The Journal of Family Practice

Some adults who have an intellectual or other developmental disability (IDD) require extensive subspecialty care; many, however, depend primarily on their family physician for the bulk of their health care. With that reliance in mind, this article provides (1) an overview of important services that family physicians can provide for their adult patients with IDD and (2) pragmatic clinical suggestions for tailoring that care. Note: We highlight only some high-impact areas of clinical focus; refer to the 2018 Canadian consensus guidelines for a comprehensive approach to optimizing primary care for this population.¹

CASE

Laura S, a 24-year-old woman with Down syndrome, is visiting your clinic with her mother to establish care. Ms. S has several medical comorbidities, including type 2 diabetes, hyperlipidemia, repaired congenital heart disease, schizoaffective disorder, and hypothyroidism. She is under the care of multiple specialists, including a cardiologist and an endocrinologist. Her medications include the atypical antipsychotic risperidone, which was prescribed for her through the services of a community mental health center.

Ms. S is due for multiple preventive health screenings. She indicates that she feels nervous today talking about these screenings with a new physician.

First step in care: Proficiency in the lexicon of IDD

Three core concepts of IDD are impairment, disability, and handicap. According to the World Health Organization²:

• impairment “is any loss or abnormality of psychological, physiological, or anatomical structure or function.”
• disability “is any restriction or lack (resulting from an impairment) of ability to perform an activity in the manner or within the range considered normal for a human being.”
• handicap therefore “represents socialization of an impairment or disability, and as such it reflects the consequences for the individual—cultural, social, economic, and environmental—that stem from the presence of impairment and disability.”

Essential transition: Pediatric to adult health care

Health care transition (HCT) is the planned process of transferring care from a pediatric to an adult-based health care setting,³ comprising 3 phases:

• preparation
• transfer from pediatric to adult care
• integration into adult-based care.

Two critical components of a smooth HCT include initiating the transition early in adolescence and providing transition-support resources, which are often lacking, even in large, integrated health systems.⁴ Got Transition, created by the National Alliance to Advance Adolescent Health, outlines core elements of an organized HCT process (www.gottransition.org) specific to young adults with IDD, including young adults with autism spectrum disorder.^5,6 

Even young people who are served by a family physician and who intend to remain in that family practice as they age into adulthood require HCT services that include⁶:

• assessment of readiness to transition to adult care
• update of the medical history
• assessment and promotion of self-care skills
• consent discussions and optimized participation in decision-making
• transition of specialty care from pediatric to adult specialists.

Continue to: For an ideal HCT...

For an ideal health care transition, full engagement of the patient, the medical home, and the patient’s family (including the primary caregiver or guardian) is critical.

For an ideal HCT, full engagement of the patient, the medical home (physicians, nursing staff, and care coordinators), and the patient’s family (including the primary caregiver or guardian) is critical. In addition to preventive care visits and management of chronic disease, additional domains that require explicit attention in transitioning young people with IDD include health insurance, transportation, employment, and postsecondary education.

Young people who have special health care needs and receive high-quality HCT demonstrate improvements in adherence to care, disease-specific measures, quality of life, self-care skills, satisfaction with care, and health care utilization.⁷TABLE 1³ lists resources identified by Berens and colleagues that are helpful in facilitating the transition.

Teach and practice disability etiquette

Societal prejudice harms people with IDD—leading to self-deprecation, alienation from the larger community, and isolation from others with IDD.⁸ To promote acceptance and inclusivity in residential communities, the workplace, recreational venues, and clinical settings, disability etiquette should be utilized—a set of guidelines on how to interact with patients with IDD. These include speaking to the patient directly, using clear language in an adult voice, and avoiding stereotypes about people with disabilities.⁹ The entire health care team, including all front-facing staff (receptionists and care and financial coordinators) and clinical staff (physicians, nurses, medical assistants), need to be educated in, and practice, disability etiquette.

Preparing for in-person visits. Pre-­visit preparation, ideally by means of dialogue between health care staff and the patient or caregiver (or both), typically by telephone and in advance of the scheduled visit, is often critical for a successful first face-to-face encounter. (See “Pre-visit telephone questionnaire and script for a new adult patient with IDD,” page 287, which we developed for use in our office practice.) Outcomes of the pre-visit preparation should include identifying:

• words or actions that can trigger anxiety or panic
• de-escalation techniques, such as specific calming words and actions
• strategies for optimal communication, physical access, and physical examination.

Initial appointments should focus on building trust and rapport with the health care team and desensitizing the patient to the clinical environment.¹⁰ Examination techniques used with pediatric patients can be applied to this population: for example, demonstrating an examination maneuver first on the parent or caregiver; beginning the examination with the least invasive or anxiety-­provoking components; and stating what you plan to do next—before you do it.

Continue to: Systematic health checks provide great value

A health check is a systematic and comprehensive health assessment that is provided annually to adults with IDD, and includes:

• specific review of signs and symptoms of health conditions that often co-­occur in adults with IDD (TABLE 2Calibri¹¹)
• screening for changes in adaptive functioning and secondary disability
• lifestyle counseling
• medication review and counseling
• immunization update
• discussion of caregiver concerns.

Successful implementation of preventive health screening tests for a patient with IDD often requires ingenuity and creativity to allay fears and anxieties.

Regarding the last point: Many caregivers are the aging parents of the adult patient with IDD—people who have their own emerging health and support needs. You should initiate conversations about advanced planning for the needs of patients, which often involves engaging siblings and other family members to assume a greater role in caregiving.¹²

Benefits of the health check. A systematic review of 38 studies, comprising more than 5000 patients with IDD, found that health checks increased the detection of serious conditions, improved screening for sensory impairments, and increased the immunization rate.¹³ Although many patients with IDD generally understand the need for a periodic health examination, you can enhance their experience by better explaining the rationale for the health check; scheduling sufficient time for the appointment, based on the individual clinical situation; and discussing the value of laboratory testing and referrals to specialists.¹⁴

Tailoring preventive care

Many of the preventive services recommendations typically utilized by family physicians, such as guidelines from the US Preventive Services Task Force, have been developed for the general population at average risk of conditions of interest.¹⁵ Adults with IDD, depending on the cause of their developmental disability and their behavioral risk profile, might be at significantly higher (or lower) risk of cancer, heart disease, or other conditions than the general population. To address these differences, preventive care guidelines tailored to patients with certain developmental disabilities have been created, including guidelines specific to adults with Down syndrome, fragile X syndrome, Prader-Willi syndrome, Smith-Magenis syndrome, and 22q11.2 deletion (DiGeorge) syndrome.¹⁶

Clarifying the molecular genetic etiology of many developmental disabilities has led to more precise understandings about physical and behavioral health issues associated with specific developmental disabilities. For that reason, patients without a known cause for their IDD might benefit from referral to a geneticist—even in early or middle adulthood. Variables generally associated with a higher likelihood of an abnormal genetic test result include¹⁷:

• a family history of developmental disability
• a congenital malformation or dysmorphic features
• a dual diagnosis of developmental disability and co-occurring mental illness
• hypotonia
• severe or profound IDD.

Continue to: Successful implementation of preventive health screening tests...

Successful implementation of preventive health screening tests often requires ingenuity and the collective creativity of the patient, family members, staff, and family physician to allay fears and anxieties. Examples: Women who have been advised to undergo screening mammography might feel less anxious by undergoing tandem screening with their sister or mother, and colorectal cancer screening might be more easily accomplished using a fecal DNA test rather than by colonoscopy. Procedural desensitization strategies and preventive care instructional materials targeting people with IDD are posted on YouTube (for example, the “DD CARES Best Practices” series [see www.youtube.com/watch?v=EPJy4zvg4io]) and other websites.

Management of chronic disease

Evidence of health disparities in patients with IDD includes suboptimal management of chronic diseases, such as diabetes¹⁸ and hypertension,¹⁹ despite contact with a primary care physician. Nonadherence to a medication regimen might be more common in patients who live with their family or in a residential setting where there is a lower degree of supervision—that is, compared to a residence that maintains 24-hour staffing with daily nursing care and supervision. For a patient who is not so closely supervised, reviewing the medication refill history with the pharmacy, or using the so-called brown-bag technique of counting pill bottles brought to appointments, can ensure medication adherence.

CASE

As you interview Ms. S, you note that she is shy, avoids eye contact, and appears generally anxious. You calm her by noticing and complimenting her jewelry and fingernail polish. Ms. S smiles and talks about her favorite polish colors.

Evaluation of suspected mental and behavioral health issues begins with assessment for medical conditions that might be causing pain and distress or stereotypies.

Her mother reports that, when Ms. S is stressed, she talks to herself alone in her bedroom. However, you do not observe evidence of schizoaffective disorder, and begin to wonder whether she needs to be taking risperidone.

Essentials of mental health care

It is estimated that one-third of adults with IDD have significant mental and behavioral health care needs.²⁰ Patients with IDD suffer the same psychiatric disorders as the general population; some also engage in problematic behaviors, such as self-injurious actions, physical or verbal aggression (or both), property destruction, and resistance to caregiving assistance.

Continue to: Mental and behavioral health problems...

Mental and behavioral health problems can have a profound impact on the quality of life of patients with IDD, their peers, and their family and other caregivers. If untreated, these problems can lead to premature institutionalization, loss of employment or desired program participation, fractured social relationships, and caregiver withdrawal and burnout.

Initial evaluation of suspected mental and behavioral health problems begins with careful assessment for medical conditions that might be causing pain and distress, stereotypies, and other problematic behaviors. Common sources of pain and discomfort include dental and other oral disease, dysphagia, gastroesophageal reflux disease, gastritis, constipation, allergic disease, headache, musculoskeletal pathology, lower urinary tract disease, and gynecologic disorders.¹¹ Identification and optimal treatment of medical conditions might not eliminate problematic behaviors but often decrease their frequency and intensity.

Psychoactive medications are prescribed for many patients with IDD. Many have behavioral adverse effects, such as akathisia, aggression, and disinhibition—leading to a prescribing cascade of psychoactive medication polypharmacy and escalating dosages.²¹ Antipsychotic medications are often initiated without a careful diagnosis, explicit outcome targets, or adequate clinical monitoring for effectiveness; in addition, they often lead to insulin resistance, metabolic syndrome, and massive weight gain.²¹ Even a family physician who is not the prescriber can perform an important advocacy role by critically reviewing psychoactive medications, documenting adverse effects, insisting on a clear therapeutic target, and calling for discontinuation of medications that appear to be ineffective.

Evaluation of mental and behavioral health problems requires a developmental perspective to interpret specific, observable behaviors with a proper clinical lens. For example, many patients with IDD engage in self-talk (soliloquizing) as a means of processing the world around them. This practice might escalate during a time of physical or psychological stress, and the unwary clinician might misinterpret this behavior as psychotic, leading to inappropriate prescribing of antipsychotic medication. Other psychotoform behaviors that, superficially, mimic but are typically not truly psychotic, include talk with or about imaginary friends and repetitive retelling of sometimes elaborate or grandiose tales or assertions. The failure of clinicians to recognize developmentally determined expressions of distress often leads to a misdiagnosis of schizophrenia or other psychotic illness and, consequently, inappropriate psychopharmacotherapy. 

