Diagnosis and Management of Autism Spectrum Disorder in the Era of Genomics

Abstract

Synopsis While the diagnosis of Autism Spectrum Disorder is based on behavioral signs and symptoms, the evaluation of a child with ASD has become increasingly focused on the identification of the genetic etiology of the disorder. Using chromosomal microarray and whole exome sequencing technology, more than 25% of children with ASD have an identifiable, causative genetic variant or syndrome, and this rate continues to increase with improved methods and widespread use of genetic testing. The identification of genetic variants has been accompanied by a concerted effort to define more homogeneous clinical syndromes that are informed by the underlying genetic etiology of a child’s ASD. In the future, such characterization will facilitate targeted treatments based on mechanisms of disease and common clinical features. In this review we begin with a clinical overview of ASD, highlighting the heterogeneity of the disorder. We then discuss the genetics of ASD and present updated guidelines on genetic testing. We then consider the insights gained from the identification of both single gene disorders and rare variants, with regard to clinical phenomenology and potential treatment targets.

Autism spectrum disorder and genetic testing: Parental perceptions and decision‐making

“…Currently, the explanation for the low rate of genetic testing for ASD is unclear, and the extent to which this is due to clinician nonadherence to published guidelines versus other factors such as parental interest or access to genetic testing is uncertain. Future studies should explore various stakeholder (geneticists, primary care providers, persons with ASD, and their families) perspectives to establish educational strategies to inform parental decision making for ASD genetic testing (Baker & Jeste, ; Gurrieri, ; Pellicano & Stears, ).…”

“…Ethical concerns related to the interpretation of variance of unknown significance, identification of incidental genomic findings, and potential discrimination or increased stigmatization based upon genetic diagnoses have all been raised (Driessnack et al, 2013;Miller, 2010). Currently, there is a lack of bioethical empirical studies on autism genetics querying the opinions of all parties, including persons with ASD themselves (Hens, Peeters, & Dierickx, 2016 (Baker & Jeste, 2015;Gurrieri, 2012;Pellicano & Stears, 2011).…”

Depression, positive thinking, personal and social resourcefulness among caregivers of persons with autism spectrum disorders

“…One in sixty-eight children are affected by autism spectrum disorders (ASD). ASD is a neurological developmental disability that can negatively impact the person's communication, social interactions, and is manifested by repetitive behaviors (Baker & Jeste, 2015;National Autism Association, 2014). Over three-quarters of children with ASD have some sort of developmental disorders such as language disorders and/or attention deficit hyperactivity disorders (Levy et al, 2010), in addition to co-morbid psychiatric disorders such as anxiety disorders, bipolar disorders, and oppositional defiant disorders (Close, Lee, Kaufmann, & Zimmerman, 2012;National Autism Association, 2014).…”

The Mediating Effects of Positive Cognitions on Autism Caregivers' Depression and Their Children's Challenging Behaviors

“…Currently, one in sixty-eight children are affected by ASD; a bio-neurological developmental disability that affects a person's ability to communicate and to interact socially Jeste, 2015 andNational Autism Association, 2014).…”