weeks, have higher rates of death and disability, according to the Centers for Disease Control and Prevention.

And preterm babies overall may experience breathing problems and feeding difficulties almost immediately following birth. They may also experience long-term problems such as developmental delays, vision problems, and hearing problems.

Dr. Grunau said that while many other programs and interventions have been used in the neonatal intensive care unit to help infants and mothers, the results from FNI stand out.

Ms. Yrjölä said she was surprised by the strength of the correlation as the infants continued to develop. The infants receiving the Family Nurture Intervention showed brain development close to the control group, which was infants born at full-term.

“Emotional connection is a state, not a trait – and a state can be changed,” said Dr. Welch. “And in this case, it can be changed by the parent through emotional expression.”
 

Steps clinicians can take

Dr. Welch said the approach is highly scalable, and two NICUs that participated in the FNI studies have implemented the program as standard care.

The approach is also gaining interest outside of the clinical setting, as preschool partners have expressed interest in implementing some of the methods to promote development.

Parents, family members, and teachers can use many of the FNI techniques – such as eye contact and emotional expression – to continue to develop and strengthen connection.

For clinicians who want to implement parts of the intervention on their own, Dr. Welch said doctors can observe if the baby looks at or turns toward their mother.

Clinicians can encourage mothers to express deep, emotional feelings toward the infant. Dr. Welch stressed that feelings don’t have to be positive, as many mothers with babies in the NICU have a hard time expressing positive emotions. Crying or talking about the difficulties of their childbirth experience count as expressing emotion. The important part is that the baby hears emotion, of any kind, in the mother’s voice, Dr. Welch said.

As the connection develops, it will eventually take less time for the mother and the baby to form a bond, and eventually the pair will become autonomically regulated.

“This is what gives us hope,” she said. “We affect each other in our autonomic nervous systems. It’s why this treatment works.”

The study was funded by the Finnish Pediatric Foundation, The Finnish Academy, the Juselius Foundation, Aivosäätiö, Neuroscience Center at University of Helsinki and Helsinki University Central Hospital, gifts from the Einhorn Family Charitable Trust, the Fleur Fairman Family, M. D. Stephenson, and The National Health and Medical Research Council of Australia. The authors have disclosed no relevant financial relationships.

A version of this article first appeared on Medscape.com.

Martha Welch, MD, spent the better part of three decades in private practice treating children with emotional, behavioral, and developmental disorders before accepting a job on the faculty of Columbia University, New York, in 1997.

She took the position, she said, with a mission: to find evidence to support what she’d observed in her practice – that parents could, by making stronger emotional connections, change the trajectory of development for preemie infants.

With that understanding, Dr. Welch created Family Nurture Intervention (FNI), which has been shown to improve the development of premature babies.

“We saw that no matter what happened to the baby, no matter how avoidant the baby might be, we’re able to overcome this with emotional expression,” Dr. Welch said.

Over the course of the intervention, families work with a specialist who helps bring mother and baby together – both physically and emotionally – until both are calm, which can initially take several hours and over time, minutes.

FNI appears to help families – especially mothers – re-establish an emotional connection often interrupted by their babies’ stressful and uncertain stay in a neonatal intensive care unit (NICU). In turn, both the infant and maternal nervous systems become better regulated, according to researchers.
 

Early challenges

Babies born preterm can face a range of short-term and long-term challenges, such as breathing problems due to an underdeveloped respiratory system, an increased risk of infection from an underdeveloped immune system, and learning difficulties, according to the Mayo Clinic.

Many aspects of FNI are not new: The neonatal intensive care unit has long incorporated activities such as scent cloth exchanges, talking to the baby, and skin-to-skin contact. But the approach Dr. Welch and her colleagues advocate emphasizes building a bond between the mother and the infant.

Mounting evidence shows that FNI can improve a wide range of outcomes for premature babies. In a 2021 study, for example, Dr. Welch’s group showed that FNI was associated with lower heart rates among preemies in the NICU. A 2016 study linked the intervention to reduced depression and anxiety symptoms in mothers of preterm infants. And a 2015 randomized controlled trial showed FNI improved development and behavioral outcomes in infants up to 18 months.

A new study published in Science Translational Medicine showed that the intervention led to a greater likelihood that babies had improved cognitive development later on, narrowing the developmental gap between healthy, full-term babies.

Dr. Welch and her colleagues tested to see if FNI measurably changed brain development in preterm infants who were born at 26-34 weeks of a pregnancy.

“We were blown away by the strength of the effect,” said Pauliina Yrjölä, MSc, a doctoral student and medical physicist at the University of Helsinki, who led the study on which Dr. Welch is a co-author.

Mothers in the intervention group made as much eye contact with the infants as possible and spoke with infants about their feelings.

Intimate sensory interactions between mothers and infants physically altered infants’ cortical networks in the brain and was later correlated to improved neurocognitive performance, according to the researchers.

“I was convinced there were physiological changes; I knew that from my clinical work,” Dr. Welch said. “I wanted to show it in this concrete, scientific way.”
 

Preterm babies face many hurdles

“If we can prevent problems in brain network organization to the extent that’s shown in this study and improve their outcomes, this is worth millions of dollars in terms of cost to society, schooling, health care, especially education, and families,” said Ruth Grunau, PhD, a professor in the Division of Neonatology in the department of pediatrics at the University of British Columbia, Vancouver, who was not involved with the most recent study but has worked with Dr. Welch previously.

Babies born too early, especially before 32 weeks, have higher rates of death and disability, according to the Centers for Disease Control and Prevention.

And preterm babies overall may experience breathing problems and feeding difficulties almost immediately following birth. They may also experience long-term problems such as developmental delays, vision problems, and hearing problems.

Dr. Grunau said that while many other programs and interventions have been used in the neonatal intensive care unit to help infants and mothers, the results from FNI stand out.

Ms. Yrjölä said she was surprised by the strength of the correlation as the infants continued to develop. The infants receiving the Family Nurture Intervention showed brain development close to the control group, which was infants born at full-term.

“Emotional connection is a state, not a trait – and a state can be changed,” said Dr. Welch. “And in this case, it can be changed by the parent through emotional expression.”
 

Steps clinicians can take

Dr. Welch said the approach is highly scalable, and two NICUs that participated in the FNI studies have implemented the program as standard care.

The approach is also gaining interest outside of the clinical setting, as preschool partners have expressed interest in implementing some of the methods to promote development.

Parents, family members, and teachers can use many of the FNI techniques – such as eye contact and emotional expression – to continue to develop and strengthen connection.

For clinicians who want to implement parts of the intervention on their own, Dr. Welch said doctors can observe if the baby looks at or turns toward their mother.

Clinicians can encourage mothers to express deep, emotional feelings toward the infant. Dr. Welch stressed that feelings don’t have to be positive, as many mothers with babies in the NICU have a hard time expressing positive emotions. Crying or talking about the difficulties of their childbirth experience count as expressing emotion. The important part is that the baby hears emotion, of any kind, in the mother’s voice, Dr. Welch said.

As the connection develops, it will eventually take less time for the mother and the baby to form a bond, and eventually the pair will become autonomically regulated.

“This is what gives us hope,” she said. “We affect each other in our autonomic nervous systems. It’s why this treatment works.”

The study was funded by the Finnish Pediatric Foundation, The Finnish Academy, the Juselius Foundation, Aivosäätiö, Neuroscience Center at University of Helsinki and Helsinki University Central Hospital, gifts from the Einhorn Family Charitable Trust, the Fleur Fairman Family, M. D. Stephenson, and The National Health and Medical Research Council of Australia. The authors have disclosed no relevant financial relationships.

A version of this article first appeared on Medscape.com.

The prosecution concluded its case on Oct. 13 against a nurse from Chester who is on trial for the murder of seven babies and the attempted murder of another 10 babies under her care. Lucy Letby, 32, who worked at the Countess of Chester Hospital, is accused of multiple baby murders in the hospital’s neonatal unit from June 2015 to June 2016. She denies all charges.

Manchester Crown Court heard how Ms. Letby allegedly attempted to kill the children by injecting them with air, milk, or insulin, including two brothers from a set of triplets and one premature baby girl, who was only 98 minutes old.

Prosecutor Nicholas Johnson KC said the circumstances of the girl’s death were “an extreme example even by the standards of this case.”

“There were four separate occasions on which we allege Lucy Letby tried to kill her,” he said. “But ultimately at the fourth attempt, Lucy Letby succeeded in killing her.”
 

Attempts to murder the child ‘cold-blooded’ and ‘calculated’, says prosecutor

In the first alleged attempt, Ms. Letby injected the girl, identified for legal reasons as Child I, with air, but she was “resilient,” said Mr. Johnson. After the second attempt, Ms. Letby had stood in the doorway of Child I’s darkened room and commented that she looked pale. The designated nurse then approached and turned on the light, noticing that the child wasn’t breathing. After a third attempt the child was found to have excess air in her stomach, which had affected her breathing. Child I was then transferred to Arrowe Park Hospital, where she was stabilized before she was returned to Chester.

After the fourth attempt, Child I’s medical alarm rang, leading a nurse to spot Ms. Letby by the child’s incubator. Child I died that morning, said Mr. Johnson, who described the nurse’s attacks as premeditated. “It was persistent, it was calculated, and it was cold-blooded.”

The judge, Mr. Justice Goss, and jury heard how shortly after the parents were told of their child’s death, Ms. Letby approached the mother, who testified that the nurse was “smiling and kept going on about how she was present at the baby’s first bath and how much the baby had loved it.” She also sent a sympathy card to the parents, and the prosecutor says she kept an image of the card on her phone.
 

Doctor interrupted another alleged attempt

Dr. Ravi Jayaram, a paediatric consultant, had become suspicious of Ms. Letby in a number of unexplained child deaths. He later interrupted her as she allegedly tried to kill another baby, identified as Child K. He noticed that the nurse was alone with the baby and walked into the room, seeing Ms. Letby standing over the child’s incubator. He was “uncomfortable” as he had “started to notice a coincidence between unexplained deaths, serious collapses, and the presence of Lucy Letby,” said the prosecutor.

“Dr. Jayaram could see from the monitor on the wall that Child K’s oxygen saturation level was falling dangerously low, to somewhere in the 80s,” said Mr. Johnson. “He said an alarm should have been sounding as Child K’s oxygen levels were falling.” Despite this, the nurse had not called for assistance.

“We allege she was trying to kill Child K when Dr. Jayaram walked in,” Mr. Johnson said, adding that the child’s breathing tube was found dislodged. The prosecutor said it was possible for this to happen in an active baby, but Child K was very premature and had been sedated.

Despite his concerns, Dr. Jayaram did not make a note of his suspicions. Later that morning, Ms. Letby was again at Child K’s incubator calling for help. The nurse was assisting the baby with her breathing and the breathing tube was found to have slipped too far into her throat. The child was transferred to another hospital but later died. Ms. Letby is not accused of Child K’s murder.

