The American Academy of Pediatrics (AAP) recently published guidelines for surveillance and screening at well-child visits. Surveillance is a procedure for recognizing children at risk for a developmental disorder and involves asking parents if they have concerns about their child’s development. The PEDS (Pediatric Evaluation of Developmental Status) can be used for this purpose. Screening involves use of a standardized tool to clarify identified risk. An evaluation would be done by a specialist and would involve a more definitive evaluation of a child’s development.
Surveillance should occur at all well-child visits. Screening of development should occur at 9, 18, and 30 months. Because a 30-month visit is not part of the standard well-child visit schedule and may not be reimbursed, screening may occur at 24 months instead. It is also recommended that autism-specific screening should occur at the 18-month visit. Although an autism-specific screen was only recommended at the 18-month visit in the AAP guidelines, the Autism Workgroup of the AAP separately recommended a second autism-specific screen at 24–30 months in order to pick up children missed at the 18-month screen. Because the average age of regression in children with autism is 16–20 months, some children may be missed by a single screen at 18 months. In 2016, the US Preventative Services Task Force Recommendation Statement for screening for autism in young children for whom no concerns had been raised concluded that there was insufficient evidence to recommend for or against screening. They commented on the lack of evidence but did not suggest that screening should not occur. Clinicians should keep in mind that if they are administering a screen because they are concerned and the child passes the screen, they should still schedule an early follow-up visit to ensure that appropriate progress has been made and that there are no further concerns.
Implementation of screening requires planning for timing of screening administration during office visits, defining the process for referral, and designing handouts prior to beginning screening. Screening is done to optimize the child’s development. However, it also demonstrates to the parent the interest their care provider has not only for the child’s physical well-being but also for the child’s developmental and psychosocial well-being. Parents of children who receive a developmental assessment express greater satisfaction with their care provider.
The Child Health and Development Interactive System (CHADIS) is an online system that allows parents and teachers to complete screening questionnaires online prior to the visit. It supports billing for 96110 screening assessments and complex visits, and provides quality assurance documentation.
American Academy of Pediatrics: Identifying infants and young children with developmental disorders in the medical home: an algorithm for developmental surveillance and screening. Pediatrics 2006;118:405
Committee on Practice and Ambulatory Medicine; Bright Futures Periodicity Schedule Workgroup: 2016 Recommendations for preventive pediatric health care. Pediatrics 2016;137(1):1–3.
D: Ages and Stages Questionnaires, 3rd ed. Baltimore, MD: Brookes Publishing, 2009.
Developmental disorders include abnormalities in one or more aspects of development, such as verbal, motor, visual-spatial, attention, and social abilities. Problems with development are often noted by parents when a child does not meet typical motor and language milestones. Developmental disorders may also include difficulties with behavior or attention. ADHD is the most common neurodevelopmental disorder. ADHD occurs in 2%–10% of school-aged children and may occur in combination with a variety of other learning or developmental issues. Mild developmental disorders are often not noted until the child is of school age.
Many biological and psychosocial factors influence a child’s performance on developmental tests. In the assessment of the child, it is important to document adverse psychosocial factors, such as neglect or poverty, which can negatively influence developmental progress. Many of the biological factors that influence development are genetic.
The diagnostic criteria for developmental disorders are found in the DSM-5. The term mental retardation has been replaced by intellectual disability (ID). The diagnostic criteria for ASDs changed dramatically in DSM-5 with some changes in the criteria for ADHD. There are also subtle changes to communication disorders, specific learning disorder, and motor disorders. These can be found at the following website: https://www.psychiatry.org/psychiatrists/practice/dsm.
The neurodevelopmental evaluation must focus on (1) defining the child’s level of developmental abilities in a variety of domains, including language, motor, visual-spatial, attention, and social abilities; (2) attempting to determine the etiology of the child’s developmental delays; and (3) planning a treatment program. These objectives are ideally achieved by a multidisciplinary team that may include a physician, a psychologist, a speech or language therapist, an occupational therapist, and an educational specialist. This type of evaluation is ideal but not always readily available.
Medical & Neurodevelopmental Examination
The medical history should include the pregnancy, labor, and delivery to identify conditions that might compromise the child’s CNS function. The physician must ask the child’s parents about prenatal exposures to toxins, medications, alcohol, drugs, smoking, and infections; maternal chronic illness; complications of pregnancy or delivery; and neonatal course. Problems such as poor weight gain, chronic illnesses, hospitalizations, and maltreatment can interfere with typical development. Major illnesses or hospitalizations should be discussed. Any CNS problems, such as trauma, infection, or encephalitis, should be documented. The presence of metabolic diseases and exposure to environmental toxins such as lead should be determined. Chronic diseases such as chronic otitis media, hyper- or hypothyroidism, and chronic renal failure can impact typical development. The presence of motor or vocal tics, seizures, gastrointestinal, or sleep disturbances should be documented. In addition, parents should be questioned about any motor, cognitive, or behavioral regression.
The physician should review and document the child’s developmental milestones. The physician should also review temperament, difficulties with sleep or feeding, tantrums, poor attention, impulsivity, hyperactivity, anxiety/fears, and aggression. When asking questions about problematic behaviors, it is important to have the parent describe the behavior including frequency and duration. It is also important to try to determine triggers of the behavior and consequences or potential reinforcers of the behavior (ABC—antecedent/behavior/consequence).
A detailed history of school-related events should be recorded, including previous special education support, evaluations through the school, history of repeating grades, difficulties with specific academic areas, problems with peers, and the teacher’s impressions of the child’s difficulties, particularly related to problems with attention, impulsivity, or hyperactivity. Input from teachers can be invaluable and should be sought prior to the evaluation.
An important aspect of the medical history is a detailed family history of emotional or behavioral problems, learning disabilities, ID, or psychiatric disorders. Parental learning strengths and weaknesses, temperament difficulties, or attentional problems may be passed on to the child. For instance, dyslexia is often inherited.
