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. 2012 Oct 1;6(4):1311-1320.
doi: 10.1016/j.rasd.2012.05.007.

TARGETED TREATMENTS IN AUTISM AND FRAGILE X SYNDROME

C Kağan Gürkan  1 , Randi J Hagerman
Affiliations

TARGETED TREATMENTS IN AUTISM AND FRAGILE X SYNDROME

C Kağan Gürkan et al. Res Autism Spectr Disord. .

Abstract

Autism is a neurodevelopmental disorder consisting of a constellation of symptoms that sometimes occur as part of a complex disorder characterized by impairments in social interaction, communication and behavioral domains. It is a highly disabling disorder and there is a need for treatment targeting the core symptoms. Although autism is accepted as highly heritable, there is no genetic cure at this time. Autism is shown to be linked to several genes and is a feature of some complex genetic disorders, including fragile X syndrome (FXS), fragile X premutation involvement, tuberous sclerosis and Rett syndrome. The term autism spectrum disorders (ASDs) covers autism, Asperger syndrome and pervasive developmental disorders (PDD-NOS) and the etiologies are heterogeneous. In recent years, targeted treatments have been developed for several disorders that have a known specific genetic cause leading to autism. Since there are significant molecular and neurobiological overlaps among disorders, targeted treatments developed for a specific disorder may be helpful in ASD of unknown etiology. Examples of this are two drug classes developed to treat FXS, Arbaclofen, a GABA(B) agonist, and mGluR5 antagonists, and both may be helpful in autism without FXS. The mGluR5 antagonists are also likely to have a benefit in the aging problems of fragile X premutation carriers, the fragile X -associated tremor ataxia syndrome (FXTAS) and the Parkinsonism that can occur in aging patients with fragile X syndrome. Targeted treatments in FXS which has a well known genetic etiology may lead to new targeted treatments in autism.

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References

    1. Abrahams BS, Geschwind DH. Advances in autism genetics: on the threshold of a new neurobiology. Nature Reviews Genetics. 2008;9:341–55. - PMC - PubMed
    1. Adams JS, Adams PE, Nguyen D, Brunberg JA, Tassone F, Zhang W, et al. Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS) Neurology. 2007;69:851–9. - PubMed
    1. Alarcón M, Abrahams BS, Stone JL, Duvall JA, Perederiy JV, Bomar JM, et al. Linkage,association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. American Journal of Human Genetics. 2008;82:150–9. - PMC - PubMed
    1. Arking DE, Cutler DJ, Brune CW, Teslovich TM, West K, Ikeda M, et al. A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism. American Journal of Human Genetics. 2008;82:160–4. - PMC - PubMed
    1. Auerbach BD, Osterweil EK, Bear MF. Mutations causing syndromic autism define an axis of synaptic pathophysiology. Nature. 2011;480:63–8. doi: 10.1038/nature10658. - DOI - PMC - PubMed

Web URLs

    1. Hagerman RJ. A Study of the Efficacy, Safety, and Tolerability of STX209 (Arbaclofen) for the Treatment of Social Withdrawal in Adolescents and Adults with Fragile X Syndrome (Harbor-A) ClinicalTrials.gov Identifier: NCT01282268
    1. Marinus Pharmaceuticals. ClinicalTrials.gov Identifier: NCT00441896. A Double-blind, Placebo-controlled, Dose-ranging Clinical Study to Evaluate the Safety, Tolerability, and Antiepileptic Activity of Ganaxolone in Treatment of Patients With Infantile Spasms.
    1. Hagerman RJ. ClinicalTrials.gov Identifier: NCT01288716. Study of Arbaclofen for the Treatment of Social Withdrawal in Subjects With Autism Spectrum Disorders.
    1. Johns Hopkins University and Forest Laboratories. ClinicalTrials.gov Identifier: NCT01078844. Memantine in Adult Autism Spectrum Disorder.
    1. Chugani DC. ClinicalTrials.gov Identifier: NCT00873509. Buspirone in the Treatment of 2–6 Year Old Children With Autistic Disorder (B-ACE)

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