However, after the death of Child K, Ms. Letby was moved to day shifts “because the consultants were concerned about the correlation between her presence and unexpected deaths and life-threatening episodes on the night shifts,” said Mr. Johnson. She was removed from the neonatal ward in June 2016 and moved to clerical duties where she would not come into contact with children.
 

Post-it note: Admission or anguish?

At the end of the prosecution’s presentation, Mr. Johnson mentioned a Post-it on which Ms. Letby had written, “I AM EVIL I DID THIS.” In the defense’s opening statements, Ben Myers KC, said the note was an “anguished outpouring of a young woman in fear and despair when she realises the enormity of what’s being said about her, in a moment to herself.”

He added that the nurse was dealing with employment issues at the time it was written, including a grievance procedure with the NHS Trust where she worked. Another note was shown on screens to the jury, which read: “Not good enough. I’m an awful person. I will never have children or marry. Despair.” and “I haven’t done anything wrong.”

Mr. Myers said that Ms. Letby was the type of person who often scribbles things down and the note was “nothing more extraordinary than that.”

In presenting the defense case, Mr. Myers argued that there was no evidence of Letby hurting the children, and that the prosecution’s case was “driven by the assumption that someone was doing deliberate harm” and that this was combined with “coincidence on certain occasions of Miss Letby’s presence.”

“What it isn’t driven by is evidence of Miss Letby actually doing what is alleged against her,” he added.

“There is a real danger that people will simply accept the prosecution theory of guilt, and that’s all we have so far,” Mr. Myers said. “A theory of guilt based firmly on coincidence – if anything can be based firmly on coincidence.”

A version of this article first appeared on Medscape UK.

The prosecution concluded its case on Oct. 13 against a nurse from Chester who is on trial for the murder of seven babies and the attempted murder of another 10 babies under her care. Lucy Letby, 32, who worked at the Countess of Chester Hospital, is accused of multiple baby murders in the hospital’s neonatal unit from June 2015 to June 2016. She denies all charges.

Manchester Crown Court heard how Ms. Letby allegedly attempted to kill the children by injecting them with air, milk, or insulin, including two brothers from a set of triplets and one premature baby girl, who was only 98 minutes old.

Prosecutor Nicholas Johnson KC said the circumstances of the girl’s death were “an extreme example even by the standards of this case.”

“There were four separate occasions on which we allege Lucy Letby tried to kill her,” he said. “But ultimately at the fourth attempt, Lucy Letby succeeded in killing her.”
 

Attempts to murder the child ‘cold-blooded’ and ‘calculated’, says prosecutor

In the first alleged attempt, Ms. Letby injected the girl, identified for legal reasons as Child I, with air, but she was “resilient,” said Mr. Johnson. After the second attempt, Ms. Letby had stood in the doorway of Child I’s darkened room and commented that she looked pale. The designated nurse then approached and turned on the light, noticing that the child wasn’t breathing. After a third attempt the child was found to have excess air in her stomach, which had affected her breathing. Child I was then transferred to Arrowe Park Hospital, where she was stabilized before she was returned to Chester.

After the fourth attempt, Child I’s medical alarm rang, leading a nurse to spot Ms. Letby by the child’s incubator. Child I died that morning, said Mr. Johnson, who described the nurse’s attacks as premeditated. “It was persistent, it was calculated, and it was cold-blooded.”

The judge, Mr. Justice Goss, and jury heard how shortly after the parents were told of their child’s death, Ms. Letby approached the mother, who testified that the nurse was “smiling and kept going on about how she was present at the baby’s first bath and how much the baby had loved it.” She also sent a sympathy card to the parents, and the prosecutor says she kept an image of the card on her phone.
 

Doctor interrupted another alleged attempt

Dr. Ravi Jayaram, a paediatric consultant, had become suspicious of Ms. Letby in a number of unexplained child deaths. He later interrupted her as she allegedly tried to kill another baby, identified as Child K. He noticed that the nurse was alone with the baby and walked into the room, seeing Ms. Letby standing over the child’s incubator. He was “uncomfortable” as he had “started to notice a coincidence between unexplained deaths, serious collapses, and the presence of Lucy Letby,” said the prosecutor.

“Dr. Jayaram could see from the monitor on the wall that Child K’s oxygen saturation level was falling dangerously low, to somewhere in the 80s,” said Mr. Johnson. “He said an alarm should have been sounding as Child K’s oxygen levels were falling.” Despite this, the nurse had not called for assistance.

“We allege she was trying to kill Child K when Dr. Jayaram walked in,” Mr. Johnson said, adding that the child’s breathing tube was found dislodged. The prosecutor said it was possible for this to happen in an active baby, but Child K was very premature and had been sedated.

Despite his concerns, Dr. Jayaram did not make a note of his suspicions. Later that morning, Ms. Letby was again at Child K’s incubator calling for help. The nurse was assisting the baby with her breathing and the breathing tube was found to have slipped too far into her throat. The child was transferred to another hospital but later died. Ms. Letby is not accused of Child K’s murder.

However, after the death of Child K, Ms. Letby was moved to day shifts “because the consultants were concerned about the correlation between her presence and unexpected deaths and life-threatening episodes on the night shifts,” said Mr. Johnson. She was removed from the neonatal ward in June 2016 and moved to clerical duties where she would not come into contact with children.
 

Post-it note: Admission or anguish?

At the end of the prosecution’s presentation, Mr. Johnson mentioned a Post-it on which Ms. Letby had written, “I AM EVIL I DID THIS.” In the defense’s opening statements, Ben Myers KC, said the note was an “anguished outpouring of a young woman in fear and despair when she realises the enormity of what’s being said about her, in a moment to herself.”

He added that the nurse was dealing with employment issues at the time it was written, including a grievance procedure with the NHS Trust where she worked. Another note was shown on screens to the jury, which read: “Not good enough. I’m an awful person. I will never have children or marry. Despair.” and “I haven’t done anything wrong.”

Mr. Myers said that Ms. Letby was the type of person who often scribbles things down and the note was “nothing more extraordinary than that.”

In presenting the defense case, Mr. Myers argued that there was no evidence of Letby hurting the children, and that the prosecution’s case was “driven by the assumption that someone was doing deliberate harm” and that this was combined with “coincidence on certain occasions of Miss Letby’s presence.”

“What it isn’t driven by is evidence of Miss Letby actually doing what is alleged against her,” he added.

“There is a real danger that people will simply accept the prosecution theory of guilt, and that’s all we have so far,” Mr. Myers said. “A theory of guilt based firmly on coincidence – if anything can be based firmly on coincidence.”

A version of this article first appeared on Medscape UK.

The prosecution concluded its case on Oct. 13 against a nurse from Chester who is on trial for the murder of seven babies and the attempted murder of another 10 babies under her care. Lucy Letby, 32, who worked at the Countess of Chester Hospital, is accused of multiple baby murders in the hospital’s neonatal unit from June 2015 to June 2016. She denies all charges.

Manchester Crown Court heard how Ms. Letby allegedly attempted to kill the children by injecting them with air, milk, or insulin, including two brothers from a set of triplets and one premature baby girl, who was only 98 minutes old.

Prosecutor Nicholas Johnson KC said the circumstances of the girl’s death were “an extreme example even by the standards of this case.”

“There were four separate occasions on which we allege Lucy Letby tried to kill her,” he said. “But ultimately at the fourth attempt, Lucy Letby succeeded in killing her.”
 

Attempts to murder the child ‘cold-blooded’ and ‘calculated’, says prosecutor

In the first alleged attempt, Ms. Letby injected the girl, identified for legal reasons as Child I, with air, but she was “resilient,” said Mr. Johnson. After the second attempt, Ms. Letby had stood in the doorway of Child I’s darkened room and commented that she looked pale. The designated nurse then approached and turned on the light, noticing that the child wasn’t breathing. After a third attempt the child was found to have excess air in her stomach, which had affected her breathing. Child I was then transferred to Arrowe Park Hospital, where she was stabilized before she was returned to Chester.

After the fourth attempt, Child I’s medical alarm rang, leading a nurse to spot Ms. Letby by the child’s incubator. Child I died that morning, said Mr. Johnson, who described the nurse’s attacks as premeditated. “It was persistent, it was calculated, and it was cold-blooded.”

The judge, Mr. Justice Goss, and jury heard how shortly after the parents were told of their child’s death, Ms. Letby approached the mother, who testified that the nurse was “smiling and kept going on about how she was present at the baby’s first bath and how much the baby had loved it.” She also sent a sympathy card to the parents, and the prosecutor says she kept an image of the card on her phone.
 

Doctor interrupted another alleged attempt

Dr. Ravi Jayaram, a paediatric consultant, had become suspicious of Ms. Letby in a number of unexplained child deaths. He later interrupted her as she allegedly tried to kill another baby, identified as Child K. He noticed that the nurse was alone with the baby and walked into the room, seeing Ms. Letby standing over the child’s incubator. He was “uncomfortable” as he had “started to notice a coincidence between unexplained deaths, serious collapses, and the presence of Lucy Letby,” said the prosecutor.

“Dr. Jayaram could see from the monitor on the wall that Child K’s oxygen saturation level was falling dangerously low, to somewhere in the 80s,” said Mr. Johnson. “He said an alarm should have been sounding as Child K’s oxygen levels were falling.” Despite this, the nurse had not called for assistance.

“We allege she was trying to kill Child K when Dr. Jayaram walked in,” Mr. Johnson said, adding that the child’s breathing tube was found dislodged. The prosecutor said it was possible for this to happen in an active baby, but Child K was very premature and had been sedated.

Despite his concerns, Dr. Jayaram did not make a note of his suspicions. Later that morning, Ms. Letby was again at Child K’s incubator calling for help. The nurse was assisting the baby with her breathing and the breathing tube was found to have slipped too far into her throat. The child was transferred to another hospital but later died. Ms. Letby is not accused of Child K’s murder.

However, after the death of Child K, Ms. Letby was moved to day shifts “because the consultants were concerned about the correlation between her presence and unexpected deaths and life-threatening episodes on the night shifts,” said Mr. Johnson. She was removed from the neonatal ward in June 2016 and moved to clerical duties where she would not come into contact with children.
 

Post-it note: Admission or anguish?

At the end of the prosecution’s presentation, Mr. Johnson mentioned a Post-it on which Ms. Letby had written, “I AM EVIL I DID THIS.” In the defense’s opening statements, Ben Myers KC, said the note was an “anguished outpouring of a young woman in fear and despair when she realises the enormity of what’s being said about her, in a moment to herself.”