Family physicians, familiar with the use of psychiatric scales for diagnosis and treatment monitoring, should use similar scales that have been developed specifically for patients with IDD (TABLE 3¹¹). In addition, a psychiatric diagnosis manual, the Diagnostic Manual—Intellectual Disability 2, specific to people with IDD (and analogous to the Diagnostic and Statistical Manual of Mental Disorders, 5th Edition) provides modification of diagnostic criteria to account for patients who have difficulty articulating their internal emotional state and inner thoughts.²²

Continue to: Problematic behaviors

Problematic behaviors that are not features of a bona fide psychiatric disorder are often best understood through functional behavioral analysis, which examines antecedents and consequences of problematic behaviors and identifies their predictable outcomes, such as gaining attention, avoiding a task, or securing a desired item. Rather than being given a prescription for psychoactive medication, many adult patients with IDD and problematic behaviors might be best served by having you order consultation with a certified behavior analyst. The analyst will conduct an evaluation and, along with family or residential staff and the patient, craft a behavioral support plan to address core drivers of the undesired behavior. Behavioral support plans might be enriched by multidisciplinary input from a speech and language pathologist, habilitation professionals, occupational and physical therapists, a neuropsychologist, and others.²³

Antipsychotic medications are often initiated without a careful diagnosis. In addition, they often lead to insulin resistance, metabolic syndrome, and massive weight gain.

Resources to help you address the physical, mental, and behavioral health problems of these patients are available online through Vanderbilt Kennedy Center’s “Toolkit for primary care providers” (https://iddtoolkit.vkcsites.org).

CASE

During your examination, you review Ms. S’s vital signs, including body mass index (BMI). You calculate that she is morbidly obese—BMI, 37—in the setting of a known comorbidity, diabetes.

Ms. S tells you that she is interested in having a healthy lifestyle, but feels frustrated because she does not know how to make the necessary changes. You discuss with her how some medications, including risperidone, can promote weight gain, and that it is important for her mental health provider to carefully reassess whether she needs to continue the drug.

Weight management in a patient population that tends to be sedentary

Patients with IDD are more likely to live a sedentary lifestyle. Compared to adults who do not have IDD, adults with IDD—especially women and patients with Down syndrome—are reported to have a higher prevalence of obesity.²⁴

Continue to: As in the general population...

Similarly, undesired weight loss demands careful evaluation and management because such loss can reflect a medically significant condition, such as gastroesophageal reflux, constipation, dysphagia, neglect, and cancer.²⁷

Boosting the amount and effectiveness of physical activity

Young people with IDD participate in physical activity less often than their neurotypical peers; as a result, they tend to be less fit and have a higher prevalence of obesity.²⁸ Based on a meta-analysis, interventions that focus on sport and movement skills training, such as soccer, basketball, and ball-throwing programs, might be more effective than general physical activity programs.²⁸ In addition to year-round sports training and athletic competitions, Special Olympics conducts vital health screenings of athletes and supports community-based initiatives that address bias against patients with IDD, promote inclusion, and foster social relationships (www.specialolympics.org/our-work/inclusive-health?locale=en).

Success in weight management involves multidisciplinary treatment, including nutritional support, physical activity, behavioral changes, and close follow-up.

Emphasize regular activity. In adulthood, fewer than 10% of patients with IDD exercise regularly.²¹ According to the second edition of Physical Activity Guidelines for Americans,²⁹ “all adults, with or without a disability, should get at least 150 minutes of aerobic physical activity a week. Activities can be broken down into smaller amounts, such as about 25 minutes a day every day.”³⁰ Supplementation with muscle-strengthening activities (eg, yoga, weight training, and resistance-band training) provides further health benefit, such as improvement in posture and prevention of future injury.³¹ An ideal exercise program proposed by Tyler and Baker is based on a daily, “3-2-1” schedule (ie, of every hour of activity, 30 minutes should be of aerobic exercise; 20 minutes, of strength building; and 10 minutes, of flexibility).¹¹ By participating in any type of physical activity, there is potential for considerable health benefit in reducing psychosocial stressors, improving mental health, counteracting metabolic syndromes, and, ultimately, reducing morbidity and mortality related to physical inactivity.

CASE

With permission from Ms. S, you send your progress notes by fax to her mental health provider at the community mental health center and request a call to discuss her case—in particular, to examine potential alternatives to risperidone. With Ms. S’s input, you also co-create an exercise prescription that includes a daily 20-minute walking program with her mother.

At the follow-up visit that is scheduled in 3 months, you anticipate adding a resistance component and balance activity to the exercise prescription to enrich Ms. S’s physical activity regimen.

CORRESPONDENCE
Carl V. Tyler Jr., MD, 14601 Detroit Avenue, Lakewood, OH, 44107; [email protected]

Some adults who have an intellectual or other developmental disability (IDD) require extensive subspecialty care; many, however, depend primarily on their family physician for the bulk of their health care. With that reliance in mind, this article provides (1) an overview of important services that family physicians can provide for their adult patients with IDD and (2) pragmatic clinical suggestions for tailoring that care. Note: We highlight only some high-impact areas of clinical focus; refer to the 2018 Canadian consensus guidelines for a comprehensive approach to optimizing primary care for this population.¹

CASE

Laura S, a 24-year-old woman with Down syndrome, is visiting your clinic with her mother to establish care. Ms. S has several medical comorbidities, including type 2 diabetes, hyperlipidemia, repaired congenital heart disease, schizoaffective disorder, and hypothyroidism. She is under the care of multiple specialists, including a cardiologist and an endocrinologist. Her medications include the atypical antipsychotic risperidone, which was prescribed for her through the services of a community mental health center.

Ms. S is due for multiple preventive health screenings. She indicates that she feels nervous today talking about these screenings with a new physician.

First step in care: Proficiency in the lexicon of IDD

Three core concepts of IDD are impairment, disability, and handicap. According to the World Health Organization²:

• impairment “is any loss or abnormality of psychological, physiological, or anatomical structure or function.”
• disability “is any restriction or lack (resulting from an impairment) of ability to perform an activity in the manner or within the range considered normal for a human being.”
• handicap therefore “represents socialization of an impairment or disability, and as such it reflects the consequences for the individual—cultural, social, economic, and environmental—that stem from the presence of impairment and disability.”

Essential transition: Pediatric to adult health care

Health care transition (HCT) is the planned process of transferring care from a pediatric to an adult-based health care setting,³ comprising 3 phases:

• preparation
• transfer from pediatric to adult care
• integration into adult-based care.

Two critical components of a smooth HCT include initiating the transition early in adolescence and providing transition-support resources, which are often lacking, even in large, integrated health systems.⁴ Got Transition, created by the National Alliance to Advance Adolescent Health, outlines core elements of an organized HCT process (www.gottransition.org) specific to young adults with IDD, including young adults with autism spectrum disorder.^5,6 

Even young people who are served by a family physician and who intend to remain in that family practice as they age into adulthood require HCT services that include⁶:

• assessment of readiness to transition to adult care
• update of the medical history
• assessment and promotion of self-care skills
• consent discussions and optimized participation in decision-making
• transition of specialty care from pediatric to adult specialists.

Continue to: For an ideal HCT...

For an ideal health care transition, full engagement of the patient, the medical home, and the patient’s family (including the primary caregiver or guardian) is critical.

For an ideal HCT, full engagement of the patient, the medical home (physicians, nursing staff, and care coordinators), and the patient’s family (including the primary caregiver or guardian) is critical. In addition to preventive care visits and management of chronic disease, additional domains that require explicit attention in transitioning young people with IDD include health insurance, transportation, employment, and postsecondary education.

Young people who have special health care needs and receive high-quality HCT demonstrate improvements in adherence to care, disease-specific measures, quality of life, self-care skills, satisfaction with care, and health care utilization.⁷TABLE 1³ lists resources identified by Berens and colleagues that are helpful in facilitating the transition.

Teach and practice disability etiquette

Societal prejudice harms people with IDD—leading to self-deprecation, alienation from the larger community, and isolation from others with IDD.⁸ To promote acceptance and inclusivity in residential communities, the workplace, recreational venues, and clinical settings, disability etiquette should be utilized—a set of guidelines on how to interact with patients with IDD. These include speaking to the patient directly, using clear language in an adult voice, and avoiding stereotypes about people with disabilities.⁹ The entire health care team, including all front-facing staff (receptionists and care and financial coordinators) and clinical staff (physicians, nurses, medical assistants), need to be educated in, and practice, disability etiquette.

Preparing for in-person visits. Pre-­visit preparation, ideally by means of dialogue between health care staff and the patient or caregiver (or both), typically by telephone and in advance of the scheduled visit, is often critical for a successful first face-to-face encounter. (See “Pre-visit telephone questionnaire and script for a new adult patient with IDD,” page 287, which we developed for use in our office practice.) Outcomes of the pre-visit preparation should include identifying:

• words or actions that can trigger anxiety or panic
• de-escalation techniques, such as specific calming words and actions
• strategies for optimal communication, physical access, and physical examination.

Initial appointments should focus on building trust and rapport with the health care team and desensitizing the patient to the clinical environment.¹⁰ Examination techniques used with pediatric patients can be applied to this population: for example, demonstrating an examination maneuver first on the parent or caregiver; beginning the examination with the least invasive or anxiety-­provoking components; and stating what you plan to do next—before you do it.

Continue to: Systematic health checks provide great value

A health check is a systematic and comprehensive health assessment that is provided annually to adults with IDD, and includes:

• specific review of signs and symptoms of health conditions that often co-­occur in adults with IDD (TABLE 2Calibri¹¹)
• screening for changes in adaptive functioning and secondary disability
• lifestyle counseling
• medication review and counseling
• immunization update
• discussion of caregiver concerns.

Successful implementation of preventive health screening tests for a patient with IDD often requires ingenuity and creativity to allay fears and anxieties.

