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11 - Genetic syndromes associated with intellectual disability

Published online by Cambridge University Press:  13 August 2009

By
Bonita P. Klein-Tasman ,
Kristin D. Phillips  and
Jill K. Kelderman
Edited by
Scott J. Hunter  and
Jacobus Donders
Scott J. Hunter
Affiliation:
University of Chicago
Jacobus Donders
Affiliation:
Mary Free Bed Rehabilitation Hospital, Grand Rapids
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Summary

A central role of pediatric neuropsychologists is to apply an understanding of neurocognitive disorders to the assessment of a child's pattern of strengths and weaknesses, and to point families in the direction of appropriate interventions (Baron, 2003; Bernstein, 2000). In recent years, with advances in molecular and clinical genetics, there has been a surge in research examining the phenotypes associated with a broad range of genetically based neurodevelopmental disorders, in the search for a better understanding of genotype–phenotype relations (Denckla, 2000; Fisch, 2000). This knowledge is invaluable to neuropsychologists who can inform their assessments based on these investigations. In addition, knowledge about etiology has the potential to inform intervention suggestions, including recommendations to support transition to adulthood, once a body of knowledge about the impact of such interventions exists.

In this chapter, we discuss the importance of consideration of etiology in intervention planning for children with mental retardation syndromes. First, the potential strengths of an etiological approach, in contrast to one that focuses primarily on the level of functioning of the child, are described. Secondly, an outline of the assessment targets that are typically addressed with children with mental retardation is presented. Thirdly, the cognitive and behavioral phenotypes characteristic of a number of genetic syndromes with associated intellectual disability are presented, with a focus on available literature about appropriate interventions targeted to particular genetic disorders.

Type
Chapter
Information
Pediatric Neuropsychological Intervention , pp. 193 - 223
Publisher: Cambridge University Press
Print publication year: 2007

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