The neurodevelopmental examination should include a careful assessment of dysmorphic features such as epicanthal folds, palpebral fissure size, shape and length of the philtrum, low-set or posteriorly rotated ears, prominent ear pinnae, unusual dermatoglyphics (eg, a single transverse palmar crease), hyperextensibility of the joints, syndactyly, clinodactyly, or other anomalies. A detailed physical and neurologic examination needs to be carried out with an emphasis on both soft and hard neurologic findings. Soft signs can include motor incoordination, which can be related to handwriting problems and academic delays in written language or drawing. Visual-motor coordination abilities can be assessed by having the child write, copy shapes and designs, or draw a person.
The child’s growth parameters, including height, weight, and head circumference, need to be assessed. Normal hearing and visual acuity should be documented or evaluated. Cranial nerve abnormalities and oral-motor coordination problems need to be noted. The examiner should watch closely for motor or vocal tics. Both fine and gross motor abilities should be assessed. Tandem gait, ability to balance on one foot, and coordinating a skip should be evaluated based on age. Tremors can be noted when watching a child stack blocks or draw.
The developmental aspects of the examination can include an assessment of auditory processing and perceptual ability with simple tasks, such as two- to fivefold directions, assessing right and left directionality, memory for a series of spoken words or digit span, and comprehension of a graded paragraph. In assessing expressive language abilities, the examiner should look for difficulties with word retrieval, formulation, articulation, and adequacy of vocabulary. Visual-perceptual abilities can be assessed by simple visual memory tasks, puzzles, or object assembly, and evaluating the child’s ability to decode words or organize math problems. Visual-motor integration and coordination can be assessed again with handwriting, design copying, and drawing a person. Throughout the assessment, the clinician should pay special attention to the child’s ability to focus attention and concentrate, and to other aspects of behavior or affect, such as evidence of depression or anxiety.
Additional questionnaires and checklists—such as the Child Behavior Checklist by Achenbach; ADHD scales such as the Conners’ Parent/Teacher Rating Scale; Vanderbilt ADHD Diagnostic Parent/Teacher Rating Scales; and the Swanson, Nolan, and Pelham Questionnaire-IV—can be used to help with this assessment.
Referral of family to community resources is critical, as is a medical home (described earlier in this chapter).
American Academy of Pediatrics Council on Children With Disabilities: Care coordination in the medical home: integrating health and related systems of care for children with special health care needs. Pediatrics 2005;116:1238
SM (eds): Developmental and Behavioral Pediatrics. Elk Grove Village, IL: American Academy of Pediatrics, 2011.
ADHD is a common neurodevelopmental disorder that may affect about 7%–8% of children and 2.5% of adults. It is associated with a triad of symptoms: impulsivity, inattention, and hyperactivity. DSM-5 describes three ADHD subtypes: hyperactive-impulsive, inattentive, and combined. To be classified according to one or another of these subtypes, the child must exhibit six or more of the symptoms listed in Table 3–3. DSM-5 include the same 18 symptoms, 2 symptom domains, and require 6 symptoms from each domain for children younger than 17. DSM-5 includes the following changes: Criteria will address symptoms across the lifespan, symptoms causing the impairment will need to be present prior to age 12 instead of age 7, and some symptoms will need to be present across more than one setting. Overall there are significant challenges in academic functioning and social interactions. A diagnosis will be allowed in children with ASD, and symptom thresholds will be lower in adolescents 17 and older and in adults (only five symptoms required from each category).
Table 3–3.Attention-deficit/hyperactivity disorder. ||Download (.pdf) Table 3–3.Attention-deficit/hyperactivity disorder.
A persistent pattern of inattention and/or hyperactivity-impulsivity that interferes with functioning or development, as characterized by (1) and/or (2):
Inattention: Six (or more) of the following symptoms have persisted for at least 6 months to a degree that is inconsistent with developmental level and that negatively impacts directly on social and academic/occupational activities.
Note: The symptoms are not solely a manifestation of oppositional behavior, defiance, hostility, or failure to understand tasks or instructions. For older adolescents and adults (age ≥ 17), at least five symptoms are required.
Often fails to pay close attention to details or makes careless mistakes in schoolwork, at work, or during other activities (eg, overlooks or misses details, work is inaccurate).
Often has difficulty sustaining attention in tasks or play activities (eg, has difficulty remaining focused during lectures, conversations, or lengthy reading).
Often does not seem to listen when spoken to directly (eg, mind seems elsewhere, even in the absence of any obvious distraction).
Often does not follow through on instructions and fails to finish schoolwork, chores, or duties in the workplace (eg, starts tasks but quickly loses focus and is easily sidetracked).
Often has difficulty organizing tasks and activities (eg, difficulty managing sequential tasks; difficulty keeping materials and belongings in order; messy, disorganized work; has poor time management; fails to meet deadlines).
Often avoids, dislikes, or is reluctant to engage in tasks that require sustained mental effort (eg, schoolwork or homework; for older adolescents and adults, preparing reports, completing forms, reviewing lengthy papers).
Often loses things necessary for tasks or activities (eg, school materials, pencils, books, tools, wallets, keys, paperwork, eyeglasses, mobile telephones).
Is often easily distracted by extraneous stimuli (for older adolescents and adults, may include unrelated thoughts).
Is often forgetful in daily activities (eg, doing chores, running errands; for older adolescents and adults, returning calls, paying bills, keeping appointments).
Hyperactivity and impulsivity: Six (or more) of the following symptoms have persisted for at least 6 months to a degree that is inconsistent with developmental level and that negatively impacts directly on social and academic/occupational activities:
Note: The symptoms are not solely a manifestation of oppositional behavior, defiance, hostility, or a failure to understand tasks or instructions. For older adolescents and adults (age ≥ 17), at least five symptoms are required.
Often fidgets with or taps hands or feet or squirms in seat.
Often leaves seat in situations when remaining seated is expected (eg, leaves his or her place in the classroom, in the office or other workplace, or in other situations that require remaining in place).
Often runs about or climbs in situations where it is inappropriate. (Note: In adolescents or adults, may be limited to feeling restless.)
Often unable to play or engage in leisure activities quietly.
Is often “on the go,” acting as if “driven by a motor” (eg, is unable to be or uncomfortable being still for extended time, as in restaurants, meetings; may be experienced by others as being restless or difficult to keep up with).
Often talks excessively.
Often blurts out an answer before a question has been completed (eg, completes people’s sentences; cannot wait for turn in conversation).
