What are appropriate screening tests for adolescents?

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What are appropriate screening tests for adolescents?
EVIDENCE-BASED ANSWER

Screen all women of childbearing age, including adolescents, for rubella susceptibility (strength of recommendation [SOR]: B). Screen all sexually active adolescent females for chlamydia (SOR: A), gonorrhea (SOR: B), and cervical cancer (SOR: A). High-risk, sexually active adolescents should be screened for HIV and syphilis (SOR: A). Screen all adolescents at risk for tuberculosis (TB) infection (SOR: A).

CLINICAL COMMENTARY

Adolescent visits also provide opportunity to educate patients on nonmedical aspects of care
Andrea Darby-Stewart, MD
Department of Family Medicine, Mayo Clinic Arizona

Adolescent visits provide an opportunity to apply the biopsychosocial skills that enhance the care we provide as family physicians. In addition to screening for the diseases noted above, I take the opportunity to screen and educate these patients on “non-medical” aspects of care by using the HEADSSS assessment method. These open-ended questions regarding Home environment, Educational status and goals, extracurricular Activities, Drug use, Sexual activity and relationships, Suicide/depression risk, and Safety review allow me to get to know my patient better, and hopefully set the stage for open discussion of these topics in the future.

 

Evidence summary

The TABLE summarizes the recommendations of the US Preventive Services Task Force (USPSTF) with regard to adolescent screening.1 We identified no additional evidence-based recommendations for screening tests for adolescents.

As shown in the TABLE, rubella susceptibility screening is recommended for all adolescent females (SOR: B). Sexually active adolescent females should routinely be screened for chlamydia, gonorrhea, and cervical cancer. Adolescents at risk of contracting TB, HIV, or syphilis should be screened for those diseases.

Evidence is insufficient to recommend for or against performing the following tests for adolescents: hearing loss screening, anemia screening, clinical or self breast examination, blood pressure screening, screening for overweight, screening for alcohol misuse, screening for depression, and suicide risk screening. For males, evidence is insufficient to recommend for or against: rubella screening, routine rubella vaccination, and chlamydia or gonorrhea screening for sexually active males.

Do not perform the following tests on adolescents because evidence is good that the harms outweigh the benefits: testicular cancer screening using clinical or self-testicular examination, hepatitis B screening, screening for herpes, thyroid cancer screening, screening for scoliosis, and bacteriuria screening in asymptomatic non-pregnant adolescents. Screening for lipid disorders is recommended only for those over age 20 years who have significant risks for coronary artery disease.

TABLE
USPSTF evidence-supported screening tests for adolescents

TEST (SOR)POPULATIONUSPSTF COMMENTSAAFPAAP AND AMA
Routine screening    
Rubella susceptibility (B) (with history of vaccination or serology)All females of childbearing ageHistory of the disease is not adequate. For nonpregnant adolescents, an acceptable alternative is to offer vaccination against rubella without screeningStrongly recommendsRecommends
Chlamydia (A)Sexually active females*Insufficient evidence for or against screening malesStrongly recommendsRecommends
Gonorrhea (A)Sexually active females*Insufficient evidence for or against screening malesRecommendsRecommends
Cervical cancer (A) (with pap smear)Sexually active femalesIndirect evidence suggests screening should begin within 3 years of onset of sexual activityRecommendsRecommends, and add HPV screening
High-risk screening    
HIV(A)High risk Strongly recommendsRecommends
Syphilis (A)High risk Strongly recommendsRecommends
Tuberculosis (A) (with PPD test)High-risk** Strongly recommendsRecommends
Sources: USPSTF Guide to Clinical Preventive Services 1; AAFP Summary of Recommendations for Clinical Preventive Services2; AAP Recommendations for Preventive Pediatric Health Care3; AMA Guidelines for Adolescent Preventive Services (GAPS).4
SOR, strength of recommendation; USPSTF, US Preventive Services task Force; AAFP, American Academy of Family Physicians; AAP, American Academy of pediatricians; AM, American Medical Association
* The interval for rescreening should take into account the frequency of changes in sexual partners.
† Alist of HIV risks is available at: www.ahrq.gov/clinic/uspstf05/hiv/hivrs.htm#clinical.
‡ Alist of syphilis risks is available at: www.ahrq.gov/clinic/3rduspstf/syphilis/syphilrs.htm#clinical.
** Alist of tuberculosis risks is available at: www.ahrq.gov/clinic/2ndcps/tubercls.pdf (pp 282-283).

Recommendations from others

Several professional organizations provide recommendations for adolescent preventive services and screening tests. The American Academy of Family Physicians concurs with the USPSTF recommendations.2 The American Academy of Pediatrics (AAP)3 and the American Medical Association4 make several recommendations beyond those put forth by the USPSTF, including screening all adolescents for hypertension, risk for hyperlipidemia and adult coronary artery disease, eating disorders/obesity, and tobacco use. They also recommend extending chlamydia and gonorrhea screening to sexually active males.

The AAP also recommends conducting vision and hearing screening, developmental and behavioral assessment, hematocrit or hemoglobin for menstruating adolescents, urine leukocyte esterase for sexually active adolescents, and pelvic exams for sexually active females.

References

1. United States Preventive Services Task Force (USPSTF). Guide to Clinical Preventive Services. Available at www.ahrq.gov/clinic/cps3dix.htm. Accessed on September 6, 2006.

