Kathleen Franco, MD

From time to time, all physicians encounter patients whose behavior evokes negative emotions. In 1978, in an article titled “Taking care of the hateful patient,”¹ Groves detailed 4 types of patients—“dependent clingers, entitled demanders, manipulative help-rejecters, and self-destructive deniers”¹—that even the most seasoned physicians dread, and provided suggestions for managing interactions with them. The topic was revisited and updated in 2006 by Strous et al.²

See related editorial

Now, more than 10 years later, the challenge of how to interact with difficult patients is more relevant than ever. A cultural environment in which every patient can become an “expert” via the Internet has added new challenges. Patients who are especially time-consuming and emotionally draining exacerbate the many other pressures physicians face today (eg, increased paperwork, cost-consciousness, shortened appointment times, and the move to electronic medical records), contributing to physician burnout.

This article further updates the topic of managing challenging patients to reflect the current practice climate. We provide a more modern view of challenging patients and provide guidance on handling them. Although it may be tempting to diagnose some of these patients as having a personality disorder, it can often be more helpful to recognize patterns of behavior and have a clear plan for management. We also discuss general coping strategies for avoiding physician burnout.

INTERNET-SEEKING, QUESTIONING

A 45-year-old man carries in an overstuffed briefcase for his first primary care visit. He is a medical editor for a national journal and recently worked on a case study involving a rare cancer. As he edited, he recognized that he had the same symptoms and diagnosed himself with the same disease. He has brought with him a sheaf of articles he found on the Internet detailing clinical trials for experimental treatments. When the doctor begins to ask questions, he says the answers are irrelevant: he explains that he would have gone straight to an oncologist, but his insurance policy requires that he also have a primary care physician. He now expects the doctor to order magnetic resonance imaging, refer him to an oncologist, and support his request for the treatment he has identified as best.

The Internet: A blessing and a curse

Patients now have access to enormous amounts of information of variable accuracy. As in this case, patients may come to an appointment carrying early research studies that the physician has not yet reviewed. Others get their information from patient blogs that frequently offer opinions without evidence. Often, based on an advertisement or Internet reading, a patient requests a particular medication or test that may not be cost-effective or medically justified.

In a survey more than 10 years ago, more than 75% of physicians reported that they had patients who brought in information from online sources.³ Hu et al⁴ reported that 70% of patients who had online information planned to discuss it with their physicians. This practice is only growing, including in older patients.⁵

Physicians may feel confused and frustrated by patients who come armed with information. They may infer that patients do not trust them to diagnose correctly or treat optimally. In addition, discussing such information takes time, causing others on the schedule to wait, adding to the stress of coping with over-booked appointments.

Why so overprepared?

Patients who have or fear that they have cancer may be particularly worried that an important treatment will be overlooked.⁶ Since they feel that their life is hanging in the balance, their search for a definitive cure is understandable.

Internet-seeking, intensely questioning patients clearly want more information about the treatments they are receiving, alternative medical or procedural options, and complementary therapies.⁷ The response to their desire for more information affects their impression of physician empathy.⁸

Adapting to a more informed patient

Approaching these patients as an opportunity to educate may result in a more trusting patient and one more likely to be open to physician guidance and more likely to adhere to an advised treatment plan. Triangulation of the 3 actors—the physician, the patient, and the Web—can help patients to make more-informed choices and foster an attitude of partnership with the physician to lead them to optimal healthcare.

In a review of the impact of Internet use on healthcare and the physician-patient relationship, Wald et al⁹ urged physicians to:

• Adopt a positive attitude toward discussing Internet contributions
• Encourage patients to take an active role in maintaining health
• Acknowledge patient concerns and fears
• Avoid becoming defensive
• Recommend credible Internet sources.

Laing et al¹⁰ urged physicians to recognize rather than deny the effects of patients’ online searching for information and support, and not to ignore the potential impact on treatment. Consumers are gaining autonomy and self-efficacy, and Laing et al encouraged healthcare providers to develop ways to incorporate this new reality into the services they provide.¹⁰

How Web-based interaction can assist in patient decision-making for colorectal cancer screening is being explored.¹¹ Patients at home can use an online tool to learn about screening choices and would be more knowledgable and comfortable discussing the options with their care provider. The hope is to build in an automatic reminder for the clinician, who would better understand the patient’s preference before the office visit.

One approach to our patient is to say, “I can see how worried you are about having the same type of cancer you read about, and I want to help you. It is clear to me that you know a lot about healthcare, and I appreciate your engagement in your health. How about starting over? Let me ask a few questions so I can get a better perspective on your symptoms?” Many times, this strategy can help patients reframe their view and accept help.

A 60-year-old lawyer is admitted to the hospital for evaluation of abdominal pain. His physician recommends placing a nasogastric tube to provide nutrition while the evaluation is completed. His wife, a former nurse practitioner, insists that a nasogastric tube would be too dangerous and demands that he be allowed to eat instead. The couple declares the primary internal medicine physician incompetent, does not want any residents to be involved in his care, and antagonizes the nurses with constant demands. Soon, the entire team avoids the patient’s room.

Why so hostile?

People with demanding behavior often have a hostile and confrontational manner. They may use medical jargon and appear to believe that they know more than their healthcare team. Many demand to know why they have not been offered a particular test, diagnosis, or treatment, especially if they or a family member has a healthcare background. Such patients appear to feel that they are being treated incorrectly and leave us feeling vulnerable, wondering whether the patient might one day come back to haunt us with a lawsuit, especially if the medical outcome is unfavorable.

Understanding the motivation for the behavior can help a physician to empathize with the demanding patient.¹² Although it may seem that the demanding patient is trying to intimidate the physician, the goal is usually the same: to find the best possible treatment. Anger and hostility are often motivated by fear and a sense of losing control.

Ironically, this maladaptive coping style may alienate the very people who can help the patient. Hostile behavior evokes defensiveness and resentment in others. A power struggle may ensue: as the patient makes more unreasonable demands and threats, the physician reacts by asserting his or her views in an attempt to maintain control. Or the physician and the rest of the healthcare team may simply avoid the patient as much as possible.

Collaboration can defuse anger

The best strategy is often to steer the encounter away from a power struggle by legitimizing the patient’s feeling of entitlement to the best possible treatment.¹³ Take a collaborative stance with the patient, with the common goal of finding and implementing the most effective and lowest-risk diagnostic and treatment plan. Empathy and exploration of the patient’s concerns are always in order.

Physicians can try several strategies to improve interactions with demanding patients and caregivers:

Be consistent. All members of the healthcare team, including nurses and specialists, should convey consistent messages regarding diagnostic testing and treatment plans.

Don’t play the game. Demanding patients often complain about being mistreated by other healthcare providers. When confronted with such complaints, acknowledge the patient’s feelings while refraining from blaming or criticizing other members of the healthcare team.

Clarify expectations. Clarifying expectations from the initial patient encounter can prevent conflicts later. Support a patient who must accept a diagnosis of a terminal illness, and then when appropriate, discuss goals moving forward. Collaboration within the framework of reasonable expectations is key.

For our case, the physician could say, “We want to work with you together as a team. We will work hard to address your concerns, but our nurses must have a safe environment in which to help you.” Such a statement highlights shared goals and expression of concern without judgment. The next step is to clarify expectations by describing the hospital routine and how decisions are made.

Offer choices. Offering choices whenever possible can help a demanding patient feel more in control. Rather than dismiss a patient’s ideas, explore the alternatives. While effective patient communication is preferable to repeated referrals to specialists,¹⁴ judicious referral can engender trust in the physician’s competence if a diagnosis is not forthcoming.¹⁵

A unique challenge in teaching hospitals is the patient who refuses to interact with residents and students. It is best to acknowledge the patient’s concerns and offer alternative options:

• If the patient is worried about lack of completed training, then clarify the residents’ roles and reassure the patient that you communicate with residents and supervisors regarding any clinical decisions
• If possible, offer to see the patient alone or have the resident interact only on an as-needed basis
• Consider transferring the patient to a nonteaching service or to another hospital.

Admit failings. Although not easy, admitting to and apologizing for things that have gone wrong can help to calm a demanding patient and even reduce the likelihood of a lawsuit.¹⁶ The physician should not convey defensiveness and instead should acknowledge the limitations of the healthcare system.

Legitimize concerns—to an extent. Legitimizing a demanding patient’s concerns is important, but never be bullied into taking actions that create unnecessary risk. Upsetting a demanding patient is better than ordering tests or providing treatments that are potentially harmful. Good physician-patient communication can go a long way toward preventing adverse outcomes.

A 25-year-old professional presents to a new primary care provider concerned about a mole on her back. She discusses her sun exposure and family history of skin cancer and produces photographs documenting changes in the mole over time. Impressed with this level of detail, the physician takes time to explain his concerns before referring her to a dermatologist. Later that day, she calls to let the doctor know that her procedure has been scheduled and to thank him for his care. A few weeks after the mole is removed, she returns to discuss treatment options for the small remaining scar.

After this appointment, she calls the office repeatedly with a wide array of concerns, including an isolated symptom of fatigue that could indicate cancer and the relative merits of different sunscreens. She also sends the physician frequent e-mail messages through the personal health record system with pictures of inconsequential marks on her skin.

Needing reassurance is normal—to a point

Many patients seek reassurance from their physicians, and this can be done in a healthy and respectful manner. But requests for reassurance may escalate to becoming repeated, insistent, and even aggressive.¹ This can elicit reactions from physicians ranging from feeling annoyed and burdened to feeling angry and overwhelmed.¹⁷ This can lead to significant stress, which, if not managed well, can lead to excessively control of physician behavior and substandard care.¹⁸

Reassurance-seeking behavior can manifest anywhere along the spectrum of health and disease.¹⁹ It may be a symptom of health anxiety (ie, an exaggerated fear of illness) or hypochondria (ie, the persistent conviction that one is currently or likely to become ill).^20,21

Why so needy?

Attachment theory may help explain neediness. Parental bonding during childhood is associated with mental and physical health and health-related behaviors in adults.^22,23 People with insecure-preoccupied attachment styles tend to be overly emotionally dependent on the acceptance of others and may exhibit dependent and care-seeking behaviors with a physician.²⁴

Needy patients are often genuinely grateful for the care and attention from a physician.¹ In the beginning, the doctor may appreciate the patient’s validation of care provided, but this positive feeling wanes as calls and requests become incessant. As the physician’s exhaustion increases with each request, the care and well-being of the patient may no longer be the primary focus.¹

Set boundaries

Be alert to signs that a patient is crossing the line to an unhealthy need for reassurance. Address medical concerns appropriately, then institute clear guidelines for follow-up, which should be reinforced by the entire care team if necessary.²²

                The following strategies can be useful for defining boundaries:

• Instruct the patient to come to the office only for scheduled follow-up visits and to call only during office hours or in an emergency
• Be up-front about the time allowed for each appointment and ask the patient to help focus the discussion according to his or her main concerns²⁵
• Consider telling the patient, “You seem really worried about a lot of physical symptoms. I want to reassure you that I find no evidence of a medical illness that would require intervention. I am concerned about your phone calls and e-mails, and I wonder what would be helpful at this point to address your concerns?”
• Consider treating the patient for anxiety.

It is important to remain responsive to all types of patient concerns. Setting boundaries will guide patients to express health concerns in an appropriate manner so that they can be heard and managed.^18,19               

SELF-INJURY

A 22-year-old woman presents to the emergency department complaining of abdominal pain. After a full workup, the physician clears her medically and orders a few laboratory tests. As the nurse draws blood samples, she notices multiple fresh cuts on the patient’s arm and informs the physician. The patient is questioned and examined again and acknowledges occasional thoughts of self-harm. 

Her parents arrive and appear appropriately concerned. They report that she has been “cutting” for 4 years and is regularly seeing a therapist. However, they say that they are not worried for her safety and that she has an appointment with her therapist this week. Based on this, the emergency department physician discharges her.

Two weeks later, the patient returns to the emergency department with continued cutting and apparent cellulitis, prompting medical admission.

Self-injury presents in many ways

Self-injurious behaviors come in many forms other than the easily recognized one presented in this case: eg, a patient with cirrhosis who continues to drink, a patient with severe epilepsy who forgets to take medications and lands in the emergency department every week for status epilepticus, a patient with diabetes who eats a high-sugar diet, a patient with renal insufficiency who ignores water restrictions, or a patient with an organ transplant who misses medications and relapses.

There is an important psychological difference between patients who knowingly continue to challenge their luck and those who do not fully understand the severity of their condition and the consequences of their actions. The patient who simply does not “get it” can sometimes be managed effectively with education and by working with family members to create an environment to facilitate critical healthy behaviors.

Patients who willfully self-inflict injury are asking for help while doing everything to avoid being helped. They typically come to the office or the emergency department with assorted complaints, not divulging the real reason for their visit until the last minute as they are leaving. Then they drop a clue to the real concern, leaving the physician confused and frustrated.

Why deny an obvious problem?

Fear of the stigma of mental illness can be a major barrier to full disclosure of symptoms of psychological distress, and this especially tends to be the case for patients from some ethnic minorities.²⁶ 

On the other hand, patients with borderline or antisocial personality disorder (and less often, schizotypal or narcissistic personality disorder) frequently use denial as their primary psychological defense. Self-destructive denial is sometimes associated with traumatic memories, feelings of worthlessness, or a desire to reduce self-awareness and rationalize harmful behaviors. Such patients usually need lengthy treatment, and although the likelihood of cure is low, therapy can be helpful.^27–29  

Lessons from psychiatry              

It can be difficult to maintain empathy for patients who intentionally harm themselves. It is helpful to think of these patients as having a terminal illness and to recognize that they are suffering.