Regarding the last point: Many caregivers are the aging parents of the adult patient with IDD—people who have their own emerging health and support needs. You should initiate conversations about advanced planning for the needs of patients, which often involves engaging siblings and other family members to assume a greater role in caregiving.¹²

Benefits of the health check. A systematic review of 38 studies, comprising more than 5000 patients with IDD, found that health checks increased the detection of serious conditions, improved screening for sensory impairments, and increased the immunization rate.¹³ Although many patients with IDD generally understand the need for a periodic health examination, you can enhance their experience by better explaining the rationale for the health check; scheduling sufficient time for the appointment, based on the individual clinical situation; and discussing the value of laboratory testing and referrals to specialists.¹⁴

Tailoring preventive care

Many of the preventive services recommendations typically utilized by family physicians, such as guidelines from the US Preventive Services Task Force, have been developed for the general population at average risk of conditions of interest.¹⁵ Adults with IDD, depending on the cause of their developmental disability and their behavioral risk profile, might be at significantly higher (or lower) risk of cancer, heart disease, or other conditions than the general population. To address these differences, preventive care guidelines tailored to patients with certain developmental disabilities have been created, including guidelines specific to adults with Down syndrome, fragile X syndrome, Prader-Willi syndrome, Smith-Magenis syndrome, and 22q11.2 deletion (DiGeorge) syndrome.¹⁶

Clarifying the molecular genetic etiology of many developmental disabilities has led to more precise understandings about physical and behavioral health issues associated with specific developmental disabilities. For that reason, patients without a known cause for their IDD might benefit from referral to a geneticist—even in early or middle adulthood. Variables generally associated with a higher likelihood of an abnormal genetic test result include¹⁷:

• a family history of developmental disability
• a congenital malformation or dysmorphic features
• a dual diagnosis of developmental disability and co-occurring mental illness
• hypotonia
• severe or profound IDD.

Continue to: Successful implementation of preventive health screening tests...

Successful implementation of preventive health screening tests often requires ingenuity and the collective creativity of the patient, family members, staff, and family physician to allay fears and anxieties. Examples: Women who have been advised to undergo screening mammography might feel less anxious by undergoing tandem screening with their sister or mother, and colorectal cancer screening might be more easily accomplished using a fecal DNA test rather than by colonoscopy. Procedural desensitization strategies and preventive care instructional materials targeting people with IDD are posted on YouTube (for example, the “DD CARES Best Practices” series [see www.youtube.com/watch?v=EPJy4zvg4io]) and other websites.

Management of chronic disease

Evidence of health disparities in patients with IDD includes suboptimal management of chronic diseases, such as diabetes¹⁸ and hypertension,¹⁹ despite contact with a primary care physician. Nonadherence to a medication regimen might be more common in patients who live with their family or in a residential setting where there is a lower degree of supervision—that is, compared to a residence that maintains 24-hour staffing with daily nursing care and supervision. For a patient who is not so closely supervised, reviewing the medication refill history with the pharmacy, or using the so-called brown-bag technique of counting pill bottles brought to appointments, can ensure medication adherence.

CASE

As you interview Ms. S, you note that she is shy, avoids eye contact, and appears generally anxious. You calm her by noticing and complimenting her jewelry and fingernail polish. Ms. S smiles and talks about her favorite polish colors.

Evaluation of suspected mental and behavioral health issues begins with assessment for medical conditions that might be causing pain and distress or stereotypies.

Her mother reports that, when Ms. S is stressed, she talks to herself alone in her bedroom. However, you do not observe evidence of schizoaffective disorder, and begin to wonder whether she needs to be taking risperidone.

Essentials of mental health care

It is estimated that one-third of adults with IDD have significant mental and behavioral health care needs.²⁰ Patients with IDD suffer the same psychiatric disorders as the general population; some also engage in problematic behaviors, such as self-injurious actions, physical or verbal aggression (or both), property destruction, and resistance to caregiving assistance.

Continue to: Mental and behavioral health problems...

Mental and behavioral health problems can have a profound impact on the quality of life of patients with IDD, their peers, and their family and other caregivers. If untreated, these problems can lead to premature institutionalization, loss of employment or desired program participation, fractured social relationships, and caregiver withdrawal and burnout.

Initial evaluation of suspected mental and behavioral health problems begins with careful assessment for medical conditions that might be causing pain and distress, stereotypies, and other problematic behaviors. Common sources of pain and discomfort include dental and other oral disease, dysphagia, gastroesophageal reflux disease, gastritis, constipation, allergic disease, headache, musculoskeletal pathology, lower urinary tract disease, and gynecologic disorders.¹¹ Identification and optimal treatment of medical conditions might not eliminate problematic behaviors but often decrease their frequency and intensity.

Psychoactive medications are prescribed for many patients with IDD. Many have behavioral adverse effects, such as akathisia, aggression, and disinhibition—leading to a prescribing cascade of psychoactive medication polypharmacy and escalating dosages.²¹ Antipsychotic medications are often initiated without a careful diagnosis, explicit outcome targets, or adequate clinical monitoring for effectiveness; in addition, they often lead to insulin resistance, metabolic syndrome, and massive weight gain.²¹ Even a family physician who is not the prescriber can perform an important advocacy role by critically reviewing psychoactive medications, documenting adverse effects, insisting on a clear therapeutic target, and calling for discontinuation of medications that appear to be ineffective.

Evaluation of mental and behavioral health problems requires a developmental perspective to interpret specific, observable behaviors with a proper clinical lens. For example, many patients with IDD engage in self-talk (soliloquizing) as a means of processing the world around them. This practice might escalate during a time of physical or psychological stress, and the unwary clinician might misinterpret this behavior as psychotic, leading to inappropriate prescribing of antipsychotic medication. Other psychotoform behaviors that, superficially, mimic but are typically not truly psychotic, include talk with or about imaginary friends and repetitive retelling of sometimes elaborate or grandiose tales or assertions. The failure of clinicians to recognize developmentally determined expressions of distress often leads to a misdiagnosis of schizophrenia or other psychotic illness and, consequently, inappropriate psychopharmacotherapy. 

Family physicians, familiar with the use of psychiatric scales for diagnosis and treatment monitoring, should use similar scales that have been developed specifically for patients with IDD (TABLE 3¹¹). In addition, a psychiatric diagnosis manual, the Diagnostic Manual—Intellectual Disability 2, specific to people with IDD (and analogous to the Diagnostic and Statistical Manual of Mental Disorders, 5th Edition) provides modification of diagnostic criteria to account for patients who have difficulty articulating their internal emotional state and inner thoughts.²²

Continue to: Problematic behaviors

Problematic behaviors that are not features of a bona fide psychiatric disorder are often best understood through functional behavioral analysis, which examines antecedents and consequences of problematic behaviors and identifies their predictable outcomes, such as gaining attention, avoiding a task, or securing a desired item. Rather than being given a prescription for psychoactive medication, many adult patients with IDD and problematic behaviors might be best served by having you order consultation with a certified behavior analyst. The analyst will conduct an evaluation and, along with family or residential staff and the patient, craft a behavioral support plan to address core drivers of the undesired behavior. Behavioral support plans might be enriched by multidisciplinary input from a speech and language pathologist, habilitation professionals, occupational and physical therapists, a neuropsychologist, and others.²³

Antipsychotic medications are often initiated without a careful diagnosis. In addition, they often lead to insulin resistance, metabolic syndrome, and massive weight gain.

Resources to help you address the physical, mental, and behavioral health problems of these patients are available online through Vanderbilt Kennedy Center’s “Toolkit for primary care providers” (https://iddtoolkit.vkcsites.org).

CASE

During your examination, you review Ms. S’s vital signs, including body mass index (BMI). You calculate that she is morbidly obese—BMI, 37—in the setting of a known comorbidity, diabetes.

Ms. S tells you that she is interested in having a healthy lifestyle, but feels frustrated because she does not know how to make the necessary changes. You discuss with her how some medications, including risperidone, can promote weight gain, and that it is important for her mental health provider to carefully reassess whether she needs to continue the drug.

Weight management in a patient population that tends to be sedentary

Patients with IDD are more likely to live a sedentary lifestyle. Compared to adults who do not have IDD, adults with IDD—especially women and patients with Down syndrome—are reported to have a higher prevalence of obesity.²⁴

Continue to: As in the general population...

Similarly, undesired weight loss demands careful evaluation and management because such loss can reflect a medically significant condition, such as gastroesophageal reflux, constipation, dysphagia, neglect, and cancer.²⁷

Boosting the amount and effectiveness of physical activity

Young people with IDD participate in physical activity less often than their neurotypical peers; as a result, they tend to be less fit and have a higher prevalence of obesity.²⁸ Based on a meta-analysis, interventions that focus on sport and movement skills training, such as soccer, basketball, and ball-throwing programs, might be more effective than general physical activity programs.²⁸ In addition to year-round sports training and athletic competitions, Special Olympics conducts vital health screenings of athletes and supports community-based initiatives that address bias against patients with IDD, promote inclusion, and foster social relationships (www.specialolympics.org/our-work/inclusive-health?locale=en).

Success in weight management involves multidisciplinary treatment, including nutritional support, physical activity, behavioral changes, and close follow-up.

Emphasize regular activity. In adulthood, fewer than 10% of patients with IDD exercise regularly.²¹ According to the second edition of Physical Activity Guidelines for Americans,²⁹ “all adults, with or without a disability, should get at least 150 minutes of aerobic physical activity a week. Activities can be broken down into smaller amounts, such as about 25 minutes a day every day.”³⁰ Supplementation with muscle-strengthening activities (eg, yoga, weight training, and resistance-band training) provides further health benefit, such as improvement in posture and prevention of future injury.³¹ An ideal exercise program proposed by Tyler and Baker is based on a daily, “3-2-1” schedule (ie, of every hour of activity, 30 minutes should be of aerobic exercise; 20 minutes, of strength building; and 10 minutes, of flexibility).¹¹ By participating in any type of physical activity, there is potential for considerable health benefit in reducing psychosocial stressors, improving mental health, counteracting metabolic syndromes, and, ultimately, reducing morbidity and mortality related to physical inactivity.

CASE

With permission from Ms. S, you send your progress notes by fax to her mental health provider at the community mental health center and request a call to discuss her case—in particular, to examine potential alternatives to risperidone. With Ms. S’s input, you also co-create an exercise prescription that includes a daily 20-minute walking program with her mother.

At the follow-up visit that is scheduled in 3 months, you anticipate adding a resistance component and balance activity to the exercise prescription to enrich Ms. S’s physical activity regimen.

CORRESPONDENCE
Carl V. Tyler Jr., MD, 14601 Detroit Avenue, Lakewood, OH, 44107; [email protected]

Some adults who have an intellectual or other developmental disability (IDD) require extensive subspecialty care; many, however, depend primarily on their family physician for the bulk of their health care. With that reliance in mind, this article provides (1) an overview of important services that family physicians can provide for their adult patients with IDD and (2) pragmatic clinical suggestions for tailoring that care. Note: We highlight only some high-impact areas of clinical focus; refer to the 2018 Canadian consensus guidelines for a comprehensive approach to optimizing primary care for this population.¹

CASE

Laura S, a 24-year-old woman with Down syndrome, is visiting your clinic with her mother to establish care. Ms. S has several medical comorbidities, including type 2 diabetes, hyperlipidemia, repaired congenital heart disease, schizoaffective disorder, and hypothyroidism. She is under the care of multiple specialists, including a cardiologist and an endocrinologist. Her medications include the atypical antipsychotic risperidone, which was prescribed for her through the services of a community mental health center.

Ms. S is due for multiple preventive health screenings. She indicates that she feels nervous today talking about these screenings with a new physician.

