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PRACTICE GAP
1. Appreciate the evolution in prevalence data over time and recognize the
disparities that exist in diagnosis based on race and sex.
2. Recognize the heterogeneity of autism spectrum disorder (ASD) clinical
presentation depending on the child’s age, sex, and developmental
abilities.
3. Understand the diagnostic criteria for ASD.
AUTHOR DISCLOSURE Dr Long owns
4. Distinguish findings associated with ASD from those of isolated speech and stock in Masimo. Dr Register-Brown has
language delay, intellectual disability, and profound hearing loss. disclosed no financial relationships
relevant to this article. This commentary
5. Determine age-appropriate screening for ASD and be prepared to does not contain a discussion of an
discuss results and next steps with families. unapproved/investigative use of a
commercial product/device.
6. Plan for appropriate management of core symptoms of ASD and identify
the common medical and psychiatric comorbidities with ASD. ABBREVIATIONS
7. Recognize the complexity of care coordination required to support AAP American Academy of
families of children with ASD and the importance of advocating for a Pediatrics
ABA applied behavior analysis
pediatric medical home. ADHD attention-deficit/
hyperactivity disorder
ASD autism spectrum disorder
CBD cannabidiol
EPIDEMIOLOGY CDC Centers for Disease Control
and Prevention
Autism spectrum disorder (ASD) is a neurodevelopmental disability character-
COVID-19 coronavirus disease 2019
ized by differences in social and communication functioning and by restricted DSM-5 Diagnostic and Statistical
and repetitive behaviors and interests. The increasing prevalence of ASD has Manual of Mental Disorders,
Fifth Edition
been the subject of intense attention in the medical literature and lay press. In
EEG electroencephalogram
the United States, the Centers for Disease Control and Prevention (CDC) FDA Food and Drug
Autism and Developmental Disabilities Monitoring Network, which measures Administration
confirmed diagnoses of ASD, has found an increased prevalence of ASD among ID intellectual disability
MCHAT-R/F Modified Checklist for
8-year-old US children from 1 in 150 in 2000 to 2002 to 1 in 54 during 2016. Autism in Toddlers, Revised,
(1) Reasons for the observed increase in ASD prevalence likely include increased with Follow-up
language milestones on time. In elementary Children with ASD may have varying levels of language
school she was a quiet child with good grades ability ranging from mutism to precocious verbal abilities.
who passionately loved cats. Since transitioning Most children diagnosed in the toddler years, however, will
from elementary to middle school, she has had have language delay. Up to 25% of children show regres-
increasing anxiety and low mood. Her teachers sion of language skills, most often between ages 15 and
report that she does not participate in class and 24 months, although the clinical distinction between a
eats by herself at lunch. When she gets home true loss of skills and the dramatic slowing of develop-
she has meltdowns when she is asked to do mental progress can be difficult. (19)(31) Note that al-
homework. She recently disclosed to her moth- though regression in language skills in children
er that she is being bullied at school because diagnosed as having ASD may be common in this early
she is not interested in the same things as the toddler age group, regression is not normal in older chil-
other girls. She finds it very uncomfortable to dren, and those children should be referred for further
wash her hair, and she wears only elastic evaluation. (2)
clothes made of soft fabric. The differential diagnosis of ASD is broad (Table 3).
All 3 of these patients were found to meet the DSM-5 Note that several conditions from Table 3 can co-occur with
criteria for ASD, highlighting the challenges and difficul- ASD (most commonly, language disorder, ID, attention-def-
ties for a pediatrician to learn and apply the diagnostic cri- icit/hyperactivity disorder [ADHD], mood disorder, anxiety,
teria to a developmentally diverse group of patients. It can and obsessive-compulsive disorder), underlining the impor-
be helpful to examine more closely the 2 broad categories tance of a comprehensive evaluation to help delineate
of symptoms—social communication deficits and abnor- whether a child has ASD, another disorder, or both.