Often has difficulty waiting his or her turn (eg, while waiting in line).
Often interrupts or intrudes on others (eg, butts into conversations, games, or activities; may start using other people’s things without asking or receiving permission; for adolescents and adults, may intrude into or take over what others are doing).
Several inattentive or hyperactive-impulsive symptoms were present prior to age 12 years.
Several inattentive or hyperactive-impulsive symptoms are present in two or more settings (eg, at home, school, or work; with friends or relatives; in other activities).
There is clear evidence that the symptoms interfere with, or reduce the quality of, social, academic, or occupational functioning.
The symptoms do not occur exclusively during the course of schizophrenia or another psychotic disorder and are not better explained by another mental disorder (eg, mood disorder, anxiety disorder, dissociative disorder, personality disorder, substance intoxication or withdrawal).
The majority of children with ADHD have a combined type with symptoms of inattention as well as hyperactivity and impulsivity. Girls have a higher prevalence of the inattentive subtype; boys have a higher prevalence of the hyperactive subtype. Although symptoms begin in early childhood, they can diminish between ages 10 and 25 years. Hyperactivity declines more quickly, and impulsivity and inattentiveness often persist into adolescence and adulthood. ADHD may be combined with other psychiatric conditions, such as mood disorder in approximately 20% of patients, conduct disorders in 20%, and oppositional defiant disorder in up to 40%. Up to 25% of children with ADHD seen in a referral clinic have tics or Tourette syndrome. Conversely, well over 50% of individuals with Tourette syndrome also have ADHD.
ADHD has a substantial genetic component. Several candidate genes have been identified but only explain a small part of the variance, although there is strong evidence that ADHD is a disorder involving multiple genes. ADHD is also associated with a variety of genetic disorders including fragile X syndrome, Williams syndrome, Angelman syndrome, XXY syndrome (Klinefelter syndrome), and Turner syndrome. Fetal alcohol syndrome (FAS) is also strongly associated with ADHD. CNS trauma, CNS infections, prematurity, and a difficult neonatal course with brain injury can also be associated with later ADHD. Metabolic problems such as hyperthyroidism can sometimes cause ADHD. These organic causes of ADHD should be considered in the evaluation of any child presenting with attentional problems, hyperactivity, or impulsivity. Particularly inattention can occur with obstructive sleep apnea. However, in the majority of children who have ADHD, the cause remains unknown.
The treatment of ADHD varies depending on the complexity of the individual case, including comorbid disorders such as anxiety, sleep disorders, and learning disabilities. It is important to educate the family regarding the symptoms of ADHD and to clarify that it is a neurologic disorder which makes the symptoms difficult for the child to control. Despite that, behavior modification techniques usually help these children and should include structure with consistency in daily routine, positive reinforcement whenever possible, and time-out for negative behaviors. A variety of educational interventions can be helpful, including preferential seating in the classroom, a system of consistent positive behavior reinforcement, consistent structure, the repetition of information when needed, and the use of instruction that incorporates both visual and auditory modalities. Many children with ADHD have significant social difficulties, and social skills training can be helpful. Individual counseling is beneficial in alleviating poor self-esteem, oppositional behavior, and conduct problems.
Stimulant medications (methylphenidate, dextroamphetamine, mixed amphetamine, and lisdexamfetamine) are available in short- and long-acting preparations and in tablet, capsule, liquid, and dermal patch forms. Alternative medications for the treatment of ADHD include extended-release clonidine or guanfacine, which are α2-adrenergic presynaptic agonists. Atomoxetine, which is a norepinephrine reuptake inhibitor, has also been used as a second-line medication or as an adjunct treatment with the stimulants It should be noted that the stimulants are rapidly acting while atomoxetine takes more time for there to be an effect (ie, 2–4 weeks). It is most important that no matter what medication is used, the diagnosis is correct and the correct dosage is prescribed. A recent study has demonstrated that one of the major factors contributing to treatment failure is inadequate dosing or the failure to recognize the presence of comorbid conditions such as learning disability, anxiety disorders, and depression.
Seventy to 90% of children with normal intellectual abilities respond well to stimulant medications. Stimulants enhance both dopamine and norepinephrine neurotransmission, which seems to improve impulse control, attention, and hyperactivity. The main side effects of methylphenidate and dextroamphetamine include appetite suppression and resulting weight loss, as well as sleep disturbances. Atomoxetine is a selective inhibitor of the presynaptic norepinephrine transporter, which increases norepinephrine and dopamine, and has a similar side-effect profile to the stimulants as well as side effects associated with antidepressants. Some individuals experience increased anxiety, particularly with higher doses of stimulant medications. Children with autism and developmental disabilities may be at increased risk for side effects with stimulants. Stimulants may exacerbate psychotic symptoms. They may also exacerbate motor tics in 30% of patients, but in 10% motor tics may be improved.
Cardiovascular effects of stimulant medications have undergone significant scrutiny over the past several years and do not appear to increase the risk of sudden death over the risk in the general population, especially in children without any underlying risk. Prior to beginning a stimulant medication, it is recommended that clinicians obtain any history of syncope, palpitations, chest pain, and family history of sudden death prior to age 30 that may predispose a child to sudden death. Stimulant products and atomoxetine should generally not be used in patients with serious heart problems or in those for whom an increase in BP or HR would be problematic. Consultation with the child’s cardiologist would be indicated prior to making a decision about stimulant use. The US Food and Drug Administration (FDA) includes this statement in the labeling of stimulants: “sudden death has been reported in association with CNS stimulant treatment at usual doses in children and adolescents with structural cardiac abnormalities or other serious heart problems.” The FDA has recommended that patients treated with ADHD medications should be monitored for changes in HR or BP.
Diagnostic and Statistical Manual of Mental Disorders. 5th Edition, American Psychiatric Association, 2013.
MI: Attention-deficit hyperactivity disorder in children and adolescents. New Eng J Med 2014;370:838–846
MI: ADHD: What Every Parent Needs to Know. Elk Grove Village, IL: American Academy of Pediatrics, 2011.
et al: Subcommittee on Attention-Deficit/Hyperactivity Disorder; Steering Committee on Quality Improvement and Management: ADHD: clinical practice guideline for the diagnosis, evaluation, and treatment of attention-deficit/hyperactivity disorder in children and adolescents. Pediatrics 2011;128(5):1007–1022
AUTISM SPECTRUM DISORDERS
ESSENTIALS OF DIAGNOSIS & TYPICAL FEATURES
Two core features:
Persistent deficits in social communication and social interaction across multiple contexts.