First step in care: Proficiency in the lexicon of IDD

Three core concepts of IDD are impairment, disability, and handicap. According to the World Health Organization²:

• impairment “is any loss or abnormality of psychological, physiological, or anatomical structure or function.”
• disability “is any restriction or lack (resulting from an impairment) of ability to perform an activity in the manner or within the range considered normal for a human being.”
• handicap therefore “represents socialization of an impairment or disability, and as such it reflects the consequences for the individual—cultural, social, economic, and environmental—that stem from the presence of impairment and disability.”

Essential transition: Pediatric to adult health care

Health care transition (HCT) is the planned process of transferring care from a pediatric to an adult-based health care setting,³ comprising 3 phases:

• preparation
• transfer from pediatric to adult care
• integration into adult-based care.

Two critical components of a smooth HCT include initiating the transition early in adolescence and providing transition-support resources, which are often lacking, even in large, integrated health systems.⁴ Got Transition, created by the National Alliance to Advance Adolescent Health, outlines core elements of an organized HCT process (www.gottransition.org) specific to young adults with IDD, including young adults with autism spectrum disorder.^5,6 

Even young people who are served by a family physician and who intend to remain in that family practice as they age into adulthood require HCT services that include⁶:

• assessment of readiness to transition to adult care
• update of the medical history
• assessment and promotion of self-care skills
• consent discussions and optimized participation in decision-making
• transition of specialty care from pediatric to adult specialists.

Continue to: For an ideal HCT...

For an ideal health care transition, full engagement of the patient, the medical home, and the patient’s family (including the primary caregiver or guardian) is critical.

For an ideal HCT, full engagement of the patient, the medical home (physicians, nursing staff, and care coordinators), and the patient’s family (including the primary caregiver or guardian) is critical. In addition to preventive care visits and management of chronic disease, additional domains that require explicit attention in transitioning young people with IDD include health insurance, transportation, employment, and postsecondary education.

Young people who have special health care needs and receive high-quality HCT demonstrate improvements in adherence to care, disease-specific measures, quality of life, self-care skills, satisfaction with care, and health care utilization.⁷TABLE 1³ lists resources identified by Berens and colleagues that are helpful in facilitating the transition.

Teach and practice disability etiquette

Societal prejudice harms people with IDD—leading to self-deprecation, alienation from the larger community, and isolation from others with IDD.⁸ To promote acceptance and inclusivity in residential communities, the workplace, recreational venues, and clinical settings, disability etiquette should be utilized—a set of guidelines on how to interact with patients with IDD. These include speaking to the patient directly, using clear language in an adult voice, and avoiding stereotypes about people with disabilities.⁹ The entire health care team, including all front-facing staff (receptionists and care and financial coordinators) and clinical staff (physicians, nurses, medical assistants), need to be educated in, and practice, disability etiquette.

Preparing for in-person visits. Pre-­visit preparation, ideally by means of dialogue between health care staff and the patient or caregiver (or both), typically by telephone and in advance of the scheduled visit, is often critical for a successful first face-to-face encounter. (See “Pre-visit telephone questionnaire and script for a new adult patient with IDD,” page 287, which we developed for use in our office practice.) Outcomes of the pre-visit preparation should include identifying:

• words or actions that can trigger anxiety or panic
• de-escalation techniques, such as specific calming words and actions
• strategies for optimal communication, physical access, and physical examination.

Initial appointments should focus on building trust and rapport with the health care team and desensitizing the patient to the clinical environment.¹⁰ Examination techniques used with pediatric patients can be applied to this population: for example, demonstrating an examination maneuver first on the parent or caregiver; beginning the examination with the least invasive or anxiety-­provoking components; and stating what you plan to do next—before you do it.

Continue to: Systematic health checks provide great value

A health check is a systematic and comprehensive health assessment that is provided annually to adults with IDD, and includes:

• specific review of signs and symptoms of health conditions that often co-­occur in adults with IDD (TABLE 2Calibri¹¹)
• screening for changes in adaptive functioning and secondary disability
• lifestyle counseling
• medication review and counseling
• immunization update
• discussion of caregiver concerns.

Successful implementation of preventive health screening tests for a patient with IDD often requires ingenuity and creativity to allay fears and anxieties.

Regarding the last point: Many caregivers are the aging parents of the adult patient with IDD—people who have their own emerging health and support needs. You should initiate conversations about advanced planning for the needs of patients, which often involves engaging siblings and other family members to assume a greater role in caregiving.¹²

Benefits of the health check. A systematic review of 38 studies, comprising more than 5000 patients with IDD, found that health checks increased the detection of serious conditions, improved screening for sensory impairments, and increased the immunization rate.¹³ Although many patients with IDD generally understand the need for a periodic health examination, you can enhance their experience by better explaining the rationale for the health check; scheduling sufficient time for the appointment, based on the individual clinical situation; and discussing the value of laboratory testing and referrals to specialists.¹⁴

Tailoring preventive care

Many of the preventive services recommendations typically utilized by family physicians, such as guidelines from the US Preventive Services Task Force, have been developed for the general population at average risk of conditions of interest.¹⁵ Adults with IDD, depending on the cause of their developmental disability and their behavioral risk profile, might be at significantly higher (or lower) risk of cancer, heart disease, or other conditions than the general population. To address these differences, preventive care guidelines tailored to patients with certain developmental disabilities have been created, including guidelines specific to adults with Down syndrome, fragile X syndrome, Prader-Willi syndrome, Smith-Magenis syndrome, and 22q11.2 deletion (DiGeorge) syndrome.¹⁶

Clarifying the molecular genetic etiology of many developmental disabilities has led to more precise understandings about physical and behavioral health issues associated with specific developmental disabilities. For that reason, patients without a known cause for their IDD might benefit from referral to a geneticist—even in early or middle adulthood. Variables generally associated with a higher likelihood of an abnormal genetic test result include¹⁷:

• a family history of developmental disability
• a congenital malformation or dysmorphic features
• a dual diagnosis of developmental disability and co-occurring mental illness
• hypotonia
• severe or profound IDD.

Continue to: Successful implementation of preventive health screening tests...

Successful implementation of preventive health screening tests often requires ingenuity and the collective creativity of the patient, family members, staff, and family physician to allay fears and anxieties. Examples: Women who have been advised to undergo screening mammography might feel less anxious by undergoing tandem screening with their sister or mother, and colorectal cancer screening might be more easily accomplished using a fecal DNA test rather than by colonoscopy. Procedural desensitization strategies and preventive care instructional materials targeting people with IDD are posted on YouTube (for example, the “DD CARES Best Practices” series [see www.youtube.com/watch?v=EPJy4zvg4io]) and other websites.

Management of chronic disease

Evidence of health disparities in patients with IDD includes suboptimal management of chronic diseases, such as diabetes¹⁸ and hypertension,¹⁹ despite contact with a primary care physician. Nonadherence to a medication regimen might be more common in patients who live with their family or in a residential setting where there is a lower degree of supervision—that is, compared to a residence that maintains 24-hour staffing with daily nursing care and supervision. For a patient who is not so closely supervised, reviewing the medication refill history with the pharmacy, or using the so-called brown-bag technique of counting pill bottles brought to appointments, can ensure medication adherence.

CASE

As you interview Ms. S, you note that she is shy, avoids eye contact, and appears generally anxious. You calm her by noticing and complimenting her jewelry and fingernail polish. Ms. S smiles and talks about her favorite polish colors.

Evaluation of suspected mental and behavioral health issues begins with assessment for medical conditions that might be causing pain and distress or stereotypies.

Her mother reports that, when Ms. S is stressed, she talks to herself alone in her bedroom. However, you do not observe evidence of schizoaffective disorder, and begin to wonder whether she needs to be taking risperidone.

Essentials of mental health care

It is estimated that one-third of adults with IDD have significant mental and behavioral health care needs.²⁰ Patients with IDD suffer the same psychiatric disorders as the general population; some also engage in problematic behaviors, such as self-injurious actions, physical or verbal aggression (or both), property destruction, and resistance to caregiving assistance.

Continue to: Mental and behavioral health problems...

Mental and behavioral health problems can have a profound impact on the quality of life of patients with IDD, their peers, and their family and other caregivers. If untreated, these problems can lead to premature institutionalization, loss of employment or desired program participation, fractured social relationships, and caregiver withdrawal and burnout.

Initial evaluation of suspected mental and behavioral health problems begins with careful assessment for medical conditions that might be causing pain and distress, stereotypies, and other problematic behaviors. Common sources of pain and discomfort include dental and other oral disease, dysphagia, gastroesophageal reflux disease, gastritis, constipation, allergic disease, headache, musculoskeletal pathology, lower urinary tract disease, and gynecologic disorders.¹¹ Identification and optimal treatment of medical conditions might not eliminate problematic behaviors but often decrease their frequency and intensity.

Psychoactive medications are prescribed for many patients with IDD. Many have behavioral adverse effects, such as akathisia, aggression, and disinhibition—leading to a prescribing cascade of psychoactive medication polypharmacy and escalating dosages.²¹ Antipsychotic medications are often initiated without a careful diagnosis, explicit outcome targets, or adequate clinical monitoring for effectiveness; in addition, they often lead to insulin resistance, metabolic syndrome, and massive weight gain.²¹ Even a family physician who is not the prescriber can perform an important advocacy role by critically reviewing psychoactive medications, documenting adverse effects, insisting on a clear therapeutic target, and calling for discontinuation of medications that appear to be ineffective.

Evaluation of mental and behavioral health problems requires a developmental perspective to interpret specific, observable behaviors with a proper clinical lens. For example, many patients with IDD engage in self-talk (soliloquizing) as a means of processing the world around them. This practice might escalate during a time of physical or psychological stress, and the unwary clinician might misinterpret this behavior as psychotic, leading to inappropriate prescribing of antipsychotic medication. Other psychotoform behaviors that, superficially, mimic but are typically not truly psychotic, include talk with or about imaginary friends and repetitive retelling of sometimes elaborate or grandiose tales or assertions. The failure of clinicians to recognize developmentally determined expressions of distress often leads to a misdiagnosis of schizophrenia or other psychotic illness and, consequently, inappropriate psychopharmacotherapy. 

Family physicians, familiar with the use of psychiatric scales for diagnosis and treatment monitoring, should use similar scales that have been developed specifically for patients with IDD (TABLE 3¹¹). In addition, a psychiatric diagnosis manual, the Diagnostic Manual—Intellectual Disability 2, specific to people with IDD (and analogous to the Diagnostic and Statistical Manual of Mental Disorders, 5th Edition) provides modification of diagnostic criteria to account for patients who have difficulty articulating their internal emotional state and inner thoughts.²²

Continue to: Problematic behaviors

Problematic behaviors that are not features of a bona fide psychiatric disorder are often best understood through functional behavioral analysis, which examines antecedents and consequences of problematic behaviors and identifies their predictable outcomes, such as gaining attention, avoiding a task, or securing a desired item. Rather than being given a prescription for psychoactive medication, many adult patients with IDD and problematic behaviors might be best served by having you order consultation with a certified behavior analyst. The analyst will conduct an evaluation and, along with family or residential staff and the patient, craft a behavioral support plan to address core drivers of the undesired behavior. Behavioral support plans might be enriched by multidisciplinary input from a speech and language pathologist, habilitation professionals, occupational and physical therapists, a neuropsychologist, and others.²³

Antipsychotic medications are often initiated without a careful diagnosis. In addition, they often lead to insulin resistance, metabolic syndrome, and massive weight gain.