mal behavior patterns—and to explore how children of dif-
ferent ages and/or developmental abilities may manifest SCREENING
symptoms in these areas (Table 2). The February 2016 Final Recommendation Statement
Note that although social communication deficits are from the US Preventive Services Task Force concluded
present in all children with ASD, receptive and expressive that there was insufficient evidence to recommend routine
language delays are not included in the diagnostic criteria. ASD screening for children 18 to 30 months old in whom
Pediatrics in Review
• Not following gaze of others • Does not initiate conversation • Difficulty understanding the intent of others (eg,
Social-emotional
• Not responsive to name • One-sided conversation (lacking typical back- takes things literally, misunderstands metaphors
reciprocity
• Not engaging in social games where you and-forth), and typically narrow subject or sarcasm)
take turns (eg, peek-a-boo) matter • Failure to initiate or respond to social
• Not showing or pointing out objects of • Difficulty expressing own feelings and interactions
interest to others understanding others’ feelings
• Not shifting gaze from object to person and • Does not share–either objects or enjoyment
back to object of others
Nonverbal • Poor eye contact • Difficulty understanding body language of • Decreased eye contact
communication • Limited gestures (reaching, giving, pointing, others • Abnormal use or understanding of affect
shaking head ‘no’) • Impaired use or understanding of body • Difficulty integrating nonverbal and verbal
• Using another person’s hand as a tool (eg, posture (eg, facing away during interactions) communication
taking parent’s hand to an object they want) • Dysprosody/abnormal speech (eg, monotone
or sing-song voice)
Relationships • Odd social approach to other children (eg, • Difficulty sharing imaginative play • Difficulty with peer relationships
aggressive) • Motivated to socialize but not able to sustain • Easier time with younger children or adults
• Prefers to play alone (and persisting beyond relationships—difficulty anticipating the • Unable to take another person’s perspective
age 2 years) interests of others • Difficulty adjusting behavior based on changing
• Indiscriminate affection • Difficulty picking up on social cues (eg, does social context
not notice when another person is • Poor understanding of social conventions (eg,
disinterested, laughing inappropriately) greetings, awareness of personal space)
• Withdrawn, aloof
Stereotyped/repetitive • Echolalia • Repetitive speech, sometimes taken from • Idiosyncratic phrases
movements • Flapping hands, rocking body, spinning in movies or books
circles
• Manipulate parts of an object (eg, wheel of
toy car) rather than using it functionally
Inflexible/ritualized • Frequent, prolonged tantrums • Difficulties with transitions
behavior • Extreme distress at small changes • Strong preference for familiar routines (eg, insistence on taking same route to school each day)
• Limited food preferences • Rigid expectation that other children follow the rules
• Always lining up toys in a certain order
rather than playing with them
Fixated/restricted • Attachment to unusual objects (eg, hard • Special interests of abnormal intensity or focus (eg, obsession with facts or extensive collections)
interests objects such as wooden spoons, spinning
objects)
Sensory behavior • Overreactions or underreactions to certain sounds/textures/tastes
• Excessive smelling or touching of objects
• Fascination with flickering lights
no concerns about ASD had been raised. (32) However, (35)(36) The MCHAT-R/F is validated for use in children
despite this, the AAP strongly recommends universal devel- aged 16 to 30 months and is freely available online in multi-
opmental surveillance and use of an ASD-specific screening ple languages. Screening is widely implemented in the Unit-
tool at the 18- and 24-month health supervision visits, in ad- ed States per AAP guidelines, with a recent study finding that
dition to general developmental surveillance at the 9-, 18-, the MCHAT-R/F was used at 80% to 90% of 18- and 24-
and 30-month health supervision visits, because structured month health supervision visits. (37) However, the accuracy
screeners have been shown in subsequent research to increase of the MCHAT-R/F in real-world conditions has recently
the likelihood of early identification of both ASD and other de- been the topic of much debate. A medical record review of
velopmental delays. (2)(33)(34) The dramatic increase in 26,000 primary care visits found that the MCHAT-R/F sensi-
missed health supervision visits during the coronavirus disease tivity was 39% for ASD, and the positive predictive value was
2019 (COVID-19) pandemic raises concerns that many chil- 15% for ASD and 72% for any developmental delay, including
dren may miss these screening opportunities and have subse- ASD. (34) Therefore, for a positive MCHAT-R/F screen, pa-
quent delay in the identification of developmental concerns. rents can be counseled that although there is a low chance of
Although multiple screening tools are available, the most an eventual ASD diagnosis, additional evaluation is indicated
commonly used and widely studied is the Modified Checklist because developmental intervention of some sort is likely
for Autism in Toddlers, Revised, with Follow-up (MCHAT-R/F). warranted. Similarly, for a negative MCHAT-R/F screen,
traditional classroom in a traditional school setting; real risk for children with ASD and may be linked to re-
others may thrive in a specialized school with ASD-spe- petitive and selective eating habits, medication adverse ef-
cific classrooms. fects (eg, antipsychotics), increased sedentary time, and
fewer opportunities for regular exercise. (66) Families and
COMMON COMORBIDITIES therapists/teachers should be encouraged to consider a re-
Comorbid Medical Conditions ward other than food to motivate behavior change, espe-
Children with ASD are at increased risk for comorbid cially for children with elevated body mass index.
medical conditions, including seizure disorder, gastroin- Some final medical considerations for children with
testinal and feeding problems, and sleeping difficulties. ASD include referral to an ophthalmologist for careful and
Although prevalence rates vary widely in the literature, it thorough visual assessment if the child does not make eye
is estimated that up to 25% of children with ASD and con- contact, has stereotypical behaviors that involve the eyes
comitant ID also have epilepsy. (64) A routine screening (eg, eye poking), or shows signs of visual inattentiveness.