Restricted, repetitive patterns of behavior, interests, or activities.
Autism spectrum disorder (ASD) is a neurologic disorder characterized by (1) persistent deficits in social communication and social interaction across multiple contexts and (2) restricted, repetitive patterns of behavior, interests, or activities. Autism was grouped under the pervasive developmental disorders in the DSM-IV with Asperger disorder, pervasive developmental disorder not otherwise specified, childhood disintegrative disorder (CDD), and Rett syndrome. DSM-5 combines autism, PDD, and Asperger syndrome into ASDs. Table 3–4 lists the DSM-5 criteria for diagnosis of an ASD. DSM-IV stipulated that the typical features or signs should be present prior to 3 years of age. DSM-5 now uses a caveat that the typical features or signs may not be present until social demands become greater and may be difficult to recognize in an individual who has learned compensatory strategies. As with any disorder, the typical features or signs must cause “clinically significant impairment” in function. As ASD and ID may be diagnosed in the same individual, social communication function should be impaired in comparison to the individual’s “general developmental level.” Severity is now specified as level I: “requiring support,” level II: “requiring substantial support,” and level III: “requiring very substantial support.”
Table 3–4.Autism spectrum disorder. ||Download (.pdf) Table 3–4.Autism spectrum disorder.
Persistent deficits in social communication and social interaction across multiple contexts, as manifested by the following, currently or by history (examples are illustrative, not exhaustive; see text):
Deficits in social-emotional reciprocity, ranging, eg, from abnormal social approach and failure of normal back-and-forth conversation; to reduced sharing of interests, emotions, or affect; to failure to initiate or respond to social interactions.
Deficits in nonverbal communicative behaviors used for social interaction, ranging, eg, from poorly integrated verbal and nonverbal communication; to abnormalities in eye contact and body language or deficits in understanding and use of gestures; to a total lack of facial expressions and nonverbal communication.
Deficits in developing, maintaining, and understanding relationships, ranging, eg, from difficulties adjusting behavior to suit various social contexts; to difficulties in sharing imaginative play or in making friends; to absence of interest in peers.
Specify current severity:
Severity is based on social communication impairments and restricted, repetitive patterns of behavior.
Restricted, repetitive patterns of behavior, interests, or activities, as manifested by at least two of the following, currently or by history (examples are illustrative, not exhaustive; see text):
Stereotyped or repetitive motor movements, use of objects, or speech (eg, simple motor stereotypies, lining up toys or flipping objects, echolalia, idiosyncratic phrases).
Insistence on sameness, inflexible adherence to routines, or ritualized patterns of verbal or nonverbal behavior (eg, extreme distress at small changes, difficulties with transitions, rigid thinking patterns, greeting rituals, need to take same route or eat same food every day).
Highly restricted, fixated interests that are abnormal in intensity or focus (eg, strong attachment to or preoccupation with unusual objects, excessively circumscribed or perseverative interests).
Hyper- or hyporeactivity to sensory input or unusual interest in sensory aspects of the environment (eg, apparent indifference to pain/temperature, adverse response to specific sounds or textures, excessive smelling or touching of objects, visual fascination with lights or movement).
Specify current severity:
Severity is based on social communication impairments and restricted, repetitive patterns of behavior.
Symptoms must be present in the early developmental period (but may not become fully manifest until social demands exceed limited capacities, or may be masked by learned strategies in later life).
Symptoms cause clinically significant impairment in social, occupational, or other important areas of current functioning.
These disturbances are not better explained by intellectual disability (intellectual developmental disorder) or global developmental delay Intellectual disability and autism spectrum disorder frequently co-occur; to make comorbid diagnoses of autism spectrum disorder and intellectual disability, social communication should be below that expected for general developmental level.
ASDs are relatively common, occurring in approximately 1 in 68 children based on surveillance data from the CDC in 2012. Males are overrepresented by about 4.5:1. About 32% of children with ASD also have an ID, and the prevalence of ID is higher in girls (37%) than in boys (31%). An etiology can be found in 6%–15% of children with ASD, or up to 30%–40% who have had a “thorough clinical genetics evaluation” or have “complex autism” the term used for children with co-occurring microcephaly, seizures, dysmorphic features, or major congenital anomalies. This percentage may increase as newer techniques such as whole-exome sequencing become more widely used. There is a strong familial component. Parents of one child with autism of unknown etiology have a 7%–23% chance of having a second child with autism. The prevalence is higher if the second child is male or the affected child is female. The concordance rate among monozygotic twins is high but not absolute, and there is an increased incidence of speech, language, reading, attention, and affective disorders in family members of children with autism. The genetics of ASD are complex and inheritance patterns appear to be multifactorial. ASD is a heterogeneous disorder for which single gene disorders are not commonly found. As many as 800 susceptibility genes have been identified. These genes often have variable penetrance and expression, as well as “pleiotropy” (one genotype associated with different disorders such as one copy number variant associated with ASD, seizures, or schizophrenia). In addition epigenetics, gene-gene interactions, and gene-environment interactions may also play a role.
Children with ASD are often not diagnosed until age 3–4 years, when their disturbances in reciprocal social interaction and communication become more apparent. However, impairments in communication and behavior can often be recognized in the first 12–18 months of life. The most common early characteristics are a consistent failure to orient to one’s name, regard people directly, use gestures, and to develop speech. Even if one of these skills is present, it is often diminished in frequency, inconsistent, or fleeting. Sharing affect or enjoyment is an important precursor to social interaction. By 16–18 months a child should have “joint attention,” which occurs when two people attend to the same thing at the same time. This is usually accomplished by shifting eye gaze, pointing, or saying “look.” Toddlers should regularly point to get needs met (“I want that”) and to show (“look at that”) by 1 year of age. By 18 months a toddler should be able to follow a point, imitate others, and engage in functional play (using toys in the way that they are intended to be used, such as rolling a car, throwing a ball, or feeding a baby doll). Restricted interests and repetitive behaviors sometimes do not emerge until after age 2, but usually are present before age 2.