Resources to help you address the physical, mental, and behavioral health problems of these patients are available online through Vanderbilt Kennedy Center’s “Toolkit for primary care providers” (https://iddtoolkit.vkcsites.org).

CASE

During your examination, you review Ms. S’s vital signs, including body mass index (BMI). You calculate that she is morbidly obese—BMI, 37—in the setting of a known comorbidity, diabetes.

Ms. S tells you that she is interested in having a healthy lifestyle, but feels frustrated because she does not know how to make the necessary changes. You discuss with her how some medications, including risperidone, can promote weight gain, and that it is important for her mental health provider to carefully reassess whether she needs to continue the drug.

Weight management in a patient population that tends to be sedentary

Patients with IDD are more likely to live a sedentary lifestyle. Compared to adults who do not have IDD, adults with IDD—especially women and patients with Down syndrome—are reported to have a higher prevalence of obesity.²⁴

Continue to: As in the general population...

Similarly, undesired weight loss demands careful evaluation and management because such loss can reflect a medically significant condition, such as gastroesophageal reflux, constipation, dysphagia, neglect, and cancer.²⁷

Boosting the amount and effectiveness of physical activity

Young people with IDD participate in physical activity less often than their neurotypical peers; as a result, they tend to be less fit and have a higher prevalence of obesity.²⁸ Based on a meta-analysis, interventions that focus on sport and movement skills training, such as soccer, basketball, and ball-throwing programs, might be more effective than general physical activity programs.²⁸ In addition to year-round sports training and athletic competitions, Special Olympics conducts vital health screenings of athletes and supports community-based initiatives that address bias against patients with IDD, promote inclusion, and foster social relationships (www.specialolympics.org/our-work/inclusive-health?locale=en).

Success in weight management involves multidisciplinary treatment, including nutritional support, physical activity, behavioral changes, and close follow-up.

Emphasize regular activity. In adulthood, fewer than 10% of patients with IDD exercise regularly.²¹ According to the second edition of Physical Activity Guidelines for Americans,²⁹ “all adults, with or without a disability, should get at least 150 minutes of aerobic physical activity a week. Activities can be broken down into smaller amounts, such as about 25 minutes a day every day.”³⁰ Supplementation with muscle-strengthening activities (eg, yoga, weight training, and resistance-band training) provides further health benefit, such as improvement in posture and prevention of future injury.³¹ An ideal exercise program proposed by Tyler and Baker is based on a daily, “3-2-1” schedule (ie, of every hour of activity, 30 minutes should be of aerobic exercise; 20 minutes, of strength building; and 10 minutes, of flexibility).¹¹ By participating in any type of physical activity, there is potential for considerable health benefit in reducing psychosocial stressors, improving mental health, counteracting metabolic syndromes, and, ultimately, reducing morbidity and mortality related to physical inactivity.

CASE

With permission from Ms. S, you send your progress notes by fax to her mental health provider at the community mental health center and request a call to discuss her case—in particular, to examine potential alternatives to risperidone. With Ms. S’s input, you also co-create an exercise prescription that includes a daily 20-minute walking program with her mother.

At the follow-up visit that is scheduled in 3 months, you anticipate adding a resistance component and balance activity to the exercise prescription to enrich Ms. S’s physical activity regimen.

CORRESPONDENCE
Carl V. Tyler Jr., MD, 14601 Detroit Avenue, Lakewood, OH, 44107; [email protected]

The clinical features of targetoid lesions occurring soon after herpes simplex virus (HSV) infection points to a diagnosis of erythema multiforme (EM), which was confirmed by punch biopsy. The differential diagnosis for targetoid small lesions includes granuloma annulare, pityriasis rosea, and linear IgA bullous dermatosis. Larger targetoid lesions would be more concerning for erythema migrans (Lyme disease), tumid lupus, and severe tinea corporis.

Erythema multiforme represents an immune reaction triggered most often by HSV. About 10% of cases are triggered by exposure to various other viruses, drugs, and bacteria—notably, Mycoplasma pneumonia.¹ Symptoms vary from mildly uncomfortable crops of annular and targetoid plaques to widespread annular plaques and bullae.

In the past, EM was considered a clinical variant along a continuum with Stevens Johnson Syndrome (SJS) and toxic epidermal necrolysis (TEN). Although mucosal involvement may occur with EM, it never progresses to SJS or TEN. The latter 2 diagnoses are associated with significant skin pain, dusky confluent patches, and a positive Nikolsky sign—wherein skin pressure causes superficial separation of the epidermis. Additionally, SJS and TEN tend to involve the trunk, whereas EM typically involves acral surfaces.

EM is self-limited but may recur in patients with additional HSV flares. Patients with frequent recurrences benefit from long-term suppression of HSV with valacyclovir 500 mg bid. Nonsteroidal anti-inflammatory drugs and cool compresses control mild pain. Itching may be relieved with topical, medium-potency steroids or oral antihistamines. Oral ulcers or lesions may be treated with lidocaine oral suspension. Systemic steroids are contraindicated for mild disease, but they have a somewhat controversial role in alleviating severe symptoms.

This patient had mild symptoms and tolerated topical triamcinolone 0.1% cream bid without recurrence at 6 months.

‌

Text courtesy of Jonathan Karnes, MD, medical director, MDFMR Dermatology Services, Augusta, ME. Photos courtesy of Jonathan Karnes, MD (copyright retained).

The clinical features of targetoid lesions occurring soon after herpes simplex virus (HSV) infection points to a diagnosis of erythema multiforme (EM), which was confirmed by punch biopsy. The differential diagnosis for targetoid small lesions includes granuloma annulare, pityriasis rosea, and linear IgA bullous dermatosis. Larger targetoid lesions would be more concerning for erythema migrans (Lyme disease), tumid lupus, and severe tinea corporis.

Erythema multiforme represents an immune reaction triggered most often by HSV. About 10% of cases are triggered by exposure to various other viruses, drugs, and bacteria—notably, Mycoplasma pneumonia.¹ Symptoms vary from mildly uncomfortable crops of annular and targetoid plaques to widespread annular plaques and bullae.

In the past, EM was considered a clinical variant along a continuum with Stevens Johnson Syndrome (SJS) and toxic epidermal necrolysis (TEN). Although mucosal involvement may occur with EM, it never progresses to SJS or TEN. The latter 2 diagnoses are associated with significant skin pain, dusky confluent patches, and a positive Nikolsky sign—wherein skin pressure causes superficial separation of the epidermis. Additionally, SJS and TEN tend to involve the trunk, whereas EM typically involves acral surfaces.

EM is self-limited but may recur in patients with additional HSV flares. Patients with frequent recurrences benefit from long-term suppression of HSV with valacyclovir 500 mg bid. Nonsteroidal anti-inflammatory drugs and cool compresses control mild pain. Itching may be relieved with topical, medium-potency steroids or oral antihistamines. Oral ulcers or lesions may be treated with lidocaine oral suspension. Systemic steroids are contraindicated for mild disease, but they have a somewhat controversial role in alleviating severe symptoms.

This patient had mild symptoms and tolerated topical triamcinolone 0.1% cream bid without recurrence at 6 months.

‌

Text courtesy of Jonathan Karnes, MD, medical director, MDFMR Dermatology Services, Augusta, ME. Photos courtesy of Jonathan Karnes, MD (copyright retained).

The clinical features of targetoid lesions occurring soon after herpes simplex virus (HSV) infection points to a diagnosis of erythema multiforme (EM), which was confirmed by punch biopsy. The differential diagnosis for targetoid small lesions includes granuloma annulare, pityriasis rosea, and linear IgA bullous dermatosis. Larger targetoid lesions would be more concerning for erythema migrans (Lyme disease), tumid lupus, and severe tinea corporis.

Erythema multiforme represents an immune reaction triggered most often by HSV. About 10% of cases are triggered by exposure to various other viruses, drugs, and bacteria—notably, Mycoplasma pneumonia.¹ Symptoms vary from mildly uncomfortable crops of annular and targetoid plaques to widespread annular plaques and bullae.

In the past, EM was considered a clinical variant along a continuum with Stevens Johnson Syndrome (SJS) and toxic epidermal necrolysis (TEN). Although mucosal involvement may occur with EM, it never progresses to SJS or TEN. The latter 2 diagnoses are associated with significant skin pain, dusky confluent patches, and a positive Nikolsky sign—wherein skin pressure causes superficial separation of the epidermis. Additionally, SJS and TEN tend to involve the trunk, whereas EM typically involves acral surfaces.

EM is self-limited but may recur in patients with additional HSV flares. Patients with frequent recurrences benefit from long-term suppression of HSV with valacyclovir 500 mg bid. Nonsteroidal anti-inflammatory drugs and cool compresses control mild pain. Itching may be relieved with topical, medium-potency steroids or oral antihistamines. Oral ulcers or lesions may be treated with lidocaine oral suspension. Systemic steroids are contraindicated for mild disease, but they have a somewhat controversial role in alleviating severe symptoms.

This patient had mild symptoms and tolerated topical triamcinolone 0.1% cream bid without recurrence at 6 months.

‌

Text courtesy of Jonathan Karnes, MD, medical director, MDFMR Dermatology Services, Augusta, ME. Photos courtesy of Jonathan Karnes, MD (copyright retained).

REFERENCES

1. US Preventive Services Task Force. Behavioral counseling interventions for healthy weight and weight gain in pregnancy: US Preventive Services Task Force recommendation statement. JAMA. 2021;325:2087-2092. doi:10.1001/jama.2021.6949
2. Rasmussen KM, Yaktine AL, eds. Weight Gain During Pregnancy: Reexamining the Guidelines. National Academies Press; 2009. doi: 10.17226/12584

REFERENCES

1. US Preventive Services Task Force. Behavioral counseling interventions for healthy weight and weight gain in pregnancy: US Preventive Services Task Force recommendation statement. JAMA. 2021;325:2087-2092. doi:10.1001/jama.2021.6949
2. Rasmussen KM, Yaktine AL, eds. Weight Gain During Pregnancy: Reexamining the Guidelines. National Academies Press; 2009. doi: 10.17226/12584

REFERENCES

1. US Preventive Services Task Force. Behavioral counseling interventions for healthy weight and weight gain in pregnancy: US Preventive Services Task Force recommendation statement. JAMA. 2021;325:2087-2092. doi:10.1001/jama.2021.6949
2. Rasmussen KM, Yaktine AL, eds. Weight Gain During Pregnancy: Reexamining the Guidelines. National Academies Press; 2009. doi: 10.17226/12584

Excisional biopsy was performed on a small tumor and immune staining suggested lung cancer as the primary source.