He added that the nurse was dealing with employment issues at the time it was written, including a grievance procedure with the NHS Trust where she worked. Another note was shown on screens to the jury, which read: “Not good enough. I’m an awful person. I will never have children or marry. Despair.” and “I haven’t done anything wrong.”

Mr. Myers said that Ms. Letby was the type of person who often scribbles things down and the note was “nothing more extraordinary than that.”

In presenting the defense case, Mr. Myers argued that there was no evidence of Letby hurting the children, and that the prosecution’s case was “driven by the assumption that someone was doing deliberate harm” and that this was combined with “coincidence on certain occasions of Miss Letby’s presence.”

“What it isn’t driven by is evidence of Miss Letby actually doing what is alleged against her,” he added.

“There is a real danger that people will simply accept the prosecution theory of guilt, and that’s all we have so far,” Mr. Myers said. “A theory of guilt based firmly on coincidence – if anything can be based firmly on coincidence.”

A version of this article first appeared on Medscape UK.

Jennifer Kalish, MD, PhD, fields as many as 10 inquiries a month from pediatricians who spot an unusual feature during a clinical exam, and wonder if they should refer the family to a geneticist. 

“There are hundreds of rare disorders, and for a pediatrician, they can be hard to recognize,” Dr. Kalish said. “That’s why we’re here as geneticists – to partner so that we can help.”

Pediatricians play a key role in spotting signs of rare genetic diseases, but may need guidance for recognizing the more subtle presentations of a disorder, according to Dr. Kalish, a geneticist and director of the Beckwith-Wiedemann Syndrome Clinic at Children’s Hospital of Philadelphia, who spoke at the American Academy of Pediatrics National Conference.
 

Spectrums of disease

Pediatricians may struggle with deciding whether to make a referral, in part because genetic syndromes “do not always look like the textbook,” she said.

With many conditions, “we’re starting to understand that there’s really a spectrum of how affected versus less affected one can be,” by genetic and epigenetic changes, which have led to recognition that many cases are more subtle and harder to diagnose, she said.  

Beckwith-Wiedemann syndrome is a prime example.  The overgrowth disorder affects an estimated 1 in 10,340 infants, and is associated with a heightened risk of Wilms tumors, a form of kidney cancer, and hepatoblastomas. Children diagnosed with these conditions typically undergo frequent screenings to detect tumors to jumpstart treatment.

Some researchers believe Beckwith-Wiedemann syndrome is underdiagnosed because it can present in many different ways because of variations in the distributions of affected cells in the body, known as mosaicism.

To address the complexity, Dr. Kalish guided development of a scoring system for determining whether molecular testing is warranted. Primary features such as an enlarged tongue and lateralized overgrowth carry more points, whereas suggestive features like ear creases or large birth weight carry fewer points.

Diagnostic advances have occurred for other syndromes, as well. For example, researchers have created a scoring system for Russell-Silver syndrome, a less common disorder characterized by slow growth before and after birth, in which mosaicism is also present.

Early diagnosis and intervention of Russell-Silver syndrome can ensure that patients grow to their maximum potential and address problems such as feeding issues.
 

Spotting a “compilation of features”

Although tools are available, Dr. Kalish said pediatricians don’t need to make a diagnosis, and instead can refer patients to a geneticist after recognizing clinical features that hint at a genetic etiology.

For pediatricians, the process of deciding whether to refer a patient to a geneticist may entail ruling out nongenetic causes, considering patient and family history, and ultimately deciding whether there is a “compilation of features” that falls outside the norm, she said. Unfortunately, she added, there’s “not a simple list I could just hand out saying, ‘If you see these things, call me.’ ”

Dr. Kalish said pediatricians should be aware that two children with similar features can have different syndromes. She presented case studies of two infants, who both had enlarged tongues and older mothers.

One child had hallmarks that pointed to Beckwith-Wiedemann syndrome: conception with in vitro fertilization, length in the 98th percentile, a long umbilical cord, nevus simplex birthmarks, and labial and leg asymmetry.

The other baby had features aligned with Down syndrome: a heart murmur, upward slanting eyes, and a single crease on the palm.

In some cases, isolated features such as the shape, slant, or spacing of eyes, or the presence of creases on the ears, may simply be familial or inherited traits, Dr. Kalish said.

She noted that “there’s been a lot of work in genetics in the past few years to show what syndromes look like” in diverse populations. The American Journal of Medical Genetics Part A has published a series of reports on the topic.

Dr. Kalish reported no relevant financial relationships.

A version of this article first appeared on Medscape.com.

Jennifer Kalish, MD, PhD, fields as many as 10 inquiries a month from pediatricians who spot an unusual feature during a clinical exam, and wonder if they should refer the family to a geneticist. 

“There are hundreds of rare disorders, and for a pediatrician, they can be hard to recognize,” Dr. Kalish said. “That’s why we’re here as geneticists – to partner so that we can help.”

Pediatricians play a key role in spotting signs of rare genetic diseases, but may need guidance for recognizing the more subtle presentations of a disorder, according to Dr. Kalish, a geneticist and director of the Beckwith-Wiedemann Syndrome Clinic at Children’s Hospital of Philadelphia, who spoke at the American Academy of Pediatrics National Conference.
 

Spectrums of disease

Pediatricians may struggle with deciding whether to make a referral, in part because genetic syndromes “do not always look like the textbook,” she said.

With many conditions, “we’re starting to understand that there’s really a spectrum of how affected versus less affected one can be,” by genetic and epigenetic changes, which have led to recognition that many cases are more subtle and harder to diagnose, she said.  

Beckwith-Wiedemann syndrome is a prime example.  The overgrowth disorder affects an estimated 1 in 10,340 infants, and is associated with a heightened risk of Wilms tumors, a form of kidney cancer, and hepatoblastomas. Children diagnosed with these conditions typically undergo frequent screenings to detect tumors to jumpstart treatment.

Some researchers believe Beckwith-Wiedemann syndrome is underdiagnosed because it can present in many different ways because of variations in the distributions of affected cells in the body, known as mosaicism.

To address the complexity, Dr. Kalish guided development of a scoring system for determining whether molecular testing is warranted. Primary features such as an enlarged tongue and lateralized overgrowth carry more points, whereas suggestive features like ear creases or large birth weight carry fewer points.

Diagnostic advances have occurred for other syndromes, as well. For example, researchers have created a scoring system for Russell-Silver syndrome, a less common disorder characterized by slow growth before and after birth, in which mosaicism is also present.

Early diagnosis and intervention of Russell-Silver syndrome can ensure that patients grow to their maximum potential and address problems such as feeding issues.
 

Spotting a “compilation of features”

Although tools are available, Dr. Kalish said pediatricians don’t need to make a diagnosis, and instead can refer patients to a geneticist after recognizing clinical features that hint at a genetic etiology.

For pediatricians, the process of deciding whether to refer a patient to a geneticist may entail ruling out nongenetic causes, considering patient and family history, and ultimately deciding whether there is a “compilation of features” that falls outside the norm, she said. Unfortunately, she added, there’s “not a simple list I could just hand out saying, ‘If you see these things, call me.’ ”

Dr. Kalish said pediatricians should be aware that two children with similar features can have different syndromes. She presented case studies of two infants, who both had enlarged tongues and older mothers.

One child had hallmarks that pointed to Beckwith-Wiedemann syndrome: conception with in vitro fertilization, length in the 98th percentile, a long umbilical cord, nevus simplex birthmarks, and labial and leg asymmetry.

The other baby had features aligned with Down syndrome: a heart murmur, upward slanting eyes, and a single crease on the palm.

In some cases, isolated features such as the shape, slant, or spacing of eyes, or the presence of creases on the ears, may simply be familial or inherited traits, Dr. Kalish said.

She noted that “there’s been a lot of work in genetics in the past few years to show what syndromes look like” in diverse populations. The American Journal of Medical Genetics Part A has published a series of reports on the topic.

Dr. Kalish reported no relevant financial relationships.

A version of this article first appeared on Medscape.com.

Jennifer Kalish, MD, PhD, fields as many as 10 inquiries a month from pediatricians who spot an unusual feature during a clinical exam, and wonder if they should refer the family to a geneticist. 

“There are hundreds of rare disorders, and for a pediatrician, they can be hard to recognize,” Dr. Kalish said. “That’s why we’re here as geneticists – to partner so that we can help.”

Pediatricians play a key role in spotting signs of rare genetic diseases, but may need guidance for recognizing the more subtle presentations of a disorder, according to Dr. Kalish, a geneticist and director of the Beckwith-Wiedemann Syndrome Clinic at Children’s Hospital of Philadelphia, who spoke at the American Academy of Pediatrics National Conference.
 

Spectrums of disease

Pediatricians may struggle with deciding whether to make a referral, in part because genetic syndromes “do not always look like the textbook,” she said.

With many conditions, “we’re starting to understand that there’s really a spectrum of how affected versus less affected one can be,” by genetic and epigenetic changes, which have led to recognition that many cases are more subtle and harder to diagnose, she said.  

Beckwith-Wiedemann syndrome is a prime example.  The overgrowth disorder affects an estimated 1 in 10,340 infants, and is associated with a heightened risk of Wilms tumors, a form of kidney cancer, and hepatoblastomas. Children diagnosed with these conditions typically undergo frequent screenings to detect tumors to jumpstart treatment.

Some researchers believe Beckwith-Wiedemann syndrome is underdiagnosed because it can present in many different ways because of variations in the distributions of affected cells in the body, known as mosaicism.

To address the complexity, Dr. Kalish guided development of a scoring system for determining whether molecular testing is warranted. Primary features such as an enlarged tongue and lateralized overgrowth carry more points, whereas suggestive features like ear creases or large birth weight carry fewer points.

Diagnostic advances have occurred for other syndromes, as well. For example, researchers have created a scoring system for Russell-Silver syndrome, a less common disorder characterized by slow growth before and after birth, in which mosaicism is also present.

Early diagnosis and intervention of Russell-Silver syndrome can ensure that patients grow to their maximum potential and address problems such as feeding issues.
 

Spotting a “compilation of features”

Although tools are available, Dr. Kalish said pediatricians don’t need to make a diagnosis, and instead can refer patients to a geneticist after recognizing clinical features that hint at a genetic etiology.

For pediatricians, the process of deciding whether to refer a patient to a geneticist may entail ruling out nongenetic causes, considering patient and family history, and ultimately deciding whether there is a “compilation of features” that falls outside the norm, she said. Unfortunately, she added, there’s “not a simple list I could just hand out saying, ‘If you see these things, call me.’ ”

Dr. Kalish said pediatricians should be aware that two children with similar features can have different syndromes. She presented case studies of two infants, who both had enlarged tongues and older mothers.

One child had hallmarks that pointed to Beckwith-Wiedemann syndrome: conception with in vitro fertilization, length in the 98th percentile, a long umbilical cord, nevus simplex birthmarks, and labial and leg asymmetry.

