title: The neurochemical basis for the treatment of autism spectrum disorders and Fragile X Syndrome.
abstract: Autism spectrum disorders (ASD) and Fragile X Syndrome (FXS) are neurodevelopmental disorders that share overlapping behavioral characteristics. While FXS is known to result from a specific genetic mutation, the causes of the majority of cases of ASD are unknown. Animal models of FXS have revealed new insight into the cellular and biochemical changes that occur in the central nervous system in this disorder, while human genetic studies on individuals with autism have identified sets of genes that may increase susceptibility to the disorder. Together these discoveries suggest overlapping biochemical characteristics and reveal new directions for the potential development of pharmacological therapies that might prove useful in the treatment of both FXS and ASD. In particular, delayed synaptic maturation, abnormal synaptic structure and/or function and alterations in intracellular signaling pathways have been linked to the pathogenesis of FXS and ASD. Aberrations in GABA(A) receptor ion channels and the G-protein coupled metabotropic glutamate and GABA(B) transmitter systems are also linked to both disorders and these receptors are currently at the forefront of preclinical and clinical research into treatments for both autism and Fragile X Syndrome.
authors.affiliation: Department of Pharmaceutical Sciences, Faculty of Pharmacy, University of Toronto, Toronto, Ontario M5S3M2, Canada. d.hampson@utoronto.ca
authors.forename: David R
authors.initials: DR
authors.lastname: Hampson
authors.forename: Daniel C
authors.initials: DC
authors.lastname: Adusei
authors.forename: Laura K K
authors.initials: LK
authors.lastname: Pacey
mesh_terms: D000818:Animals; D001321:Autistic Disorder / Q000188:drug therapy* / Q000235:genetics / Q000378:metabolism; D004195:Disease Models, Animal; D005600:Fragile X Syndrome / Q000188:drug therapy* / Q000235:genetics / Q000378:metabolism; D018698:Glutamic Acid / Q000378:metabolism; D006801:Humans; D005680:gamma-Aminobutyric Acid / Q000378:metabolism
chemical_list: D018698:Glutamic Acid; D005680:gamma-Aminobutyric Acid