Abstract
Many cases of autism spectrum disorder (ASD) are caused by rare, highly penetrant mutations. The terms “secondary autism” and “syndromic autism” refer to those with an ASD diagnosis associated with a defined genetic defect. Well-known examples of syndromic ASD include neurofibromatosis type 1, fragile X syndrome, and tuberous sclerosis (TS). As with all forms of ASD, the neurological phenotype of patients with syndromic ASD is highly variable and is frequently accompanied by mental retardation, attention-deficit hyperactivity disorder, and/or seizures, conditions frequently found in individuals with idiopathic ASD. Despite the genetic heterogeneity underpinning ASD, this chapter explains how pathway- and network-based methods can (i) integrate the current ASD pathological hypotheses, such as abnormal synaptic, secretory pathway, calcium signalling, or mitochondrial function, and (ii) be used to explain the high incidence of ASD in individuals with defined genetic disorders, such as TS. Data from these analyses also suggest that a single therapeutic drug may be able to target ASD in a broad subset of patients.
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Barth, C., Aziz, A., Bishop, N. (2014). Integrating Pathogenic Models of Autism: Pathway and Network Analysis. In: Patel, V., Preedy, V., Martin, C. (eds) Comprehensive Guide to Autism. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-4788-7_193
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