The other baby had features aligned with Down syndrome: a heart murmur, upward slanting eyes, and a single crease on the palm.

In some cases, isolated features such as the shape, slant, or spacing of eyes, or the presence of creases on the ears, may simply be familial or inherited traits, Dr. Kalish said.

She noted that “there’s been a lot of work in genetics in the past few years to show what syndromes look like” in diverse populations. The American Journal of Medical Genetics Part A has published a series of reports on the topic.

Dr. Kalish reported no relevant financial relationships.

A version of this article first appeared on Medscape.com.

You’re rounding in the nursery and informed of the following about one of your new patients: He’s a 38-week-old infant delivered to a mother diagnosed with syphilis at 12 weeks’ gestation at her initial prenatal visit. Her rapid plasma reagin (RPR) was 1:64 and the fluorescent treponemal antibody–absorption (FTA-ABS) test was positive. By report she was appropriately treated. Maternal RPRs obtained at 18 and 28 weeks’ gestation were 1:16 and 1:4, respectively. Maternal RPR at delivery and the infant’s RPR obtained shortly after birth were both 1:4. The mother wants to know if her baby is infected.

One result of syphilis during pregnancy is intrauterine infection and resultant congenital disease in the infant. Before you answer this mother, let’s discuss syphilis.

Congenital syphilis is a significant public health problem. In 2021, there were a total of 2,677 cases reported for a rate of 74.1 per 100,000 live births. Between 2020 and 2021, the number of cases of congenital syphilis increased 24.1% (2,158-2,677 cases), concurrent with a 45.8% increase (10.7-15.6 per 100,000) in the rate of primary and secondary syphilis in women aged 15-44 years. Between 2012 and 2021, the number of cases of congenital syphilis increased 701.5% (334-2,677 cases) and the increase in rates of primary and secondary syphilis in women aged 15-44 was 642.9% over the same period.

Why are the rates of congenital syphilis increasing? Most cases result from a lack of prenatal care and thus no testing for syphilis. The next most common cause is inadequate maternal treatment.

Congenital syphilis usually is acquired through transplacental transmission of spirochetes in the maternal bloodstream. Occasionally, it occurs at delivery via direct contact with maternal lesions. It is not transmitted in breast milk. Transmission of syphilis:

• Can occur any time during pregnancy.
• Is more likely to occur in women with untreated primary or secondary disease (60%-100%).
• Is approximately 40% in those with early latent syphilis and less than 8% in mothers with late latent syphilis.
• Is higher in women coinfected with HIV since they more frequently receive no prenatal care and their disease is inadequately treated.

Coinfection with syphilis may also increase the rate of mother-to-child transmission of HIV.

Untreated early syphilis during pregnancy results in spontaneous abortion, stillbirth, or perinatal death in up to 40% of cases. Infected newborns with early congenital syphilis can be asymptomatic or have evidence of hepatosplenomegaly, generalized lymphadenopathy, nasal discharge that is occasionally bloody, rash, and skeletal abnormalities (osteochondritis and periostitis). Other manifestations include edema, hemolytic anemia, jaundice, pneumonia, pseudoparalysis, and thrombocytopenia. Asymptomatic infants may have abnormal cerebrospinal fluid findings including elevated CSF white cell count, elevated protein, and a reactive venereal disease research laboratory test.

Late congenital syphilis, defined as the onset of symptoms after 2 years of age is secondary to scarring or persistent inflammation and gumma formation in a variety of tissues. It occurs in up to 40% of cases of untreated maternal disease. Most cases can be prevented by maternal treatment and treatment of the infant within the first 3 months of life. Common clinical manifestations include interstitial keratitis, sensorineural hearing loss, frontal bossing, saddle nose, Hutchinson teeth, mulberry molars, perforation of the hard palate, anterior bowing of the tibia (saber shins), and other skeletal abnormalities.

Diagnostic tests. Maternal diagnosis is dependent upon knowing the results of both a nontreponemal (RPR, VDRL) and a confirmatory treponemal test (TP-PA, TP-EIA, TP-CIA, FTA-ABS,) before or at delivery. TP-PA is the preferred test. When maternal disease is confirmed, the newborn should have the same quantitative nontreponemal test as the mother. A confirmatory treponemal test is not required

Evaluation and treatment. It’s imperative that children born to mothers with a reactive test, regardless of their treatment status, have a thorough exam performed before hospital discharge. The provider must determine what additional interventions should be performed.

The American Academy of Pediatrics and the Centers for Disease Control and Prevention (www.cdc.gov/std/treatment-guidelines/congenital-syphilis.htm) have developed standard algorithms for the diagnostic approach and treatment of infants born to mothers with reactive serologic tests for syphilis. It is available in the Red Book for AAP members (https://publications.aap.org/redbook). Recommendations based on various scenarios for neonates up to 1 month of age include proven or highly probable congenital syphilis, possible congenital syphilis, congenital syphilis less likely, and congenital syphilis unlikely. It is beyond the scope of this article to list the criteria and evaluation for each scenario. The reader is referred to the algorithm.

If syphilis is suspected in infants or children older than 1 month, the challenge is to determine if it is untreated congenital syphilis or acquired syphilis. Maternal syphilis status should be determined. Evaluation for congenital syphilis in this age group includes CSF analysis for VDRL, cell count and protein, CBC with differential and platelets, hepatic panel, abdominal ultrasound, long-bone radiographs, chest radiograph, neuroimaging, auditory brain stem response, and HIV testing.

Let’s go back to your patient. The mother was diagnosed with syphilis during pregnancy. You confirm that she was treated with benzathine penicillin G, and the course was completed at least 4 weeks before delivery. Treatment with any other drug during pregnancy is not appropriate. The RPR has declined, and the infant’s titer is equal to or less than four times the maternal titer. The exam is significant for generalized adenopathy and slightly bloody nasal discharge. This infant has two findings consistent with congenital syphilis regardless of RPR titer or treatment status. This places him in the proven or highly probable congenital syphilis group. Management includes CSF analysis (VDRL, cell count, and protein), CBC with differential and platelet count, and treatment with penicillin G for 10 days. Additional tests as clinically indicated include: long-bone radiograph, chest radiography, aspartate aminotranferase and alanine aminotransferase levels, neuroimaging, ophthalmologic exam, and auditory brain stem response. Despite maternal treatment, this newborn has congenital syphilis. The same nontreponemal test should be obtained every 2-3 months until it is nonreactive. It should be nonreactive by 6 months. If the infection persists to 6-12 months post treatment, reevaluation including CSF analysis and retreatment may be indicated.

Congenital syphilis can be prevented by maternal screening, diagnosis, and treatment. When that fails it is up to us to diagnosis and adequately treat our patients.

Dr. Word is a pediatric infectious disease specialist and director of the Houston Travel Medicine Clinic. She said she had no relevant financial disclosures. Email her at pdnews@mdedge.com.

You’re rounding in the nursery and informed of the following about one of your new patients: He’s a 38-week-old infant delivered to a mother diagnosed with syphilis at 12 weeks’ gestation at her initial prenatal visit. Her rapid plasma reagin (RPR) was 1:64 and the fluorescent treponemal antibody–absorption (FTA-ABS) test was positive. By report she was appropriately treated. Maternal RPRs obtained at 18 and 28 weeks’ gestation were 1:16 and 1:4, respectively. Maternal RPR at delivery and the infant’s RPR obtained shortly after birth were both 1:4. The mother wants to know if her baby is infected.

One result of syphilis during pregnancy is intrauterine infection and resultant congenital disease in the infant. Before you answer this mother, let’s discuss syphilis.

Congenital syphilis is a significant public health problem. In 2021, there were a total of 2,677 cases reported for a rate of 74.1 per 100,000 live births. Between 2020 and 2021, the number of cases of congenital syphilis increased 24.1% (2,158-2,677 cases), concurrent with a 45.8% increase (10.7-15.6 per 100,000) in the rate of primary and secondary syphilis in women aged 15-44 years. Between 2012 and 2021, the number of cases of congenital syphilis increased 701.5% (334-2,677 cases) and the increase in rates of primary and secondary syphilis in women aged 15-44 was 642.9% over the same period.

Why are the rates of congenital syphilis increasing? Most cases result from a lack of prenatal care and thus no testing for syphilis. The next most common cause is inadequate maternal treatment.

Congenital syphilis usually is acquired through transplacental transmission of spirochetes in the maternal bloodstream. Occasionally, it occurs at delivery via direct contact with maternal lesions. It is not transmitted in breast milk. Transmission of syphilis:

• Can occur any time during pregnancy.
• Is more likely to occur in women with untreated primary or secondary disease (60%-100%).
• Is approximately 40% in those with early latent syphilis and less than 8% in mothers with late latent syphilis.
• Is higher in women coinfected with HIV since they more frequently receive no prenatal care and their disease is inadequately treated.

Coinfection with syphilis may also increase the rate of mother-to-child transmission of HIV.

Untreated early syphilis during pregnancy results in spontaneous abortion, stillbirth, or perinatal death in up to 40% of cases. Infected newborns with early congenital syphilis can be asymptomatic or have evidence of hepatosplenomegaly, generalized lymphadenopathy, nasal discharge that is occasionally bloody, rash, and skeletal abnormalities (osteochondritis and periostitis). Other manifestations include edema, hemolytic anemia, jaundice, pneumonia, pseudoparalysis, and thrombocytopenia. Asymptomatic infants may have abnormal cerebrospinal fluid findings including elevated CSF white cell count, elevated protein, and a reactive venereal disease research laboratory test.

Late congenital syphilis, defined as the onset of symptoms after 2 years of age is secondary to scarring or persistent inflammation and gumma formation in a variety of tissues. It occurs in up to 40% of cases of untreated maternal disease. Most cases can be prevented by maternal treatment and treatment of the infant within the first 3 months of life. Common clinical manifestations include interstitial keratitis, sensorineural hearing loss, frontal bossing, saddle nose, Hutchinson teeth, mulberry molars, perforation of the hard palate, anterior bowing of the tibia (saber shins), and other skeletal abnormalities.

Diagnostic tests. Maternal diagnosis is dependent upon knowing the results of both a nontreponemal (RPR, VDRL) and a confirmatory treponemal test (TP-PA, TP-EIA, TP-CIA, FTA-ABS,) before or at delivery. TP-PA is the preferred test. When maternal disease is confirmed, the newborn should have the same quantitative nontreponemal test as the mother. A confirmatory treponemal test is not required

Evaluation and treatment. It’s imperative that children born to mothers with a reactive test, regardless of their treatment status, have a thorough exam performed before hospital discharge. The provider must determine what additional interventions should be performed.

