Key takeaways:
- Autism spectrum disorder (ASD) is a biologically based, life-long, neurodevelopmental disorder characterized by impaired social communication and repetitive and restricted behaviors and interests.
- The prevalence of autism spectrum disorder has increased during the past several decades due to both increased awareness and changes in case definition.
- ASD is more common among children with certain genetic conditions (e.g., tuberous sclerosis, fragile X syndrome, untreated phenylketonuria).
- Risperidone and aripiprazole are used for children with ASD.
Before we get started with autism spectrum disorder must-knows, let's prime your brain with these Preview | Review Questions from the Pediatrics Core.
Now that you're ready, let's review what you need to know about ASD for boards and daily practice. This information is pulled from our Pediatrics Core.
Overview of autism spectrum disorder
ASD is a biologically based, life-long, neurodevelopmental disorder characterized by impaired social communication and repetitive and restricted behaviors and interests. The most recent studies (CDC’s Morbidity and Mortality Weekly Report [MMWR]; 2021) estimate the prevalence of autism spectrum disorder at 1 in 44 children in the U.S.
Males are ~4× more likely to be affected than females; some studies suggest that ASD may be underdiagnosed in females. The prevalence of autism spectrum disorder has increased during the past several decades due to both increased awareness and changes in case definition. The pathogenesis of ASD is not completely understood but appears, at least in part, to be caused by genetically altered brain development resulting in the neurobehavioral phenotype. Environmental and perinatal factors can also play a role. Overwhelming research evidence supports no causal relationship with vaccines (including thimerosal or the number of vaccine antigens children receive prior to 24 months of age).
Symptoms of autism spectrum disorder
Patients with this disorder demonstrate impaired social interaction and communication characterized by limited, repetitive, and stereotyped patterns of behavior or interests. Hyper- or hyposensitivity to sensory input is another core symptom of ASD. Specific sensory sensitivity to the texture of certain foods, clothing, clothing tags, and certain surfaces is common. Affected individuals can be extraordinarily knowledgeable about a particular topic (e.g., train schedules, airplanes), insistent that daily schedules be consistently followed, and highly resistant to change. Prognosis is variable among children with ASD. Almost 50% of children with ASD have normal intelligence. ASD is more common among children with certain genetic conditions (e.g., tuberous sclerosis, fragile X syndrome, Angelman syndrome, Rett syndrome, Noonan syndrome, trisomy 21, neurofibromatosis 1, untreated phenylketonuria).
Treatment of autism spectrum disorder
Risperidone and aripiprazole are used for children with ASD. Risperidone is approved in children ≥ 5 years of age, and aripiprazole is approved for children ≥ 6 years of age. Both are atypical antipsychotics. They are indicated for the treatment of maladaptive behaviors, such as irritability, aggression, explosive outbursts (temper tantrums), quickly changing moods, and/or deliberate self-injurious behavior.
Adverse effects of risperidone include cardiac and endocrine complications (e.g., hypertension, electrocardiogram changes, QT prolongation, increased prolactin level, galactorrhea, insulin resistance). Other side effects include generalized fatigue, lethargy, weight gain with increase in appetite, liver function test (LFT) increases, and drooling. Most adverse effects are mild and resolve over several weeks.
Adverse effects of aripiprazole include lethargy, vomiting, rapid weight gain, tremor, and extrapyramidal signs and symptoms.
Treatment of comorbid disorders (e.g. anxiety, ADHD, depression, sleep disturbances) should be considered on a case-by-case basis.
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