K.P. is a 3-year-old female visiting your office for her well-child visit. She was born full term after a normal pregnancy and delivery. Initially, K.P. clings to her mother, but as you continue to talk, she climbs down and runs around the exam room, touching everything. When she spots an Elsa in your bag of toys, she points and says “Elsa.” As you hand it to her, she laughs and makes brief eye contact, but ignores your efforts to engage her in play, preferring to remove the doll’s crown and put it back on again.
To begin the physical exam, you call K.P.’s name several times, but she does not respond and continues to play. Her mother finally picks her up so you can measure and weigh her, and K.P. begins a tantrum that lasts 15 minutes.
K.P. is in the 75th percentile for weight and height, and her head circumference is at the 85th percentile. She has mildly hyperextensible joints. K.P. achieved early developmental motor and language milestones within expected age ranges. Her parents describe her as “precocious,” and she loves to imitate scenes from her favorite movies and TV shows.
K.P., an only child, and has history of reflux and sleep disturbance. Her mother reports concerns that K.P. seems more irritable than her peers and is getting worse. At daycare, she doesn’t speak much and has hit and bit other children who don’t do things “the way she wants.”
K.P. has autism spectrum disorder (ASD). The most recent Centers for Disease Control and Prevention data estimates that 1 in 68 school-aged children are diagnosed with ASD, and that males are 5 times more likely to be diagnosed than females (1 in 42 vs 1 in 189). Even though awareness of autism has increased among the general public, misconceptions and confusion about what constitutes an ASD diagnosis are still prevalent among families, clinicians, and educators, and this can lead to an inaccurate or a missed diagnosis, particularly in children whose symptoms may be subtle.
Since early diagnosis and intervention are the best predictors of optimal outcomes for individuals with autism (and most developmental delays), pediatric care providers play a critical role in both identifying developmental red flags and fielding parents’ questions about whether their child’s development is typical. However, this is more complicated than it may seem on the surface. (See Fellow’s Corner).
To meet diagnostic criteria for ASD, as redefined in DSM-5 in 2013, a child must meet all of the following social criteria:
- Difficulties in social emotional reciprocity, including trouble with social approach, back and forth conversation, sharing interests with others, and expressing or understanding emotions
- Difficulties in social nonverbal communication, including abnormal eye contact and body language and difficulty understanding others’ facial expressions and gestures
- Difficulty developing and maintaining relationships with people (other than caregivers), including lack of interest in others and difficulties sharing in imaginative play with others, or difficulty responding and adapting to different social contexts
Additionally, an ASD diagnosis must include at least 2 of the 4 following restricted or repetitive behaviors or interests:
- Stereotyped or repetitive speech patterns, repetitive motor movements, and repetitive use of objects
- Rigid adherence to routines, ritualized patterns of verbal or nonverbal behaviors, and extreme resistance to change (for example, insisting on taking the same route to school each day, or eating the same foods because of their color); this may include extreme distress at small changes in routine
- Highly restricted interests, with abnormal intensity or focus, such as a strong attachment to unusual objects, or obsessions with certain interests such as elevators or train schedules
- Increased or decreased reactivity to sensory stimuli (not reacting to pain; extreme aversion to touch or specific sounds), or unusual interest in sensory aspects of the environment (excessive touching or smelling objects; fascination with spinning objects)
As a spectrum disorder, the severity of social and behavioral symptoms varies widely from one person to the next, and diagnostic clinicians must be sure that the characteristics of ASD are not due to developmental delays alone, and can be distinguished from common comorbidities. (See Autism’s Clinical Companions: Frequent Comorbidities with ASD.)
Diagnosis of ASD comes from taking both a developmental history and making clinical observations. The most widely used observational measure is the ADOS (Autism Diagnostic Observation Schedule) administered by a specifically trained clinician. For school-aged children, an educational classification can be provided by the school district in order to initiate services. But physicians should be aware that for most children a clinical diagnosis and a school classification come from different evaluations.
Ideally, a school-aged child will have both a clinical diagnosis and an educational classification in order to access the full range of intervention and education services available.
For pediatricians, it’s important to be aware of the signals and characteristics of ASD and consider these in the guidance you provide to parents and the logistics and tone of your office visit.
References and suggested readings
Rossignol DA, Genuis SJ, Frye RE. Environmental toxicants and autism spectrum disorders: a systematic review. Transl Psychiatry. 2014:4(2);e360.
Autism rates in the United States explained. Spectrum website. Accessed May 23, 2017.
Harrington J, Allen K. The Clinician’s Guide to Autism. American Academy of Pediatrics website. Accessed May 23, 2017.
Resources for Evidence-based Treatment. Centers for Disease Control and Prevention website. Accessed May 23, 2017.
Fernell E, Eriksson MA, Gillberg C. (2013). Early diagnosis of autism and impact on prognosis: a narrative review. Clinical epidemiology, 5(1), 33-43.
Johnson p, Miller J, Levy S, et al. 1 in 68: An Interview with CHOP Experts on the CDC’s New Autism Rate. Center for Autism Research website. Accessed June 8, 2017.
Council on Children with Disabilities: Autism. American Academy of Pediatrics website. Accessed June 8, 2017.
Vaccines Do Not Cause Autism. Centers for Disease Control and Prevention website. Accessed June 8, 2017.