The American Academy of Pediatrics and the Centers for Disease Control and Prevention (www.cdc.gov/std/treatment-guidelines/congenital-syphilis.htm) have developed standard algorithms for the diagnostic approach and treatment of infants born to mothers with reactive serologic tests for syphilis. It is available in the Red Book for AAP members (https://publications.aap.org/redbook). Recommendations based on various scenarios for neonates up to 1 month of age include proven or highly probable congenital syphilis, possible congenital syphilis, congenital syphilis less likely, and congenital syphilis unlikely. It is beyond the scope of this article to list the criteria and evaluation for each scenario. The reader is referred to the algorithm.

If syphilis is suspected in infants or children older than 1 month, the challenge is to determine if it is untreated congenital syphilis or acquired syphilis. Maternal syphilis status should be determined. Evaluation for congenital syphilis in this age group includes CSF analysis for VDRL, cell count and protein, CBC with differential and platelets, hepatic panel, abdominal ultrasound, long-bone radiographs, chest radiograph, neuroimaging, auditory brain stem response, and HIV testing.

Let’s go back to your patient. The mother was diagnosed with syphilis during pregnancy. You confirm that she was treated with benzathine penicillin G, and the course was completed at least 4 weeks before delivery. Treatment with any other drug during pregnancy is not appropriate. The RPR has declined, and the infant’s titer is equal to or less than four times the maternal titer. The exam is significant for generalized adenopathy and slightly bloody nasal discharge. This infant has two findings consistent with congenital syphilis regardless of RPR titer or treatment status. This places him in the proven or highly probable congenital syphilis group. Management includes CSF analysis (VDRL, cell count, and protein), CBC with differential and platelet count, and treatment with penicillin G for 10 days. Additional tests as clinically indicated include: long-bone radiograph, chest radiography, aspartate aminotranferase and alanine aminotransferase levels, neuroimaging, ophthalmologic exam, and auditory brain stem response. Despite maternal treatment, this newborn has congenital syphilis. The same nontreponemal test should be obtained every 2-3 months until it is nonreactive. It should be nonreactive by 6 months. If the infection persists to 6-12 months post treatment, reevaluation including CSF analysis and retreatment may be indicated.

Congenital syphilis can be prevented by maternal screening, diagnosis, and treatment. When that fails it is up to us to diagnosis and adequately treat our patients.

Dr. Word is a pediatric infectious disease specialist and director of the Houston Travel Medicine Clinic. She said she had no relevant financial disclosures. Email her at pdnews@mdedge.com.

You’re rounding in the nursery and informed of the following about one of your new patients: He’s a 38-week-old infant delivered to a mother diagnosed with syphilis at 12 weeks’ gestation at her initial prenatal visit. Her rapid plasma reagin (RPR) was 1:64 and the fluorescent treponemal antibody–absorption (FTA-ABS) test was positive. By report she was appropriately treated. Maternal RPRs obtained at 18 and 28 weeks’ gestation were 1:16 and 1:4, respectively. Maternal RPR at delivery and the infant’s RPR obtained shortly after birth were both 1:4. The mother wants to know if her baby is infected.

One result of syphilis during pregnancy is intrauterine infection and resultant congenital disease in the infant. Before you answer this mother, let’s discuss syphilis.

Congenital syphilis is a significant public health problem. In 2021, there were a total of 2,677 cases reported for a rate of 74.1 per 100,000 live births. Between 2020 and 2021, the number of cases of congenital syphilis increased 24.1% (2,158-2,677 cases), concurrent with a 45.8% increase (10.7-15.6 per 100,000) in the rate of primary and secondary syphilis in women aged 15-44 years. Between 2012 and 2021, the number of cases of congenital syphilis increased 701.5% (334-2,677 cases) and the increase in rates of primary and secondary syphilis in women aged 15-44 was 642.9% over the same period.

Why are the rates of congenital syphilis increasing? Most cases result from a lack of prenatal care and thus no testing for syphilis. The next most common cause is inadequate maternal treatment.

Congenital syphilis usually is acquired through transplacental transmission of spirochetes in the maternal bloodstream. Occasionally, it occurs at delivery via direct contact with maternal lesions. It is not transmitted in breast milk. Transmission of syphilis:

• Can occur any time during pregnancy.
• Is more likely to occur in women with untreated primary or secondary disease (60%-100%).
• Is approximately 40% in those with early latent syphilis and less than 8% in mothers with late latent syphilis.
• Is higher in women coinfected with HIV since they more frequently receive no prenatal care and their disease is inadequately treated.

Coinfection with syphilis may also increase the rate of mother-to-child transmission of HIV.

Untreated early syphilis during pregnancy results in spontaneous abortion, stillbirth, or perinatal death in up to 40% of cases. Infected newborns with early congenital syphilis can be asymptomatic or have evidence of hepatosplenomegaly, generalized lymphadenopathy, nasal discharge that is occasionally bloody, rash, and skeletal abnormalities (osteochondritis and periostitis). Other manifestations include edema, hemolytic anemia, jaundice, pneumonia, pseudoparalysis, and thrombocytopenia. Asymptomatic infants may have abnormal cerebrospinal fluid findings including elevated CSF white cell count, elevated protein, and a reactive venereal disease research laboratory test.

Late congenital syphilis, defined as the onset of symptoms after 2 years of age is secondary to scarring or persistent inflammation and gumma formation in a variety of tissues. It occurs in up to 40% of cases of untreated maternal disease. Most cases can be prevented by maternal treatment and treatment of the infant within the first 3 months of life. Common clinical manifestations include interstitial keratitis, sensorineural hearing loss, frontal bossing, saddle nose, Hutchinson teeth, mulberry molars, perforation of the hard palate, anterior bowing of the tibia (saber shins), and other skeletal abnormalities.

Diagnostic tests. Maternal diagnosis is dependent upon knowing the results of both a nontreponemal (RPR, VDRL) and a confirmatory treponemal test (TP-PA, TP-EIA, TP-CIA, FTA-ABS,) before or at delivery. TP-PA is the preferred test. When maternal disease is confirmed, the newborn should have the same quantitative nontreponemal test as the mother. A confirmatory treponemal test is not required

Evaluation and treatment. It’s imperative that children born to mothers with a reactive test, regardless of their treatment status, have a thorough exam performed before hospital discharge. The provider must determine what additional interventions should be performed.

The American Academy of Pediatrics and the Centers for Disease Control and Prevention (www.cdc.gov/std/treatment-guidelines/congenital-syphilis.htm) have developed standard algorithms for the diagnostic approach and treatment of infants born to mothers with reactive serologic tests for syphilis. It is available in the Red Book for AAP members (https://publications.aap.org/redbook). Recommendations based on various scenarios for neonates up to 1 month of age include proven or highly probable congenital syphilis, possible congenital syphilis, congenital syphilis less likely, and congenital syphilis unlikely. It is beyond the scope of this article to list the criteria and evaluation for each scenario. The reader is referred to the algorithm.

If syphilis is suspected in infants or children older than 1 month, the challenge is to determine if it is untreated congenital syphilis or acquired syphilis. Maternal syphilis status should be determined. Evaluation for congenital syphilis in this age group includes CSF analysis for VDRL, cell count and protein, CBC with differential and platelets, hepatic panel, abdominal ultrasound, long-bone radiographs, chest radiograph, neuroimaging, auditory brain stem response, and HIV testing.

Let’s go back to your patient. The mother was diagnosed with syphilis during pregnancy. You confirm that she was treated with benzathine penicillin G, and the course was completed at least 4 weeks before delivery. Treatment with any other drug during pregnancy is not appropriate. The RPR has declined, and the infant’s titer is equal to or less than four times the maternal titer. The exam is significant for generalized adenopathy and slightly bloody nasal discharge. This infant has two findings consistent with congenital syphilis regardless of RPR titer or treatment status. This places him in the proven or highly probable congenital syphilis group. Management includes CSF analysis (VDRL, cell count, and protein), CBC with differential and platelet count, and treatment with penicillin G for 10 days. Additional tests as clinically indicated include: long-bone radiograph, chest radiography, aspartate aminotranferase and alanine aminotransferase levels, neuroimaging, ophthalmologic exam, and auditory brain stem response. Despite maternal treatment, this newborn has congenital syphilis. The same nontreponemal test should be obtained every 2-3 months until it is nonreactive. It should be nonreactive by 6 months. If the infection persists to 6-12 months post treatment, reevaluation including CSF analysis and retreatment may be indicated.

Congenital syphilis can be prevented by maternal screening, diagnosis, and treatment. When that fails it is up to us to diagnosis and adequately treat our patients.

Dr. Word is a pediatric infectious disease specialist and director of the Houston Travel Medicine Clinic. She said she had no relevant financial disclosures. Email her at pdnews@mdedge.com.

Congenital cytomegalovirus cases declined significantly during the COVID-19 pandemic, compared with a period before the pandemic, based on data from nearly 20,000 newborns.

A study originated to explore racial and ethnic differences in congenital cytomegalovirus (cCMV) began in 2016, but was halted in April 2020 because of the COVID-19 pandemic, wrote Mark R. Schleiss, MD, of the University of Minnesota, Minneapolis, and colleagues. The study resumed for a period from August 2020 to December 2021, and the researchers compared data on cCMV before and during the pandemic. The prepandemic period included data from April 2016 to March 2020.

“We have been screening for congenital CMV infection in Minnesota for 6 years as a part of a multicenter collaborative study that I lead as the primary investigator,” Dr. Schleiss said in an interview. “Our efforts have contributed to the decision, vetted through the Minnesota Legislature and signed into law in 2021 (the “Vivian Act”), to begin universal screening for all newborns in Minnesota in 2023. In the context of this ongoing screening/surveillance study, it was important and scientifically very interesting to examine the impact of the COVID-19 pandemic on the risk of congenital CMV infection,” he explained.

The findings were published in a research letter in JAMA Network Open. A total of 15,697 newborns were screened before the pandemic and 4,222 were screened during the pandemic period at six hospitals. The majority of the mothers participating during the prepandemic and pandemic periods were non-Hispanic White (71% and 60%, respectively).

Overall, the percentage screened prevalence for cCMV was 79% in the prepandemic period and 21% during the pandemic, with rates of 4.5 per 1,000 and 1.4 per 1,000, respectively.

Although the highest percentage of cCMV cases occurred in newborns of mothers aged 25 years and older (86%), the prevalence was highest among newborns of mothers aged 24 years and younger (6.0 per 1,000). The prevalence of cCMV overall was higher in infants of non-Hispanic Black mothers vs. non-Hispanic White mothers, but not significantly different (5.1 per 1,000 vs. 4.6 per 1,000) and among second newborns vs. first newborns (6.0 vs. 3.2 per 1,000, respectively).

