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Planning studies of etiology

Published online by Cambridge University Press:  01 January 2005

SHELLEY D. SMITH
Affiliation:
University of Nebraska Medical Center
COLLEEN A. MORRIS
Affiliation:
University of Nevada School of Medicine

Abstract

Knowledge of the environmental and genetic etiologies of complex cognitive disorders can guide strategies for diagnosis, prevention, and therapy, but disentangling the various causes can be very challenging. Two basic approaches can be used in identifying genetic factors, a top-down approach, in which phenotypic descriptions are used to discover genes that influence those phenotypes, and a bottom-up approach, comparing the phenotypic effects of genes that are known to cause syndromes that include cognitive disabilities. Thorough characterization of phenotypes throughout development is critical to both of these methods. These strategies have been applied to the characterization of genetic etiologies for reading disability, language disorders, attention-deficit hyperactivity disorder, and autism.

Type
Articles
Copyright
© 2005 Cambridge University Press

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