4/29/2024 0 Comments Autism spectrum genetic testingDue to these benefits, several major specialty organizations (e.g., American Academy of Pediatrics, American Academy of Neurology, and American College of Medical Genetics and Genomics ) have recommended genetic testing for all children diagnosed with ASD. For example, genetic testing for ASD could: (1) assist in detecting the genetic cause of ASD and reduce the diagnosis odyssey for parents (2) provide personalized treatment and management for children with ASD and (3) help families make informed reproductive decisions by providing genetic risk evaluation information. The current medical guideline for genetic diagnosis of ASD recommends both CMA and Fragile X testing as the first-tier genetic testing for ASD as such testing can potentially benefit the families of children with ASD. Whole-exome sequencing is also available for children with ASD to identify inherited causes of ASD. Fragile X testing can detect the expansions of the FMR1 gene, which could not be identified through CMA. For instance, chromosomal microarray analysis (CMA) or high-resolution array comparative genomic hybridization (array CGH) can detect certain CNVs that are associated with ASD. With the advancement of medical biotechnology in the past two decades, several clinical genetic testing methods have been used for the genetic diagnosis of ASD. Over one hundred ASD susceptibility genes have been identified that could contribute to the development of ASD, including copy number variants (CNVs) (e.g., deletions of 16p11.2, duplications of 15q11.2), de novo mutations (e.g., CHD8, DEAF1), and certain syndromic disease genes that are associated with ASD (e.g., FMR1 gene in Fragile X). Genetics is an important risk factor for ASD, with an estimated heritability of 80% based on a recent study with a sample of two million people across several countries. Moreover, ASD has become one of the fastest-growing developmental disorders in Taiwan since 2011. Due to the insufficient number of health professionals with expertise in ASD (particularly, child psychiatrists), limited clinical infrastructure for ASD assessment and diagnosis, and parents’ reluctance to seek help due to the cultural stigmatization associated with mental disorders, the actual prevalence of children with ASD in Taiwan could be higher. In Taiwan, the reported prevalence of ASD is higher, ranging from 1.0% to 1.2%, based on three representative studies with large samples. The worldwide prevalence of ASD was estimated to be one in 160 children (0.6%). Autism spectrum disorders (ASD) are characterized by deficits in social communication and interactions, as well as the presence of restricted, repetitive, and stereotyped patterns of behaviors and interests.
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