Autism spectrum disorder (ASD) encompasses a range of neurodevelopmental conditions that are diagnosed by clinical and behavioral criteria. Basic characteristics include persistent deficiencies in social communication and interactions across multiple situations as well as restricted, repetitive patterns of behavior, interests, or activities. The presence or absence of other physical or psychiatric disorders increases the range of condition severity.
In 2018, the Centers for Disease Control and Prevention reported that the prevalence of ASD in 2014 was 1 in 59 among children 8 years of age, which represented an increase from 1 in 150 in the early 2000s. ASD is four times more common among boys than among girls and occurs in all racial, ethnic, and socioeconomic groups.
The importance of early diagnosis
Early screening for ASD, beginning at 18 months (or earlier if suggested by behavior), is important to facilitate early diagnosis by a comprehensive assessment process. Expert consensus and evidence indicate that early intensive behavioral intervention programs result in better outcomes. However, most children are not diagnosed until after 4 years of age.
Currently, there is no accurate biologically based test for the diagnosis of ASD. However, in a small percentage of cases, a genetic variant is associated with the condition.
- Syndromic ASD: There is a risk of ASD occurring in conjunction with some rare, genetically determined developmental syndromes such as tuberous sclerosis and Prader-Willi syndrome.
- Idiopathic ASD: ASD in isolation has been associated with many genomic variants, but each of these variants has largely poor ability to predict the condition in individual patients.
Striving for accurate genetic counseling
Knowledge of a syndromic genetic variant could benefit a child by helping to anticipate and tailor medical management of a well-characterized condition. Information regarding syndromic or idiopathic ASD-associated variants could help provide more accurate genetic counseling for a family regarding the likelihood of, for example, a second child with ASD.
To aid in understanding whether and when genetic testing for ASD is clinically useful, Hayes produced a series of reports on genetic testing for ASD:
- Clinical Utility of Genetic Testing to Aid in the Evaluation of Syndromic or Complex Autism Spectrum Disorder
- Clinical Utility of Genetic Testing to Aid in the Evaluation of Idiopathic Autism Spectrum Disorder
- Clinical Utility of Genetic Testing for Primary Diagnosis of Autism Spectrum Disorder
- Clinical Utility of Prenatal Genetic Testing for Autism Spectrum Disorder
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