Metastatic cancer of an unknown primary source accounts for 3% to 5% of invasive cancers.¹ Poorly differentiated SCC, as in this case, may arise from skin, lung, or head and neck SCC. Risks of metastatic disease in cutaneous SCC include size greater than 2 cm, depth greater than 2 mm, and location on the ear, hand, lip, or within a burn.² Recurrent tumors, poorly differentiated tumors, and tumors demonstrating perineural invasion also increase the risk of metastasis.

Having failed both previous treatments, further tissue characterization offered some hope of effective immunotherapy. Specifically, SCC from lung cancer as a primary source may express programmed-death ligand 1 (PD-L1), a transmembrane protein that suppresses adaptive immune responses. Pembrolizumab inhibits this molecule leading to a more aggressive immune response to tumor cells. Additionally, tumor profiling of specific oncogenes can highlight potentially beneficial therapies.

In this case, gene profiling identified several active tumor oncogenes, but PD-L1 was not strongly expressed. Despite the effort, this process did not uncover practical or novel treatment options. The patient was offered an empiric trial of immunotherapy but opted to pursue palliative therapy alone and passed away 2 months later.

This case highlights the role of multidisciplinary care of metastatic disease to the skin and the potential role, and limitations, of skin biopsy in tumor profiling and treatment guidance. Even though the most likely primary site was lung, cutaneous metastases can be equally devastating.

‌

Text courtesy of Jonathan Karnes, MD, medical director, MDFMR Dermatology Services, Augusta, ME. Photos courtesy of Jonathan Karnes, MD (copyright retained).

Excisional biopsy was performed on a small tumor and immune staining suggested lung cancer as the primary source.

Metastatic cancer of an unknown primary source accounts for 3% to 5% of invasive cancers.¹ Poorly differentiated SCC, as in this case, may arise from skin, lung, or head and neck SCC. Risks of metastatic disease in cutaneous SCC include size greater than 2 cm, depth greater than 2 mm, and location on the ear, hand, lip, or within a burn.² Recurrent tumors, poorly differentiated tumors, and tumors demonstrating perineural invasion also increase the risk of metastasis.

Having failed both previous treatments, further tissue characterization offered some hope of effective immunotherapy. Specifically, SCC from lung cancer as a primary source may express programmed-death ligand 1 (PD-L1), a transmembrane protein that suppresses adaptive immune responses. Pembrolizumab inhibits this molecule leading to a more aggressive immune response to tumor cells. Additionally, tumor profiling of specific oncogenes can highlight potentially beneficial therapies.

In this case, gene profiling identified several active tumor oncogenes, but PD-L1 was not strongly expressed. Despite the effort, this process did not uncover practical or novel treatment options. The patient was offered an empiric trial of immunotherapy but opted to pursue palliative therapy alone and passed away 2 months later.

This case highlights the role of multidisciplinary care of metastatic disease to the skin and the potential role, and limitations, of skin biopsy in tumor profiling and treatment guidance. Even though the most likely primary site was lung, cutaneous metastases can be equally devastating.

‌

Text courtesy of Jonathan Karnes, MD, medical director, MDFMR Dermatology Services, Augusta, ME. Photos courtesy of Jonathan Karnes, MD (copyright retained).

Excisional biopsy was performed on a small tumor and immune staining suggested lung cancer as the primary source.

Metastatic cancer of an unknown primary source accounts for 3% to 5% of invasive cancers.¹ Poorly differentiated SCC, as in this case, may arise from skin, lung, or head and neck SCC. Risks of metastatic disease in cutaneous SCC include size greater than 2 cm, depth greater than 2 mm, and location on the ear, hand, lip, or within a burn.² Recurrent tumors, poorly differentiated tumors, and tumors demonstrating perineural invasion also increase the risk of metastasis.

Having failed both previous treatments, further tissue characterization offered some hope of effective immunotherapy. Specifically, SCC from lung cancer as a primary source may express programmed-death ligand 1 (PD-L1), a transmembrane protein that suppresses adaptive immune responses. Pembrolizumab inhibits this molecule leading to a more aggressive immune response to tumor cells. Additionally, tumor profiling of specific oncogenes can highlight potentially beneficial therapies.

In this case, gene profiling identified several active tumor oncogenes, but PD-L1 was not strongly expressed. Despite the effort, this process did not uncover practical or novel treatment options. The patient was offered an empiric trial of immunotherapy but opted to pursue palliative therapy alone and passed away 2 months later.

This case highlights the role of multidisciplinary care of metastatic disease to the skin and the potential role, and limitations, of skin biopsy in tumor profiling and treatment guidance. Even though the most likely primary site was lung, cutaneous metastases can be equally devastating.

‌

Text courtesy of Jonathan Karnes, MD, medical director, MDFMR Dermatology Services, Augusta, ME. Photos courtesy of Jonathan Karnes, MD (copyright retained).

A punch biopsy revealed lichenoid interface dermatitis with eosinophils and mild spongiosis—consistent with, but not conclusive for, a drug eruption. A complete blood count (CBC) and comprehensive metabolic panel revealed elevated levels of eosinophils and transaminases which raised the possibility of drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome. In this patient’s case, the transaminitis suggested some mild hepatitis; the liver is the most common organ involved in DRESS.

Diagnostic criteria for DRESS syndrome need not always be met but can include fever, lymphadenopathy, facial edema, and a morbilliform rash presenting 2 to 3 weeks after drug exposure. In this case, a lack of fever, facial edema, and other systemic symptoms favored a less severe drug eruption or what has been described as mini-DRESS.¹ DRESS syndrome often merits hospitalization, and in 10% of cases it can be fatal.¹

The patient in this case was started on prednisone 60 mg/d and her OCPs were discontinued. One week later, a repeat CBC showed normalized levels of eosinophils and transaminases. However, shortly after a 3-week taper of the prednisone, her levels of eosinophils and transaminases rose again. A repeat prednisone taper finally led to complete resolution of rash and sustained normalization of eosinophil and transaminase levels.

‌

Text courtesy of Jonathan Karnes, MD, medical director, MDFMR Dermatology Services, Augusta, ME. Photos courtesy of Jonathan Karnes, MD (copyright retained).

A punch biopsy revealed lichenoid interface dermatitis with eosinophils and mild spongiosis—consistent with, but not conclusive for, a drug eruption. A complete blood count (CBC) and comprehensive metabolic panel revealed elevated levels of eosinophils and transaminases which raised the possibility of drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome. In this patient’s case, the transaminitis suggested some mild hepatitis; the liver is the most common organ involved in DRESS.

Diagnostic criteria for DRESS syndrome need not always be met but can include fever, lymphadenopathy, facial edema, and a morbilliform rash presenting 2 to 3 weeks after drug exposure. In this case, a lack of fever, facial edema, and other systemic symptoms favored a less severe drug eruption or what has been described as mini-DRESS.¹ DRESS syndrome often merits hospitalization, and in 10% of cases it can be fatal.¹

The patient in this case was started on prednisone 60 mg/d and her OCPs were discontinued. One week later, a repeat CBC showed normalized levels of eosinophils and transaminases. However, shortly after a 3-week taper of the prednisone, her levels of eosinophils and transaminases rose again. A repeat prednisone taper finally led to complete resolution of rash and sustained normalization of eosinophil and transaminase levels.

‌

Text courtesy of Jonathan Karnes, MD, medical director, MDFMR Dermatology Services, Augusta, ME. Photos courtesy of Jonathan Karnes, MD (copyright retained).

A punch biopsy revealed lichenoid interface dermatitis with eosinophils and mild spongiosis—consistent with, but not conclusive for, a drug eruption. A complete blood count (CBC) and comprehensive metabolic panel revealed elevated levels of eosinophils and transaminases which raised the possibility of drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome. In this patient’s case, the transaminitis suggested some mild hepatitis; the liver is the most common organ involved in DRESS.

Diagnostic criteria for DRESS syndrome need not always be met but can include fever, lymphadenopathy, facial edema, and a morbilliform rash presenting 2 to 3 weeks after drug exposure. In this case, a lack of fever, facial edema, and other systemic symptoms favored a less severe drug eruption or what has been described as mini-DRESS.¹ DRESS syndrome often merits hospitalization, and in 10% of cases it can be fatal.¹

The patient in this case was started on prednisone 60 mg/d and her OCPs were discontinued. One week later, a repeat CBC showed normalized levels of eosinophils and transaminases. However, shortly after a 3-week taper of the prednisone, her levels of eosinophils and transaminases rose again. A repeat prednisone taper finally led to complete resolution of rash and sustained normalization of eosinophil and transaminase levels.

‌

Text courtesy of Jonathan Karnes, MD, medical director, MDFMR Dermatology Services, Augusta, ME. Photos courtesy of Jonathan Karnes, MD (copyright retained).

Waxy loose scale with associated erythema on the face and scalp is a classic sign of seborrheic dermatitis (SD).

SD is caused by inflammation related to the presence of Malassezia, which proliferates on sebum-rich areas of skin. Malassezia is normally present on the skin, but some individuals have a heightened sensitivity to it, leading to erythema and scale. It is prudent to examine the scalp, nasolabial folds, and around the ears where it often occurs concomitantly.

There are multiple topical and systemic options which treat the fungal involvement, the subsequent inflammation, and reduce the scale.¹ Topical azole antifungals are effective for reducing the amount of Malassezia present. Topical steroids work well to reduce the erythema. Fortunately, low-potency steroids, including hydrocortisone and desonide, are adequate. This is important since SD frequently involves the face and higher-potency steroids can cause skin atrophy or rebound erythema.

Salicylic acid products exfoliate the scale and topical tar products suppress the scale, both leading to clinical improvement. Sunlight and narrow beam UVB light therapy are also effective treatments. As was true with this patient, SD often improves during the summer months (when there is more sunlight) and when patients shave, as this allows for additional sun exposure to the skin.

The patient in this case was told to use ketoconazole shampoo for his scalp, beard, and mustache. He was instructed to use it at least 3 times per week, applying it to the scalp as the first part of his bathing routine and then waiting until the end to rinse it off. This technique maximizes the antifungal shampoo’s contact time on the skin. He was also given a prescription for ketoconazole cream to apply twice daily to the areas of facial erythema and scale. He was counseled that shaving his beard and mustache might help reduce the SD in those areas.

‌

Photo and text courtesy of Daniel Stulberg, MD, FAAFP, Department of Family and Community Medicine, University of New Mexico School of Medicine, Albuquerque

Waxy loose scale with associated erythema on the face and scalp is a classic sign of seborrheic dermatitis (SD).

SD is caused by inflammation related to the presence of Malassezia, which proliferates on sebum-rich areas of skin. Malassezia is normally present on the skin, but some individuals have a heightened sensitivity to it, leading to erythema and scale. It is prudent to examine the scalp, nasolabial folds, and around the ears where it often occurs concomitantly.

