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31 - Speech and language disorders

Published online by Cambridge University Press:  17 August 2009

By
Gabrielle Barnand  and
Anthony J. Monaco
Edited by
Alan Wright  and
Nicholas Hastie
Alan Wright
Affiliation:
MRC Human Genetics Unit, Edinburgh
Nicholas Hastie
Affiliation:
MRC Human Genetics Unit, Edinburgh
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Summary

Introduction

Linguistic impairment is a core diagnostic criterion for a number of developmental disorders, such as autism and specific language impairment (SLI). Uncovering the genetic mechanisms responsible for susceptibility to language impairments will be essential to our understanding of the central deficit underlying speech and language disorders. An overlap between autistic and SLI phenotypes has been proposed based on the shared characteristic of pragmatic language impairment (PLI) in some cases. PLI describes inappropriate communication within a social context and can be observed in a subset of individuals diagnosed with both autism and SLI (Bishop and Norbury, 2002). The existence of a phenotypic overlap suggests that a shared genetic susceptibility may be responsible for some aspects of language delay. This is supported by a higher rate of autism in siblings of probands with SLI than in the general population (3%:0.17% respectively) (Tomblin et al., 2003). It has also been reported that siblings of autistic individuals have higher than expected language and communication deficits (Folstein et al., 1999). Whether these observations indicate a common genetic pathway or intermediate phenotypes common to both disorders is unclear. For example, Bishop and Norbury (2002) found a group of children with PLI also met criteria for autism, whereas another group with PLI including stereotyped language and abnormal intonation were otherwise social and communicative.

The approach taken to identify genes underlying speech and language disorders depends on the genetic model indicated by segregation analysis.

Type
Chapter
Information
Genes and Common Diseases
Genetics in Modern Medicine
 , pp. 469 - 487
Publisher: Cambridge University Press
Print publication year: 2007

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