The developmental neuropsychology of female carriers of the fragile X gene.
Item
-
Title
-
The developmental neuropsychology of female carriers of the fragile X gene.
-
Identifier
-
AAI9431365
-
identifier
-
9431365
-
Creator
-
Hinton, Veronica Jean.
-
Contributor
-
Adviser: Jeffery M. Halperin
-
Date
-
1994
-
Language
-
English
-
Publisher
-
City University of New York.
-
Subject
-
Education, Educational Psychology | Biology, Neuroscience | Biology, Genetics
-
Abstract
-
This dissertation examined the developmental neuropsychology of female carriers of fra(X). The relationship among inheritance, gene structure and cognitive skills was investigated in female carriers of the fragile X gene. Subjects were studied molecularly by examining gene state and cognitively by examining performance on a neuropsychological test battery.;Results from 16 women with a maternally inherited fra(X) gene, 16 women with a paternally inherited fra(X) gene, and 18 controls (mothers and sisters of persons with Down Syndrome) indicated: (1) Mode of inheritance influences both behavioral and molecular expression of fra(X). Only a subgroup of the women who inherited the fra(X) gene from their mothers (56%) were affected; (2) Changes in the genomic structure of the fra(X) gene is present in all fra(X) females with mild cognitive deficits. Even in nonretarded subjects, lower IQ scores (e.g. WAIS-R Full Scale IQ {dollar}\geq{dollar} 1 standard deviation below the mean) were associated with the full fragile X mutation. Women with the premutation were no different from controls on measures of IQ; and (3) The cognitive deficits observed are specific. After controlling for differences in overall intellectual functioning, the subgroup of maternal inheritance women with the full mutation had impaired visual attention, while their verbal and general memory skills remained intact. The maternal and paternal inheritance groups with the premutation did not differ from controls or each other on any of the measures.;This work took a genetic approach to the study of brain-behavior relationships. The differential effects observed on cognitive profiles were inferred to be due to varying amounts of a specific gene product. Variation from controls on cognitive measures may be either a direct result of the lack of the product or due to developmental adaptive responses of the CNS to that selective loss. By effectively manipulating one variable in physiological development, the study of a single gene disorder such as fra(X) provides an optimal model for the study of developmental neuropsychology.
-
Type
-
dissertation
-
Source
-
PQT Legacy CUNY.xlsx
-
degree
-
Ph.D.