2. The American Academy of Family Practice (AAFP). Summary of Recommendations for Clinical Preventive Services, August 2005. Leawood, Kansas: AAFP; 2005. Available at www.aafp.org/PreBuilt/RCPS_August2005.pdf. Accessed on September 6, 2006.

3. American Academy of Pediatrics, Committee on Practice and Ambulatory Medicine. Recommendations for Preventive Pediatric Health Care, March 2000. Pediatrics 2000;105:645-646.Available at: aappolicy.aappublications.org/cgi/content/full/pediatrics;105/3/645. Accessed on September 6, 2006.

4. American Medical Association, Department of Adolescent Health. Guidelines for Adolescent Preventive Services (GAPS). Recommendations Monograph 1997. Chicago, Ill. Available at: www.ama-assn.org/ama/upload/mm/39/gapsmono.pdf. Accessed on September 6, 2006.

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EVIDENCE-BASED ANSWER

Screen all women of childbearing age, including adolescents, for rubella susceptibility (strength of recommendation [SOR]: B). Screen all sexually active adolescent females for chlamydia (SOR: A), gonorrhea (SOR: B), and cervical cancer (SOR: A). High-risk, sexually active adolescents should be screened for HIV and syphilis (SOR: A). Screen all adolescents at risk for tuberculosis (TB) infection (SOR: A).

CLINICAL COMMENTARY

Adolescent visits also provide opportunity to educate patients on nonmedical aspects of care
Andrea Darby-Stewart, MD
Department of Family Medicine, Mayo Clinic Arizona

Adolescent visits provide an opportunity to apply the biopsychosocial skills that enhance the care we provide as family physicians. In addition to screening for the diseases noted above, I take the opportunity to screen and educate these patients on “non-medical” aspects of care by using the HEADSSS assessment method. These open-ended questions regarding Home environment, Educational status and goals, extracurricular Activities, Drug use, Sexual activity and relationships, Suicide/depression risk, and Safety review allow me to get to know my patient better, and hopefully set the stage for open discussion of these topics in the future.

 

Evidence summary

The TABLE summarizes the recommendations of the US Preventive Services Task Force (USPSTF) with regard to adolescent screening.1 We identified no additional evidence-based recommendations for screening tests for adolescents.

As shown in the TABLE, rubella susceptibility screening is recommended for all adolescent females (SOR: B). Sexually active adolescent females should routinely be screened for chlamydia, gonorrhea, and cervical cancer. Adolescents at risk of contracting TB, HIV, or syphilis should be screened for those diseases.

Evidence is insufficient to recommend for or against performing the following tests for adolescents: hearing loss screening, anemia screening, clinical or self breast examination, blood pressure screening, screening for overweight, screening for alcohol misuse, screening for depression, and suicide risk screening. For males, evidence is insufficient to recommend for or against: rubella screening, routine rubella vaccination, and chlamydia or gonorrhea screening for sexually active males.

Do not perform the following tests on adolescents because evidence is good that the harms outweigh the benefits: testicular cancer screening using clinical or self-testicular examination, hepatitis B screening, screening for herpes, thyroid cancer screening, screening for scoliosis, and bacteriuria screening in asymptomatic non-pregnant adolescents. Screening for lipid disorders is recommended only for those over age 20 years who have significant risks for coronary artery disease.

TABLE
USPSTF evidence-supported screening tests for adolescents

TEST (SOR)POPULATIONUSPSTF COMMENTSAAFPAAP AND AMA
Routine screening    
Rubella susceptibility (B) (with history of vaccination or serology)All females of childbearing ageHistory of the disease is not adequate. For nonpregnant adolescents, an acceptable alternative is to offer vaccination against rubella without screeningStrongly recommendsRecommends
Chlamydia (A)Sexually active females*Insufficient evidence for or against screening malesStrongly recommendsRecommends
Gonorrhea (A)Sexually active females*Insufficient evidence for or against screening malesRecommendsRecommends
Cervical cancer (A) (with pap smear)Sexually active femalesIndirect evidence suggests screening should begin within 3 years of onset of sexual activityRecommendsRecommends, and add HPV screening
High-risk screening    
HIV(A)High risk Strongly recommendsRecommends
Syphilis (A)High risk Strongly recommendsRecommends
Tuberculosis (A) (with PPD test)High-risk** Strongly recommendsRecommends
Sources: USPSTF Guide to Clinical Preventive Services 1; AAFP Summary of Recommendations for Clinical Preventive Services2; AAP Recommendations for Preventive Pediatric Health Care3; AMA Guidelines for Adolescent Preventive Services (GAPS).4
SOR, strength of recommendation; USPSTF, US Preventive Services task Force; AAFP, American Academy of Family Physicians; AAP, American Academy of pediatricians; AM, American Medical Association
* The interval for rescreening should take into account the frequency of changes in sexual partners.
† Alist of HIV risks is available at: www.ahrq.gov/clinic/uspstf05/hiv/hivrs.htm#clinical.
‡ Alist of syphilis risks is available at: www.ahrq.gov/clinic/3rduspstf/syphilis/syphilrs.htm#clinical.
** Alist of tuberculosis risks is available at: www.ahrq.gov/clinic/2ndcps/tubercls.pdf (pp 282-283).

