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• W20577296 abstract "Autism spectrum disorder is a common neurodevelopmental disorder, typically detected in early childhood. Diagnosis is currently based on the detection of three core symptoms: (i) abnormal verbal and nonverbal communication, (ii) deficits in social interaction, and (iii) by the presence of restricted and/or repetitive behaviors. ASD has the greatest heritable basis of any cognitive-developmental disorder, based on twin and family studies, with heritability estimates of around 80–90 % (reviewed by Eapen 2011). Spontaneous genetic mutations (known as de novo mutations) are implicated in 10–20 % of cases (Eapen 2011). Variation in a single gene can be sufficient for ASD, but involvement of multiple genes has also been implicated, and such variability in inheritance patterns is typical of many complex genetic disorders (Eapen 2011). At the cellular level, many of the genes implicated in ASD have direct or indirect roles in synapse function (Bourgeron 2009; Toro et al. 2010; Grant 2012), while more broadly, brain studies indicate that mutations in ASD genes lead to aberrant brain connectivity (Wass 2011). In addition, while diagnosis in the first year of life is not possible using current criteria, other manifestations of the deficits in neurological function are detectable before this age (McCleery et al. 2009; Elsabbagh et al. 2012). Furthermore, in addition to the core deficits of ASD, a variety of biochemical, gastrointestinal, and immune system abnormalities are detected in substantial cohorts of patients (McDougle et al. 2005; Ming et al. 2008; Castellani et al. 2009; Adams et al. 2011; Buie et al. 2010; Brown and Mehl-Madrona 2011; Suzuki et al. 2011; Gorrindo et al. 2012). As with all common complex genetic disorders, individual phenotypes vary, and the phenotype" @default.
• W20577296 created "2016-06-24" @default.
• W20577296 creator A5016399666 @default.
• W20577296 creator A5058871673 @default.
• W20577296 date "2013-01-01" @default.
• W20577296 modified "2023-09-24" @default.
• W20577296 title "Autism and Dia1 Family: Cellular Secretory Pathway" @default.
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