Different interventions have been studied for such patients. Dialectical behavior therapy, an approach that teaches patients better coping skills for regulating emotions, can help reduce maladaptive emotional distress and self-destructive behaviors.^30–32 Lessons from this approach can be applied by general practitioners:

• Engage the patient and together establish an effective crisis management plan
• With patient permission, involve the family in the treatment plan
• Set clear limits about self-harm: once the patient values interaction with the doctor, he or she will be less likely to break the agreement.

Patients with severe or continuing issues can be referred to appropriate services that offer dialectical behavior therapy or other intensive outpatient programs.

To handle our patient, one might start by saying, “I am sorry to see you back in the ER. We need to treat the cellulitis and get your outpatient behavioral team on board, so we know the plan.” Then, it is critical that the entire team keep to that plan.

Patients with challenging behaviors will always be part of medical practice. Physicians should be aware of their reactions and feelings towards a patient (known in psychiatry as countertransference), as they can increase physician stress and interfere with providing optimal care. Finding effective ways to work with difficult patients will avoid these outcomes.

Physicians also feel loss of control

Most physicians are resilient, but they can feel overwhelmed under certain circumstances. According to Scudder and Shanafelt,³³ a physician’s sense of well-being is influenced by several factors, including feelings of control in the workplace. It is easy to imagine how one or more difficult patients can create a sense of overwhelming demand and loss of control.

These tips can help maintain a sense of control and improve interactions with patients:

Have a plan for effective communication. Not having a plan for communicating in a difficult situation can contribute to loss of control in a hectic schedule that is already stretched to its limits. Practicing responses with a colleague for especially difficult patients or using a team approach can be helpful. Remaining compassionate while setting boundaries will result in the best outcome for the patient and physician.

Stop to analyze the situation. One of the tenets of cognitive-behavioral therapy is recognizing that negative thoughts can quickly take us down a dangerous path. Feeling angry and resentful without stopping to think and reflect on the causes can lead to the physician feeling victimized (just like many difficult patients feel).

It is important to step back and think, not just feel. While difficult patients present in different ways, all are reacting to losing control of their situation and want support. During a difficult interaction with a patient, pause to consider, “Why is he behaving this way? Is he afraid? Does he feel that no one cares?”

When a patient verbally attacks beyond what is appropriate, recognize that this is probably due less to anything the physician did than to the patient’s internal issues. Identifying the driver of a patient’s behavior makes it easier to control our own emotions.

Practice empathy. Difficult patients usually have something in their background that can help explain their inappropriate behavior, such as a lack of parental support or abuse. Being open to hearing their story facilitates an empathetic connection.

AVOIDING BURNOUT

Discuss problems

Sadly, physicians often neglect to talk with each other and with trainees about issues leading to burnout, thereby missing important opportunities for empathy, objectivity, reflection, and teaching moments.

Lessons can be gleaned from training in psychiatry, a field in which one must learn methods for working effectively in challenging situations. Dozens of scenarios are practiced using videotapes or observation through one-way mirrors. While not everyone has such opportunities, everyone can discuss issues with one another. Regularly scheduled facilitated groups devoted to discussing problems with colleagues can be enormously helpful.

Schedule quiet times

Mindfulness is an excellent way to spend a few minutes out of every 3- to 4-hour block. There are many ways to help facilitate such moments. Residents and students can be provided with a small book, Mindfulness on the Go,³⁷ aimed for the busy person.

Deep, slow breathing can bring rapid relief to intense negative feelings. Not only does it reduce anxiety faster than medication, but it is also free, is easily taught to others, and can be done unobtrusively. A short description of the role of the blood pH in managing the locus ceruleus and vagus nerve’s balance of sympathetic and parasympathetic activity may capture the curiosity of someone who may otherwise be resistant to the exercise.

Increasingly, hospitals are developing mindfulness sessions and offering a variety of skills physicians can put into their toolbox. Lessons from cognitive-behavioral therapy, dialectical behavior therapy, imagery, and muscle relaxation can help physicians in responding to patients. Investing in communication skills training specific to challenging behaviors seen in different specialties better equips physicians with more effective strategies.

From time to time, all physicians encounter patients whose behavior evokes negative emotions. In 1978, in an article titled “Taking care of the hateful patient,”¹ Groves detailed 4 types of patients—“dependent clingers, entitled demanders, manipulative help-rejecters, and self-destructive deniers”¹—that even the most seasoned physicians dread, and provided suggestions for managing interactions with them. The topic was revisited and updated in 2006 by Strous et al.²

See related editorial

Now, more than 10 years later, the challenge of how to interact with difficult patients is more relevant than ever. A cultural environment in which every patient can become an “expert” via the Internet has added new challenges. Patients who are especially time-consuming and emotionally draining exacerbate the many other pressures physicians face today (eg, increased paperwork, cost-consciousness, shortened appointment times, and the move to electronic medical records), contributing to physician burnout.

This article further updates the topic of managing challenging patients to reflect the current practice climate. We provide a more modern view of challenging patients and provide guidance on handling them. Although it may be tempting to diagnose some of these patients as having a personality disorder, it can often be more helpful to recognize patterns of behavior and have a clear plan for management. We also discuss general coping strategies for avoiding physician burnout.

INTERNET-SEEKING, QUESTIONING

A 45-year-old man carries in an overstuffed briefcase for his first primary care visit. He is a medical editor for a national journal and recently worked on a case study involving a rare cancer. As he edited, he recognized that he had the same symptoms and diagnosed himself with the same disease. He has brought with him a sheaf of articles he found on the Internet detailing clinical trials for experimental treatments. When the doctor begins to ask questions, he says the answers are irrelevant: he explains that he would have gone straight to an oncologist, but his insurance policy requires that he also have a primary care physician. He now expects the doctor to order magnetic resonance imaging, refer him to an oncologist, and support his request for the treatment he has identified as best.

The Internet: A blessing and a curse

Patients now have access to enormous amounts of information of variable accuracy. As in this case, patients may come to an appointment carrying early research studies that the physician has not yet reviewed. Others get their information from patient blogs that frequently offer opinions without evidence. Often, based on an advertisement or Internet reading, a patient requests a particular medication or test that may not be cost-effective or medically justified.

In a survey more than 10 years ago, more than 75% of physicians reported that they had patients who brought in information from online sources.³ Hu et al⁴ reported that 70% of patients who had online information planned to discuss it with their physicians. This practice is only growing, including in older patients.⁵

Physicians may feel confused and frustrated by patients who come armed with information. They may infer that patients do not trust them to diagnose correctly or treat optimally. In addition, discussing such information takes time, causing others on the schedule to wait, adding to the stress of coping with over-booked appointments.

Why so overprepared?

Patients who have or fear that they have cancer may be particularly worried that an important treatment will be overlooked.⁶ Since they feel that their life is hanging in the balance, their search for a definitive cure is understandable.

Internet-seeking, intensely questioning patients clearly want more information about the treatments they are receiving, alternative medical or procedural options, and complementary therapies.⁷ The response to their desire for more information affects their impression of physician empathy.⁸

Adapting to a more informed patient

Approaching these patients as an opportunity to educate may result in a more trusting patient and one more likely to be open to physician guidance and more likely to adhere to an advised treatment plan. Triangulation of the 3 actors—the physician, the patient, and the Web—can help patients to make more-informed choices and foster an attitude of partnership with the physician to lead them to optimal healthcare.

In a review of the impact of Internet use on healthcare and the physician-patient relationship, Wald et al⁹ urged physicians to:

• Adopt a positive attitude toward discussing Internet contributions
• Encourage patients to take an active role in maintaining health
• Acknowledge patient concerns and fears
• Avoid becoming defensive
• Recommend credible Internet sources.

Laing et al¹⁰ urged physicians to recognize rather than deny the effects of patients’ online searching for information and support, and not to ignore the potential impact on treatment. Consumers are gaining autonomy and self-efficacy, and Laing et al encouraged healthcare providers to develop ways to incorporate this new reality into the services they provide.¹⁰

How Web-based interaction can assist in patient decision-making for colorectal cancer screening is being explored.¹¹ Patients at home can use an online tool to learn about screening choices and would be more knowledgable and comfortable discussing the options with their care provider. The hope is to build in an automatic reminder for the clinician, who would better understand the patient’s preference before the office visit.

One approach to our patient is to say, “I can see how worried you are about having the same type of cancer you read about, and I want to help you. It is clear to me that you know a lot about healthcare, and I appreciate your engagement in your health. How about starting over? Let me ask a few questions so I can get a better perspective on your symptoms?” Many times, this strategy can help patients reframe their view and accept help.

A 60-year-old lawyer is admitted to the hospital for evaluation of abdominal pain. His physician recommends placing a nasogastric tube to provide nutrition while the evaluation is completed. His wife, a former nurse practitioner, insists that a nasogastric tube would be too dangerous and demands that he be allowed to eat instead. The couple declares the primary internal medicine physician incompetent, does not want any residents to be involved in his care, and antagonizes the nurses with constant demands. Soon, the entire team avoids the patient’s room.

Why so hostile?

People with demanding behavior often have a hostile and confrontational manner. They may use medical jargon and appear to believe that they know more than their healthcare team. Many demand to know why they have not been offered a particular test, diagnosis, or treatment, especially if they or a family member has a healthcare background. Such patients appear to feel that they are being treated incorrectly and leave us feeling vulnerable, wondering whether the patient might one day come back to haunt us with a lawsuit, especially if the medical outcome is unfavorable.

Understanding the motivation for the behavior can help a physician to empathize with the demanding patient.¹² Although it may seem that the demanding patient is trying to intimidate the physician, the goal is usually the same: to find the best possible treatment. Anger and hostility are often motivated by fear and a sense of losing control.

Ironically, this maladaptive coping style may alienate the very people who can help the patient. Hostile behavior evokes defensiveness and resentment in others. A power struggle may ensue: as the patient makes more unreasonable demands and threats, the physician reacts by asserting his or her views in an attempt to maintain control. Or the physician and the rest of the healthcare team may simply avoid the patient as much as possible.

Collaboration can defuse anger

The best strategy is often to steer the encounter away from a power struggle by legitimizing the patient’s feeling of entitlement to the best possible treatment.¹³ Take a collaborative stance with the patient, with the common goal of finding and implementing the most effective and lowest-risk diagnostic and treatment plan. Empathy and exploration of the patient’s concerns are always in order.

Physicians can try several strategies to improve interactions with demanding patients and caregivers:

Be consistent. All members of the healthcare team, including nurses and specialists, should convey consistent messages regarding diagnostic testing and treatment plans.

Don’t play the game. Demanding patients often complain about being mistreated by other healthcare providers. When confronted with such complaints, acknowledge the patient’s feelings while refraining from blaming or criticizing other members of the healthcare team.

Clarify expectations. Clarifying expectations from the initial patient encounter can prevent conflicts later. Support a patient who must accept a diagnosis of a terminal illness, and then when appropriate, discuss goals moving forward. Collaboration within the framework of reasonable expectations is key.

For our case, the physician could say, “We want to work with you together as a team. We will work hard to address your concerns, but our nurses must have a safe environment in which to help you.” Such a statement highlights shared goals and expression of concern without judgment. The next step is to clarify expectations by describing the hospital routine and how decisions are made.

Offer choices. Offering choices whenever possible can help a demanding patient feel more in control. Rather than dismiss a patient’s ideas, explore the alternatives. While effective patient communication is preferable to repeated referrals to specialists,¹⁴ judicious referral can engender trust in the physician’s competence if a diagnosis is not forthcoming.¹⁵

A unique challenge in teaching hospitals is the patient who refuses to interact with residents and students. It is best to acknowledge the patient’s concerns and offer alternative options:

• If the patient is worried about lack of completed training, then clarify the residents’ roles and reassure the patient that you communicate with residents and supervisors regarding any clinical decisions
• If possible, offer to see the patient alone or have the resident interact only on an as-needed basis
• Consider transferring the patient to a nonteaching service or to another hospital.

Admit failings. Although not easy, admitting to and apologizing for things that have gone wrong can help to calm a demanding patient and even reduce the likelihood of a lawsuit.¹⁶ The physician should not convey defensiveness and instead should acknowledge the limitations of the healthcare system.

Legitimize concerns—to an extent. Legitimizing a demanding patient’s concerns is important, but never be bullied into taking actions that create unnecessary risk. Upsetting a demanding patient is better than ordering tests or providing treatments that are potentially harmful. Good physician-patient communication can go a long way toward preventing adverse outcomes.

A 25-year-old professional presents to a new primary care provider concerned about a mole on her back. She discusses her sun exposure and family history of skin cancer and produces photographs documenting changes in the mole over time. Impressed with this level of detail, the physician takes time to explain his concerns before referring her to a dermatologist. Later that day, she calls to let the doctor know that her procedure has been scheduled and to thank him for his care. A few weeks after the mole is removed, she returns to discuss treatment options for the small remaining scar.

After this appointment, she calls the office repeatedly with a wide array of concerns, including an isolated symptom of fatigue that could indicate cancer and the relative merits of different sunscreens. She also sends the physician frequent e-mail messages through the personal health record system with pictures of inconsequential marks on her skin.

