Developmental Disability and Fragile X Syndrome: Clinical Overview

David R Hessl, C. Green, D. Aguilar, L. Cordeiro, C. McCormick, J. Yuhas

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Fragile X syndrome (FXS) is caused by mutation of a single gene (. FMR1) on the X chromosome and is the leading cause of inherited developmental disability, as well as the leading single gene cause of autism. Individuals with FXS have well-described physical and behavioral phenotypes; however, considerable variability in phenotype expression has been explained by a number of environmental, genetic, and biological/physiological factors. The brain and molecular genetic basis of FXS has been relatively well described through numerous human studies and animal models, and as such, it provides a useful model for understanding links between genes, brain, and behavior; specific conditions such as autism, attention-deficit/hyperactivity disorder, and anxiety disorders; and for testing pharmacological, behavioral, and gene therapies.

Original languageEnglish (US)
Title of host publicationEncyclopedia of Neuroscience
PublisherElsevier Ltd
Pages487-494
Number of pages8
ISBN (Print)9780080450469
DOIs
StatePublished - 2010

Fingerprint

Fragile X Syndrome
Developmental Disabilities
Autistic Disorder
Genes
Phenotype
Brain
Biological Factors
X Chromosome
Attention Deficit Disorder with Hyperactivity
Anxiety Disorders
Genetic Therapy
Molecular Biology
Animal Models
Pharmacology
Mutation

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Hessl, D. R., Green, C., Aguilar, D., Cordeiro, L., McCormick, C., & Yuhas, J. (2010). Developmental Disability and Fragile X Syndrome: Clinical Overview. In Encyclopedia of Neuroscience (pp. 487-494). Elsevier Ltd. https://doi.org/10.1016/B978-008045046-9.00387-9

Developmental Disability and Fragile X Syndrome : Clinical Overview. / Hessl, David R; Green, C.; Aguilar, D.; Cordeiro, L.; McCormick, C.; Yuhas, J.

Encyclopedia of Neuroscience. Elsevier Ltd, 2010. p. 487-494.

Research output: Chapter in Book/Report/Conference proceedingChapter

Hessl, DR, Green, C, Aguilar, D, Cordeiro, L, McCormick, C & Yuhas, J 2010, Developmental Disability and Fragile X Syndrome: Clinical Overview. in Encyclopedia of Neuroscience. Elsevier Ltd, pp. 487-494. https://doi.org/10.1016/B978-008045046-9.00387-9
Hessl DR, Green C, Aguilar D, Cordeiro L, McCormick C, Yuhas J. Developmental Disability and Fragile X Syndrome: Clinical Overview. In Encyclopedia of Neuroscience. Elsevier Ltd. 2010. p. 487-494 https://doi.org/10.1016/B978-008045046-9.00387-9
Hessl, David R ; Green, C. ; Aguilar, D. ; Cordeiro, L. ; McCormick, C. ; Yuhas, J. / Developmental Disability and Fragile X Syndrome : Clinical Overview. Encyclopedia of Neuroscience. Elsevier Ltd, 2010. pp. 487-494
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