Recommendations from others

Several professional organizations provide recommendations for adolescent preventive services and screening tests. The American Academy of Family Physicians concurs with the USPSTF recommendations.2 The American Academy of Pediatrics (AAP)3 and the American Medical Association4 make several recommendations beyond those put forth by the USPSTF, including screening all adolescents for hypertension, risk for hyperlipidemia and adult coronary artery disease, eating disorders/obesity, and tobacco use. They also recommend extending chlamydia and gonorrhea screening to sexually active males.

The AAP also recommends conducting vision and hearing screening, developmental and behavioral assessment, hematocrit or hemoglobin for menstruating adolescents, urine leukocyte esterase for sexually active adolescents, and pelvic exams for sexually active females.

EVIDENCE-BASED ANSWER

Screen all women of childbearing age, including adolescents, for rubella susceptibility (strength of recommendation [SOR]: B). Screen all sexually active adolescent females for chlamydia (SOR: A), gonorrhea (SOR: B), and cervical cancer (SOR: A). High-risk, sexually active adolescents should be screened for HIV and syphilis (SOR: A). Screen all adolescents at risk for tuberculosis (TB) infection (SOR: A).

CLINICAL COMMENTARY

Adolescent visits also provide opportunity to educate patients on nonmedical aspects of care
Andrea Darby-Stewart, MD
Department of Family Medicine, Mayo Clinic Arizona

Adolescent visits provide an opportunity to apply the biopsychosocial skills that enhance the care we provide as family physicians. In addition to screening for the diseases noted above, I take the opportunity to screen and educate these patients on “non-medical” aspects of care by using the HEADSSS assessment method. These open-ended questions regarding Home environment, Educational status and goals, extracurricular Activities, Drug use, Sexual activity and relationships, Suicide/depression risk, and Safety review allow me to get to know my patient better, and hopefully set the stage for open discussion of these topics in the future.

 

Evidence summary

The TABLE summarizes the recommendations of the US Preventive Services Task Force (USPSTF) with regard to adolescent screening.1 We identified no additional evidence-based recommendations for screening tests for adolescents.

As shown in the TABLE, rubella susceptibility screening is recommended for all adolescent females (SOR: B). Sexually active adolescent females should routinely be screened for chlamydia, gonorrhea, and cervical cancer. Adolescents at risk of contracting TB, HIV, or syphilis should be screened for those diseases.

Evidence is insufficient to recommend for or against performing the following tests for adolescents: hearing loss screening, anemia screening, clinical or self breast examination, blood pressure screening, screening for overweight, screening for alcohol misuse, screening for depression, and suicide risk screening. For males, evidence is insufficient to recommend for or against: rubella screening, routine rubella vaccination, and chlamydia or gonorrhea screening for sexually active males.

Do not perform the following tests on adolescents because evidence is good that the harms outweigh the benefits: testicular cancer screening using clinical or self-testicular examination, hepatitis B screening, screening for herpes, thyroid cancer screening, screening for scoliosis, and bacteriuria screening in asymptomatic non-pregnant adolescents. Screening for lipid disorders is recommended only for those over age 20 years who have significant risks for coronary artery disease.

TABLE
USPSTF evidence-supported screening tests for adolescents

TEST (SOR)POPULATIONUSPSTF COMMENTSAAFPAAP AND AMA
Routine screening    
Rubella susceptibility (B) (with history of vaccination or serology)All females of childbearing ageHistory of the disease is not adequate. For nonpregnant adolescents, an acceptable alternative is to offer vaccination against rubella without screeningStrongly recommendsRecommends
Chlamydia (A)Sexually active females*Insufficient evidence for or against screening malesStrongly recommendsRecommends
Gonorrhea (A)Sexually active females*Insufficient evidence for or against screening malesRecommendsRecommends
Cervical cancer (A) (with pap smear)Sexually active femalesIndirect evidence suggests screening should begin within 3 years of onset of sexual activityRecommendsRecommends, and add HPV screening
High-risk screening    
HIV(A)High risk Strongly recommendsRecommends
Syphilis (A)High risk Strongly recommendsRecommends
Tuberculosis (A) (with PPD test)High-risk** Strongly recommendsRecommends
Sources: USPSTF Guide to Clinical Preventive Services 1; AAFP Summary of Recommendations for Clinical Preventive Services2; AAP Recommendations for Preventive Pediatric Health Care3; AMA Guidelines for Adolescent Preventive Services (GAPS).4
SOR, strength of recommendation; USPSTF, US Preventive Services task Force; AAFP, American Academy of Family Physicians; AAP, American Academy of pediatricians; AM, American Medical Association
* The interval for rescreening should take into account the frequency of changes in sexual partners.
† Alist of HIV risks is available at: www.ahrq.gov/clinic/uspstf05/hiv/hivrs.htm#clinical.
‡ Alist of syphilis risks is available at: www.ahrq.gov/clinic/3rduspstf/syphilis/syphilrs.htm#clinical.
** Alist of tuberculosis risks is available at: www.ahrq.gov/clinic/2ndcps/tubercls.pdf (pp 282-283).

Recommendations from others

Several professional organizations provide recommendations for adolescent preventive services and screening tests. The American Academy of Family Physicians concurs with the USPSTF recommendations.2 The American Academy of Pediatrics (AAP)3 and the American Medical Association4 make several recommendations beyond those put forth by the USPSTF, including screening all adolescents for hypertension, risk for hyperlipidemia and adult coronary artery disease, eating disorders/obesity, and tobacco use. They also recommend extending chlamydia and gonorrhea screening to sexually active males.

