Genes, cognition, and communication: insights from neurodevelopmental disorders - PubMed (original) (raw)

Review

Genes, cognition, and communication: insights from neurodevelopmental disorders

D V M Bishop. Ann N Y Acad Sci. 2009 Mar.

Free PMC article

Abstract

Twin and family studies have demonstrated that most cognitive traits are moderately to highly heritable. Neurodevelopmental disorders such as dyslexia, autism, and specific language impairment (SLI) also show strong genetic influence. Nevertheless, it has proved difficult for researchers to identify genes that would explain substantial amounts of variance in cognitive traits or disorders. Although this observation may seem paradoxical, it fits with a multifactorial model of how complex human traits are influenced by numerous genes that interact with one another, and with the environment, to produce a specific phenotype. Such a model can also explain why genetic influences on cognition have not vanished in the course of human evolution. Recent linkage and association studies of SLI and dyslexia are reviewed to illustrate these points. The role of nonheritable genetic mutations (sporadic copy number variants) in causing autism is also discussed. Finally, research on phenotypic correlates of allelic variation in the genes ASPM and microcephalin is considered; initial interest in these as genes for brain size or intelligence has been dampened by a failure to find phenotypic differences in people with different versions of these genes. There is a current vogue for investigators to include measures of allelic variants in studies of cognition and cognitive disorders. It is important to be aware that the effect sizes associated with these variants are typically small and hard to detect without extremely large sample sizes.

PubMed Disclaimer

Similar articles

Cited by

References

    1. Abrahams BS, Geschwind DH. Advances in autism genetics: On the threshold of a new neurobiology. Nature Rev. Genet. 2008;9:341–355. - PMC - PubMed
    1. Abrahams BS, Tentler D, Peredely JV, et al. Genome-wide analyses of human perisylvian cerebral cortical patterning. Proc. Nat. Acad. Sci. 2007;104:17849–17854. - PMC - PubMed
    1. Alarcón M, Abrahams BS, Stone JL, et al. Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. Amer. J. of Human Genet. 2008;82:150–159. - PMC - PubMed
    1. Barnby G, Monaco AP. Strategies for autism candidate gene analysis. In: Bock G, Goode J, editors. Autism: Neural Basis and Treatment Possibilities. Novartis Foundation Symposium 251. Chichester: John Wiley; 2003. pp. 48–63. - PubMed
    1. Baron-Cohen S. Is Asperger syndrome/high-functioning autism necessarily a disability? Devel. and Psychopathol. 2000;12:489–500. - PubMed

Publication types

MeSH terms

Substances

LinkOut - more resources