Factors related to COVID-19, including reduced day care attendance, behavioral changes, and mitigation measures at childcare facilities such as smaller classes and increased hand hygiene and disinfection may have contributed to this decrease in cCMV in the pandemic period, the researchers wrote in their discussion.

The comparable prevalence in newborns of non-Hispanic Black and White mothers contrasts with previous studies showing a higher prevalence in children of non-Hispanic Black mothers, the researchers noted in their discussion.

The study was limited by several factors, including the variation in time points for enrollment at different sites and the exclusion of families in the newborn nursery with positive COVID-19 results during the pandemic, they wrote. More research is needed on the potential effects of behavioral interventions to reduce CMV risk during pregnancy, as well as future CMV vaccination for childbearing-aged women and young children, they concluded.

However, the researchers were surprised by the impact of COVID-19 on the prevalence of cCMV, Dr. Schleiss said in an interview. “We have had the knowledge for many years that CMV infections in young women are commonly acquired through interactions with their toddlers. These interactions – sharing food, wiping drool and nasal discharge from the toddler’s nose, changing diapers, kissing the child on the mouth – can transmit CMV,” he said. In addition, toddlers may acquire CMV from group day care; the child then sheds CMV and transmits the virus to their pregnant mother, who then transmits the virus across the placenta, leading to cCMV infection in the newborn, Dr. Schleiss explained.

Although the researchers expected a decrease in CMV in the wake of closures of group day care, increased home schooling, decreased interactions among children, hygienic precautions, and social isolation, the decrease exceeded their expectations, said Dr. Schleiss. “Our previous work showed that in the 5-year period leading up to the pandemic, about one baby in every 200 births was born with CMV. Between August 2020 and December 2021, the number decreased to one baby in every 1,000 births,” a difference he and his team found striking.

The message from the study is that CMV can be prevented, said Dr. Schleiss. “Hygienic precautions during pregnancy had a big impact. Since congenital CMV infection is the most common congenital infection in the United States, and probably globally, that causes disabilities in children, the implications are highly significant,” he said. “The hygienic precautions we all have engaged in during the pandemic, such as masking, handwashing, and infection prevention behaviors, were almost certainly responsible for the reduction in CMV transmission, which in turn protected mothers and newborns from the potentially devastating effects of the CMV virus,” he noted.

Looking ahead, “Vaccines are moving forward in clinical trials that aim to confer immunity on young women of childbearing age to protect future pregnancies against transmission of CMV to the newborn infant; it would be very important to examine in future studies whether hygienic precautions would have the same impact as a potential vaccine,” Dr. Schleiss said. More research is needed to examine the effect of education of women about CMV transmission, he added. “We think it is very important to share this knowledge from our study with the pediatric community, since pediatricians can be important in counseling women about future pregnancies and the risks of CMV acquisition and transmission,” he noted.

Implications for other viruses

Although CMV poses minimal risk for healthy populations, irreversible complications for infants born with congenital CMV, especially hearing loss, are very concerning, said Catherine Haut, DNP, CPNP-AC/PC, a pediatric nurse practitioner in Rehoboth Beach, Del., in an interview.

“The study of viral transmission during a time of isolation, masking, and other mitigation procedures for COVID-19 assists in awareness that other viruses may also be limited with the use of these measures,” she said.

Dr. Haut was not surprised by the findings, given that CMV is transmitted primarily through direct contact with body fluids and that more than 50% of American adults have been infected by age 40, according to the Centers for Disease Control and Prevention, she said.

The take-home message for pediatricians, Dr. Haut said, is measures to prevent transmission of viral infection can yield significant positive health outcomes for the pediatric population; however, the effect of isolation, which has been associated with a higher rate of mental health problems, should not be ignored.

“Despite appropriate statistical analyses and presentation of findings in this study, the population sampled during the pandemic was less than 30% of the pre-COVID sampling, representing a study limitation,” and conducting research in a single state limits generalizability, Dr. Haut noted. “I agree with the authors that additional study is necessary to better understand prevention measures and apply these methods to reduce CMV transmission. Pursuit of CMV immunization opportunities is also needed,” she said.

The study was supported by the Centers for Disease Control and Prevention, the National Vaccine Program Office, the Minnesota Department of Health Newborn Screening Program, and the University of South Carolina Disability Research and Dissemination Center. Lead author Dr. Schleiss disclosed grants from the CDC, the National Institutes of Health, and the DRDC during the conduct of the study; he also disclosed receiving personal fees from Moderna, Sanofi, GlaxoSmithKline, and Merck unrelated to the study. Dr. Haut had no financial conflicts to disclose and serves on the Editorial Advisory Board of Pediatric News.

Congenital cytomegalovirus cases declined significantly during the COVID-19 pandemic, compared with a period before the pandemic, based on data from nearly 20,000 newborns.

A study originated to explore racial and ethnic differences in congenital cytomegalovirus (cCMV) began in 2016, but was halted in April 2020 because of the COVID-19 pandemic, wrote Mark R. Schleiss, MD, of the University of Minnesota, Minneapolis, and colleagues. The study resumed for a period from August 2020 to December 2021, and the researchers compared data on cCMV before and during the pandemic. The prepandemic period included data from April 2016 to March 2020.

“We have been screening for congenital CMV infection in Minnesota for 6 years as a part of a multicenter collaborative study that I lead as the primary investigator,” Dr. Schleiss said in an interview. “Our efforts have contributed to the decision, vetted through the Minnesota Legislature and signed into law in 2021 (the “Vivian Act”), to begin universal screening for all newborns in Minnesota in 2023. In the context of this ongoing screening/surveillance study, it was important and scientifically very interesting to examine the impact of the COVID-19 pandemic on the risk of congenital CMV infection,” he explained.

The findings were published in a research letter in JAMA Network Open. A total of 15,697 newborns were screened before the pandemic and 4,222 were screened during the pandemic period at six hospitals. The majority of the mothers participating during the prepandemic and pandemic periods were non-Hispanic White (71% and 60%, respectively).

Overall, the percentage screened prevalence for cCMV was 79% in the prepandemic period and 21% during the pandemic, with rates of 4.5 per 1,000 and 1.4 per 1,000, respectively.

Although the highest percentage of cCMV cases occurred in newborns of mothers aged 25 years and older (86%), the prevalence was highest among newborns of mothers aged 24 years and younger (6.0 per 1,000). The prevalence of cCMV overall was higher in infants of non-Hispanic Black mothers vs. non-Hispanic White mothers, but not significantly different (5.1 per 1,000 vs. 4.6 per 1,000) and among second newborns vs. first newborns (6.0 vs. 3.2 per 1,000, respectively).

Factors related to COVID-19, including reduced day care attendance, behavioral changes, and mitigation measures at childcare facilities such as smaller classes and increased hand hygiene and disinfection may have contributed to this decrease in cCMV in the pandemic period, the researchers wrote in their discussion.

The comparable prevalence in newborns of non-Hispanic Black and White mothers contrasts with previous studies showing a higher prevalence in children of non-Hispanic Black mothers, the researchers noted in their discussion.

The study was limited by several factors, including the variation in time points for enrollment at different sites and the exclusion of families in the newborn nursery with positive COVID-19 results during the pandemic, they wrote. More research is needed on the potential effects of behavioral interventions to reduce CMV risk during pregnancy, as well as future CMV vaccination for childbearing-aged women and young children, they concluded.

However, the researchers were surprised by the impact of COVID-19 on the prevalence of cCMV, Dr. Schleiss said in an interview. “We have had the knowledge for many years that CMV infections in young women are commonly acquired through interactions with their toddlers. These interactions – sharing food, wiping drool and nasal discharge from the toddler’s nose, changing diapers, kissing the child on the mouth – can transmit CMV,” he said. In addition, toddlers may acquire CMV from group day care; the child then sheds CMV and transmits the virus to their pregnant mother, who then transmits the virus across the placenta, leading to cCMV infection in the newborn, Dr. Schleiss explained.

Although the researchers expected a decrease in CMV in the wake of closures of group day care, increased home schooling, decreased interactions among children, hygienic precautions, and social isolation, the decrease exceeded their expectations, said Dr. Schleiss. “Our previous work showed that in the 5-year period leading up to the pandemic, about one baby in every 200 births was born with CMV. Between August 2020 and December 2021, the number decreased to one baby in every 1,000 births,” a difference he and his team found striking.

The message from the study is that CMV can be prevented, said Dr. Schleiss. “Hygienic precautions during pregnancy had a big impact. Since congenital CMV infection is the most common congenital infection in the United States, and probably globally, that causes disabilities in children, the implications are highly significant,” he said. “The hygienic precautions we all have engaged in during the pandemic, such as masking, handwashing, and infection prevention behaviors, were almost certainly responsible for the reduction in CMV transmission, which in turn protected mothers and newborns from the potentially devastating effects of the CMV virus,” he noted.

Looking ahead, “Vaccines are moving forward in clinical trials that aim to confer immunity on young women of childbearing age to protect future pregnancies against transmission of CMV to the newborn infant; it would be very important to examine in future studies whether hygienic precautions would have the same impact as a potential vaccine,” Dr. Schleiss said. More research is needed to examine the effect of education of women about CMV transmission, he added. “We think it is very important to share this knowledge from our study with the pediatric community, since pediatricians can be important in counseling women about future pregnancies and the risks of CMV acquisition and transmission,” he noted.

Implications for other viruses

Although CMV poses minimal risk for healthy populations, irreversible complications for infants born with congenital CMV, especially hearing loss, are very concerning, said Catherine Haut, DNP, CPNP-AC/PC, a pediatric nurse practitioner in Rehoboth Beach, Del., in an interview.

“The study of viral transmission during a time of isolation, masking, and other mitigation procedures for COVID-19 assists in awareness that other viruses may also be limited with the use of these measures,” she said.

Dr. Haut was not surprised by the findings, given that CMV is transmitted primarily through direct contact with body fluids and that more than 50% of American adults have been infected by age 40, according to the Centers for Disease Control and Prevention, she said.

The take-home message for pediatricians, Dr. Haut said, is measures to prevent transmission of viral infection can yield significant positive health outcomes for the pediatric population; however, the effect of isolation, which has been associated with a higher rate of mental health problems, should not be ignored.

“Despite appropriate statistical analyses and presentation of findings in this study, the population sampled during the pandemic was less than 30% of the pre-COVID sampling, representing a study limitation,” and conducting research in a single state limits generalizability, Dr. Haut noted. “I agree with the authors that additional study is necessary to better understand prevention measures and apply these methods to reduce CMV transmission. Pursuit of CMV immunization opportunities is also needed,” she said.