There is mounting evidence that a diagnosis of ASD can be made reliably by age 2 years and is stable over time. Because there is evidence that early intervention is particularly important for children with ASD, great interest has arisen in developing a screening instrument that can be used in very young children. The Modified Checklist for Autism in Toddlers—Revised with Follow up (M-CHAT-R/F) is designed for children 16–30 months of age. It is a parent report measure with 20 yes/no questions. There are clinician-administered follow-up questions for those who screen positive. Just under 50% of children who screen positive initially (M-CHAT-R/F score ≥ 3) and after follow-up (M-CHAT-R/F score ≥ 2) will go on to be diagnosed with an ASD; however, 95% will have some type of developmental concern. Fewer children screen positive on the initial parent completed screen with the revised version of the M-CHAT. It can be downloaded at https://m-chat.org/about.php.
An autism-specific screen is recommended at 18 and 24–30 months. The second screen is recommended because some of the symptoms may be more obvious in an older child and because about 30% of children with ASD experience a regression or plateau in skills between 12 and 24 months. Screening at 18 months could miss many of these children.
When behaviors raising concern for ASD are noted, the primary care provider should complete a thorough history and examination as discussed in the previous section on developmental disorders and the child should be referred to a team of specialists experienced in the assessment of ASD. At the same time, the child should also be referred to a local early intervention program and to a speech and language pathologist to begin therapy as soon as possible. If the diagnostic features are clearly present, a primary care provider may make a diagnosis of ASD to start autism-specific treatments as soon as possible. All children with ASD should have a formal audiology evaluation. A chromosomal microarray (CMA) and a DNA for fragile X syndrome should be considered first-tier tests in children with ASD. Second-tier tests are beyond the scope of this chapter (see the American College of Medical Genetics and Genomics practice guidelines (2013) or the review article by Yin and Schaaf (2017) for a more detailed discussion). Metabolic screening, lead level, and thyroid studies may also be done if indicated by findings in the history and physical examination. Although more evidence is needed, routine screening for metabolic disorders has been suggested including screening for mitochondrial disorders if there is evidence of an abnormal neurologic examination or lactic acidosis. An evaluation by a clinical geneticist should be offered to every family. A Wood lamp examination for tuberous sclerosis is also recommended. Neuroimaging is not routinely indicated even in the presence of mild/relative macrocephaly because children with autism often have relatively large heads. Neuroimaging should be done if microcephaly or focal neurologic signs are noted.
Approximately 30% of children with ASD demonstrate a plateau or loss of skills (usually only language and/or social skills) between 12 and 24 months of age. This regression/plateau in skills has been documented in prospective longitudinal studies of infant siblings of children with ASD who go on to be diagnosed with ASD. The loss is often gradual. It can co-occur with atypical development and can be fluctuating. It usually occurs before the child attains a vocabulary of 10 words. If a child presents with regression, he or she should be referred to a child neurologist. An overnight EEG should be considered when there is a history of regression to rule out electrical status epilepticus in sleep. Metabolic testing and a magnetic resonance imaging (MRI) of the brain should also be considered when there is a history of regression.
Early, intensive behavioral intervention for children with ASD is essential. The National Research Council reviewed the available literature in 2001 and recommended entry into treatment as soon as autism is suspected; 25 hours of intervention per week; parent training and involvement in treatment; ongoing assessment, program evaluation, and programmatic adjustment as needed; and intervention that focuses on communication, social interaction, and play skills that can be generalized in a naturalistic setting. Functional use of language leads to better behavioral and medical outcomes. Early detection and early intervention have a positive impact on children with ASDs. The National Research Council states: “A substantial subset of children with autistic spectrum disorders are able to make marked progress during the period that they receive intensive early intervention, and nearly all children with autistic spectrum disorders appear to show some benefit. Children with ASD who begin treatment before age 3–3½ years make the greatest gains with intervention.” Naturalistic training models for children with ASD implemented before age 3 result in 90% of children attaining functional use of language compared to 20% who begin intervention after age 5. The Early Start Denver Model (ESDM) is one model for early intervention. In a recent study, 48 children 18–30 months of age were randomly assigned to ESDM for 20 h/wk for 2 years or community intervention. The group that received ESDM improved by a mean of 17.6 standard points on developmental testing (Mullen) versus 7.0 points in the control group. Standard scores for adaptive function were maintained in the ESDM group and decreased in the control group. There are many models for this type of intervention and much variability in what is available in different areas of the country. Families should be encouraged to find a model that best suits the needs of the child and the family.