There are multiple topical and systemic options which treat the fungal involvement, the subsequent inflammation, and reduce the scale.¹ Topical azole antifungals are effective for reducing the amount of Malassezia present. Topical steroids work well to reduce the erythema. Fortunately, low-potency steroids, including hydrocortisone and desonide, are adequate. This is important since SD frequently involves the face and higher-potency steroids can cause skin atrophy or rebound erythema.

Salicylic acid products exfoliate the scale and topical tar products suppress the scale, both leading to clinical improvement. Sunlight and narrow beam UVB light therapy are also effective treatments. As was true with this patient, SD often improves during the summer months (when there is more sunlight) and when patients shave, as this allows for additional sun exposure to the skin.

The patient in this case was told to use ketoconazole shampoo for his scalp, beard, and mustache. He was instructed to use it at least 3 times per week, applying it to the scalp as the first part of his bathing routine and then waiting until the end to rinse it off. This technique maximizes the antifungal shampoo’s contact time on the skin. He was also given a prescription for ketoconazole cream to apply twice daily to the areas of facial erythema and scale. He was counseled that shaving his beard and mustache might help reduce the SD in those areas.

‌

Photo and text courtesy of Daniel Stulberg, MD, FAAFP, Department of Family and Community Medicine, University of New Mexico School of Medicine, Albuquerque

Waxy loose scale with associated erythema on the face and scalp is a classic sign of seborrheic dermatitis (SD).

SD is caused by inflammation related to the presence of Malassezia, which proliferates on sebum-rich areas of skin. Malassezia is normally present on the skin, but some individuals have a heightened sensitivity to it, leading to erythema and scale. It is prudent to examine the scalp, nasolabial folds, and around the ears where it often occurs concomitantly.

There are multiple topical and systemic options which treat the fungal involvement, the subsequent inflammation, and reduce the scale.¹ Topical azole antifungals are effective for reducing the amount of Malassezia present. Topical steroids work well to reduce the erythema. Fortunately, low-potency steroids, including hydrocortisone and desonide, are adequate. This is important since SD frequently involves the face and higher-potency steroids can cause skin atrophy or rebound erythema.

Salicylic acid products exfoliate the scale and topical tar products suppress the scale, both leading to clinical improvement. Sunlight and narrow beam UVB light therapy are also effective treatments. As was true with this patient, SD often improves during the summer months (when there is more sunlight) and when patients shave, as this allows for additional sun exposure to the skin.

The patient in this case was told to use ketoconazole shampoo for his scalp, beard, and mustache. He was instructed to use it at least 3 times per week, applying it to the scalp as the first part of his bathing routine and then waiting until the end to rinse it off. This technique maximizes the antifungal shampoo’s contact time on the skin. He was also given a prescription for ketoconazole cream to apply twice daily to the areas of facial erythema and scale. He was counseled that shaving his beard and mustache might help reduce the SD in those areas.

‌

Photo and text courtesy of Daniel Stulberg, MD, FAAFP, Department of Family and Community Medicine, University of New Mexico School of Medicine, Albuquerque

EVIDENCE SUMMARY

Event-driven PrEP is effective for prevention of HIV transmission

An RCT evaluating the effectiveness of event-driven PrEP in 400 patients at high risk for HIV found that it reduced HIV incidence by 86% compared to placebo. Researchers recruited HIV-negative men or transgender women who had sex with men, who’d had condomless anal sex with at least 2 partners in the previous 6 months, and followed them for a median of 9.3 months for HIV acquisition.¹

Patients randomized to ­event-driven PrEP took tenofovir-emtricitabine (300-200 mg) on the following schedule: 2 pills 2 to 24 hours before intercourse (or 1 pill if they had taken it within the past week), followed by a third pill 24 hours later, and a fourth pill 24 hours after that. When patients had multiple consecutive episodes of intercourse, daily use was continued until 2 days after the last episode. Patients in the control group took placebo pills.¹

Event-driven PrEP reduced HIV incidence vs placebo (2 infections vs 14 infections; 0.91 vs 6.6 per 100 person-years; relative risk [RR] = 0.86; P = .002). PrEP produced more gastrointestinal (14% vs 5%; P = .002) and renal (18% vs 10%; P = .03) adverse effects than placebo. Participants took a median of 15 pills per month.¹

A post-hoc analysis of the above study, evaluating 270 patients, found that event-driven PrEP reduced HIV incidence by 100% during periods of less frequent sexual encounters. Selected participants had a median of 5 sexual encounters per month (range, 2-10), used a median of 9.5 pills per month (range, 6-13), and represented 134 person-years of follow-up. No HIV infections (0 per 100 person-years; 95% CI, 0-5; P = .013) were diagnosed in the PrEP group and 6 HIV infections (9.2 per 100 person-years; 95% CI, 3.4-20.1) were diagnosed in the placebo group, with a relative reduction of HIV incidence of 100% (95% CI, 39-100).²

For comparison, 2 large open-label trials evaluating daily PrEP found that it reduced HIV incidence by 44%³ and 86%⁴ vs placebo.

In 2019, the USPSTF published a recommendation that clinicians offer PrEP with effective antiretroviral therapy to patients at high risk for HIV acquisition.

Adherence is better with daily PrEPthan event-driven PrEP

Three prospective cohort trials evaluated PrEP adherence (extent that participants were taking PrEP at the time of sexual encounters) with different dosing regimens and found that event-driven PrEP tended to have lower adherence than daily PrEP. An open-­label trial in Bangkok and Harlem (New York City) randomized 357 at-risk patients to 1 of 3 regimens: event-driven (1 tablet before and after sex), time-driven (1 tablet twice weekly with a postsex dose), and daily. Overall, patients with event-driven PrEP had lower adherence than those with daily PrEP (67% event-driven vs 97% daily; P < 0.0001).⁵

Continue to: In an open-label...

In an open-label prospective cohort trial in Belgium, at-risk patients chose between using event-driven (N = 44) and daily (N = 135) PrEP. Analysis was conducted for both high-risk HIV exposure days (defined as condomless anal receptive intercourse with a new or HIV-positive steady partner with a detectable viral load) and low-risk HIV exposure days (consistent condom use or condomless anal intercourse with a steady partner who is HIV-negative). Over 18 months, lower adherence was demonstrated with event-driven PrEP than with daily PrEP for high-risk days (88% [95% CI, 86%-90%] vs 97.5% [95% CI, 97%-98%]; P < .0001) and also for low-risk days (42% [95% CI, 40%-45%] vs 96% [95% CI, 95%-96%]; P < .0001).⁶ Researchers diagnosed no new HIV infections in any participant, and the incidence of STIs was the same in both groups.

A third open-label trial evaluated adherence among 178 South African women randomized to event-driven or daily PrEP and found lower sexual event coverage with event-driven PrEP (52% vs 75%; odds ratio = 2.76; 95% CI, 1.68-4.53; P < 0.0006). Four women in each group seroconverted to HIV positive.⁷

Drug costs, patient preferences, and STI risk are important considerations

Several of the above trials reported use of fewer pills in the event-driven groups, with lower drug costs.^2,5,7 A large prospective cohort trial of men who have sex with men (N = 1049) with an average of 10 sexual partners found that most (76%) opted for event-driven PrEP.⁸ Researchers also reported no difference in STI rates (RR = 1.24 for “at least 1 bacterial STI”; 95% CI, 0.84 to 1.81).⁸ However, a smaller, open-label prospective cohort trial (N = 200) found that more participants chose daily PrEP than event-driven PrEP (76.5% vs 23.5%), although almost all said they would change their dosing regimen in the next year.⁹

Recommendations from others

In 2019, the World Health Organization recommended oral PrEP as an additional prevention choice for people at substantial risk for HIV infection and stated that different dosing strategies offer users flexibility, choice, and convenience.¹⁰ Also in 2019, the US Preventive Services Task Force published a recommendation that clinicians offer PrEP with effective antiretroviral therapy to patients at high risk for HIV acquisition. They did not specify which regimen to offer.¹¹

Editor’s takeaway

While there are theoretical reasons why event-driven PrEP might not work as well as daily PrEP, we have 1 RCT that suggests the real-world outcomes are similar. Given the apparent effectiveness of either option, the best choice is the one the patient will use. JFP

EVIDENCE SUMMARY

Event-driven PrEP is effective for prevention of HIV transmission

An RCT evaluating the effectiveness of event-driven PrEP in 400 patients at high risk for HIV found that it reduced HIV incidence by 86% compared to placebo. Researchers recruited HIV-negative men or transgender women who had sex with men, who’d had condomless anal sex with at least 2 partners in the previous 6 months, and followed them for a median of 9.3 months for HIV acquisition.¹

Patients randomized to ­event-driven PrEP took tenofovir-emtricitabine (300-200 mg) on the following schedule: 2 pills 2 to 24 hours before intercourse (or 1 pill if they had taken it within the past week), followed by a third pill 24 hours later, and a fourth pill 24 hours after that. When patients had multiple consecutive episodes of intercourse, daily use was continued until 2 days after the last episode. Patients in the control group took placebo pills.¹

Event-driven PrEP reduced HIV incidence vs placebo (2 infections vs 14 infections; 0.91 vs 6.6 per 100 person-years; relative risk [RR] = 0.86; P = .002). PrEP produced more gastrointestinal (14% vs 5%; P = .002) and renal (18% vs 10%; P = .03) adverse effects than placebo. Participants took a median of 15 pills per month.¹

A post-hoc analysis of the above study, evaluating 270 patients, found that event-driven PrEP reduced HIV incidence by 100% during periods of less frequent sexual encounters. Selected participants had a median of 5 sexual encounters per month (range, 2-10), used a median of 9.5 pills per month (range, 6-13), and represented 134 person-years of follow-up. No HIV infections (0 per 100 person-years; 95% CI, 0-5; P = .013) were diagnosed in the PrEP group and 6 HIV infections (9.2 per 100 person-years; 95% CI, 3.4-20.1) were diagnosed in the placebo group, with a relative reduction of HIV incidence of 100% (95% CI, 39-100).²

For comparison, 2 large open-label trials evaluating daily PrEP found that it reduced HIV incidence by 44%³ and 86%⁴ vs placebo.

In 2019, the USPSTF published a recommendation that clinicians offer PrEP with effective antiretroviral therapy to patients at high risk for HIV acquisition.

Adherence is better with daily PrEPthan event-driven PrEP

Three prospective cohort trials evaluated PrEP adherence (extent that participants were taking PrEP at the time of sexual encounters) with different dosing regimens and found that event-driven PrEP tended to have lower adherence than daily PrEP. An open-­label trial in Bangkok and Harlem (New York City) randomized 357 at-risk patients to 1 of 3 regimens: event-driven (1 tablet before and after sex), time-driven (1 tablet twice weekly with a postsex dose), and daily. Overall, patients with event-driven PrEP had lower adherence than those with daily PrEP (67% event-driven vs 97% daily; P < 0.0001).⁵

Continue to: In an open-label...