Needing reassurance is normal—to a point

Many patients seek reassurance from their physicians, and this can be done in a healthy and respectful manner. But requests for reassurance may escalate to becoming repeated, insistent, and even aggressive.¹ This can elicit reactions from physicians ranging from feeling annoyed and burdened to feeling angry and overwhelmed.¹⁷ This can lead to significant stress, which, if not managed well, can lead to excessively control of physician behavior and substandard care.¹⁸

Reassurance-seeking behavior can manifest anywhere along the spectrum of health and disease.¹⁹ It may be a symptom of health anxiety (ie, an exaggerated fear of illness) or hypochondria (ie, the persistent conviction that one is currently or likely to become ill).^20,21

Why so needy?

Attachment theory may help explain neediness. Parental bonding during childhood is associated with mental and physical health and health-related behaviors in adults.^22,23 People with insecure-preoccupied attachment styles tend to be overly emotionally dependent on the acceptance of others and may exhibit dependent and care-seeking behaviors with a physician.²⁴

Needy patients are often genuinely grateful for the care and attention from a physician.¹ In the beginning, the doctor may appreciate the patient’s validation of care provided, but this positive feeling wanes as calls and requests become incessant. As the physician’s exhaustion increases with each request, the care and well-being of the patient may no longer be the primary focus.¹

Set boundaries

Be alert to signs that a patient is crossing the line to an unhealthy need for reassurance. Address medical concerns appropriately, then institute clear guidelines for follow-up, which should be reinforced by the entire care team if necessary.²²

                The following strategies can be useful for defining boundaries:

• Instruct the patient to come to the office only for scheduled follow-up visits and to call only during office hours or in an emergency
• Be up-front about the time allowed for each appointment and ask the patient to help focus the discussion according to his or her main concerns²⁵
• Consider telling the patient, “You seem really worried about a lot of physical symptoms. I want to reassure you that I find no evidence of a medical illness that would require intervention. I am concerned about your phone calls and e-mails, and I wonder what would be helpful at this point to address your concerns?”
• Consider treating the patient for anxiety.

It is important to remain responsive to all types of patient concerns. Setting boundaries will guide patients to express health concerns in an appropriate manner so that they can be heard and managed.^18,19               

SELF-INJURY

A 22-year-old woman presents to the emergency department complaining of abdominal pain. After a full workup, the physician clears her medically and orders a few laboratory tests. As the nurse draws blood samples, she notices multiple fresh cuts on the patient’s arm and informs the physician. The patient is questioned and examined again and acknowledges occasional thoughts of self-harm. 

Her parents arrive and appear appropriately concerned. They report that she has been “cutting” for 4 years and is regularly seeing a therapist. However, they say that they are not worried for her safety and that she has an appointment with her therapist this week. Based on this, the emergency department physician discharges her.

Two weeks later, the patient returns to the emergency department with continued cutting and apparent cellulitis, prompting medical admission.

Self-injury presents in many ways

Self-injurious behaviors come in many forms other than the easily recognized one presented in this case: eg, a patient with cirrhosis who continues to drink, a patient with severe epilepsy who forgets to take medications and lands in the emergency department every week for status epilepticus, a patient with diabetes who eats a high-sugar diet, a patient with renal insufficiency who ignores water restrictions, or a patient with an organ transplant who misses medications and relapses.

There is an important psychological difference between patients who knowingly continue to challenge their luck and those who do not fully understand the severity of their condition and the consequences of their actions. The patient who simply does not “get it” can sometimes be managed effectively with education and by working with family members to create an environment to facilitate critical healthy behaviors.

Patients who willfully self-inflict injury are asking for help while doing everything to avoid being helped. They typically come to the office or the emergency department with assorted complaints, not divulging the real reason for their visit until the last minute as they are leaving. Then they drop a clue to the real concern, leaving the physician confused and frustrated.

Why deny an obvious problem?

Fear of the stigma of mental illness can be a major barrier to full disclosure of symptoms of psychological distress, and this especially tends to be the case for patients from some ethnic minorities.²⁶ 

On the other hand, patients with borderline or antisocial personality disorder (and less often, schizotypal or narcissistic personality disorder) frequently use denial as their primary psychological defense. Self-destructive denial is sometimes associated with traumatic memories, feelings of worthlessness, or a desire to reduce self-awareness and rationalize harmful behaviors. Such patients usually need lengthy treatment, and although the likelihood of cure is low, therapy can be helpful.^27–29  

Lessons from psychiatry              

It can be difficult to maintain empathy for patients who intentionally harm themselves. It is helpful to think of these patients as having a terminal illness and to recognize that they are suffering.

Different interventions have been studied for such patients. Dialectical behavior therapy, an approach that teaches patients better coping skills for regulating emotions, can help reduce maladaptive emotional distress and self-destructive behaviors.^30–32 Lessons from this approach can be applied by general practitioners:

• Engage the patient and together establish an effective crisis management plan
• With patient permission, involve the family in the treatment plan
• Set clear limits about self-harm: once the patient values interaction with the doctor, he or she will be less likely to break the agreement.

Patients with severe or continuing issues can be referred to appropriate services that offer dialectical behavior therapy or other intensive outpatient programs.

To handle our patient, one might start by saying, “I am sorry to see you back in the ER. We need to treat the cellulitis and get your outpatient behavioral team on board, so we know the plan.” Then, it is critical that the entire team keep to that plan.

Patients with challenging behaviors will always be part of medical practice. Physicians should be aware of their reactions and feelings towards a patient (known in psychiatry as countertransference), as they can increase physician stress and interfere with providing optimal care. Finding effective ways to work with difficult patients will avoid these outcomes.

Physicians also feel loss of control

Most physicians are resilient, but they can feel overwhelmed under certain circumstances. According to Scudder and Shanafelt,³³ a physician’s sense of well-being is influenced by several factors, including feelings of control in the workplace. It is easy to imagine how one or more difficult patients can create a sense of overwhelming demand and loss of control.

These tips can help maintain a sense of control and improve interactions with patients:

Have a plan for effective communication. Not having a plan for communicating in a difficult situation can contribute to loss of control in a hectic schedule that is already stretched to its limits. Practicing responses with a colleague for especially difficult patients or using a team approach can be helpful. Remaining compassionate while setting boundaries will result in the best outcome for the patient and physician.

Stop to analyze the situation. One of the tenets of cognitive-behavioral therapy is recognizing that negative thoughts can quickly take us down a dangerous path. Feeling angry and resentful without stopping to think and reflect on the causes can lead to the physician feeling victimized (just like many difficult patients feel).

It is important to step back and think, not just feel. While difficult patients present in different ways, all are reacting to losing control of their situation and want support. During a difficult interaction with a patient, pause to consider, “Why is he behaving this way? Is he afraid? Does he feel that no one cares?”

When a patient verbally attacks beyond what is appropriate, recognize that this is probably due less to anything the physician did than to the patient’s internal issues. Identifying the driver of a patient’s behavior makes it easier to control our own emotions.

Practice empathy. Difficult patients usually have something in their background that can help explain their inappropriate behavior, such as a lack of parental support or abuse. Being open to hearing their story facilitates an empathetic connection.

AVOIDING BURNOUT

Discuss problems

Sadly, physicians often neglect to talk with each other and with trainees about issues leading to burnout, thereby missing important opportunities for empathy, objectivity, reflection, and teaching moments.

Lessons can be gleaned from training in psychiatry, a field in which one must learn methods for working effectively in challenging situations. Dozens of scenarios are practiced using videotapes or observation through one-way mirrors. While not everyone has such opportunities, everyone can discuss issues with one another. Regularly scheduled facilitated groups devoted to discussing problems with colleagues can be enormously helpful.

Schedule quiet times

Mindfulness is an excellent way to spend a few minutes out of every 3- to 4-hour block. There are many ways to help facilitate such moments. Residents and students can be provided with a small book, Mindfulness on the Go,³⁷ aimed for the busy person.

Deep, slow breathing can bring rapid relief to intense negative feelings. Not only does it reduce anxiety faster than medication, but it is also free, is easily taught to others, and can be done unobtrusively. A short description of the role of the blood pH in managing the locus ceruleus and vagus nerve’s balance of sympathetic and parasympathetic activity may capture the curiosity of someone who may otherwise be resistant to the exercise.

Increasingly, hospitals are developing mindfulness sessions and offering a variety of skills physicians can put into their toolbox. Lessons from cognitive-behavioral therapy, dialectical behavior therapy, imagery, and muscle relaxation can help physicians in responding to patients. Investing in communication skills training specific to challenging behaviors seen in different specialties better equips physicians with more effective strategies.

From time to time, all physicians encounter patients whose behavior evokes negative emotions. In 1978, in an article titled “Taking care of the hateful patient,”¹ Groves detailed 4 types of patients—“dependent clingers, entitled demanders, manipulative help-rejecters, and self-destructive deniers”¹—that even the most seasoned physicians dread, and provided suggestions for managing interactions with them. The topic was revisited and updated in 2006 by Strous et al.²

See related editorial

Now, more than 10 years later, the challenge of how to interact with difficult patients is more relevant than ever. A cultural environment in which every patient can become an “expert” via the Internet has added new challenges. Patients who are especially time-consuming and emotionally draining exacerbate the many other pressures physicians face today (eg, increased paperwork, cost-consciousness, shortened appointment times, and the move to electronic medical records), contributing to physician burnout.

This article further updates the topic of managing challenging patients to reflect the current practice climate. We provide a more modern view of challenging patients and provide guidance on handling them. Although it may be tempting to diagnose some of these patients as having a personality disorder, it can often be more helpful to recognize patterns of behavior and have a clear plan for management. We also discuss general coping strategies for avoiding physician burnout.

INTERNET-SEEKING, QUESTIONING

A 45-year-old man carries in an overstuffed briefcase for his first primary care visit. He is a medical editor for a national journal and recently worked on a case study involving a rare cancer. As he edited, he recognized that he had the same symptoms and diagnosed himself with the same disease. He has brought with him a sheaf of articles he found on the Internet detailing clinical trials for experimental treatments. When the doctor begins to ask questions, he says the answers are irrelevant: he explains that he would have gone straight to an oncologist, but his insurance policy requires that he also have a primary care physician. He now expects the doctor to order magnetic resonance imaging, refer him to an oncologist, and support his request for the treatment he has identified as best.

The Internet: A blessing and a curse

Patients now have access to enormous amounts of information of variable accuracy. As in this case, patients may come to an appointment carrying early research studies that the physician has not yet reviewed. Others get their information from patient blogs that frequently offer opinions without evidence. Often, based on an advertisement or Internet reading, a patient requests a particular medication or test that may not be cost-effective or medically justified.

In a survey more than 10 years ago, more than 75% of physicians reported that they had patients who brought in information from online sources.³ Hu et al⁴ reported that 70% of patients who had online information planned to discuss it with their physicians. This practice is only growing, including in older patients.⁵

Physicians may feel confused and frustrated by patients who come armed with information. They may infer that patients do not trust them to diagnose correctly or treat optimally. In addition, discussing such information takes time, causing others on the schedule to wait, adding to the stress of coping with over-booked appointments.

Why so overprepared?

Patients who have or fear that they have cancer may be particularly worried that an important treatment will be overlooked.⁶ Since they feel that their life is hanging in the balance, their search for a definitive cure is understandable.

Internet-seeking, intensely questioning patients clearly want more information about the treatments they are receiving, alternative medical or procedural options, and complementary therapies.⁷ The response to their desire for more information affects their impression of physician empathy.⁸

Adapting to a more informed patient

Approaching these patients as an opportunity to educate may result in a more trusting patient and one more likely to be open to physician guidance and more likely to adhere to an advised treatment plan. Triangulation of the 3 actors—the physician, the patient, and the Web—can help patients to make more-informed choices and foster an attitude of partnership with the physician to lead them to optimal healthcare.

In a review of the impact of Internet use on healthcare and the physician-patient relationship, Wald et al⁹ urged physicians to:

• Adopt a positive attitude toward discussing Internet contributions
• Encourage patients to take an active role in maintaining health
• Acknowledge patient concerns and fears
• Avoid becoming defensive
• Recommend credible Internet sources.

Laing et al¹⁰ urged physicians to recognize rather than deny the effects of patients’ online searching for information and support, and not to ignore the potential impact on treatment. Consumers are gaining autonomy and self-efficacy, and Laing et al encouraged healthcare providers to develop ways to incorporate this new reality into the services they provide.¹⁰

How Web-based interaction can assist in patient decision-making for colorectal cancer screening is being explored.¹¹ Patients at home can use an online tool to learn about screening choices and would be more knowledgable and comfortable discussing the options with their care provider. The hope is to build in an automatic reminder for the clinician, who would better understand the patient’s preference before the office visit.

One approach to our patient is to say, “I can see how worried you are about having the same type of cancer you read about, and I want to help you. It is clear to me that you know a lot about healthcare, and I appreciate your engagement in your health. How about starting over? Let me ask a few questions so I can get a better perspective on your symptoms?” Many times, this strategy can help patients reframe their view and accept help.

A 60-year-old lawyer is admitted to the hospital for evaluation of abdominal pain. His physician recommends placing a nasogastric tube to provide nutrition while the evaluation is completed. His wife, a former nurse practitioner, insists that a nasogastric tube would be too dangerous and demands that he be allowed to eat instead. The couple declares the primary internal medicine physician incompetent, does not want any residents to be involved in his care, and antagonizes the nurses with constant demands. Soon, the entire team avoids the patient’s room.

Why so hostile?