The primary care provider provides a medical home for children with ASD. This requires coordination of care. One role of the primary care provider is to ensure that medical concerns such as sleep disorders, seizures, or gastrointestinal symptoms are addressed. Any worsening of behavior in a child with autism may be secondary to unrecognized medical issues such as pain from a dental abscess or esophagitis. Practice pathways for primary care providers for management of multiple co-occurring conditions in children with ASD have been developed through the Autism Speaks-Autism Treatment Network. A practice pathway for the identification, evaluation, and management of insomnia in children with ASDs has been developed. The pathway stresses the importance of screening for sleep issues in children with ASD and interviewing around comorbid medical conditions that may impact sleep. Individualizing behavior strategies/sleep hygiene for the child with ASD is also very important. In addition, psychiatric comorbidities such as anxiety and ADHD are common in children with ASD and should be addressed by the PCP or a specialist. Psychopharmacologic management may be needed to address issues with attention, hyperactivity, anxiety, irritability, aggression, and other behaviors that have a significant impact on daily function. Multiple recent reviews of psychopharmacologic treatments are available. A clinical practice pathway for evaluation and medication choice for ADHD symptoms in children with ASD has also been developed. Children with ASD are less likely to respond to stimulants than children with typical development and are more likely to have side effects. Smaller doses and nonstimulants such as guanfacine should be considered especially in children younger than 5 years, children with IQ less than 50–70, severe anxiety, unstable mood, or low weight/poor appetite. A practice pathway for the management of irritability and problem behavior (aggression toward property, self, or others) in children with ASD was published in 2016. The pathway includes evaluation for conditions that may contribute to irritability and problem behavior: medical (sleep problems, medication side effects, and management of pain or discomfort associated with gastrointestinal, dental, or other medical conditions); impairment in ability to communicate; psychiatric (anxiety, depression); environmental stressors (psychosocial, inadequate educational and behavioral supports, change in routine); and unintentional reinforcement (attention, task avoidance, removal from overwhelming sensory stimuli, or tangible reward such as giving a snack to calm the child). A functional behavioral assessment is helpful to determine the antecedent and consequence of the behavior. Reinforcing positive behavior, providing supports in the environment to assist with tolerance of triggers, providing replacement behaviors for negative behaviors, and avoiding reinforcement are strategies to improve behavior. Risperidone and aripiprazole are the only medications that have an FDA indication for treatment of irritability and aggression in children with ASD. The practice pathway recommended consideration of clonidine and N-acetylcysteine prior to atypical antipsychotics when there were no significant safety concerns necessitating urgent use of the medication that is most likely to improve behavior. These medications have limited evidence for safety and efficacy but appear to have fewer long-term side effects. Anxiety is common in children with ASD with approximately 40% having at least one anxiety disorder. Anxiety can be difficult to diagnose in children with ASD due to difficulty with communication and insight/recognition of feelings and due to some overlap with symptoms of ASD. Anxiety in children with ASD can present with irritability/externalizing behaviors and with dysregulation or symptoms that mimic ADHD. A recent review of diagnosis and management of anxiety in children with ASD recommended using feedback from multiple sources such as the child, parent, clinician, therapists, and school personnel when evaluating for the presence of an anxiety disorder. Randomized controlled trials (RCT) for treating anxiety in children with ASD show moderate efficacy with cognitive behavioral therapy. There have been no RCTs for medications to treat anxiety in children with ASD. Selective serotonin reuptake inhibitors (SSRI) may be used but clinicians should start with low doses and increase slowly while monitoring for behavioral activation. Alpha agonists and propranolol can sometimes be helpful as well. Many complementary and alternative (CAM) treatments for autism have been proposed. As many as 33% of families use special diets and 54% of families use supplements for their child with ASD based on data from the Interactive Autism Network. Most have limited evidence regarding safety and efficacy. The review of CAM prepared by the AAP Task Force on Complementary and Alternative Medicine and the Provisional Section on Complementary, Holistic, and Integrative Medicine is particularly valuable.
AAP Autism Tool Kit: Autism: caring for children with autism spectrum disorders: a resource toolkit for clinicians, 2012. www.aap.org/autism
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Learn the Signs, Act Early (website with resources and free handouts for families): www.cdc.gov/actearly
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The field of developmental disabilities has been evolving and redefining the constructs of disability and using new terms to reflect that evolution. The term mental retardation is considered pejorative, demeaning, and dehumanizing; therefore, the term intellectual disability (ID) is used. DSM-5 uses the diagnosis intellectual disability (intellectual developmental disorder) and emphasizes the need for evaluation of adaptive function in addition to cognitive testing (IQ). The term disability is used by professionals and advocacy groups.
Recently, a rethinking of the construct of disability has emerged that shifts the focus from limitations in intellectual functioning and adaptive capability (a person-centered trait) to a human phenomenon with its source in biologic or social factors and contexts. The current view is a social-ecological conception of disability that articulates the role of disease or disorder leading to impairments in structure and function, limitations in activities, and restriction in participation in personal and environmental interactions. The term intellectual disability, which is consistent with this broader view, is increasingly being used and reflects an appreciation of the humanness and potential of the individual. The diagnostic criteria currently remain the same; however, the construct and context has changed.
Having noted this, it is important to acknowledge that significant delays in the development of language, motor skills, attention, abstract reasoning, visual-spatial skills, and academic or vocational achievements are associated with ID. Deficits on standardized testing in cognitive and adaptive functioning greater than two standard deviations below the mean for the population are considered to fall in the range of ID. The most common way of reporting the results of these tests is by using an intelligence quotient. The intelligence quotient is a statistically derived number reflecting the ratio of age-appropriate cognitive function and the child’s actual level of cognitive function. A number of accepted standardized measurement tools, such as the Wechsler Intelligence Scale for Children, fifth edition, can be used to assess these capacities. To receive a diagnosis of ID, a child must not only have an intelligence quotient of less than 70 but must also demonstrate adaptive skills more than two standard deviations below the mean. Adaptive function refers to the child’s ability to function in his or her environment and can be measured by a parent or teacher interview using an instrument such as the Vineland Adaptive Behavior Scales. Cognitive function tends to predict academic success and adaptive function tends to predict level of independence in daily living skills. Levels of severity are based on adaptive function which determines the level of supports needed.
Global Developmental Delay (GDD) is the diagnosis used for children with significant delays in at least two developmental domains (cognitive, speech and language, gross and fine motor, social, and daily living skills). This diagnosis is typically used in children younger than 5 years due to poor predictive validity of cognitive testing prior to age 5–6 years. The diagnosis of GDD is also used in children older than 5 who cannot adequately participate in standardized testing.
The prevalence of ID is approximately 1%–3% in the general population and may vary by age. Mild levels of ID are more common and more likely to have a sociocultural cause than are more severe levels. Poverty, deprivation, or a lack of exposure to a stimulating environment can contribute to developmental delays and poor performance on standardized tests.
Children who present with developmental delays should be evaluated by a team of professionals as described at the beginning of this section. For children 0–3½ years of age, the Bayley Scales of Infant Development, third edition, is a well-standardized developmental test. For children older than 3 years, standardized cognitive testing—such as the Wechsler Preschool and Primary Scale of Intelligence, fourth edition; the Wechsler Intelligence Scale for Children, fifth edition; the Stanford-Binet V; or the Differential Abilities Scale, second edition—should be administered to assess cognitive function over a broad range of abilities, including verbal and nonverbal scales. For the nonverbal patient, a scale such as the Leiter, third edition, will assess skills that do not involve language. A full psychological evaluation in school-aged children should include an emotional assessment if psychiatric or emotional problems are suspected. Such problems are common in children with developmental delays or ID.
