Autism spectrum disorder (ASD) is a broad, heterogeneous neurodevelopmental disorder encompassing a range of presentation and severity. The common characteristics include communication deficits, impaired social skills, dependency on routine, sensitivity to environmental change, and stereotyped behavior (DSM-5, 2013). When ASD is accompanied by a host of other symptoms it is often referred to as syndromic autism. Syndromic autism is usually severe and can usually be traced to deletions or duplications on a specific gene. These monogenic disorders are by definition easier to diagnose and are good candidates for study since specific biological markers can be assessed and tracked. There have been many discoveries about monogenic autism which help provide insight into the mechanisms of disease. Nonsyndromic autism (also called idiopathic autism) is defined by the absence of additional symptoms or underlying syndromes. Although nonsyndromic autism is far more common and often manifests in a milder form of the disorder, the genes and proteins involved are much more difficult to nail down, and therapeutics are harder to discover. Family and twin studies have provided evidence that the majority of cases are due to common genetic variation (Gaugler et al., 2014). Shifting the focus to syndromic autism has been a critical step in understanding the disease process that underlies the different manifestations of ASD. This is the key to solving the complex web of common genetic variants implicated in nonsyndromic autism. Keywords: Autism, ASD, monogenic, syndromic, common variants, loss of function.
Labkowsky, A. (2021). Understanding Pathophysiology of Nonsyndromic Autism by Examining and Extrapolating from Syndromic Variants. The Science Journal of the Lander College of Arts and Sciences, 15(1), 39-43. Retrieved from https://touroscholar.touro.edu/sjlcas/vol15/iss1/8