In an open-label prospective cohort trial in Belgium, at-risk patients chose between using event-driven (N = 44) and daily (N = 135) PrEP. Analysis was conducted for both high-risk HIV exposure days (defined as condomless anal receptive intercourse with a new or HIV-positive steady partner with a detectable viral load) and low-risk HIV exposure days (consistent condom use or condomless anal intercourse with a steady partner who is HIV-negative). Over 18 months, lower adherence was demonstrated with event-driven PrEP than with daily PrEP for high-risk days (88% [95% CI, 86%-90%] vs 97.5% [95% CI, 97%-98%]; P < .0001) and also for low-risk days (42% [95% CI, 40%-45%] vs 96% [95% CI, 95%-96%]; P < .0001).⁶ Researchers diagnosed no new HIV infections in any participant, and the incidence of STIs was the same in both groups.

A third open-label trial evaluated adherence among 178 South African women randomized to event-driven or daily PrEP and found lower sexual event coverage with event-driven PrEP (52% vs 75%; odds ratio = 2.76; 95% CI, 1.68-4.53; P < 0.0006). Four women in each group seroconverted to HIV positive.⁷

Drug costs, patient preferences, and STI risk are important considerations

Several of the above trials reported use of fewer pills in the event-driven groups, with lower drug costs.^2,5,7 A large prospective cohort trial of men who have sex with men (N = 1049) with an average of 10 sexual partners found that most (76%) opted for event-driven PrEP.⁸ Researchers also reported no difference in STI rates (RR = 1.24 for “at least 1 bacterial STI”; 95% CI, 0.84 to 1.81).⁸ However, a smaller, open-label prospective cohort trial (N = 200) found that more participants chose daily PrEP than event-driven PrEP (76.5% vs 23.5%), although almost all said they would change their dosing regimen in the next year.⁹

Recommendations from others

In 2019, the World Health Organization recommended oral PrEP as an additional prevention choice for people at substantial risk for HIV infection and stated that different dosing strategies offer users flexibility, choice, and convenience.¹⁰ Also in 2019, the US Preventive Services Task Force published a recommendation that clinicians offer PrEP with effective antiretroviral therapy to patients at high risk for HIV acquisition. They did not specify which regimen to offer.¹¹

Editor’s takeaway

While there are theoretical reasons why event-driven PrEP might not work as well as daily PrEP, we have 1 RCT that suggests the real-world outcomes are similar. Given the apparent effectiveness of either option, the best choice is the one the patient will use. JFP

EVIDENCE SUMMARY

Event-driven PrEP is effective for prevention of HIV transmission

An RCT evaluating the effectiveness of event-driven PrEP in 400 patients at high risk for HIV found that it reduced HIV incidence by 86% compared to placebo. Researchers recruited HIV-negative men or transgender women who had sex with men, who’d had condomless anal sex with at least 2 partners in the previous 6 months, and followed them for a median of 9.3 months for HIV acquisition.¹

Patients randomized to ­event-driven PrEP took tenofovir-emtricitabine (300-200 mg) on the following schedule: 2 pills 2 to 24 hours before intercourse (or 1 pill if they had taken it within the past week), followed by a third pill 24 hours later, and a fourth pill 24 hours after that. When patients had multiple consecutive episodes of intercourse, daily use was continued until 2 days after the last episode. Patients in the control group took placebo pills.¹

Event-driven PrEP reduced HIV incidence vs placebo (2 infections vs 14 infections; 0.91 vs 6.6 per 100 person-years; relative risk [RR] = 0.86; P = .002). PrEP produced more gastrointestinal (14% vs 5%; P = .002) and renal (18% vs 10%; P = .03) adverse effects than placebo. Participants took a median of 15 pills per month.¹

A post-hoc analysis of the above study, evaluating 270 patients, found that event-driven PrEP reduced HIV incidence by 100% during periods of less frequent sexual encounters. Selected participants had a median of 5 sexual encounters per month (range, 2-10), used a median of 9.5 pills per month (range, 6-13), and represented 134 person-years of follow-up. No HIV infections (0 per 100 person-years; 95% CI, 0-5; P = .013) were diagnosed in the PrEP group and 6 HIV infections (9.2 per 100 person-years; 95% CI, 3.4-20.1) were diagnosed in the placebo group, with a relative reduction of HIV incidence of 100% (95% CI, 39-100).²

For comparison, 2 large open-label trials evaluating daily PrEP found that it reduced HIV incidence by 44%³ and 86%⁴ vs placebo.

In 2019, the USPSTF published a recommendation that clinicians offer PrEP with effective antiretroviral therapy to patients at high risk for HIV acquisition.

Adherence is better with daily PrEPthan event-driven PrEP

Three prospective cohort trials evaluated PrEP adherence (extent that participants were taking PrEP at the time of sexual encounters) with different dosing regimens and found that event-driven PrEP tended to have lower adherence than daily PrEP. An open-­label trial in Bangkok and Harlem (New York City) randomized 357 at-risk patients to 1 of 3 regimens: event-driven (1 tablet before and after sex), time-driven (1 tablet twice weekly with a postsex dose), and daily. Overall, patients with event-driven PrEP had lower adherence than those with daily PrEP (67% event-driven vs 97% daily; P < 0.0001).⁵

Continue to: In an open-label...

In an open-label prospective cohort trial in Belgium, at-risk patients chose between using event-driven (N = 44) and daily (N = 135) PrEP. Analysis was conducted for both high-risk HIV exposure days (defined as condomless anal receptive intercourse with a new or HIV-positive steady partner with a detectable viral load) and low-risk HIV exposure days (consistent condom use or condomless anal intercourse with a steady partner who is HIV-negative). Over 18 months, lower adherence was demonstrated with event-driven PrEP than with daily PrEP for high-risk days (88% [95% CI, 86%-90%] vs 97.5% [95% CI, 97%-98%]; P < .0001) and also for low-risk days (42% [95% CI, 40%-45%] vs 96% [95% CI, 95%-96%]; P < .0001).⁶ Researchers diagnosed no new HIV infections in any participant, and the incidence of STIs was the same in both groups.

A third open-label trial evaluated adherence among 178 South African women randomized to event-driven or daily PrEP and found lower sexual event coverage with event-driven PrEP (52% vs 75%; odds ratio = 2.76; 95% CI, 1.68-4.53; P < 0.0006). Four women in each group seroconverted to HIV positive.⁷

Drug costs, patient preferences, and STI risk are important considerations

Several of the above trials reported use of fewer pills in the event-driven groups, with lower drug costs.^2,5,7 A large prospective cohort trial of men who have sex with men (N = 1049) with an average of 10 sexual partners found that most (76%) opted for event-driven PrEP.⁸ Researchers also reported no difference in STI rates (RR = 1.24 for “at least 1 bacterial STI”; 95% CI, 0.84 to 1.81).⁸ However, a smaller, open-label prospective cohort trial (N = 200) found that more participants chose daily PrEP than event-driven PrEP (76.5% vs 23.5%), although almost all said they would change their dosing regimen in the next year.⁹

Recommendations from others

In 2019, the World Health Organization recommended oral PrEP as an additional prevention choice for people at substantial risk for HIV infection and stated that different dosing strategies offer users flexibility, choice, and convenience.¹⁰ Also in 2019, the US Preventive Services Task Force published a recommendation that clinicians offer PrEP with effective antiretroviral therapy to patients at high risk for HIV acquisition. They did not specify which regimen to offer.¹¹

Editor’s takeaway

While there are theoretical reasons why event-driven PrEP might not work as well as daily PrEP, we have 1 RCT that suggests the real-world outcomes are similar. Given the apparent effectiveness of either option, the best choice is the one the patient will use. JFP

THE CASE

A 5-year-old previously healthy white boy presented to clinic with bilateral calf pain and refusal to bear weight since awakening that morning. Associated symptoms included a 3-day history of generalized fatigue, subjective fevers, cough, congestion, and rhinitis. The night prior to presentation, he showed no symptoms of gait abnormalities, muscle pain, or weakness. There was no history of similar symptoms, trauma, overexertion, foreign travel, or family history of musculoskeletal disease. He was fully immunized, except for the annual influenza vaccine. He was not taking any medications. This case occurred before the onset of the COVID-19 pandemic.

Objective findings included fever of 101 °F, refusal to bear weight, and symmetrical bilateral tenderness to palpation of the gastrocnemius-soleus complex. Pain was elicited with passive dorsiflexion. There was no erythema, edema, or sensory deficits, and the distal leg compartments were soft. There was normal range of motion of the hips, knees, and ankles. Dorsalis pedis pulses were 2+, and patella reflexes were 2/4 bilaterally.

Lab results included a white blood cell count of 2500/μL (normal range, 4500 to 11,000/μL);absolute neutrophil count, 900/μL (1500 to 8000/μL); platelet count, 131,000/μL (150,000 to 450,000/μL); creatine kinase level, 869 IU/L (22 to 198 U/L); and aspartate aminotransferase level, 116 U/L (8 to 33 U/L). A rapid influenza swab was positive for influenza B. Plain films of the bilateral hips and lower extremities were unremarkable. C-reactive protein (CRP) level, urinalysis, and renal function tests were within normal limits. Creatine kinase (CK) level peaked (1935 U/L; normal range, 22 to 198 U/L) within the first 24 hours of presentation and then trended down.

The Diagnosis

The patient’s sudden onset of symmetrical bilateral calf pain in the setting of an upper respiratory tract infection was extremely suspicious for benign acute childhood myositis (BACM). Lab work and radiologic evaluation were performed to rule out more ominous causes of refusal to bear weight. The suspicion of BACM was further validated by influenza B serology, an elevated CK, and a normal CRP.

While several infectious etiologies have been linked to benign acute childhood myositis, influenza B has the greatest association.

Discussion

BACM was first described by Lundberg in 1957.¹ The overall incidence and prevalence are unclear.² A viral prodrome involving rhinorrhea, low-grade fever, sore throat, cough, and malaise typically precedes bilateral calf pain by 3 days.^2-4 Myositis symptoms typically last for 4 days.³ While several infectious etiologies have been linked to this condition, influenza B has the greatest association.^5,6

 ❚ Patient population. BACM occurs predominately in school-aged children (6-8 years old) and has a male-to-female ratio of 2:1.^3,5,6 In a retrospective study of 219 children, BACM was strongly associated with male gender and ages 6 to 9 years.³ In another retrospective study of 54 children,80% of patients were male, and the mean age was 7.3 years.⁵

❚ Key symptoms and differential. The distinguishing feature of BACM is bilateral symmetric gastrocnemius-soleus tenderness.^2,4 Additionally, the lack of neurologic symptoms is an important differentiator, as long as refusal to bear weight is not mistaken for weakness.⁶ These features help to distinguish BACM from other items in the differential, including trauma, Guillain-Barre syndrome, osteomyelitis, malignancy, deep vein thrombosis, and inherited musculoskeletal disorders.²