Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and autism known. There is an absence or deficiency of FMR1 protein in FXS leading to the upregulation of many proteins and pathways important for other forms of autism. All children with autism spectrum disorders (ASDs) should be tested for mutations in the FMR1 gene and both premutations and full mutations can lead to ASDs. This chapter details the clinical, molecular, and treatment aspects of the association between fragile X mutations and ASD. It discusses the phenotypic features of FXS; involvement in premutation carriers; and neurobiological mechanism leading to targeted treatments in FXS.
Chapter. 8923 words. Illustrated.
Subjects: Child and Adolescent Psychiatry ; Neurology ; Neuroscience
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