EEG is not recommended for all children with ASD, but if (2) Children with pica should have blood tests for elevated
the history is in any way concerning for seizures, the child lead and iron deficiency, and families should be counseled
should be referred to a neurologist for evaluation and con- about reducing risk of toxic or otherwise harmful inges-
sideration of an overnight EEG. (2) tion. And last, families may need extra encouragement
Gastrointestinal symptoms (eg, constipation, diarrhea, and support in accessing routine dental care.
abdominal pain) and feeding issues are reported in up to
75% of children with ASD. Although not specific, differ- Sleep Problems
ences in stooling patterns and food selectivity may be evi- Sleep problems are reported in up to 83% of children with
dent as early as 6 months of age in children who later ASD and can negatively impact behavior, mood, and cognitive
receive a diagnosis of ASD and may, therefore, be among functioning. (67) It is important to work through all of the po-
the earliest signs. (65) It is not known whether there is a tential causes of disrupted sleep, including common causes
specific biological reason linked to ASD that places chil- that are not unique to ASD, such as excessive screen time
dren with ASD at high risk for these symptoms. Certainly, close to bedtime, lack of a consistent calming bedtime rou-
behavioral aspects of the disorder, including resistance to tine, medication adverse effects, and obstructive sleep apnea.
change and sensory issues, may affect feeding behaviors, Comorbid medical conditions such as seizure disorder and
which can, in turn, affect stooling patterns. It is important comorbid psychiatric conditions such as ADHD or mood dis-
to get a complete dietary and nutrition history at all pre- order may also impact sleep. Behavioral approaches have
ventive care visits and to consider evaluation for nutrition- been shown to be very effective in children with ASD and are
al deficiencies as indicated. If food selectivity affects recommended as first-line treatment. Multiple double-blind
nutrition or is severely disruptive for the family, referral to randomized controlled trials have demonstrated efficacy of
a feeding specialist may be considered. Several members melatonin in improving sleep onset latency and sleep dura-
of a child’s therapy team might be engaged in supporting tion as well as daytime behaviors. (68) It is generally believed
improved feeding behaviors, from occupational therapy to to be safe and well-tolerated, at least in the short- to medium-
speech-language therapy to ABA. Note that obesity is a term, whereas research into long-term safety is ongoing. (69)
online section devoted to ASD and can be a resource for strategies in early intervention for young children has re-
providers and families. The gluten-free, casein-free diet is cently been found to reduce parent stress. Parent support
commonly used in ASD, despite inconclusive evidence that groups can also be helpful, particularly if they include
behavioral symptoms improve while on the diet. Potential families of children with similar disabilities, have flexible
harms include nutrient and/or vitamin deficiencies, lower structure and content, and have qualified leaders. (108)
weight and BMI, further social stigmatization, and in- Family navigators, when available, can also help reduce
creased financial burden for the family. (99)(100) barriers to care and, in turn, reduce burdens on families.
Although there is anecdotal evidence of the benefits of (109) See Table 5 for a list of websites for finding local re-
cannabidiol (CBD) oil for behavioral symptoms, including sources to support families of children with ASD.
self-harm behaviors, there is currently inadequate data to
support this, and potential adverse effects are important to Promoting Healthy Outcomes
consider. Pharmaceutical-grade CBD, FDA-indicated for Some children with ASD move along a more favorable life
refractory epilepsy, is associated with somnolence, loss of trajectory and achieve better-than-expected outcomes. (110)
appetite, diarrhea, and transient transaminase elevation. Intervening early and intensively can dramatically improve
(101) Preparations of CBD that contain tetrahydrocannabi- core symptoms and outcomes for some individuals. In-
nol theoretically might further increase the risk of psycho- deed, approximately 9% of children diagnosed early (ie,
sis in youth with ASD. (102)(103) age 2–3 years) with ASD may no longer meet diagnostic
criteria by age 19 years. (111) In neurotypical children, par-
Family Stress ent, environmental, and individual factors all have been
Families of children with ASD report lower quality of life, found to contribute to resilience to psychopathology after
with increased stress, anxiety, and depression, compared adversity. (112) The study of resilience to childhood psy-
with families of children with other disabilities. chopathology is only beginning to be extended to ASD,
(104)(105)(106) Beyond causing suffering and adverse but it is possible that the goodness of fit between the indi-
physical health outcomes for parents, parent stress inter- vidual with ASD and the environment is an important
feres with their ability to implement intervention strate- contributor to outcome. (113) Consideration of the impact
gies and coordinate services for their children. This, in of the parent-child relationship, family dynamics, school,
turn, leads to worse outcomes for children with ASD and and community on the development of the child with
their siblings. (107) The integration of parent mindfulness ASD can sometimes lead to additional strategies for
1. A 3-year-old girl is brought to the clinic by her parents for follow-up after
receiving a diagnosis of autism. Her mother has been reading about all of
the associated deficits that may occur with autism spectrum disorders. Given
this child’s age and sex, which of the following is the most likely co-
occurring disorder?
A. Angelman syndrome.
B. Intellectual disability.
C. Language regression.
D. Obsessive-compulsive disorder.
E. Self-injurious behavior.
2. An 18-month-old boy is brought to the clinic by his mother with concerns REQUIREMENTS: Learners can
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