The evaluation of a child with ID or GDD should include a complete medical and family history; as well as a physical examination, including head circumference, neurologic examination, dysmorphology examination, and skin examination for neurocutaneous stigmata. Clinicians should also screen for co-occurring conditions such as sleep problems, feeding problems, obesity, gastrointestinal disorders, and behavioral and psychiatric conditions. Families should be offered a genetics evaluation. Expert consensus recommends fragile X molecular genetic testing and CMA as the initial workup for ID/GDD unless the child’s phenotype suggests more targeted testing, as in the case of Down or Williams syndrome. If there is a family history of multiple miscarriages suggesting a possible balanced translocation, a karyotype is recommended in addition to CMA. In children with ID/GDD, CMA will be positive about 6%–10% of the time and Fragile X testing will be positive in about 2%–3%. Families should be counseled about the possibility of CMA finding a copy number variation of unknown clinical relevance or one with clinical relevance unrelated to ID/GDD. A child with an abnormal result should receive genetic counseling from a medical geneticist or certified genetic counselor. Second-tier testing may include nonsyndromic X-linked ID genes and high-density X-CMA in males, and MECP2 deletion, duplication, and sequencing in females. Whole-exome sequencing may also be considered in patients for whom there is a high index of suspicion that a cytogenetic etiology exists but whose workup has been negative. An audiology evaluation should be completed, even if a child passed a hearing evaluation at birth. An ophthalmology examination should also be considered. An EEG should be considered if there are any concerns for seizures or a regression in skills.
Neuroimaging should be considered in patients with microcephaly, macrocephaly, seizures, loss of psychomotor skills, or specific neurologic signs such as spasticity, dystonia, ataxia, or abnormal reflexes. A lead level should be considered in children who frequently put toys or other nonfood items in their mouth. Thyroid function studies should be carried out in any patient who exhibits clinical features associated with hypothyroidism.
Screening for Inborn Errors of Metabolism (IEM) has a relatively low yield (0%–5%) in children who present with developmental delay or ID. Most patients with IEM will be identified by newborn screening or present with specific indications for more focused testing, such as failure to thrive, recurrent unexplained illnesses, plateauing or loss of developmental skills, coarse facial features, cataracts, recurrent coma, abnormal sexual differentiation, arachnodactyly, hepatosplenomegaly, deafness, structural hair abnormalities, muscle tone changes, and skin abnormalities. However, treatable forms of IEMs may present later or without regression or plateau. There are currently 89 “treatable” types of IEM. Treatments may target improvement in symptoms, slowing progression of the disease, or providing support during an illness. While controversy over cost-benefit of screening for rare diseases exists, van Karnebeek et al proposed a two-tiered approach to screening for treatable IEM, which is based on “availability, affordability, yield, and invasiveness.” Tier 1 tests/”nontargeted screening tests” include blood tests for lactate, ammonia, plasma amino acids, total homocysteine, acylcarnitine profile, copper, ceruloplasmin; and urine tests for organic acids, purines and pyrimidines, creatine metabolism, oligosaccharides, and glycosaminoglycans. Testing for 7- and 8-dehydrocholesterol to screen for Smith-Lemli Opitz syndrome and screening for congenital disorders of glycosylation may also be included in first-tier testing. Second-tier testing usually comprises tests that are the only tests for one disease or are more invasive such as tests of cerebrospinal fluid. AAP guidelines for tier 1 tests are somewhat different and include blood tests for plasma amino acids, total homocysteine, acylcarnitine profile; and urine tests for organic acids, purines and pyrimidines, creatine metabolism, oligosaccharides, and mucopolysaccharides. An app has been developed, which is helpful for identifying appropriate tests for treatable etiologies of ID/GDD.
Serial follow-up of patients is important as the physical and behavioral phenotype changes over time and diagnostic testing improves with time. Although cytogenetic testing may have been negative 10 years earlier, advances in high-resolution techniques may now reveal an abnormality that was not identified previously. A stepwise approach to diagnostic testing may also be more cost-effective, so that the test most likely to be positive is done first.
Once a diagnosis of ID is made, treatment should include a combination of individual therapies, such as speech and language therapy, occupational therapy or physical therapy, special education support, behavioral therapy or counseling, and medical intervention, which may include psychopharmacology. To illustrate how these interventions work together, two disorders are described in detail in the next section.
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SPECIFIC FORMS OF INTELLECTUAL DISABILITY & ASSOCIATED TREATMENT ISSUES
The most common inherited cause of intellectual disability (ID) is fragile X syndrome, which is caused by a trinucleotide expansion within the fragile X mental retardation I (FMR1) gene (see Chapter 37). The full mutation is associated with methylation of the gene, which turns off transcription, resulting in a deficiency in the FMR1 protein. This protein regulates the metabotropic glutamate receptor 5. Fragile X syndrome includes a broad range of symptoms. Children with fragile X syndrome often present with developmental delays, social anxiety, hyperactivity, and difficult behavior in early childhood. Most males will have ID with symptoms such as gaze aversion, perseverative language, hand biting, and significant hypersensitivity to environmental stimuli. About 20% of males with fragile X syndrome meet criteria for an ASD. Girls are usually less affected by the syndrome because they have a second X chromosome that produces FMR1 protein. Approximately 30% of girls with the full mutation have cognitive deficits and a greater proportion have ADHD, anxiety, and shyness. Prominent ears; long, thin face; prominent jaw and forehead; joint hyperextensibility; and macroorchidism (in boys) are common; however, approximately 30% of children with fragile X syndrome may not have these features. The diagnosis should be suspected in any child with behavioral problems and developmental delays. As boys move into puberty, macroorchidism becomes more obvious, and facial features can become more elongated. Medical conditions commonly associated with fragile X syndrome include seizures, strabismus, otitis media, gastroesophageal reflux, mitral valve prolapse, and hip dislocation.
A variety of therapies are helpful for individuals with fragile X syndrome. Speech and language therapy can decrease oral hypersensitivity, improve articulation, enhance verbal output and comprehension, and stimulate abstract reasoning skills. Because approximately 10% of boys with the syndrome will be nonverbal at age 5 years, the use of augmentative communication techniques may be helpful. Occupational therapy can be helpful in providing techniques for calming hyperarousal to stimuli and in improving the child’s fine and gross motor coordination and motor planning. If the behavioral problems are severe, it can be helpful to involve a behavioral psychologist who emphasizes positive reinforcement, time-outs, consistency in routine, and the use of both auditory and visual modalities, such as a picture schedule, to help with transitions and new situations.