The study was supported by the Centers for Disease Control and Prevention, the National Vaccine Program Office, the Minnesota Department of Health Newborn Screening Program, and the University of South Carolina Disability Research and Dissemination Center. Lead author Dr. Schleiss disclosed grants from the CDC, the National Institutes of Health, and the DRDC during the conduct of the study; he also disclosed receiving personal fees from Moderna, Sanofi, GlaxoSmithKline, and Merck unrelated to the study. Dr. Haut had no financial conflicts to disclose and serves on the Editorial Advisory Board of Pediatric News.

Congenital cytomegalovirus cases declined significantly during the COVID-19 pandemic, compared with a period before the pandemic, based on data from nearly 20,000 newborns.

A study originated to explore racial and ethnic differences in congenital cytomegalovirus (cCMV) began in 2016, but was halted in April 2020 because of the COVID-19 pandemic, wrote Mark R. Schleiss, MD, of the University of Minnesota, Minneapolis, and colleagues. The study resumed for a period from August 2020 to December 2021, and the researchers compared data on cCMV before and during the pandemic. The prepandemic period included data from April 2016 to March 2020.

“We have been screening for congenital CMV infection in Minnesota for 6 years as a part of a multicenter collaborative study that I lead as the primary investigator,” Dr. Schleiss said in an interview. “Our efforts have contributed to the decision, vetted through the Minnesota Legislature and signed into law in 2021 (the “Vivian Act”), to begin universal screening for all newborns in Minnesota in 2023. In the context of this ongoing screening/surveillance study, it was important and scientifically very interesting to examine the impact of the COVID-19 pandemic on the risk of congenital CMV infection,” he explained.

The findings were published in a research letter in JAMA Network Open. A total of 15,697 newborns were screened before the pandemic and 4,222 were screened during the pandemic period at six hospitals. The majority of the mothers participating during the prepandemic and pandemic periods were non-Hispanic White (71% and 60%, respectively).

Overall, the percentage screened prevalence for cCMV was 79% in the prepandemic period and 21% during the pandemic, with rates of 4.5 per 1,000 and 1.4 per 1,000, respectively.

Although the highest percentage of cCMV cases occurred in newborns of mothers aged 25 years and older (86%), the prevalence was highest among newborns of mothers aged 24 years and younger (6.0 per 1,000). The prevalence of cCMV overall was higher in infants of non-Hispanic Black mothers vs. non-Hispanic White mothers, but not significantly different (5.1 per 1,000 vs. 4.6 per 1,000) and among second newborns vs. first newborns (6.0 vs. 3.2 per 1,000, respectively).

Factors related to COVID-19, including reduced day care attendance, behavioral changes, and mitigation measures at childcare facilities such as smaller classes and increased hand hygiene and disinfection may have contributed to this decrease in cCMV in the pandemic period, the researchers wrote in their discussion.

The comparable prevalence in newborns of non-Hispanic Black and White mothers contrasts with previous studies showing a higher prevalence in children of non-Hispanic Black mothers, the researchers noted in their discussion.

The study was limited by several factors, including the variation in time points for enrollment at different sites and the exclusion of families in the newborn nursery with positive COVID-19 results during the pandemic, they wrote. More research is needed on the potential effects of behavioral interventions to reduce CMV risk during pregnancy, as well as future CMV vaccination for childbearing-aged women and young children, they concluded.

However, the researchers were surprised by the impact of COVID-19 on the prevalence of cCMV, Dr. Schleiss said in an interview. “We have had the knowledge for many years that CMV infections in young women are commonly acquired through interactions with their toddlers. These interactions – sharing food, wiping drool and nasal discharge from the toddler’s nose, changing diapers, kissing the child on the mouth – can transmit CMV,” he said. In addition, toddlers may acquire CMV from group day care; the child then sheds CMV and transmits the virus to their pregnant mother, who then transmits the virus across the placenta, leading to cCMV infection in the newborn, Dr. Schleiss explained.

Although the researchers expected a decrease in CMV in the wake of closures of group day care, increased home schooling, decreased interactions among children, hygienic precautions, and social isolation, the decrease exceeded their expectations, said Dr. Schleiss. “Our previous work showed that in the 5-year period leading up to the pandemic, about one baby in every 200 births was born with CMV. Between August 2020 and December 2021, the number decreased to one baby in every 1,000 births,” a difference he and his team found striking.

The message from the study is that CMV can be prevented, said Dr. Schleiss. “Hygienic precautions during pregnancy had a big impact. Since congenital CMV infection is the most common congenital infection in the United States, and probably globally, that causes disabilities in children, the implications are highly significant,” he said. “The hygienic precautions we all have engaged in during the pandemic, such as masking, handwashing, and infection prevention behaviors, were almost certainly responsible for the reduction in CMV transmission, which in turn protected mothers and newborns from the potentially devastating effects of the CMV virus,” he noted.

Looking ahead, “Vaccines are moving forward in clinical trials that aim to confer immunity on young women of childbearing age to protect future pregnancies against transmission of CMV to the newborn infant; it would be very important to examine in future studies whether hygienic precautions would have the same impact as a potential vaccine,” Dr. Schleiss said. More research is needed to examine the effect of education of women about CMV transmission, he added. “We think it is very important to share this knowledge from our study with the pediatric community, since pediatricians can be important in counseling women about future pregnancies and the risks of CMV acquisition and transmission,” he noted.

Implications for other viruses

Although CMV poses minimal risk for healthy populations, irreversible complications for infants born with congenital CMV, especially hearing loss, are very concerning, said Catherine Haut, DNP, CPNP-AC/PC, a pediatric nurse practitioner in Rehoboth Beach, Del., in an interview.

“The study of viral transmission during a time of isolation, masking, and other mitigation procedures for COVID-19 assists in awareness that other viruses may also be limited with the use of these measures,” she said.

Dr. Haut was not surprised by the findings, given that CMV is transmitted primarily through direct contact with body fluids and that more than 50% of American adults have been infected by age 40, according to the Centers for Disease Control and Prevention, she said.

The take-home message for pediatricians, Dr. Haut said, is measures to prevent transmission of viral infection can yield significant positive health outcomes for the pediatric population; however, the effect of isolation, which has been associated with a higher rate of mental health problems, should not be ignored.

“Despite appropriate statistical analyses and presentation of findings in this study, the population sampled during the pandemic was less than 30% of the pre-COVID sampling, representing a study limitation,” and conducting research in a single state limits generalizability, Dr. Haut noted. “I agree with the authors that additional study is necessary to better understand prevention measures and apply these methods to reduce CMV transmission. Pursuit of CMV immunization opportunities is also needed,” she said.

The study was supported by the Centers for Disease Control and Prevention, the National Vaccine Program Office, the Minnesota Department of Health Newborn Screening Program, and the University of South Carolina Disability Research and Dissemination Center. Lead author Dr. Schleiss disclosed grants from the CDC, the National Institutes of Health, and the DRDC during the conduct of the study; he also disclosed receiving personal fees from Moderna, Sanofi, GlaxoSmithKline, and Merck unrelated to the study. Dr. Haut had no financial conflicts to disclose and serves on the Editorial Advisory Board of Pediatric News.

The Special Supplemental Nutrition Program for Women, Infants, and Children (WIC) leads to improved birth outcomes and lower infant mortality, and possibly better preventive childcare, suggests new research.

How exactly the national program achieves these outcomes, however, remains unclear, and study quality shows room for improvement, reported co–lead authors Maya Venkataramani, MD, MPH and S. Michelle Ogunwole, MD, PhD of Johns Hopkins University, Baltimore, and colleagues.

The WIC program, which has been serving low-income women and young children since 1974, “provides supplemental foods, nutrition education and breastfeeding support, screening and referrals to medical and social services, and support for high-risk pregnancies,” the investigators wrote in Annals of Internal Medicine. The U.S. Food and Nutrition Service administers the program.

The authors conducted a systematic review of 20 observational studies aimed at determining the impacts of WIC participation on maternal, neonatal-birth, and infant-child health outcomes.

All studies included in the review began in or after 2009, when the WIC food package was revised to better address diet-related chronic diseases. For inclusion in the review, studies were required to have a WIC-eligible comparison group. Included research also evaluated the relationship between WIC participation and the prespecified health outcomes.

“We found only 20 studies that fulfilled our rigorous study inclusion criteria for these specific outcomes,” the investigators wrote. “In some areas, the evidence was absent, and in others, the strength of evidence (SOE) was moderate or low.”

Six outcome categories were assessed: maternal morbidity, maternal pregnancy outcomes, maternal health behaviors, maternal health care utilization, child morbidity, and childhood health care utilization. Of these, maternal health care utilization had the most robust body of evidence, while data from studies evaluating maternal morbidity and child morbidity were deemed insufficient.

Based on eligible studies, WIC participation was associated with reduced risks of insufficient weight gain in pregnancy, preterm birth, low infant birthweight, and infant mortality. Participation was also associated with an increased likelihood of infant and child health care utilization, such as routine immunizations.
 

Growing evidence should drive enrollment

“Growing evidence points to WIC as a way to reduce risk of preterm birth and other adverse outcomes,” said Laura Jelliffe-Pawlowski, PhD, MS, professor at the University of California, San Francisco and a director for the UCSF California Preterm Birth Initiative.

Dr. Jelliffe-Pawlowski, who conducted a California-based study included in the paper, said the review is noteworthy because it shows that WIC-associated benefits are observed across locations.

“It’s not just in California; it’s across the country,” she said. “It’s a national call to action – where there’s partnership between national-, state- and community-level WIC programs – to make WIC as accessible as possible, and reflect community wants and needs, so that more people enroll, and more people stay enrolled.”

Dr. Jelliffe-Pawlowski’s coauthor on the California study, Rita Hamad, MD, PhD, associate professor of family & community medicine at UCSF and associate director of the UCSF Center for Health Equity, encouraged health care providers to drive WIC enrollment, noting that, presently, only one in four eligible 4-year-olds participates.

“Physicians and other health care stakeholders can help patients benefit from this program by encouraging them to sign up, and even by providing sign-up support in the form of a social worker or other staff member,” Dr. Hamad said. “There is also literature on the types of interventions that improve take-up of safety net programs that providers can look to.”
 

Goals of future research

Optimizing WIC operations, however, is only half the battle, considering the evidence gaps revealed by the review.

“We still need stronger studies that use more rigorous study designs ... to provide more convincing evidence to policymakers, as well as more evidence on long-term impacts,” Dr. Hamad said. “We also need to better understand why take-up is low in these programs despite these potential health benefits. Then we can make sure that economically disadvantaged families receive the benefits for which they are eligible through interventions to improve participation rates.”

Ideally, WIC programs would receive additional funding for independent parties to evaluate health outcomes, according to Ashwini Lakshmanan, MD, MS, MPH, associate professor in the department of health systems science at Kaiser Permanente Bernard J. Tyson School of Medicine, Pasadena, Calif.

