A behavioral neurogenetics approach to developmental disabilities: gene-brain-behavior associations

Curr Opin Neurol. 1994 Apr;7(2):172-8. doi: 10.1097/00019052-199404000-00015.

Abstract

This review provides a discussion of behavioral neurogenetics' contribution to understanding neurodevelopmental pathways in learning and developmental disabilities. A brief overview is given of several common neurogenetic disorders with various genetic etiologies including Down syndrome, Turner syndrome, Prader-Willi syndrome, Angelman syndrome, and Tourette's syndrome. Special emphasis is placed on fragile X syndrome as representative of a newly-discovered class of genetic conditions characterized by an unstable trinucleotide repeat. A spectrum of cognitive, behavioral, and social-emotional phenotypic features associated with fragile X syndrome is examined. Also included are findings from recent neuroimaging research and a discussion of the need for the classification of symptoms on the basis of underlying genetic/medical conditions.

Publication types

  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Adult
  • Brain / physiopathology*
  • Brain Damage, Chronic / genetics*
  • Brain Damage, Chronic / physiopathology
  • Cerebral Cortex / physiopathology
  • Down Syndrome / genetics
  • Down Syndrome / physiopathology
  • Female
  • Fragile X Syndrome / genetics
  • Fragile X Syndrome / physiopathology
  • Genetic Carrier Screening
  • Humans
  • Infant, Newborn
  • Intellectual Disability / genetics*
  • Intellectual Disability / physiopathology
  • Male
  • Phenotype
  • Prader-Willi Syndrome / genetics
  • Prader-Willi Syndrome / physiopathology
  • Tourette Syndrome / genetics
  • Tourette Syndrome / physiopathology
  • Turner Syndrome / genetics
  • Turner Syndrome / physiopathology