Purpose of review: Consanguinity can increase the risk for autosomal recessive conditions, along with autism spectrum disorder (ASD). Rarely outside of the genetics community is this discussed. Understanding its impact on the development of ASD and increasing awareness for physicians is important.
Recent findings: ASD is a polygenic multifactorial disorder associated with morbidity and burden of care. Studies have confirmed its heritability, suspecting to an autosomal recessive transmission. Consanguinity increases the risk for uncovering recessive disorder and its role as an independent contributor for the development of ASD should be examined. With consanguinity being a known risk factor for autosomal recessive conditions, clinicians should routinely screen for it when evaluating for ASD, as this is inconsistently done. If suspected, genetic testing should be also recommended. Understanding current risk as well as future risk and providing families with the education to make the most informed decisions is necessary.
Keywords: Autism spectrum disorder; Consanguinity; Genetic counseling; Homozygous mapping.