The AAP also recommends conducting vision and hearing screening, developmental and behavioral assessment, hematocrit or hemoglobin for menstruating adolescents, urine leukocyte esterase for sexually active adolescents, and pelvic exams for sexually active females.

References

1. United States Preventive Services Task Force (USPSTF). Guide to Clinical Preventive Services. Available at www.ahrq.gov/clinic/cps3dix.htm. Accessed on September 6, 2006.

2. The American Academy of Family Practice (AAFP). Summary of Recommendations for Clinical Preventive Services, August 2005. Leawood, Kansas: AAFP; 2005. Available at www.aafp.org/PreBuilt/RCPS_August2005.pdf. Accessed on September 6, 2006.

3. American Academy of Pediatrics, Committee on Practice and Ambulatory Medicine. Recommendations for Preventive Pediatric Health Care, March 2000. Pediatrics 2000;105:645-646.Available at: aappolicy.aappublications.org/cgi/content/full/pediatrics;105/3/645. Accessed on September 6, 2006.

4. American Medical Association, Department of Adolescent Health. Guidelines for Adolescent Preventive Services (GAPS). Recommendations Monograph 1997. Chicago, Ill. Available at: www.ama-assn.org/ama/upload/mm/39/gapsmono.pdf. Accessed on September 6, 2006.

References

1. United States Preventive Services Task Force (USPSTF). Guide to Clinical Preventive Services. Available at www.ahrq.gov/clinic/cps3dix.htm. Accessed on September 6, 2006.

2. The American Academy of Family Practice (AAFP). Summary of Recommendations for Clinical Preventive Services, August 2005. Leawood, Kansas: AAFP; 2005. Available at www.aafp.org/PreBuilt/RCPS_August2005.pdf. Accessed on September 6, 2006.

3. American Academy of Pediatrics, Committee on Practice and Ambulatory Medicine. Recommendations for Preventive Pediatric Health Care, March 2000. Pediatrics 2000;105:645-646.Available at: aappolicy.aappublications.org/cgi/content/full/pediatrics;105/3/645. Accessed on September 6, 2006.

4. American Medical Association, Department of Adolescent Health. Guidelines for Adolescent Preventive Services (GAPS). Recommendations Monograph 1997. Chicago, Ill. Available at: www.ama-assn.org/ama/upload/mm/39/gapsmono.pdf. Accessed on September 6, 2006.

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What are appropriate screening tests for infants and children?

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EVIDENCE-BASED ANSWER

There is adequate evidence for screening neonates for hemoglobinopathies, congenital hypothyroidism, phenylketonuria (strength of recommendation [SOR]: A), and cystic fibrosis (SOR: B). Vision screening should be done for those younger than age 5 years (SOR: B). High-risk children should be tested for tuberculosis (TB) (SOR: B) and lead toxicity (SOR: B). Few data exist to guide frequency and timing of these screening tests, so the following timing recommendations are based on consensus opinion (SOR: C): test for visual acuity yearly starting at age 3 years; test for TB and lead once between the ages of 9 and 12 months, and repeat for high risk or exposure.

CLINICAL COMMENTARY

Obtain family history; order additional screening tests if history suggests them
Vince WinklerPrins, MD, FAAFP
Michigan State University, East Lansing

Why do states differ so much in the neonatal screening tests that they routinely perform? Some states screen for only a few genetic diseases, others for more than 40. Most states do neonatal hearing screening despite limited evidence of utility, while only one quarter of all states have neonatal cystic fibrosis screening programs, a condition for which there is probably better evidence for screening. While we might like to think that good science alone would dictate screening policy, the economic circumstances of each state, variable interpretation/quality of the research reviewed, and legislative priorities (among many reasons) probably play at least as much a roll. For any test, its accuracy is only as good as the pretest probability of the disease for which it is being used. Our yield for cystic fibrosis screening will be higher in families with a history of cystic fibrosis. This is the key point—you still need to obtain a family history and order additional screening tests if the history suggests them.

 

Evidence summary

There are many opinions and recommendations about what constitutes quality health surveillance for children. However, many screening tests for children lack evidence of effectiveness and information on harms.1 The scope of this question required use of evidence published in high-quality systematic reviews. The US Preventive Services Task Force (USPSTF) provides the most rigorous evidence on which to base recommendations.2 Medline was searched for any additional individual studies of interest. The USPSTF has conducted reviews for selected screening tests for children; the TABLE summarizes those with sufficient evidence to recommend them. We identified 1 additional evidence-based recommendation from the Centers for Disease Control and Prevention. This report, based on a systematic review, recommends cystic fibrosis screening in neonates based on moderate benefits and low risks of harm.3

The TABLE summarizes the evidence supporting universal childhood screening for hemoglobinopathies, congenital hypothyroidism, phenylketonuria, and visual defects; and high-risk childhood screening for tuberculosis and lead toxicity. The TABLE also lists the recommendations from the American Academy of Pediatrics (AAP) on frequency and timing of screening as guided by consensus opinion.

The USPSTF recommendations supporting screening for hemoglobinopathies, congenital hypothyroidism, and phenylketonuria are considered standard of care. The USPSTF believes that updating these 1996 recommendations would have little impact on clinical practice.