People with demanding behavior often have a hostile and confrontational manner. They may use medical jargon and appear to believe that they know more than their healthcare team. Many demand to know why they have not been offered a particular test, diagnosis, or treatment, especially if they or a family member has a healthcare background. Such patients appear to feel that they are being treated incorrectly and leave us feeling vulnerable, wondering whether the patient might one day come back to haunt us with a lawsuit, especially if the medical outcome is unfavorable.

Understanding the motivation for the behavior can help a physician to empathize with the demanding patient.¹² Although it may seem that the demanding patient is trying to intimidate the physician, the goal is usually the same: to find the best possible treatment. Anger and hostility are often motivated by fear and a sense of losing control.

Ironically, this maladaptive coping style may alienate the very people who can help the patient. Hostile behavior evokes defensiveness and resentment in others. A power struggle may ensue: as the patient makes more unreasonable demands and threats, the physician reacts by asserting his or her views in an attempt to maintain control. Or the physician and the rest of the healthcare team may simply avoid the patient as much as possible.

Collaboration can defuse anger

The best strategy is often to steer the encounter away from a power struggle by legitimizing the patient’s feeling of entitlement to the best possible treatment.¹³ Take a collaborative stance with the patient, with the common goal of finding and implementing the most effective and lowest-risk diagnostic and treatment plan. Empathy and exploration of the patient’s concerns are always in order.

Physicians can try several strategies to improve interactions with demanding patients and caregivers:

Be consistent. All members of the healthcare team, including nurses and specialists, should convey consistent messages regarding diagnostic testing and treatment plans.

Don’t play the game. Demanding patients often complain about being mistreated by other healthcare providers. When confronted with such complaints, acknowledge the patient’s feelings while refraining from blaming or criticizing other members of the healthcare team.

Clarify expectations. Clarifying expectations from the initial patient encounter can prevent conflicts later. Support a patient who must accept a diagnosis of a terminal illness, and then when appropriate, discuss goals moving forward. Collaboration within the framework of reasonable expectations is key.

For our case, the physician could say, “We want to work with you together as a team. We will work hard to address your concerns, but our nurses must have a safe environment in which to help you.” Such a statement highlights shared goals and expression of concern without judgment. The next step is to clarify expectations by describing the hospital routine and how decisions are made.

Offer choices. Offering choices whenever possible can help a demanding patient feel more in control. Rather than dismiss a patient’s ideas, explore the alternatives. While effective patient communication is preferable to repeated referrals to specialists,¹⁴ judicious referral can engender trust in the physician’s competence if a diagnosis is not forthcoming.¹⁵

A unique challenge in teaching hospitals is the patient who refuses to interact with residents and students. It is best to acknowledge the patient’s concerns and offer alternative options:

• If the patient is worried about lack of completed training, then clarify the residents’ roles and reassure the patient that you communicate with residents and supervisors regarding any clinical decisions
• If possible, offer to see the patient alone or have the resident interact only on an as-needed basis
• Consider transferring the patient to a nonteaching service or to another hospital.

Admit failings. Although not easy, admitting to and apologizing for things that have gone wrong can help to calm a demanding patient and even reduce the likelihood of a lawsuit.¹⁶ The physician should not convey defensiveness and instead should acknowledge the limitations of the healthcare system.

Legitimize concerns—to an extent. Legitimizing a demanding patient’s concerns is important, but never be bullied into taking actions that create unnecessary risk. Upsetting a demanding patient is better than ordering tests or providing treatments that are potentially harmful. Good physician-patient communication can go a long way toward preventing adverse outcomes.

A 25-year-old professional presents to a new primary care provider concerned about a mole on her back. She discusses her sun exposure and family history of skin cancer and produces photographs documenting changes in the mole over time. Impressed with this level of detail, the physician takes time to explain his concerns before referring her to a dermatologist. Later that day, she calls to let the doctor know that her procedure has been scheduled and to thank him for his care. A few weeks after the mole is removed, she returns to discuss treatment options for the small remaining scar.

After this appointment, she calls the office repeatedly with a wide array of concerns, including an isolated symptom of fatigue that could indicate cancer and the relative merits of different sunscreens. She also sends the physician frequent e-mail messages through the personal health record system with pictures of inconsequential marks on her skin.

Needing reassurance is normal—to a point

Many patients seek reassurance from their physicians, and this can be done in a healthy and respectful manner. But requests for reassurance may escalate to becoming repeated, insistent, and even aggressive.¹ This can elicit reactions from physicians ranging from feeling annoyed and burdened to feeling angry and overwhelmed.¹⁷ This can lead to significant stress, which, if not managed well, can lead to excessively control of physician behavior and substandard care.¹⁸

Reassurance-seeking behavior can manifest anywhere along the spectrum of health and disease.¹⁹ It may be a symptom of health anxiety (ie, an exaggerated fear of illness) or hypochondria (ie, the persistent conviction that one is currently or likely to become ill).^20,21

Why so needy?

Attachment theory may help explain neediness. Parental bonding during childhood is associated with mental and physical health and health-related behaviors in adults.^22,23 People with insecure-preoccupied attachment styles tend to be overly emotionally dependent on the acceptance of others and may exhibit dependent and care-seeking behaviors with a physician.²⁴

Needy patients are often genuinely grateful for the care and attention from a physician.¹ In the beginning, the doctor may appreciate the patient’s validation of care provided, but this positive feeling wanes as calls and requests become incessant. As the physician’s exhaustion increases with each request, the care and well-being of the patient may no longer be the primary focus.¹

Set boundaries

Be alert to signs that a patient is crossing the line to an unhealthy need for reassurance. Address medical concerns appropriately, then institute clear guidelines for follow-up, which should be reinforced by the entire care team if necessary.²²

                The following strategies can be useful for defining boundaries:

• Instruct the patient to come to the office only for scheduled follow-up visits and to call only during office hours or in an emergency
• Be up-front about the time allowed for each appointment and ask the patient to help focus the discussion according to his or her main concerns²⁵
• Consider telling the patient, “You seem really worried about a lot of physical symptoms. I want to reassure you that I find no evidence of a medical illness that would require intervention. I am concerned about your phone calls and e-mails, and I wonder what would be helpful at this point to address your concerns?”
• Consider treating the patient for anxiety.

It is important to remain responsive to all types of patient concerns. Setting boundaries will guide patients to express health concerns in an appropriate manner so that they can be heard and managed.^18,19               

SELF-INJURY

A 22-year-old woman presents to the emergency department complaining of abdominal pain. After a full workup, the physician clears her medically and orders a few laboratory tests. As the nurse draws blood samples, she notices multiple fresh cuts on the patient’s arm and informs the physician. The patient is questioned and examined again and acknowledges occasional thoughts of self-harm. 

Her parents arrive and appear appropriately concerned. They report that she has been “cutting” for 4 years and is regularly seeing a therapist. However, they say that they are not worried for her safety and that she has an appointment with her therapist this week. Based on this, the emergency department physician discharges her.

Two weeks later, the patient returns to the emergency department with continued cutting and apparent cellulitis, prompting medical admission.

Self-injury presents in many ways

Self-injurious behaviors come in many forms other than the easily recognized one presented in this case: eg, a patient with cirrhosis who continues to drink, a patient with severe epilepsy who forgets to take medications and lands in the emergency department every week for status epilepticus, a patient with diabetes who eats a high-sugar diet, a patient with renal insufficiency who ignores water restrictions, or a patient with an organ transplant who misses medications and relapses.

There is an important psychological difference between patients who knowingly continue to challenge their luck and those who do not fully understand the severity of their condition and the consequences of their actions. The patient who simply does not “get it” can sometimes be managed effectively with education and by working with family members to create an environment to facilitate critical healthy behaviors.

Patients who willfully self-inflict injury are asking for help while doing everything to avoid being helped. They typically come to the office or the emergency department with assorted complaints, not divulging the real reason for their visit until the last minute as they are leaving. Then they drop a clue to the real concern, leaving the physician confused and frustrated.

Why deny an obvious problem?

Fear of the stigma of mental illness can be a major barrier to full disclosure of symptoms of psychological distress, and this especially tends to be the case for patients from some ethnic minorities.²⁶ 

On the other hand, patients with borderline or antisocial personality disorder (and less often, schizotypal or narcissistic personality disorder) frequently use denial as their primary psychological defense. Self-destructive denial is sometimes associated with traumatic memories, feelings of worthlessness, or a desire to reduce self-awareness and rationalize harmful behaviors. Such patients usually need lengthy treatment, and although the likelihood of cure is low, therapy can be helpful.^27–29  

Lessons from psychiatry              

It can be difficult to maintain empathy for patients who intentionally harm themselves. It is helpful to think of these patients as having a terminal illness and to recognize that they are suffering.

Different interventions have been studied for such patients. Dialectical behavior therapy, an approach that teaches patients better coping skills for regulating emotions, can help reduce maladaptive emotional distress and self-destructive behaviors.^30–32 Lessons from this approach can be applied by general practitioners:

• Engage the patient and together establish an effective crisis management plan
• With patient permission, involve the family in the treatment plan
• Set clear limits about self-harm: once the patient values interaction with the doctor, he or she will be less likely to break the agreement.

Patients with severe or continuing issues can be referred to appropriate services that offer dialectical behavior therapy or other intensive outpatient programs.

To handle our patient, one might start by saying, “I am sorry to see you back in the ER. We need to treat the cellulitis and get your outpatient behavioral team on board, so we know the plan.” Then, it is critical that the entire team keep to that plan.

Patients with challenging behaviors will always be part of medical practice. Physicians should be aware of their reactions and feelings towards a patient (known in psychiatry as countertransference), as they can increase physician stress and interfere with providing optimal care. Finding effective ways to work with difficult patients will avoid these outcomes.

Physicians also feel loss of control

Most physicians are resilient, but they can feel overwhelmed under certain circumstances. According to Scudder and Shanafelt,³³ a physician’s sense of well-being is influenced by several factors, including feelings of control in the workplace. It is easy to imagine how one or more difficult patients can create a sense of overwhelming demand and loss of control.

These tips can help maintain a sense of control and improve interactions with patients:

Have a plan for effective communication. Not having a plan for communicating in a difficult situation can contribute to loss of control in a hectic schedule that is already stretched to its limits. Practicing responses with a colleague for especially difficult patients or using a team approach can be helpful. Remaining compassionate while setting boundaries will result in the best outcome for the patient and physician.

Stop to analyze the situation. One of the tenets of cognitive-behavioral therapy is recognizing that negative thoughts can quickly take us down a dangerous path. Feeling angry and resentful without stopping to think and reflect on the causes can lead to the physician feeling victimized (just like many difficult patients feel).

It is important to step back and think, not just feel. While difficult patients present in different ways, all are reacting to losing control of their situation and want support. During a difficult interaction with a patient, pause to consider, “Why is he behaving this way? Is he afraid? Does he feel that no one cares?”

When a patient verbally attacks beyond what is appropriate, recognize that this is probably due less to anything the physician did than to the patient’s internal issues. Identifying the driver of a patient’s behavior makes it easier to control our own emotions.

Practice empathy. Difficult patients usually have something in their background that can help explain their inappropriate behavior, such as a lack of parental support or abuse. Being open to hearing their story facilitates an empathetic connection.

AVOIDING BURNOUT

Discuss problems

Sadly, physicians often neglect to talk with each other and with trainees about issues leading to burnout, thereby missing important opportunities for empathy, objectivity, reflection, and teaching moments.

Lessons can be gleaned from training in psychiatry, a field in which one must learn methods for working effectively in challenging situations. Dozens of scenarios are practiced using videotapes or observation through one-way mirrors. While not everyone has such opportunities, everyone can discuss issues with one another. Regularly scheduled facilitated groups devoted to discussing problems with colleagues can be enormously helpful.

Schedule quiet times

Mindfulness is an excellent way to spend a few minutes out of every 3- to 4-hour block. There are many ways to help facilitate such moments. Residents and students can be provided with a small book, Mindfulness on the Go,³⁷ aimed for the busy person.

Deep, slow breathing can bring rapid relief to intense negative feelings. Not only does it reduce anxiety faster than medication, but it is also free, is easily taught to others, and can be done unobtrusively. A short description of the role of the blood pH in managing the locus ceruleus and vagus nerve’s balance of sympathetic and parasympathetic activity may capture the curiosity of someone who may otherwise be resistant to the exercise.

Increasingly, hospitals are developing mindfulness sessions and offering a variety of skills physicians can put into their toolbox. Lessons from cognitive-behavioral therapy, dialectical behavior therapy, imagery, and muscle relaxation can help physicians in responding to patients. Investing in communication skills training specific to challenging behaviors seen in different specialties better equips physicians with more effective strategies.

In 1944, Hans Asperger described a subset of children who exhibited “a lack of empathy, little ability to form friendships, one-sided conversation, intense absorption in a special interest, and clumsy movements.”¹

In recent years, Asperger syndrome has become increasingly recognized in the medical community and by the general public. It has been popularized in the media in John Elder Robison’s bestselling book, Look Me in the Eye; with the television character Sheldon Cooper in The Big Bang Theory; and in the 2009 film, Adam, a romantic comedy with the title character accurately portraying a young man with Asperger syndrome.

See related editorial

In this article, we discuss the causes and characteristics of Asperger syndrome, with special focus on adults: how it presents, how to treat it, and how to enhance the delivery of care.

