Identifying biomarkers has been one of the primary goals of biological research of ASD, and current research efforts are directed predominantly toward the identification of markers for risk and early diagnosis. However, ASD is one of the most heterogeneous neurodevelopmental disorders, with great variation observed in behavioral manifestations and cognitive profiles, which makes determination of the single most important genetic risk factor extremely difficult. Knowledge from genetic studies of ASD also provides insight into other neurodevelopmental disorders, as ASD shares both behavioral characteristics and endophenotypes. Īdvances in genetic technologies, large cohort studies, and widespread database sharing have contributed to the discovery and validation of causative genes in ASD. However, it is currently believed that over 50% of the risk of developing ASD is attributed to genetic variation. The concordance rate was reported as 60-70% in monozygous twins and as 5-30% in siblings this is in agreement with a recent large prospective study revealing a recurrence rate of 18% in infant siblings and of 33% in multiplex families. Studies of twin pairs, high-risk infant siblings, families, and populations have estimated concordance rates and segregation of the disorder within families. It is now believed that ASD is a result of complex gene-environment interactions, with strong and clear genetic influences. Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by very early onset of dysfunction in social communication and interaction, repetitive behavior, and limited interest.
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