The USPSTF recommendations supporting vision screening found no direct evidence supporting screening for visual acuity. One fair-quality controlled study (N=3490) showed a decreased prevalence of amblyopia in the screened group and evidence that treatment of amblyotic risk factors prevents amblyopia. A Cochrane review of this topic showed insufficient evidence for visual screening of older (school-aged) children; for amblyopia, no data sufficient for analysis was found.4,5

The USPSTF recommendation to screen asymptomatic high-risk children for TB is based on the effectiveness of early intervention (14 controlled trials) and the accuracy of the Mantoux test.

TABLE
US Preventive Services Task Force evidence-supported testing for children

TEST(SOR)POPULATIONUSPSTF COMMENTSAAFPAAP
UNIVERSALSCREENING
Neonatal hemoglobinopathy (A)Newborns Strongly recommendsRecommends once at 2 to 4 days of life, but before age 1 month
Neonatal phenylketonuria (A)Newborns—repeat at 2 weeks if <24 hrs old at discharge Strongly recommends 
Congenital hypothyroidism (A)Newborns Strongly recommends 
Vision screening for strabismus, amblyopia, and refractive error (B)Before age 5Type of screening tests vary with age; evidence inadequate to recommend specific testRecommendsStart objective testing yearly at age 3
HIGH-RISK SCREENING
PPD test for tuberculosis (A)Children at high-risk for TBRisks for TB: HIV,close contacts of persons with TB, immigrants from countries with high TB prevalence, low income populations, and residents of long-term care facilitiesStrongly recommends screening high-risk ChildrenScreen high-risk children at 12 months and or upon recognition of high-risk factors
Lead toxicity (B)*Infants at risk at 12 months of age at risk for lead exposureRisks for leadScreen infants at high riskScreen high-risk infants at 9 to 12 months. Repeat at age 24 months for those at high-risk
* This document is currently being updated; the recommendation may or may not change.
† Risk are living in a house older than 1950 with peeling paint or remodeling, living near heavy traffic or lead industry, living with someone who has elevated lead levels or whose job/hobby involves lead exposure, using lead-based pottery, or taking remedies that contain lead.
AAFP: American Academy of Family Practice recommendations from: www.aafp.org/PreBuilt/RCPS_August2005.pdf.
AAP: American Academy of Pediatrics recommendations from: aappolicy.aappublications.org/cgi/content/full/pediatrics;105/3/645.
 

 

The USPSTF document on screening for lead levels is currently being revised and the recommendation may change. Although no controlled studies directly show that screening high-risk children for lead exposure improves clinical outcomes, several lesser-quality studies create a logical path to this conclusion.

The USPSTF finds there is insufficient evidence to recommend for or against performing the following screening tests in children: blood pressure screening; screening for overweight in children and adolescents; and iron deficiency screening in asymptomatic infants. Both Cochrane Systematic Reviews and USPSTF found insufficient evidence to support universal hearing screening, including neonatal hearing screening.6 The USPSTF makes no recommendation regarding screening high-risk children for hyperlipidemia.

 

The USPSTF recommends that the following tests should not be performed in children because there is good evidence that the harms outweigh the benefits: thyroid cancer screening in children and bacteriuria screening in asymptomatic nonpregnant children.

Recommendations from others

There are numerous guidelines recommending various sets of preventive services for children, but there are few evidence-based recommendations. The AAP recommendations can be found in Guidelines for Health Supervision III.7 The AAP also publishes policy statements and guidelines in the journal Pediatrics. The American Academy of Family Practice’s (AAFP) recommendations on health supervision can be found at: www.aafp.org/PreBuilt/RCPS_August2005.pdf.

A summary of the AAFP and the AAP recommendations on each of the USPSTF supported tests is in the TABLE. While AAFP and USPSTF recommendations concur, AAP recommendations differ in recommending hearing screening for all newborns, iron deficiency screening at 9 months of age, screening for lipid disorders in children at risk starting at 24 months, and screening urinalysis at age 5 years.

References

1. Moyer VA, Butler M. Gaps in the evidence for well-child care: A challenge to our profession. Pediatrics 2004;114:1511-1521.

2. US Preventive Services Task Force. Guide to Clinical Preventive Services [website]. Available at: www.ahrq.gov/clinic/cps3dix.htm. Accessed on June 28, 2006.

3. Grosse SD, Boyle CA, Botkin JR, et al. Newborn screening for cystic fibrosis: evaluation of benefits and risks and recommendations for state newborn screening programs. MMWR Recomm Rep 2004;53(RR-13):1-36.

4. Powell C, Porooshani H, Bohorquez MC, Richardson S. Screening for amblyopia in childhood. Cochrane Database Syst Rev 2005;(3)::CD005020.-

5. Powell C, Wedner S, Richardson S. Screening for correctable visual acuity deficits in school-age children and adolescents. Cochrane Database Syst Rev 2005;(1):CD005023.-

6. Puig T, Municio A, Meda C. Universal neonatal hearing screening versus selective screening as part of the management of childhood deafness. Cochrane Database Syst Rev 2005;(2):CD003731.-

7. Guidelines for Health Supervision III. Elk Grove Village, Ill: American Academy of Pediatrics; 1997. (Updated 2002).

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EVIDENCE-BASED ANSWER

There is adequate evidence for screening neonates for hemoglobinopathies, congenital hypothyroidism, phenylketonuria (strength of recommendation [SOR]: A), and cystic fibrosis (SOR: B). Vision screening should be done for those younger than age 5 years (SOR: B). High-risk children should be tested for tuberculosis (TB) (SOR: B) and lead toxicity (SOR: B). Few data exist to guide frequency and timing of these screening tests, so the following timing recommendations are based on consensus opinion (SOR: C): test for visual acuity yearly starting at age 3 years; test for TB and lead once between the ages of 9 and 12 months, and repeat for high risk or exposure.