PREVALENCE SEEMS TO BE INCREASING

One in 88 children is diagnosed with an autism spectrum disorder, and the rates of Asperger syndrome and other autism spectrum disorders appear to be increasing.² Whether this increase is the result of more thorough assessment and identification or of environmental changes is hotly debated.³ The rise began before the proposed changes to the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-V) to combine autism, Asperger syndrome, and pervasive developmental disorder not otherwise specified to simplify diagnosis.⁴ Asperger syndrome affects males three to four times more often than females.⁵ For most patients, the effects persist throughout life.

BEHAVIORAL IMPAIRMENTS CHARACTERIZE THE SYNDROME

Poor social skills are a hallmark

People with Asperger syndrome struggle with social interaction and face challenges in forming and maintaining relationships. They tend to have less eye contact (often the first indicator), smiling, animated speech, and physical communication such as hand gestures. They tend not to solicit another’s attention to something they themselves find interesting. They often lack social and emotional reciprocity and have difficulty understanding another person’s thoughts or feelings,⁶ and they have marked difficulty reading social cues. Some adults may appear rigid, selfish, or narrow-minded.

Sometimes behavior is in the normal range but is out of context for a particular situation.⁷ For example, a preprofessional student with Asperger syndrome might walk into a psychiatric evaluation to assess fitness for duty and take a seat cross-legged on the floor and have a snack. Poor grooming inappropriate for the occasion may also be observed, such as showing up for a formal photo with unkempt hair and in a stained shirt that is half tucked in.

Many adults with autism spectrum disorders are oblivious to their social reputation.⁸ They are often unaware that their behavior is out of place and only learn that it is not normal when they are told. Others recognize that they have trouble empathizing with or understanding the perspectives of others, but they are at a loss as to how to improve. The syndrome has a tremendous impact on broader aspects of life, such as employment, functional independence, relationships, and social networks.

Other odd behaviors are common

Repetitive behaviors. Many patients with Asperger syndrome have repetitive behaviors, which can manifest as repeating phrases or expressions, attempting to imitate others, and rocking. They tend to follow routines, do not enjoy spontaneity, and are more inflexible and uncomfortable when their planned regimen is altered.

Gait or balance issues may be observed on physical examination.⁹ Uncoordinated motion and clumsiness are common,¹⁰ and some patients may have a bouncy, stilted gait or may walk on their toes, although the latter is more common in children than adults. Many patients have illegible handwriting.¹¹

Fixations. Many Asperger patients have unusual and intense obsessions with subjects like numbers, dates, or aerodynamics of planes. Children with such fascinations are described as “little professors” or as having “geek syndrome.”¹² Certain obsessions often continue into adulthood, although one area of interest may fade and another may take over. Such “expertise” in adults may gain them respect, even though they may seem very odd in other ways.

Lack of boundaries. Patients with Asperger syndrome tend to have poor spatial awareness and to be unaware of physical boundaries, standing too close for others’ comfort or unusually far away. Lack of boundaries may extend beyond the physical, as patients may inappropriately help themselves to food or use an item belonging to another without invitation, being unaware that the behavior may be intrusive or inappropriate.

BEHAVIORAL ASSESSMENTS HELP MAKE DIAGNOSIS

Asperger syndrome is most often diagnosed in early childhood, although it may remain undiagnosed into adulthood. Coexisting depression, attention deficit hyperactivity disorder, or anxiety disorders are also often present.

Establishing the diagnosis is aided by information from family members and others who interact with the patient, from the observations of trained professionals, and from self-reported data. However, self-reported assessments are not always reliable, because the syndrome can affect insight.

The most common assessment tool for autism spectrum disorders is the Autism Diagnostic Interview-Revised (ADI-R),¹³ a battery of tests given in a structured interview to identify and quantify symptoms, determine where a patient falls on the autism spectrum,¹⁴ and point toward interventions. The ADI-R also organizes critical developmental history to evaluate if something else is present, such as prodromal schizophrenia. Although the ADI-R can be very useful in the diagnostic process, it is based on parental reporting, which is neither always available nor fully reliable.

A specific diagnostic tool for adults is the Adult Asperger Assessment.¹⁵ Patients are asked to complete two screening questionnaires that gauge cognitive function and gather information about thinking, processing, and behavior.

Table 1 lists the criteria for Asperger syndrome from the DSM Fourth Edition, Text Revision (DSM-IV-TR).¹⁶ Asperger syndrome differs from general autism in that it is not associated with language delay. In addition, patients with Asperger syndrome usually have average or above-average IQ scores.¹⁷ Still, determining whether a patient has Asperger syndrome or high-functioning autism is sometimes challenging.⁶

In DSM-V, Asperger syndrome will be subsumed under autism spectrum disorder

In 2013, the DSM-V will replace the DSMIV-TR and will combine autism, Asperger syndrome, and pervasive developmental disorder not otherwise classified into a single diagnosis: autism spectrum disorder. The new system uses two instead of the previous three clusters of core symptoms, centered on “social reciprocity and communication” in one arm and “restricted interests and repetitive behavior” in the other.¹⁸ There will be less emphasis on play and imagination than in the past. Some authors suggest adding sensory criteria, particularly reduced pain and increased hearing sensitivity.¹⁹

The proposed system is sensitive and specific for autism spectrum disorders, allows early diagnosis, and indicates degree of severity.²⁰ It is hoped that the new system, which accounts for the range and severity of symptoms, should help physicians refer patients to the correct level of treatment.

On the other hand, it may be difficult to think of the three disorders as a single diagnosis. Asperger syndrome manifests in distinct ways, and clear behavioral criteria for diagnosis can be invaluable in helping people with the syndrome. Also, the public may continue to refer to it as Asperger syndrome, and parents and patients may feel uncomfortable having it considered to be the same diagnosis as autism.

BEHAVIORAL THERAPY CAN HELP ACHIEVE INDEPENDENCE

Although there is no cure for Asperger syndrome, various interventions can dramatically improve quality of life and independence. The health care team may include a primary care physician, psychologist, psychiatrist, neurologist, and speech therapist.

Behavioral therapies can help patients with Asperger syndrome learn skills to reduce their symptoms. Occupational and physical therapy can improve dexterity, fluidity, and coordination. Desensitization training may help patients adapt to uncomfortable sights, sounds, or smells that may arise. This can be critical in a job situation. For example, while an average person exposed to a foul odor in public is likely to react tactfully, a person with Asperger syndrome may scream loudly, make inappropriate comments, or run from the room. Social training, especially targeted to the workplace, can provide strategies for promoting typical behaviors and be key to maximizing functional independence.

Speech therapists can teach patients how to sound more relaxed and help them master the natural give-and-take of conversational exchange. Psychotherapy can provide a safe place to work on anxiety, express emotions, and manage restricted interests or repeated behaviors. Group therapy or social training can be a venue for learning improved interactions.

Living independently can be very challenging, and patients with Asperger syndrome may need functional independence training to help with a variety of skills, from handling finances to organizing the home.

Improving quality of life includes determining the best learning environments from childhood into college years and beyond.^21–23 Socialization can be enhanced with additional social support at home or on campus, through family interactions and collaborative learning, and by teaching empathy.²⁴ Vocational training can be extremely useful.

DRUG THERAPY MAY HAVE A ROLE

Medications are not usually prescribed unless depression or anxiety is also present, but they may also help manage irritability, anger, stereotypical mannerisms, and disturbing movements. Fluoxetine (Prozac) helps reduce repetitive behaviors in adults with Asperger syndrome. Propranolol (Inderal), a well-known antihypertensive, is also used for performance anxiety and improves word fluency, understanding of verbal communication, and verbal problem-solving in patients with an autism spectrum disorder.²⁵

Giving oxytocin (Pitocin) intranasally in a spray formulation is currently being tested to enhance social skills. Patients with an autism spectrum disorder were more able to perceive emotions of others and to respond more appropriately.²⁶ Oxytocin has long been associated with bonding and is believed to enhance mothering skills. It is naturally present in both sexes, but levels are higher in women, which may in part explain the lower rate of autism spectrum disorders in females.²⁷

HEALTH CARE REQUIRES SPECIAL CONSIDERATIONS

Medical care for patients with Asperger syndrome is enhanced by understanding the patient’s experience. Adults, in particular, may have learned to suppress symptoms of Asperger syndrome to better function in society but still experience stress in situations in which others would not. Patients with Asperger syndrome may struggle with social interactions during medical examinations or procedures, and clinicians may find interaction with the patient challenging.

It is important for health care providers to be calm and patient and to understand that anxiety may prevent people with Asperger syndrome from making eye contact. The clinician should confirm that a patient is engaged but should avoid seeming pushy or invasive.

When anxious, patients may employ strange gestures that they find soothing, such as flapping the hands, rocking, or cracking the knuckles. It is usually easier to allow them to continue unless the activity hinders the examination or treatment.

Patients are likely to respond better to direct requests than to subtle questions: eg, “Open your mouth, please” instead of “Could you open your mouth?” Using clear, specific language and avoiding metaphors, irony, and nonverbal communication are best. It is important to explicitly ask for everything needed, as patients may not volunteer information and may have trouble articulating what they are thinking or feeling. While educating patients about their health needs, physicians may need to reiterate guidance several times or approach the same topic from different angles in order for the patient to accept a concern.

All actions, especially touching the patient, should be explained clearly beforehand. If possible, the doctor should demonstrate using visuals or on his or her own body if appropriate. For invasive procedures, anesthetizing the local area is recommended.

People with Asperger syndrome often rely heavily on a regular routine to maintain a sense of organization. By interrupting this routine, a doctor’s visit can induce anxiety. Waiting also increases anxiety, so scheduling patients with Asperger syndrome either first or last in the day may help.

Hypersensitivity poses challenges

Many people with Asperger syndrome have abnormal sensitivity to stimuli, with differences in pain sensation and hearing perhaps most prominent. Loud noises, such as beeping equipment, whirring fans, or buzzing lights may be distressful and should be reduced if possible. Patients may also be strongly affected by bright lights or scents such as perfumes.

Patients may also have an altered sense of taste, with consequences that go beyond simple “picky eating.” Patients should be asked about unusual eating patterns, diets, or food aversions. People with autism spectrum disorders often do not consume adequate vitamin C because of an aversion to fruits and vegetables. Vitamin deficiency may have originated in infancy but may not be identified or treated until adulthood.²⁸

The sense of touch may be intensified, causing patients to be extremely ticklish; they may actually prefer to be touched more firmly. When it is necessary to make physical contact with patients, it will make the process easier if the physician determines their comfort level and finds ways to help them endure the experience with the least amount of discomfort.

Some patients with impaired sensory expression may have a high tolerance for extreme temperatures and pain, leading to delay in seeking aid.²⁹ Patients may downgrade pain levels, masking the severity of an illness or injury.

Transition from pediatric to adult care

Pediatrics is often a warm environment in which children develop a trusting relationship with their care providers. The transition to adult care can be daunting for patients with Asperger syndrome and their families, and many postpone the change for as long as possible.

Although time-consuming, a collaborative effort between the pediatric and adult care teams can dramatically smooth the transition. It can help to have a familiar person from the pediatric team, such as a nurse, be present at the initial interaction with the new adult care team. Both teams should be familiar with the other’s clinical practices and be aware of the patient’s stressors and ways to ameliorate them.³⁰

THE SEARCH FOR A CAUSE CONTINUES

Numerous studies are attempting to understand the anatomic and physiologic causes of autism spectrum disorders, and to find effective treatments and improve the quality of life.

Prenatal factors implicated

Several recent studies have focused on environmental factors during pregnancy as risk factors for autism spectrum disorder. Selective serotonin reuptake inhibitors were found to increase the risk,³¹ but the severity of the mother’s depressive illness must be considered before counseling against using these drugs. Older maternal or paternal age was also found to increase the risk of an autism spectrum disorder.³² Recent research indicates that older fathers are in particular more likely to have children with disorders such as autism because of an increase in random mutations associated with advanced age.³³

Maternal illness during pregnancy is also associated. Preliminary studies found an increased risk of autism if the mother had had a prenatal viral infection.³⁴ A more recent study found that untreated fever during pregnancy rather than a specific viral infection is more strongly linked.³⁵

Maternal antibodies have been implicated as well. One review found that psoriasis is the only maternal autoimmune condition significantly associated with the development of an autism spectrum disorder.³⁶ Elevated levels of antibodies against the fetal brain have been found in mothers with autistic children.³⁷ One study found that autistic children and their siblings have elevated antibrain antibodies in distinct brain regions, including the caudate nucleus, putamen, prefrontal cortex, cerebellum, and cingulate gyrus (why the siblings are spared from having the disorder is unclear).³⁸ Some have questioned whether a child’s own immune system might even be involved.³⁹

Functional magnetic resonance imaging (fMRI) has been used to investigate impaired social interaction, specific deficits of facial perception and recognition, sensory processing, working memory, and “theory of mind.” Hypoactivation, hyperactivation, and decreased functional connectivity have been observed depending on the mental processes evaluated.⁴⁰

When undergoing facial perception tasks, subjects with autism spectrum disorders exhibit hypoactivation in the lateral aspect of the middle region of the fusiform gyrus, responsible for face identification. But they have significant activation of the limbic system, specifically the amygdala, during facial recognition. Hypoactivity in the fusiform gyrus is observed when trying to identify faces or read facial expressions.^41,42 This cluster of findings helps explain misinterpretations, misidentification, and heightened affect.

