Genetic testing and autism: Tutorial for communication sciences and disorders

Abstract

This tutorial provides professionals in communication sciences and disorders with an overview of the molecular basis and parental perceptions of genetic testing as associated with autism. The introduction notes the prominence of genetic testing within present-day medical practices and highlights related limitations and concerns through the lens of disability critique. The body of the tutorial provides an overview of four different forms of genetic variation, highlighting the potential associations with autism and available genetic testing. In sum, most autism cases cannot be associated directly with specified forms of genetic variation but are attributed instead to multiple genetic and environmental influences working in concert. Finally, the discussion focuses on parental perceptions of the genetic testing associated with autism, both the potential benefits and harms, and emphasizes the need to integrate first-person perspectives from autistic individuals.

Diversity and Classification of Genetic Variations in Autism Spectrum Disorder

“…Overall, the genetic panels developed for screening ASD associated variations cannot yet provide definitive information on whether a person has autism (i.e., they cannot be used for diagnostic purposes). However, they offer at least partial answers to the cause of the condition [144]. Finally, scientific efforts to find a cure for autism, mainly in monogenic cases, using a gene therapy approach, should also be mentioned [135].…”

Autism spectrum disorder.

“…Medical conditions that predispose to ASD include various genetic disorders that are associated with intellectual disability, certain intrauterine exposures (e.g., to sodium valproate or alcohol), perinatal factors such as prematurity, and infections such as encephalopathy. A family history of ASD suggests there could be an identifiable genetic risk to other family members; therefore, genetic testing of the affected individual and their first-degree relatives may be indicated (DeThorne & Ceman, 2018).…”

Mesenchymal Stem Cells and Purinergic Signaling in Autism Spectrum Disorder: Bridging the Gap between Cell-Based Strategies and Neuro-Immune Modulation

“…Unfortunately, only approximately 5–10% of all ASD cases co-occur with monogenic disorders [ 35 ]. Most of the disorders are associated with a mutation in the sequence of regulators that control the expression of groups of genes, taking part in processes such as chromatin packing, development of an embryo, and synaptic transmission [ 35 , 36 ]. Within them, Rett syndrome and Fragile X syndrome represent the most frequent ones, in which 40% and 25% of patients are co-diagnosed with ASD, respectively [ 37 ].…”

“…Two groups of genetic aberrations can cause ASD: copy number variants (CNVs) and single-nucleotide variants (SNVs), all of which could be inherited from one or both of the parents or appear de novo [ 38 ]. CNVs, compared to large chromosomal aberrations, refer to relatively small DNA regions that undergo duplications or deletions [ 36 ]. They are detected in the genome by using microarray techniques that offer high resolution and are able to distinguish abnormalities between ASD and healthy patients [ 36 , 37 ].…”