CLINICAL COMMENTARY

Obtain family history; order additional screening tests if history suggests them
Vince WinklerPrins, MD, FAAFP
Michigan State University, East Lansing

Why do states differ so much in the neonatal screening tests that they routinely perform? Some states screen for only a few genetic diseases, others for more than 40. Most states do neonatal hearing screening despite limited evidence of utility, while only one quarter of all states have neonatal cystic fibrosis screening programs, a condition for which there is probably better evidence for screening. While we might like to think that good science alone would dictate screening policy, the economic circumstances of each state, variable interpretation/quality of the research reviewed, and legislative priorities (among many reasons) probably play at least as much a roll. For any test, its accuracy is only as good as the pretest probability of the disease for which it is being used. Our yield for cystic fibrosis screening will be higher in families with a history of cystic fibrosis. This is the key point—you still need to obtain a family history and order additional screening tests if the history suggests them.

 

Evidence summary

There are many opinions and recommendations about what constitutes quality health surveillance for children. However, many screening tests for children lack evidence of effectiveness and information on harms.1 The scope of this question required use of evidence published in high-quality systematic reviews. The US Preventive Services Task Force (USPSTF) provides the most rigorous evidence on which to base recommendations.2 Medline was searched for any additional individual studies of interest. The USPSTF has conducted reviews for selected screening tests for children; the TABLE summarizes those with sufficient evidence to recommend them. We identified 1 additional evidence-based recommendation from the Centers for Disease Control and Prevention. This report, based on a systematic review, recommends cystic fibrosis screening in neonates based on moderate benefits and low risks of harm.3

The TABLE summarizes the evidence supporting universal childhood screening for hemoglobinopathies, congenital hypothyroidism, phenylketonuria, and visual defects; and high-risk childhood screening for tuberculosis and lead toxicity. The TABLE also lists the recommendations from the American Academy of Pediatrics (AAP) on frequency and timing of screening as guided by consensus opinion.

The USPSTF recommendations supporting screening for hemoglobinopathies, congenital hypothyroidism, and phenylketonuria are considered standard of care. The USPSTF believes that updating these 1996 recommendations would have little impact on clinical practice.

The USPSTF recommendations supporting vision screening found no direct evidence supporting screening for visual acuity. One fair-quality controlled study (N=3490) showed a decreased prevalence of amblyopia in the screened group and evidence that treatment of amblyotic risk factors prevents amblyopia. A Cochrane review of this topic showed insufficient evidence for visual screening of older (school-aged) children; for amblyopia, no data sufficient for analysis was found.4,5

The USPSTF recommendation to screen asymptomatic high-risk children for TB is based on the effectiveness of early intervention (14 controlled trials) and the accuracy of the Mantoux test.

TABLE
US Preventive Services Task Force evidence-supported testing for children

TEST(SOR)POPULATIONUSPSTF COMMENTSAAFPAAP
UNIVERSALSCREENING
Neonatal hemoglobinopathy (A)Newborns Strongly recommendsRecommends once at 2 to 4 days of life, but before age 1 month
Neonatal phenylketonuria (A)Newborns—repeat at 2 weeks if <24 hrs old at discharge Strongly recommends 
Congenital hypothyroidism (A)Newborns Strongly recommends 
Vision screening for strabismus, amblyopia, and refractive error (B)Before age 5Type of screening tests vary with age; evidence inadequate to recommend specific testRecommendsStart objective testing yearly at age 3
HIGH-RISK SCREENING
PPD test for tuberculosis (A)Children at high-risk for TBRisks for TB: HIV,close contacts of persons with TB, immigrants from countries with high TB prevalence, low income populations, and residents of long-term care facilitiesStrongly recommends screening high-risk ChildrenScreen high-risk children at 12 months and or upon recognition of high-risk factors
Lead toxicity (B)*Infants at risk at 12 months of age at risk for lead exposureRisks for leadScreen infants at high riskScreen high-risk infants at 9 to 12 months. Repeat at age 24 months for those at high-risk
* This document is currently being updated; the recommendation may or may not change.
† Risk are living in a house older than 1950 with peeling paint or remodeling, living near heavy traffic or lead industry, living with someone who has elevated lead levels or whose job/hobby involves lead exposure, using lead-based pottery, or taking remedies that contain lead.
AAFP: American Academy of Family Practice recommendations from: www.aafp.org/PreBuilt/RCPS_August2005.pdf.
AAP: American Academy of Pediatrics recommendations from: aappolicy.aappublications.org/cgi/content/full/pediatrics;105/3/645.
 

 

The USPSTF document on screening for lead levels is currently being revised and the recommendation may change. Although no controlled studies directly show that screening high-risk children for lead exposure improves clinical outcomes, several lesser-quality studies create a logical path to this conclusion.