A hallmark characteristic of autism is the difficulty patients have in determining intentions and interpreting others’ behavior, thoughts, or emotions. Studies of people with autism spectrum disorders show that areas often responsible for “sensitivity to others” are hypoactive.⁴³ There is also diminished activation in the medial cingulate cortex, normally activated when these people are asked to think about themselves and who they are.⁴⁴

The resting state in the brains of people with autism spectrum disorders is abnormally activated.⁴⁵ They are often particularly good at attention to detail but challenged in integrating information needed for general executive functioning. Impaired sensory processing makes it difficult for them to simultaneously interpret multiple sources of sensory input.⁴⁶

Perhaps some of the most exciting fMRI news comes from infant studies. Radical and axial diffusivity and fractional anisotropy techniques demonstrate differences in the brains of infants 6 to 24 months old, before symptoms of autism spectrum disorders are observed. It is hoped that early intervention could come into play before the syndrome develops fully.⁴⁷

The synthesis of input of social and emotional cues is sometimes referred to in the literature as “theory of mind.” It is impaired in Asperger syndrome,⁴⁸ as manifested by a lack of empathy and by challenges in perceiving others’ thoughts and feelings. The basis of impairment may be related to abnormalities in the amygdala.⁴⁹ Normal awareness involves the integration of multiple neural networks in the anterior paracingulate cortex, the superior temporal sulci, and the temporal poles bilaterally, but different regions appear to be used in patients with Asperger syndrome.⁵⁰ A small series of five case studies using positron emission tomography indicated that the left prefrontal cortex was the primary location for theory of mind in Asperger syndrome.⁵¹

Epilepsy, gastrointestinal problems, and sleep disturbances are associated

About 25% of people with autism spectrum disorders have epilepsy vs 2% to 3% in the general population. Asperger syndrome is associated with a much lower but still elevated risk of 4% to 6%.^47,52

Gastrointestinal complaints, most often constipation or chronic diarrhea, are much more common in children with autism spectrum disorders than in the general population. Preliminary data showed that children with an autism spectrum disorder have a 42% rate of gastrointestinal problems vs 12% in unaffected siblings. There is also a correlation between the severity of gastrointestinal problems and severity of autistic symptoms.⁵³

Research is ongoing to determine the prevalence of insomnia or interrupted sleep in those with autism spectrum disorders.^54–56 Changes in sleep architecture can explain nighttime activity.

NONTRADITIONAL CONSIDERATIONS

Dietary treatment: Mixed findings

A popular hypothesis is that adherence to a gluten-free or casein-free diet can reduce symptoms of autism spectrum disorders. Preliminary reports identified several cases of children showing improvement.⁵⁷ However, this has not been replicated, and more studies refute benefits of these diets.⁵⁸

Essential nutritional needs should be met with any diet, whether it is designed to reduce symptoms or not. Patients with autism spectrum disorders may have strong food aversions, and dietary supplements of vitamins and minerals may be required.

Vaccines do not cause autism

Despite popular concern, recent research indicates that vaccines do not cause autism. Thimerosal, a mercury-based preservative used in childhood vaccines, was at one time implicated as a risk factor for autism spectrum disorders. The US Centers for Disease Control and Prevention (CDC) issued a precaution against using thimerosal-containing vaccines while testing was done to determine the effects on neuropsychological development.⁵⁹ The CDC study as well as newer studies did not demonstrate that exposure to mercury causes these neuropsychological concerns, but researchers have continued to study the subject.^60–62 The original study implicating thimerosal was disproven as scientifically unsound and fraught with conflict of interest and legal concerns. It has since been retracted, and its findings have been completely discredited.⁶³

Other areas of research

Current research is exploring the higher prevalence of autism spectrum disorders in particular families.^64–66 Autism and autism spectrum disorders may be caused by hundreds of simultaneous gene alterations or may develop as a result of reduced gene expression in two areas of the cerebral cortex where higher-order processing occurs, in the frontal and temporal lobes.⁶⁷

Although genetic theories of autism predominate, a 2011 project suggests that environment is also important. A study of twins found that genetics accounted for 40% or less of cases of autism spectrum disorder, with at least 55% of cases being attributable to environmental factors.⁶⁸

In 1944, Hans Asperger described a subset of children who exhibited “a lack of empathy, little ability to form friendships, one-sided conversation, intense absorption in a special interest, and clumsy movements.”¹

In recent years, Asperger syndrome has become increasingly recognized in the medical community and by the general public. It has been popularized in the media in John Elder Robison’s bestselling book, Look Me in the Eye; with the television character Sheldon Cooper in The Big Bang Theory; and in the 2009 film, Adam, a romantic comedy with the title character accurately portraying a young man with Asperger syndrome.

See related editorial

In this article, we discuss the causes and characteristics of Asperger syndrome, with special focus on adults: how it presents, how to treat it, and how to enhance the delivery of care.

PREVALENCE SEEMS TO BE INCREASING

One in 88 children is diagnosed with an autism spectrum disorder, and the rates of Asperger syndrome and other autism spectrum disorders appear to be increasing.² Whether this increase is the result of more thorough assessment and identification or of environmental changes is hotly debated.³ The rise began before the proposed changes to the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-V) to combine autism, Asperger syndrome, and pervasive developmental disorder not otherwise specified to simplify diagnosis.⁴ Asperger syndrome affects males three to four times more often than females.⁵ For most patients, the effects persist throughout life.

BEHAVIORAL IMPAIRMENTS CHARACTERIZE THE SYNDROME

Poor social skills are a hallmark

People with Asperger syndrome struggle with social interaction and face challenges in forming and maintaining relationships. They tend to have less eye contact (often the first indicator), smiling, animated speech, and physical communication such as hand gestures. They tend not to solicit another’s attention to something they themselves find interesting. They often lack social and emotional reciprocity and have difficulty understanding another person’s thoughts or feelings,⁶ and they have marked difficulty reading social cues. Some adults may appear rigid, selfish, or narrow-minded.

Sometimes behavior is in the normal range but is out of context for a particular situation.⁷ For example, a preprofessional student with Asperger syndrome might walk into a psychiatric evaluation to assess fitness for duty and take a seat cross-legged on the floor and have a snack. Poor grooming inappropriate for the occasion may also be observed, such as showing up for a formal photo with unkempt hair and in a stained shirt that is half tucked in.

Many adults with autism spectrum disorders are oblivious to their social reputation.⁸ They are often unaware that their behavior is out of place and only learn that it is not normal when they are told. Others recognize that they have trouble empathizing with or understanding the perspectives of others, but they are at a loss as to how to improve. The syndrome has a tremendous impact on broader aspects of life, such as employment, functional independence, relationships, and social networks.

Other odd behaviors are common

Repetitive behaviors. Many patients with Asperger syndrome have repetitive behaviors, which can manifest as repeating phrases or expressions, attempting to imitate others, and rocking. They tend to follow routines, do not enjoy spontaneity, and are more inflexible and uncomfortable when their planned regimen is altered.

Gait or balance issues may be observed on physical examination.⁹ Uncoordinated motion and clumsiness are common,¹⁰ and some patients may have a bouncy, stilted gait or may walk on their toes, although the latter is more common in children than adults. Many patients have illegible handwriting.¹¹

Fixations. Many Asperger patients have unusual and intense obsessions with subjects like numbers, dates, or aerodynamics of planes. Children with such fascinations are described as “little professors” or as having “geek syndrome.”¹² Certain obsessions often continue into adulthood, although one area of interest may fade and another may take over. Such “expertise” in adults may gain them respect, even though they may seem very odd in other ways.

Lack of boundaries. Patients with Asperger syndrome tend to have poor spatial awareness and to be unaware of physical boundaries, standing too close for others’ comfort or unusually far away. Lack of boundaries may extend beyond the physical, as patients may inappropriately help themselves to food or use an item belonging to another without invitation, being unaware that the behavior may be intrusive or inappropriate.

BEHAVIORAL ASSESSMENTS HELP MAKE DIAGNOSIS

Asperger syndrome is most often diagnosed in early childhood, although it may remain undiagnosed into adulthood. Coexisting depression, attention deficit hyperactivity disorder, or anxiety disorders are also often present.

Establishing the diagnosis is aided by information from family members and others who interact with the patient, from the observations of trained professionals, and from self-reported data. However, self-reported assessments are not always reliable, because the syndrome can affect insight.

The most common assessment tool for autism spectrum disorders is the Autism Diagnostic Interview-Revised (ADI-R),¹³ a battery of tests given in a structured interview to identify and quantify symptoms, determine where a patient falls on the autism spectrum,¹⁴ and point toward interventions. The ADI-R also organizes critical developmental history to evaluate if something else is present, such as prodromal schizophrenia. Although the ADI-R can be very useful in the diagnostic process, it is based on parental reporting, which is neither always available nor fully reliable.

A specific diagnostic tool for adults is the Adult Asperger Assessment.¹⁵ Patients are asked to complete two screening questionnaires that gauge cognitive function and gather information about thinking, processing, and behavior.

Table 1 lists the criteria for Asperger syndrome from the DSM Fourth Edition, Text Revision (DSM-IV-TR).¹⁶ Asperger syndrome differs from general autism in that it is not associated with language delay. In addition, patients with Asperger syndrome usually have average or above-average IQ scores.¹⁷ Still, determining whether a patient has Asperger syndrome or high-functioning autism is sometimes challenging.⁶

In DSM-V, Asperger syndrome will be subsumed under autism spectrum disorder

In 2013, the DSM-V will replace the DSMIV-TR and will combine autism, Asperger syndrome, and pervasive developmental disorder not otherwise classified into a single diagnosis: autism spectrum disorder. The new system uses two instead of the previous three clusters of core symptoms, centered on “social reciprocity and communication” in one arm and “restricted interests and repetitive behavior” in the other.¹⁸ There will be less emphasis on play and imagination than in the past. Some authors suggest adding sensory criteria, particularly reduced pain and increased hearing sensitivity.¹⁹

The proposed system is sensitive and specific for autism spectrum disorders, allows early diagnosis, and indicates degree of severity.²⁰ It is hoped that the new system, which accounts for the range and severity of symptoms, should help physicians refer patients to the correct level of treatment.

On the other hand, it may be difficult to think of the three disorders as a single diagnosis. Asperger syndrome manifests in distinct ways, and clear behavioral criteria for diagnosis can be invaluable in helping people with the syndrome. Also, the public may continue to refer to it as Asperger syndrome, and parents and patients may feel uncomfortable having it considered to be the same diagnosis as autism.

BEHAVIORAL THERAPY CAN HELP ACHIEVE INDEPENDENCE

Although there is no cure for Asperger syndrome, various interventions can dramatically improve quality of life and independence. The health care team may include a primary care physician, psychologist, psychiatrist, neurologist, and speech therapist.

Behavioral therapies can help patients with Asperger syndrome learn skills to reduce their symptoms. Occupational and physical therapy can improve dexterity, fluidity, and coordination. Desensitization training may help patients adapt to uncomfortable sights, sounds, or smells that may arise. This can be critical in a job situation. For example, while an average person exposed to a foul odor in public is likely to react tactfully, a person with Asperger syndrome may scream loudly, make inappropriate comments, or run from the room. Social training, especially targeted to the workplace, can provide strategies for promoting typical behaviors and be key to maximizing functional independence.

Speech therapists can teach patients how to sound more relaxed and help them master the natural give-and-take of conversational exchange. Psychotherapy can provide a safe place to work on anxiety, express emotions, and manage restricted interests or repeated behaviors. Group therapy or social training can be a venue for learning improved interactions.

Living independently can be very challenging, and patients with Asperger syndrome may need functional independence training to help with a variety of skills, from handling finances to organizing the home.

Improving quality of life includes determining the best learning environments from childhood into college years and beyond.^21–23 Socialization can be enhanced with additional social support at home or on campus, through family interactions and collaborative learning, and by teaching empathy.²⁴ Vocational training can be extremely useful.

DRUG THERAPY MAY HAVE A ROLE

Medications are not usually prescribed unless depression or anxiety is also present, but they may also help manage irritability, anger, stereotypical mannerisms, and disturbing movements. Fluoxetine (Prozac) helps reduce repetitive behaviors in adults with Asperger syndrome. Propranolol (Inderal), a well-known antihypertensive, is also used for performance anxiety and improves word fluency, understanding of verbal communication, and verbal problem-solving in patients with an autism spectrum disorder.²⁵

Giving oxytocin (Pitocin) intranasally in a spray formulation is currently being tested to enhance social skills. Patients with an autism spectrum disorder were more able to perceive emotions of others and to respond more appropriately.²⁶ Oxytocin has long been associated with bonding and is believed to enhance mothering skills. It is naturally present in both sexes, but levels are higher in women, which may in part explain the lower rate of autism spectrum disorders in females.²⁷

HEALTH CARE REQUIRES SPECIAL CONSIDERATIONS

Medical care for patients with Asperger syndrome is enhanced by understanding the patient’s experience. Adults, in particular, may have learned to suppress symptoms of Asperger syndrome to better function in society but still experience stress in situations in which others would not. Patients with Asperger syndrome may struggle with social interactions during medical examinations or procedures, and clinicians may find interaction with the patient challenging.

It is important for health care providers to be calm and patient and to understand that anxiety may prevent people with Asperger syndrome from making eye contact. The clinician should confirm that a patient is engaged but should avoid seeming pushy or invasive.

When anxious, patients may employ strange gestures that they find soothing, such as flapping the hands, rocking, or cracking the knuckles. It is usually easier to allow them to continue unless the activity hinders the examination or treatment.