Psychopharmacology can also be useful to treat ADHD, aggression, anxiety, or severe mood instability. Clonidine or guanfacine may be helpful in low doses to treat hyperarousal, tantrums, or hyperactivity. Stimulant medications such as methylphenidate and dextroamphetamine are usually beneficial by age 5 years and occasionally earlier. Relatively low doses are used because irritability is often a problem with higher doses.
Anxiety may also be a significant problem and the use of a selective serotonin reuptake inhibitor (SSRI) is often helpful. SSRIs may also decrease aggression or moodiness, although in approximately 25% of cases, an increase in agitation or activation may occur. Aggression may become a significant problem in childhood or adolescence for individuals with fragile X syndrome. In addition to behavioral management, medication may be needed. Clonidine, guanfacine, or an SSRI may decrease aggression, and sometimes an atypical antipsychotic may be needed.
Clinical trials have begun in adults and children with fragile X syndrome to evaluate targeted treatments such as metabotropic glutamate receptor 5 antagonists and γ-aminobutyric acid (GABA) agonists. These medications have shown promising results in mouse models of fragile X syndrome.
An important component of management is genetic counseling. Parents should meet with a genetic counselor after the diagnosis of fragile X syndrome is made because there is a high risk that other family members are carriers or may be affected by the syndrome. A detailed family history is essential. Female carriers have a 50% risk of having a child with the fragile X mutation. Male carriers are at risk for developing FXTAS, a neurodegenerative disorder, as they age.
It is also helpful to refer a newly diagnosed family to a parent support group. Educational materials and parent support information may be obtained on the National Fragile X Foundation website.
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2. Fetal Alcohol Spectrum Disorders
Alcohol exposure in utero is associated with a broad spectrum of developmental problems, ranging from learning disabilities to severe ID. Fetal alcohol spectrum disorders (FASD) is an umbrella term describing the range of effects that can occur in an individual exposed to alcohol prenatally. The prevalence of FASD is about 1%–5%. Thus, physicians should always ask about alcohol (and other drug) intake during pregnancy. This is particularly true when evaluating a child presenting with developmental delays. The exact amount of alcohol consumption that leads to teratogenesis remains unclear. Thus, it is best to say that to avoid an FASD, abstention from all alcoholic drinks during pregnancy is essential. Features associated with FASD include facial anomalies, including short palpebral fissures (≤ 10th percentile), thin upper lip, and smooth philtrum (lip/philtrum guide is available for some races/ethniciites); poor prenatal or postnatal growth (height or weight ≤ 10th percentile); CNS abnormalities including poor brain growth (head circumference ≤ 10th percentile), morphogenesis, or neurophysiology (recurrent nonfebrile seizures with no other known etiology); neurobehavioral impairment; and major congenital cardiac, skeletal, renal, ocular, or auditory malformations or dysplasias.
New clinical consensus guidelines for the diagnosis or FASD were published in 2016 by Hoyme et al (Table 3–5). The new guidelines include definitions for prenatal alcohol exposure and neurobehavioral dysfunction, an updated definition of alcohol related birth defects, a dysmorphology rating system, a lip/philtrum guide for North American white population, and an increase in cutoffs for head circumference, growth, and palpebral fissure percentile cutoffs from less than 3% to 10% or less in an effort to increase sensitivity for identifying children with FASD. The guidelines give criteria for Documented Prenatal Alcohol Exposure: six or more drinks per week for 2 weeks or more during the pregnancy; three or more drinks per occasion on two or more occasions during the pregnancy; documented social or legal problems related to alcohol; documented intoxication; positive alcohol-exposure biomarker during pregnancy or at birth such as fatty acid ethyl esters, phosphatidylethanol, or ethyl glucuronide; or increased prenatal risk on a validated screening tool. This does not mean that alcohol use during pregnancy in amounts lower than that guidelines recommend is safe. AAP’s position is that no amount of alcohol during pregnancy is considered safe. The guidelines also recommend that a multidisciplinary team make the diagnosis and that other disorders be considered or ruled out. Disorders with overlapping features include Cornelia deLange, 22q11.2 deletion syndrome, 15q duplication syndrome, Noonan syndrome, Dubowitz syndrome, and exposure to other teratogens such as valproic acid. The dysmorphology rating system was developed to aid in this process. The DSM-5 also added the diagnosis Neurobehavioral Disorder With Prenatal Alcohol Exposure (ND-PAE) while stipulating that more study is indicated.
Table 3–5.Fetal alcohol spectrum disorders (FASD). ||Download (.pdf) Table 3–5.Fetal alcohol spectrum disorders (FASD).
|FASD Diagnoses ||Clinical Features Required ||Confirmed Prenatal Exposure |
|Fetal alcohol syndrome || |
1) At least 2 of 3 specified facial anomaliesa
2) Poor prenatal or postnatal growthb
3) At least 1 CNS abnormalityc
4) Neurobehavioral impairment
|Partial fetal alcohol syndrome (with known exposure) || ||+ |
|Partial fetal alcohol syndrome (without known exposure) || |
1) At least 2 of 3 specified facial anomaliesa
2) Growth deficiency or CNS abnormalityb,c
3) Neurobehavioral impairment
|Alcohol-related neurodevelopmental disorder || |
Neurobehavioral impairment (cannot be made before 3 years of age)
|Alcohol-related birth defects ||One major congenital malformationd ||+ |
Individuals with FASD typically have significant difficulty with complex cognitive tasks and executive function (planning, conceptual set shifting, affective set shifting, response inhibition, and fluency). They process information slowly. They may do well with simple tasks but have difficulty with more complex tasks. They have difficulty with attention and short-term memory. They are also at risk for social difficulties and mood disorders. Functional classroom assessments can be a very helpful part of a complete evaluation. Structure is very important for individuals with FASD. Types of structure that may be helpful are visual structure (color code each content area), environmental structure (keep work area uncluttered, avoid decorations), and task structure (clear beginning, middle, and end). Psychopharmacologic intervention may be needed to address issues such as attention and mood.
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