The USPSTF finds there is insufficient evidence to recommend for or against performing the following screening tests in children: blood pressure screening; screening for overweight in children and adolescents; and iron deficiency screening in asymptomatic infants. Both Cochrane Systematic Reviews and USPSTF found insufficient evidence to support universal hearing screening, including neonatal hearing screening.6 The USPSTF makes no recommendation regarding screening high-risk children for hyperlipidemia.

 

The USPSTF recommends that the following tests should not be performed in children because there is good evidence that the harms outweigh the benefits: thyroid cancer screening in children and bacteriuria screening in asymptomatic nonpregnant children.

Recommendations from others

There are numerous guidelines recommending various sets of preventive services for children, but there are few evidence-based recommendations. The AAP recommendations can be found in Guidelines for Health Supervision III.7 The AAP also publishes policy statements and guidelines in the journal Pediatrics. The American Academy of Family Practice’s (AAFP) recommendations on health supervision can be found at: www.aafp.org/PreBuilt/RCPS_August2005.pdf.

A summary of the AAFP and the AAP recommendations on each of the USPSTF supported tests is in the TABLE. While AAFP and USPSTF recommendations concur, AAP recommendations differ in recommending hearing screening for all newborns, iron deficiency screening at 9 months of age, screening for lipid disorders in children at risk starting at 24 months, and screening urinalysis at age 5 years.

EVIDENCE-BASED ANSWER

There is adequate evidence for screening neonates for hemoglobinopathies, congenital hypothyroidism, phenylketonuria (strength of recommendation [SOR]: A), and cystic fibrosis (SOR: B). Vision screening should be done for those younger than age 5 years (SOR: B). High-risk children should be tested for tuberculosis (TB) (SOR: B) and lead toxicity (SOR: B). Few data exist to guide frequency and timing of these screening tests, so the following timing recommendations are based on consensus opinion (SOR: C): test for visual acuity yearly starting at age 3 years; test for TB and lead once between the ages of 9 and 12 months, and repeat for high risk or exposure.

CLINICAL COMMENTARY

Obtain family history; order additional screening tests if history suggests them
Vince WinklerPrins, MD, FAAFP
Michigan State University, East Lansing

Why do states differ so much in the neonatal screening tests that they routinely perform? Some states screen for only a few genetic diseases, others for more than 40. Most states do neonatal hearing screening despite limited evidence of utility, while only one quarter of all states have neonatal cystic fibrosis screening programs, a condition for which there is probably better evidence for screening. While we might like to think that good science alone would dictate screening policy, the economic circumstances of each state, variable interpretation/quality of the research reviewed, and legislative priorities (among many reasons) probably play at least as much a roll. For any test, its accuracy is only as good as the pretest probability of the disease for which it is being used. Our yield for cystic fibrosis screening will be higher in families with a history of cystic fibrosis. This is the key point—you still need to obtain a family history and order additional screening tests if the history suggests them.

 

Evidence summary

There are many opinions and recommendations about what constitutes quality health surveillance for children. However, many screening tests for children lack evidence of effectiveness and information on harms.1 The scope of this question required use of evidence published in high-quality systematic reviews. The US Preventive Services Task Force (USPSTF) provides the most rigorous evidence on which to base recommendations.2 Medline was searched for any additional individual studies of interest. The USPSTF has conducted reviews for selected screening tests for children; the TABLE summarizes those with sufficient evidence to recommend them. We identified 1 additional evidence-based recommendation from the Centers for Disease Control and Prevention. This report, based on a systematic review, recommends cystic fibrosis screening in neonates based on moderate benefits and low risks of harm.3

The TABLE summarizes the evidence supporting universal childhood screening for hemoglobinopathies, congenital hypothyroidism, phenylketonuria, and visual defects; and high-risk childhood screening for tuberculosis and lead toxicity. The TABLE also lists the recommendations from the American Academy of Pediatrics (AAP) on frequency and timing of screening as guided by consensus opinion.

The USPSTF recommendations supporting screening for hemoglobinopathies, congenital hypothyroidism, and phenylketonuria are considered standard of care. The USPSTF believes that updating these 1996 recommendations would have little impact on clinical practice.

The USPSTF recommendations supporting vision screening found no direct evidence supporting screening for visual acuity. One fair-quality controlled study (N=3490) showed a decreased prevalence of amblyopia in the screened group and evidence that treatment of amblyotic risk factors prevents amblyopia. A Cochrane review of this topic showed insufficient evidence for visual screening of older (school-aged) children; for amblyopia, no data sufficient for analysis was found.4,5

The USPSTF recommendation to screen asymptomatic high-risk children for TB is based on the effectiveness of early intervention (14 controlled trials) and the accuracy of the Mantoux test.