Patients are likely to respond better to direct requests than to subtle questions: eg, “Open your mouth, please” instead of “Could you open your mouth?” Using clear, specific language and avoiding metaphors, irony, and nonverbal communication are best. It is important to explicitly ask for everything needed, as patients may not volunteer information and may have trouble articulating what they are thinking or feeling. While educating patients about their health needs, physicians may need to reiterate guidance several times or approach the same topic from different angles in order for the patient to accept a concern.

All actions, especially touching the patient, should be explained clearly beforehand. If possible, the doctor should demonstrate using visuals or on his or her own body if appropriate. For invasive procedures, anesthetizing the local area is recommended.

People with Asperger syndrome often rely heavily on a regular routine to maintain a sense of organization. By interrupting this routine, a doctor’s visit can induce anxiety. Waiting also increases anxiety, so scheduling patients with Asperger syndrome either first or last in the day may help.

Hypersensitivity poses challenges

Many people with Asperger syndrome have abnormal sensitivity to stimuli, with differences in pain sensation and hearing perhaps most prominent. Loud noises, such as beeping equipment, whirring fans, or buzzing lights may be distressful and should be reduced if possible. Patients may also be strongly affected by bright lights or scents such as perfumes.

Patients may also have an altered sense of taste, with consequences that go beyond simple “picky eating.” Patients should be asked about unusual eating patterns, diets, or food aversions. People with autism spectrum disorders often do not consume adequate vitamin C because of an aversion to fruits and vegetables. Vitamin deficiency may have originated in infancy but may not be identified or treated until adulthood.²⁸

The sense of touch may be intensified, causing patients to be extremely ticklish; they may actually prefer to be touched more firmly. When it is necessary to make physical contact with patients, it will make the process easier if the physician determines their comfort level and finds ways to help them endure the experience with the least amount of discomfort.

Some patients with impaired sensory expression may have a high tolerance for extreme temperatures and pain, leading to delay in seeking aid.²⁹ Patients may downgrade pain levels, masking the severity of an illness or injury.

Transition from pediatric to adult care

Pediatrics is often a warm environment in which children develop a trusting relationship with their care providers. The transition to adult care can be daunting for patients with Asperger syndrome and their families, and many postpone the change for as long as possible.

Although time-consuming, a collaborative effort between the pediatric and adult care teams can dramatically smooth the transition. It can help to have a familiar person from the pediatric team, such as a nurse, be present at the initial interaction with the new adult care team. Both teams should be familiar with the other’s clinical practices and be aware of the patient’s stressors and ways to ameliorate them.³⁰

THE SEARCH FOR A CAUSE CONTINUES

Numerous studies are attempting to understand the anatomic and physiologic causes of autism spectrum disorders, and to find effective treatments and improve the quality of life.

Prenatal factors implicated

Several recent studies have focused on environmental factors during pregnancy as risk factors for autism spectrum disorder. Selective serotonin reuptake inhibitors were found to increase the risk,³¹ but the severity of the mother’s depressive illness must be considered before counseling against using these drugs. Older maternal or paternal age was also found to increase the risk of an autism spectrum disorder.³² Recent research indicates that older fathers are in particular more likely to have children with disorders such as autism because of an increase in random mutations associated with advanced age.³³

Maternal illness during pregnancy is also associated. Preliminary studies found an increased risk of autism if the mother had had a prenatal viral infection.³⁴ A more recent study found that untreated fever during pregnancy rather than a specific viral infection is more strongly linked.³⁵

Maternal antibodies have been implicated as well. One review found that psoriasis is the only maternal autoimmune condition significantly associated with the development of an autism spectrum disorder.³⁶ Elevated levels of antibodies against the fetal brain have been found in mothers with autistic children.³⁷ One study found that autistic children and their siblings have elevated antibrain antibodies in distinct brain regions, including the caudate nucleus, putamen, prefrontal cortex, cerebellum, and cingulate gyrus (why the siblings are spared from having the disorder is unclear).³⁸ Some have questioned whether a child’s own immune system might even be involved.³⁹

Functional magnetic resonance imaging (fMRI) has been used to investigate impaired social interaction, specific deficits of facial perception and recognition, sensory processing, working memory, and “theory of mind.” Hypoactivation, hyperactivation, and decreased functional connectivity have been observed depending on the mental processes evaluated.⁴⁰

When undergoing facial perception tasks, subjects with autism spectrum disorders exhibit hypoactivation in the lateral aspect of the middle region of the fusiform gyrus, responsible for face identification. But they have significant activation of the limbic system, specifically the amygdala, during facial recognition. Hypoactivity in the fusiform gyrus is observed when trying to identify faces or read facial expressions.^41,42 This cluster of findings helps explain misinterpretations, misidentification, and heightened affect.

A hallmark characteristic of autism is the difficulty patients have in determining intentions and interpreting others’ behavior, thoughts, or emotions. Studies of people with autism spectrum disorders show that areas often responsible for “sensitivity to others” are hypoactive.⁴³ There is also diminished activation in the medial cingulate cortex, normally activated when these people are asked to think about themselves and who they are.⁴⁴

The resting state in the brains of people with autism spectrum disorders is abnormally activated.⁴⁵ They are often particularly good at attention to detail but challenged in integrating information needed for general executive functioning. Impaired sensory processing makes it difficult for them to simultaneously interpret multiple sources of sensory input.⁴⁶

Perhaps some of the most exciting fMRI news comes from infant studies. Radical and axial diffusivity and fractional anisotropy techniques demonstrate differences in the brains of infants 6 to 24 months old, before symptoms of autism spectrum disorders are observed. It is hoped that early intervention could come into play before the syndrome develops fully.⁴⁷

The synthesis of input of social and emotional cues is sometimes referred to in the literature as “theory of mind.” It is impaired in Asperger syndrome,⁴⁸ as manifested by a lack of empathy and by challenges in perceiving others’ thoughts and feelings. The basis of impairment may be related to abnormalities in the amygdala.⁴⁹ Normal awareness involves the integration of multiple neural networks in the anterior paracingulate cortex, the superior temporal sulci, and the temporal poles bilaterally, but different regions appear to be used in patients with Asperger syndrome.⁵⁰ A small series of five case studies using positron emission tomography indicated that the left prefrontal cortex was the primary location for theory of mind in Asperger syndrome.⁵¹

Epilepsy, gastrointestinal problems, and sleep disturbances are associated

About 25% of people with autism spectrum disorders have epilepsy vs 2% to 3% in the general population. Asperger syndrome is associated with a much lower but still elevated risk of 4% to 6%.^47,52

Gastrointestinal complaints, most often constipation or chronic diarrhea, are much more common in children with autism spectrum disorders than in the general population. Preliminary data showed that children with an autism spectrum disorder have a 42% rate of gastrointestinal problems vs 12% in unaffected siblings. There is also a correlation between the severity of gastrointestinal problems and severity of autistic symptoms.⁵³

Research is ongoing to determine the prevalence of insomnia or interrupted sleep in those with autism spectrum disorders.^54–56 Changes in sleep architecture can explain nighttime activity.

NONTRADITIONAL CONSIDERATIONS

Dietary treatment: Mixed findings

A popular hypothesis is that adherence to a gluten-free or casein-free diet can reduce symptoms of autism spectrum disorders. Preliminary reports identified several cases of children showing improvement.⁵⁷ However, this has not been replicated, and more studies refute benefits of these diets.⁵⁸

Essential nutritional needs should be met with any diet, whether it is designed to reduce symptoms or not. Patients with autism spectrum disorders may have strong food aversions, and dietary supplements of vitamins and minerals may be required.

Vaccines do not cause autism

Despite popular concern, recent research indicates that vaccines do not cause autism. Thimerosal, a mercury-based preservative used in childhood vaccines, was at one time implicated as a risk factor for autism spectrum disorders. The US Centers for Disease Control and Prevention (CDC) issued a precaution against using thimerosal-containing vaccines while testing was done to determine the effects on neuropsychological development.⁵⁹ The CDC study as well as newer studies did not demonstrate that exposure to mercury causes these neuropsychological concerns, but researchers have continued to study the subject.^60–62 The original study implicating thimerosal was disproven as scientifically unsound and fraught with conflict of interest and legal concerns. It has since been retracted, and its findings have been completely discredited.⁶³

Other areas of research

Current research is exploring the higher prevalence of autism spectrum disorders in particular families.^64–66 Autism and autism spectrum disorders may be caused by hundreds of simultaneous gene alterations or may develop as a result of reduced gene expression in two areas of the cerebral cortex where higher-order processing occurs, in the frontal and temporal lobes.⁶⁷

Although genetic theories of autism predominate, a 2011 project suggests that environment is also important. A study of twins found that genetics accounted for 40% or less of cases of autism spectrum disorder, with at least 55% of cases being attributable to environmental factors.⁶⁸

In 1944, Hans Asperger described a subset of children who exhibited “a lack of empathy, little ability to form friendships, one-sided conversation, intense absorption in a special interest, and clumsy movements.”¹

In recent years, Asperger syndrome has become increasingly recognized in the medical community and by the general public. It has been popularized in the media in John Elder Robison’s bestselling book, Look Me in the Eye; with the television character Sheldon Cooper in The Big Bang Theory; and in the 2009 film, Adam, a romantic comedy with the title character accurately portraying a young man with Asperger syndrome.

See related editorial

In this article, we discuss the causes and characteristics of Asperger syndrome, with special focus on adults: how it presents, how to treat it, and how to enhance the delivery of care.

PREVALENCE SEEMS TO BE INCREASING

One in 88 children is diagnosed with an autism spectrum disorder, and the rates of Asperger syndrome and other autism spectrum disorders appear to be increasing.² Whether this increase is the result of more thorough assessment and identification or of environmental changes is hotly debated.³ The rise began before the proposed changes to the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-V) to combine autism, Asperger syndrome, and pervasive developmental disorder not otherwise specified to simplify diagnosis.⁴ Asperger syndrome affects males three to four times more often than females.⁵ For most patients, the effects persist throughout life.

BEHAVIORAL IMPAIRMENTS CHARACTERIZE THE SYNDROME

Poor social skills are a hallmark

People with Asperger syndrome struggle with social interaction and face challenges in forming and maintaining relationships. They tend to have less eye contact (often the first indicator), smiling, animated speech, and physical communication such as hand gestures. They tend not to solicit another’s attention to something they themselves find interesting. They often lack social and emotional reciprocity and have difficulty understanding another person’s thoughts or feelings,⁶ and they have marked difficulty reading social cues. Some adults may appear rigid, selfish, or narrow-minded.

Sometimes behavior is in the normal range but is out of context for a particular situation.⁷ For example, a preprofessional student with Asperger syndrome might walk into a psychiatric evaluation to assess fitness for duty and take a seat cross-legged on the floor and have a snack. Poor grooming inappropriate for the occasion may also be observed, such as showing up for a formal photo with unkempt hair and in a stained shirt that is half tucked in.

Many adults with autism spectrum disorders are oblivious to their social reputation.⁸ They are often unaware that their behavior is out of place and only learn that it is not normal when they are told. Others recognize that they have trouble empathizing with or understanding the perspectives of others, but they are at a loss as to how to improve. The syndrome has a tremendous impact on broader aspects of life, such as employment, functional independence, relationships, and social networks.

Other odd behaviors are common

Repetitive behaviors. Many patients with Asperger syndrome have repetitive behaviors, which can manifest as repeating phrases or expressions, attempting to imitate others, and rocking. They tend to follow routines, do not enjoy spontaneity, and are more inflexible and uncomfortable when their planned regimen is altered.

Gait or balance issues may be observed on physical examination.⁹ Uncoordinated motion and clumsiness are common,¹⁰ and some patients may have a bouncy, stilted gait or may walk on their toes, although the latter is more common in children than adults. Many patients have illegible handwriting.¹¹

Fixations. Many Asperger patients have unusual and intense obsessions with subjects like numbers, dates, or aerodynamics of planes. Children with such fascinations are described as “little professors” or as having “geek syndrome.”¹² Certain obsessions often continue into adulthood, although one area of interest may fade and another may take over. Such “expertise” in adults may gain them respect, even though they may seem very odd in other ways.

Lack of boundaries. Patients with Asperger syndrome tend to have poor spatial awareness and to be unaware of physical boundaries, standing too close for others’ comfort or unusually far away. Lack of boundaries may extend beyond the physical, as patients may inappropriately help themselves to food or use an item belonging to another without invitation, being unaware that the behavior may be intrusive or inappropriate.

BEHAVIORAL ASSESSMENTS HELP MAKE DIAGNOSIS

Asperger syndrome is most often diagnosed in early childhood, although it may remain undiagnosed into adulthood. Coexisting depression, attention deficit hyperactivity disorder, or anxiety disorders are also often present.

Establishing the diagnosis is aided by information from family members and others who interact with the patient, from the observations of trained professionals, and from self-reported data. However, self-reported assessments are not always reliable, because the syndrome can affect insight.

The most common assessment tool for autism spectrum disorders is the Autism Diagnostic Interview-Revised (ADI-R),¹³ a battery of tests given in a structured interview to identify and quantify symptoms, determine where a patient falls on the autism spectrum,¹⁴ and point toward interventions. The ADI-R also organizes critical developmental history to evaluate if something else is present, such as prodromal schizophrenia. Although the ADI-R can be very useful in the diagnostic process, it is based on parental reporting, which is neither always available nor fully reliable.

A specific diagnostic tool for adults is the Adult Asperger Assessment.¹⁵ Patients are asked to complete two screening questionnaires that gauge cognitive function and gather information about thinking, processing, and behavior.