Dr. Lakshmanan, who previously evaluated the benefits of WIC participation for high-risk infants, noted that randomized clinical trials would be unethical in this setting, yet data collection can still be “very conscientious and intentional,” with a focus on policy-shaping outcome metrics like immunizations and pediatric health care visits.

“The main point is thinking about it at the forefront, and not retrospectively,” Dr. Lakshmanan said.

Dr. Ogunwole, who led the present review, suggested in a written comment that future studies “could employ robust statistical methods (propensity matching, fixed effects models, etc.) to help reduce bias.”

She also recommended evaluating innovations in WIC programs; for example, adding a health coach, or conducting a cooking skills intervention.

Studies are also needed to better understand the various obstacles to WIC success, such as misconceptions about the program, discrimination, and barriers to enrollment, Dr. Ogunwole added.

“WIC enrollment has been decreasing for a number of years, and this was occurring prepandemic as well,” she said. “More work needs to be done to understand this issue.”

The study was supported by the Agency for Healthcare Research and Quality, U.S. Department of Health & Human Services. The investigators and interviewees disclosed no conflicts of interest.

The Special Supplemental Nutrition Program for Women, Infants, and Children (WIC) leads to improved birth outcomes and lower infant mortality, and possibly better preventive childcare, suggests new research.

How exactly the national program achieves these outcomes, however, remains unclear, and study quality shows room for improvement, reported co–lead authors Maya Venkataramani, MD, MPH and S. Michelle Ogunwole, MD, PhD of Johns Hopkins University, Baltimore, and colleagues.

The WIC program, which has been serving low-income women and young children since 1974, “provides supplemental foods, nutrition education and breastfeeding support, screening and referrals to medical and social services, and support for high-risk pregnancies,” the investigators wrote in Annals of Internal Medicine. The U.S. Food and Nutrition Service administers the program.

The authors conducted a systematic review of 20 observational studies aimed at determining the impacts of WIC participation on maternal, neonatal-birth, and infant-child health outcomes.

All studies included in the review began in or after 2009, when the WIC food package was revised to better address diet-related chronic diseases. For inclusion in the review, studies were required to have a WIC-eligible comparison group. Included research also evaluated the relationship between WIC participation and the prespecified health outcomes.

“We found only 20 studies that fulfilled our rigorous study inclusion criteria for these specific outcomes,” the investigators wrote. “In some areas, the evidence was absent, and in others, the strength of evidence (SOE) was moderate or low.”

Six outcome categories were assessed: maternal morbidity, maternal pregnancy outcomes, maternal health behaviors, maternal health care utilization, child morbidity, and childhood health care utilization. Of these, maternal health care utilization had the most robust body of evidence, while data from studies evaluating maternal morbidity and child morbidity were deemed insufficient.

Based on eligible studies, WIC participation was associated with reduced risks of insufficient weight gain in pregnancy, preterm birth, low infant birthweight, and infant mortality. Participation was also associated with an increased likelihood of infant and child health care utilization, such as routine immunizations.
 

Growing evidence should drive enrollment

“Growing evidence points to WIC as a way to reduce risk of preterm birth and other adverse outcomes,” said Laura Jelliffe-Pawlowski, PhD, MS, professor at the University of California, San Francisco and a director for the UCSF California Preterm Birth Initiative.

Dr. Jelliffe-Pawlowski, who conducted a California-based study included in the paper, said the review is noteworthy because it shows that WIC-associated benefits are observed across locations.

“It’s not just in California; it’s across the country,” she said. “It’s a national call to action – where there’s partnership between national-, state- and community-level WIC programs – to make WIC as accessible as possible, and reflect community wants and needs, so that more people enroll, and more people stay enrolled.”

Dr. Jelliffe-Pawlowski’s coauthor on the California study, Rita Hamad, MD, PhD, associate professor of family & community medicine at UCSF and associate director of the UCSF Center for Health Equity, encouraged health care providers to drive WIC enrollment, noting that, presently, only one in four eligible 4-year-olds participates.

“Physicians and other health care stakeholders can help patients benefit from this program by encouraging them to sign up, and even by providing sign-up support in the form of a social worker or other staff member,” Dr. Hamad said. “There is also literature on the types of interventions that improve take-up of safety net programs that providers can look to.”
 

Goals of future research

Optimizing WIC operations, however, is only half the battle, considering the evidence gaps revealed by the review.

“We still need stronger studies that use more rigorous study designs ... to provide more convincing evidence to policymakers, as well as more evidence on long-term impacts,” Dr. Hamad said. “We also need to better understand why take-up is low in these programs despite these potential health benefits. Then we can make sure that economically disadvantaged families receive the benefits for which they are eligible through interventions to improve participation rates.”

Ideally, WIC programs would receive additional funding for independent parties to evaluate health outcomes, according to Ashwini Lakshmanan, MD, MS, MPH, associate professor in the department of health systems science at Kaiser Permanente Bernard J. Tyson School of Medicine, Pasadena, Calif.

Dr. Lakshmanan, who previously evaluated the benefits of WIC participation for high-risk infants, noted that randomized clinical trials would be unethical in this setting, yet data collection can still be “very conscientious and intentional,” with a focus on policy-shaping outcome metrics like immunizations and pediatric health care visits.

“The main point is thinking about it at the forefront, and not retrospectively,” Dr. Lakshmanan said.

Dr. Ogunwole, who led the present review, suggested in a written comment that future studies “could employ robust statistical methods (propensity matching, fixed effects models, etc.) to help reduce bias.”

She also recommended evaluating innovations in WIC programs; for example, adding a health coach, or conducting a cooking skills intervention.

Studies are also needed to better understand the various obstacles to WIC success, such as misconceptions about the program, discrimination, and barriers to enrollment, Dr. Ogunwole added.

“WIC enrollment has been decreasing for a number of years, and this was occurring prepandemic as well,” she said. “More work needs to be done to understand this issue.”

The study was supported by the Agency for Healthcare Research and Quality, U.S. Department of Health & Human Services. The investigators and interviewees disclosed no conflicts of interest.

The Special Supplemental Nutrition Program for Women, Infants, and Children (WIC) leads to improved birth outcomes and lower infant mortality, and possibly better preventive childcare, suggests new research.

How exactly the national program achieves these outcomes, however, remains unclear, and study quality shows room for improvement, reported co–lead authors Maya Venkataramani, MD, MPH and S. Michelle Ogunwole, MD, PhD of Johns Hopkins University, Baltimore, and colleagues.

The WIC program, which has been serving low-income women and young children since 1974, “provides supplemental foods, nutrition education and breastfeeding support, screening and referrals to medical and social services, and support for high-risk pregnancies,” the investigators wrote in Annals of Internal Medicine. The U.S. Food and Nutrition Service administers the program.

The authors conducted a systematic review of 20 observational studies aimed at determining the impacts of WIC participation on maternal, neonatal-birth, and infant-child health outcomes.

All studies included in the review began in or after 2009, when the WIC food package was revised to better address diet-related chronic diseases. For inclusion in the review, studies were required to have a WIC-eligible comparison group. Included research also evaluated the relationship between WIC participation and the prespecified health outcomes.

“We found only 20 studies that fulfilled our rigorous study inclusion criteria for these specific outcomes,” the investigators wrote. “In some areas, the evidence was absent, and in others, the strength of evidence (SOE) was moderate or low.”

Six outcome categories were assessed: maternal morbidity, maternal pregnancy outcomes, maternal health behaviors, maternal health care utilization, child morbidity, and childhood health care utilization. Of these, maternal health care utilization had the most robust body of evidence, while data from studies evaluating maternal morbidity and child morbidity were deemed insufficient.

Based on eligible studies, WIC participation was associated with reduced risks of insufficient weight gain in pregnancy, preterm birth, low infant birthweight, and infant mortality. Participation was also associated with an increased likelihood of infant and child health care utilization, such as routine immunizations.
 

Growing evidence should drive enrollment

“Growing evidence points to WIC as a way to reduce risk of preterm birth and other adverse outcomes,” said Laura Jelliffe-Pawlowski, PhD, MS, professor at the University of California, San Francisco and a director for the UCSF California Preterm Birth Initiative.

Dr. Jelliffe-Pawlowski, who conducted a California-based study included in the paper, said the review is noteworthy because it shows that WIC-associated benefits are observed across locations.

“It’s not just in California; it’s across the country,” she said. “It’s a national call to action – where there’s partnership between national-, state- and community-level WIC programs – to make WIC as accessible as possible, and reflect community wants and needs, so that more people enroll, and more people stay enrolled.”

Dr. Jelliffe-Pawlowski’s coauthor on the California study, Rita Hamad, MD, PhD, associate professor of family & community medicine at UCSF and associate director of the UCSF Center for Health Equity, encouraged health care providers to drive WIC enrollment, noting that, presently, only one in four eligible 4-year-olds participates.

“Physicians and other health care stakeholders can help patients benefit from this program by encouraging them to sign up, and even by providing sign-up support in the form of a social worker or other staff member,” Dr. Hamad said. “There is also literature on the types of interventions that improve take-up of safety net programs that providers can look to.”
 

Goals of future research

Optimizing WIC operations, however, is only half the battle, considering the evidence gaps revealed by the review.

“We still need stronger studies that use more rigorous study designs ... to provide more convincing evidence to policymakers, as well as more evidence on long-term impacts,” Dr. Hamad said. “We also need to better understand why take-up is low in these programs despite these potential health benefits. Then we can make sure that economically disadvantaged families receive the benefits for which they are eligible through interventions to improve participation rates.”

Ideally, WIC programs would receive additional funding for independent parties to evaluate health outcomes, according to Ashwini Lakshmanan, MD, MS, MPH, associate professor in the department of health systems science at Kaiser Permanente Bernard J. Tyson School of Medicine, Pasadena, Calif.

Dr. Lakshmanan, who previously evaluated the benefits of WIC participation for high-risk infants, noted that randomized clinical trials would be unethical in this setting, yet data collection can still be “very conscientious and intentional,” with a focus on policy-shaping outcome metrics like immunizations and pediatric health care visits.

“The main point is thinking about it at the forefront, and not retrospectively,” Dr. Lakshmanan said.

Dr. Ogunwole, who led the present review, suggested in a written comment that future studies “could employ robust statistical methods (propensity matching, fixed effects models, etc.) to help reduce bias.”

She also recommended evaluating innovations in WIC programs; for example, adding a health coach, or conducting a cooking skills intervention.

Studies are also needed to better understand the various obstacles to WIC success, such as misconceptions about the program, discrimination, and barriers to enrollment, Dr. Ogunwole added.

“WIC enrollment has been decreasing for a number of years, and this was occurring prepandemic as well,” she said. “More work needs to be done to understand this issue.”

The study was supported by the Agency for Healthcare Research and Quality, U.S. Department of Health & Human Services. The investigators and interviewees disclosed no conflicts of interest.