TABLE
US Preventive Services Task Force evidence-supported testing for children

TEST(SOR)POPULATIONUSPSTF COMMENTSAAFPAAP
UNIVERSALSCREENING
Neonatal hemoglobinopathy (A)Newborns Strongly recommendsRecommends once at 2 to 4 days of life, but before age 1 month
Neonatal phenylketonuria (A)Newborns—repeat at 2 weeks if <24 hrs old at discharge Strongly recommends 
Congenital hypothyroidism (A)Newborns Strongly recommends 
Vision screening for strabismus, amblyopia, and refractive error (B)Before age 5Type of screening tests vary with age; evidence inadequate to recommend specific testRecommendsStart objective testing yearly at age 3
HIGH-RISK SCREENING
PPD test for tuberculosis (A)Children at high-risk for TBRisks for TB: HIV,close contacts of persons with TB, immigrants from countries with high TB prevalence, low income populations, and residents of long-term care facilitiesStrongly recommends screening high-risk ChildrenScreen high-risk children at 12 months and or upon recognition of high-risk factors
Lead toxicity (B)*Infants at risk at 12 months of age at risk for lead exposureRisks for leadScreen infants at high riskScreen high-risk infants at 9 to 12 months. Repeat at age 24 months for those at high-risk
* This document is currently being updated; the recommendation may or may not change.
† Risk are living in a house older than 1950 with peeling paint or remodeling, living near heavy traffic or lead industry, living with someone who has elevated lead levels or whose job/hobby involves lead exposure, using lead-based pottery, or taking remedies that contain lead.
AAFP: American Academy of Family Practice recommendations from: www.aafp.org/PreBuilt/RCPS_August2005.pdf.
AAP: American Academy of Pediatrics recommendations from: aappolicy.aappublications.org/cgi/content/full/pediatrics;105/3/645.
 

 

The USPSTF document on screening for lead levels is currently being revised and the recommendation may change. Although no controlled studies directly show that screening high-risk children for lead exposure improves clinical outcomes, several lesser-quality studies create a logical path to this conclusion.

The USPSTF finds there is insufficient evidence to recommend for or against performing the following screening tests in children: blood pressure screening; screening for overweight in children and adolescents; and iron deficiency screening in asymptomatic infants. Both Cochrane Systematic Reviews and USPSTF found insufficient evidence to support universal hearing screening, including neonatal hearing screening.6 The USPSTF makes no recommendation regarding screening high-risk children for hyperlipidemia.

 

The USPSTF recommends that the following tests should not be performed in children because there is good evidence that the harms outweigh the benefits: thyroid cancer screening in children and bacteriuria screening in asymptomatic nonpregnant children.

Recommendations from others

There are numerous guidelines recommending various sets of preventive services for children, but there are few evidence-based recommendations. The AAP recommendations can be found in Guidelines for Health Supervision III.7 The AAP also publishes policy statements and guidelines in the journal Pediatrics. The American Academy of Family Practice’s (AAFP) recommendations on health supervision can be found at: www.aafp.org/PreBuilt/RCPS_August2005.pdf.

A summary of the AAFP and the AAP recommendations on each of the USPSTF supported tests is in the TABLE. While AAFP and USPSTF recommendations concur, AAP recommendations differ in recommending hearing screening for all newborns, iron deficiency screening at 9 months of age, screening for lipid disorders in children at risk starting at 24 months, and screening urinalysis at age 5 years.

References

1. Moyer VA, Butler M. Gaps in the evidence for well-child care: A challenge to our profession. Pediatrics 2004;114:1511-1521.

2. US Preventive Services Task Force. Guide to Clinical Preventive Services [website]. Available at: www.ahrq.gov/clinic/cps3dix.htm. Accessed on June 28, 2006.

3. Grosse SD, Boyle CA, Botkin JR, et al. Newborn screening for cystic fibrosis: evaluation of benefits and risks and recommendations for state newborn screening programs. MMWR Recomm Rep 2004;53(RR-13):1-36.

4. Powell C, Porooshani H, Bohorquez MC, Richardson S. Screening for amblyopia in childhood. Cochrane Database Syst Rev 2005;(3)::CD005020.-

5. Powell C, Wedner S, Richardson S. Screening for correctable visual acuity deficits in school-age children and adolescents. Cochrane Database Syst Rev 2005;(1):CD005023.-

6. Puig T, Municio A, Meda C. Universal neonatal hearing screening versus selective screening as part of the management of childhood deafness. Cochrane Database Syst Rev 2005;(2):CD003731.-

7. Guidelines for Health Supervision III. Elk Grove Village, Ill: American Academy of Pediatrics; 1997. (Updated 2002).

References

1. Moyer VA, Butler M. Gaps in the evidence for well-child care: A challenge to our profession. Pediatrics 2004;114:1511-1521.

2. US Preventive Services Task Force. Guide to Clinical Preventive Services [website]. Available at: www.ahrq.gov/clinic/cps3dix.htm. Accessed on June 28, 2006.

3. Grosse SD, Boyle CA, Botkin JR, et al. Newborn screening for cystic fibrosis: evaluation of benefits and risks and recommendations for state newborn screening programs. MMWR Recomm Rep 2004;53(RR-13):1-36.

4. Powell C, Porooshani H, Bohorquez MC, Richardson S. Screening for amblyopia in childhood. Cochrane Database Syst Rev 2005;(3)::CD005020.-

5. Powell C, Wedner S, Richardson S. Screening for correctable visual acuity deficits in school-age children and adolescents. Cochrane Database Syst Rev 2005;(1):CD005023.-

6. Puig T, Municio A, Meda C. Universal neonatal hearing screening versus selective screening as part of the management of childhood deafness. Cochrane Database Syst Rev 2005;(2):CD003731.-

7. Guidelines for Health Supervision III. Elk Grove Village, Ill: American Academy of Pediatrics; 1997. (Updated 2002).

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