Table 1 lists the criteria for Asperger syndrome from the DSM Fourth Edition, Text Revision (DSM-IV-TR).¹⁶ Asperger syndrome differs from general autism in that it is not associated with language delay. In addition, patients with Asperger syndrome usually have average or above-average IQ scores.¹⁷ Still, determining whether a patient has Asperger syndrome or high-functioning autism is sometimes challenging.⁶

In DSM-V, Asperger syndrome will be subsumed under autism spectrum disorder

In 2013, the DSM-V will replace the DSMIV-TR and will combine autism, Asperger syndrome, and pervasive developmental disorder not otherwise classified into a single diagnosis: autism spectrum disorder. The new system uses two instead of the previous three clusters of core symptoms, centered on “social reciprocity and communication” in one arm and “restricted interests and repetitive behavior” in the other.¹⁸ There will be less emphasis on play and imagination than in the past. Some authors suggest adding sensory criteria, particularly reduced pain and increased hearing sensitivity.¹⁹

The proposed system is sensitive and specific for autism spectrum disorders, allows early diagnosis, and indicates degree of severity.²⁰ It is hoped that the new system, which accounts for the range and severity of symptoms, should help physicians refer patients to the correct level of treatment.

On the other hand, it may be difficult to think of the three disorders as a single diagnosis. Asperger syndrome manifests in distinct ways, and clear behavioral criteria for diagnosis can be invaluable in helping people with the syndrome. Also, the public may continue to refer to it as Asperger syndrome, and parents and patients may feel uncomfortable having it considered to be the same diagnosis as autism.

BEHAVIORAL THERAPY CAN HELP ACHIEVE INDEPENDENCE

Although there is no cure for Asperger syndrome, various interventions can dramatically improve quality of life and independence. The health care team may include a primary care physician, psychologist, psychiatrist, neurologist, and speech therapist.

Behavioral therapies can help patients with Asperger syndrome learn skills to reduce their symptoms. Occupational and physical therapy can improve dexterity, fluidity, and coordination. Desensitization training may help patients adapt to uncomfortable sights, sounds, or smells that may arise. This can be critical in a job situation. For example, while an average person exposed to a foul odor in public is likely to react tactfully, a person with Asperger syndrome may scream loudly, make inappropriate comments, or run from the room. Social training, especially targeted to the workplace, can provide strategies for promoting typical behaviors and be key to maximizing functional independence.

Speech therapists can teach patients how to sound more relaxed and help them master the natural give-and-take of conversational exchange. Psychotherapy can provide a safe place to work on anxiety, express emotions, and manage restricted interests or repeated behaviors. Group therapy or social training can be a venue for learning improved interactions.

Living independently can be very challenging, and patients with Asperger syndrome may need functional independence training to help with a variety of skills, from handling finances to organizing the home.

Improving quality of life includes determining the best learning environments from childhood into college years and beyond.^21–23 Socialization can be enhanced with additional social support at home or on campus, through family interactions and collaborative learning, and by teaching empathy.²⁴ Vocational training can be extremely useful.

DRUG THERAPY MAY HAVE A ROLE

Medications are not usually prescribed unless depression or anxiety is also present, but they may also help manage irritability, anger, stereotypical mannerisms, and disturbing movements. Fluoxetine (Prozac) helps reduce repetitive behaviors in adults with Asperger syndrome. Propranolol (Inderal), a well-known antihypertensive, is also used for performance anxiety and improves word fluency, understanding of verbal communication, and verbal problem-solving in patients with an autism spectrum disorder.²⁵

Giving oxytocin (Pitocin) intranasally in a spray formulation is currently being tested to enhance social skills. Patients with an autism spectrum disorder were more able to perceive emotions of others and to respond more appropriately.²⁶ Oxytocin has long been associated with bonding and is believed to enhance mothering skills. It is naturally present in both sexes, but levels are higher in women, which may in part explain the lower rate of autism spectrum disorders in females.²⁷

HEALTH CARE REQUIRES SPECIAL CONSIDERATIONS

Medical care for patients with Asperger syndrome is enhanced by understanding the patient’s experience. Adults, in particular, may have learned to suppress symptoms of Asperger syndrome to better function in society but still experience stress in situations in which others would not. Patients with Asperger syndrome may struggle with social interactions during medical examinations or procedures, and clinicians may find interaction with the patient challenging.

It is important for health care providers to be calm and patient and to understand that anxiety may prevent people with Asperger syndrome from making eye contact. The clinician should confirm that a patient is engaged but should avoid seeming pushy or invasive.

When anxious, patients may employ strange gestures that they find soothing, such as flapping the hands, rocking, or cracking the knuckles. It is usually easier to allow them to continue unless the activity hinders the examination or treatment.

Patients are likely to respond better to direct requests than to subtle questions: eg, “Open your mouth, please” instead of “Could you open your mouth?” Using clear, specific language and avoiding metaphors, irony, and nonverbal communication are best. It is important to explicitly ask for everything needed, as patients may not volunteer information and may have trouble articulating what they are thinking or feeling. While educating patients about their health needs, physicians may need to reiterate guidance several times or approach the same topic from different angles in order for the patient to accept a concern.

All actions, especially touching the patient, should be explained clearly beforehand. If possible, the doctor should demonstrate using visuals or on his or her own body if appropriate. For invasive procedures, anesthetizing the local area is recommended.

People with Asperger syndrome often rely heavily on a regular routine to maintain a sense of organization. By interrupting this routine, a doctor’s visit can induce anxiety. Waiting also increases anxiety, so scheduling patients with Asperger syndrome either first or last in the day may help.

Hypersensitivity poses challenges

Many people with Asperger syndrome have abnormal sensitivity to stimuli, with differences in pain sensation and hearing perhaps most prominent. Loud noises, such as beeping equipment, whirring fans, or buzzing lights may be distressful and should be reduced if possible. Patients may also be strongly affected by bright lights or scents such as perfumes.

Patients may also have an altered sense of taste, with consequences that go beyond simple “picky eating.” Patients should be asked about unusual eating patterns, diets, or food aversions. People with autism spectrum disorders often do not consume adequate vitamin C because of an aversion to fruits and vegetables. Vitamin deficiency may have originated in infancy but may not be identified or treated until adulthood.²⁸

The sense of touch may be intensified, causing patients to be extremely ticklish; they may actually prefer to be touched more firmly. When it is necessary to make physical contact with patients, it will make the process easier if the physician determines their comfort level and finds ways to help them endure the experience with the least amount of discomfort.

Some patients with impaired sensory expression may have a high tolerance for extreme temperatures and pain, leading to delay in seeking aid.²⁹ Patients may downgrade pain levels, masking the severity of an illness or injury.

Transition from pediatric to adult care

Pediatrics is often a warm environment in which children develop a trusting relationship with their care providers. The transition to adult care can be daunting for patients with Asperger syndrome and their families, and many postpone the change for as long as possible.

Although time-consuming, a collaborative effort between the pediatric and adult care teams can dramatically smooth the transition. It can help to have a familiar person from the pediatric team, such as a nurse, be present at the initial interaction with the new adult care team. Both teams should be familiar with the other’s clinical practices and be aware of the patient’s stressors and ways to ameliorate them.³⁰

THE SEARCH FOR A CAUSE CONTINUES

Numerous studies are attempting to understand the anatomic and physiologic causes of autism spectrum disorders, and to find effective treatments and improve the quality of life.

Prenatal factors implicated

Several recent studies have focused on environmental factors during pregnancy as risk factors for autism spectrum disorder. Selective serotonin reuptake inhibitors were found to increase the risk,³¹ but the severity of the mother’s depressive illness must be considered before counseling against using these drugs. Older maternal or paternal age was also found to increase the risk of an autism spectrum disorder.³² Recent research indicates that older fathers are in particular more likely to have children with disorders such as autism because of an increase in random mutations associated with advanced age.³³

Maternal illness during pregnancy is also associated. Preliminary studies found an increased risk of autism if the mother had had a prenatal viral infection.³⁴ A more recent study found that untreated fever during pregnancy rather than a specific viral infection is more strongly linked.³⁵

Maternal antibodies have been implicated as well. One review found that psoriasis is the only maternal autoimmune condition significantly associated with the development of an autism spectrum disorder.³⁶ Elevated levels of antibodies against the fetal brain have been found in mothers with autistic children.³⁷ One study found that autistic children and their siblings have elevated antibrain antibodies in distinct brain regions, including the caudate nucleus, putamen, prefrontal cortex, cerebellum, and cingulate gyrus (why the siblings are spared from having the disorder is unclear).³⁸ Some have questioned whether a child’s own immune system might even be involved.³⁹

Functional magnetic resonance imaging (fMRI) has been used to investigate impaired social interaction, specific deficits of facial perception and recognition, sensory processing, working memory, and “theory of mind.” Hypoactivation, hyperactivation, and decreased functional connectivity have been observed depending on the mental processes evaluated.⁴⁰

When undergoing facial perception tasks, subjects with autism spectrum disorders exhibit hypoactivation in the lateral aspect of the middle region of the fusiform gyrus, responsible for face identification. But they have significant activation of the limbic system, specifically the amygdala, during facial recognition. Hypoactivity in the fusiform gyrus is observed when trying to identify faces or read facial expressions.^41,42 This cluster of findings helps explain misinterpretations, misidentification, and heightened affect.

A hallmark characteristic of autism is the difficulty patients have in determining intentions and interpreting others’ behavior, thoughts, or emotions. Studies of people with autism spectrum disorders show that areas often responsible for “sensitivity to others” are hypoactive.⁴³ There is also diminished activation in the medial cingulate cortex, normally activated when these people are asked to think about themselves and who they are.⁴⁴

The resting state in the brains of people with autism spectrum disorders is abnormally activated.⁴⁵ They are often particularly good at attention to detail but challenged in integrating information needed for general executive functioning. Impaired sensory processing makes it difficult for them to simultaneously interpret multiple sources of sensory input.⁴⁶

Perhaps some of the most exciting fMRI news comes from infant studies. Radical and axial diffusivity and fractional anisotropy techniques demonstrate differences in the brains of infants 6 to 24 months old, before symptoms of autism spectrum disorders are observed. It is hoped that early intervention could come into play before the syndrome develops fully.⁴⁷

The synthesis of input of social and emotional cues is sometimes referred to in the literature as “theory of mind.” It is impaired in Asperger syndrome,⁴⁸ as manifested by a lack of empathy and by challenges in perceiving others’ thoughts and feelings. The basis of impairment may be related to abnormalities in the amygdala.⁴⁹ Normal awareness involves the integration of multiple neural networks in the anterior paracingulate cortex, the superior temporal sulci, and the temporal poles bilaterally, but different regions appear to be used in patients with Asperger syndrome.⁵⁰ A small series of five case studies using positron emission tomography indicated that the left prefrontal cortex was the primary location for theory of mind in Asperger syndrome.⁵¹

Epilepsy, gastrointestinal problems, and sleep disturbances are associated

About 25% of people with autism spectrum disorders have epilepsy vs 2% to 3% in the general population. Asperger syndrome is associated with a much lower but still elevated risk of 4% to 6%.^47,52

Gastrointestinal complaints, most often constipation or chronic diarrhea, are much more common in children with autism spectrum disorders than in the general population. Preliminary data showed that children with an autism spectrum disorder have a 42% rate of gastrointestinal problems vs 12% in unaffected siblings. There is also a correlation between the severity of gastrointestinal problems and severity of autistic symptoms.⁵³

Research is ongoing to determine the prevalence of insomnia or interrupted sleep in those with autism spectrum disorders.^54–56 Changes in sleep architecture can explain nighttime activity.

NONTRADITIONAL CONSIDERATIONS

Dietary treatment: Mixed findings

A popular hypothesis is that adherence to a gluten-free or casein-free diet can reduce symptoms of autism spectrum disorders. Preliminary reports identified several cases of children showing improvement.⁵⁷ However, this has not been replicated, and more studies refute benefits of these diets.⁵⁸

Essential nutritional needs should be met with any diet, whether it is designed to reduce symptoms or not. Patients with autism spectrum disorders may have strong food aversions, and dietary supplements of vitamins and minerals may be required.

Vaccines do not cause autism

Despite popular concern, recent research indicates that vaccines do not cause autism. Thimerosal, a mercury-based preservative used in childhood vaccines, was at one time implicated as a risk factor for autism spectrum disorders. The US Centers for Disease Control and Prevention (CDC) issued a precaution against using thimerosal-containing vaccines while testing was done to determine the effects on neuropsychological development.⁵⁹ The CDC study as well as newer studies did not demonstrate that exposure to mercury causes these neuropsychological concerns, but researchers have continued to study the subject.^60–62 The original study implicating thimerosal was disproven as scientifically unsound and fraught with conflict of interest and legal concerns. It has since been retracted, and its findings have been completely discredited.⁶³

Other areas of research

Current research is exploring the higher prevalence of autism spectrum disorders in particular families.^64–66 Autism and autism spectrum disorders may be caused by hundreds of simultaneous gene alterations or may develop as a result of reduced gene expression in two areas of the cerebral cortex where higher-order processing occurs, in the frontal and temporal lobes.⁶⁷

Although genetic theories of autism predominate, a 2011 project suggests that environment is also important. A study of twins found that genetics accounted for 40% or less of cases of autism spectrum disorder, with at least 55% of cases being attributable to environmental factors.⁶⁸