The Heritability of Autism Spectrum Disorder

Abstract

Author Contributions: Drs Sandin and Kuja-Halkola had full access to all of the data in the study and take responsibility for the integrity of the data and the accuracy of the data analysis.

Identifying and managing autism in adults

“…Both genetic and environmental factors appear to play a role in the aetiology of autism. It is highly heritable, as 64–91% of likelihood is associated with genetic factors . Approximately 5% of autism cases can be attributed to a single rare genetic mutation, and these individuals may have a particular outcome or phenotype.…”

“…It is highly heritable, as 64-91% of likelihood is associated with genetic factors. 6,7 Approximately 5% of autism cases can be attributed to a single rare genetic mutation, and these individuals may have a particular outcome or phenotype. For example, individuals with 15q11.2 duplication syndrome tend to show hypotonia, motor delays, intellectual disability, autism and epilepsy.…”

Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment

“…autism spectrum disorder, intellectual disability, missense variants, neuroligin-3, unfolded protein response 1 | BACKGROUND Autism spectrum disorders (ASD) are characterized by deficits in social communication, restricted interests, and/or stereotyped repetitive behaviors, often associated with impairment in language development and intellectual disability (ID). The role of genetics in ASD is important and if the genetic basis is at least partly multifactorial (Sandin et al, 2017), a large number of "monogenic" syndromes associating ASD with ID have been identified in the last decades (Gonzalez-Mantilla, Moreno-De-Luca, Ledbetter, & Martin, 2016). One of these genes, the neuroligin-3 (NLGN3), was involved in ASD 15 years ago with the identification of a unique missense variant, c.1351C>T; Arg451Cys, in two affected brothers (Jamain et al, 2003).…”

Autism in children: improving screening, diagnosis and support

“…We know that it is a highly heritable condition, with 64-91% of risk being associated with genetic factors. 7,8 About 5% of autism cases are syndromic, meaning that a single gene mutation causes a particular set of symptoms and phenotype, eg individuals with 15q11.2 duplication syndrome tend to show hypotonia, motor delays, intellectual disability, autism and epilepsy. 9 However, in most cases autism is polygenic, meaning that many genes contribute to its aetiology.…”