Intellectual characteristics of Prader-Willi syndrome: comparison of genetic subtypes

Advances in genetics have led to an increased understanding of the role of the genotype on behavioural functioning. The purpose of the present study was to examine differences in intellectual functioning in individuals with Prader–Willi syndrome (PWS) with a paternal 15q11–q13 deletion versus matern...

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Bibliographic Details
Published in:Journal of intellectual disability research 2000-02, Vol.44 (1), p.25-30
Main Authors: Roof, E., Stone, W., MacLean, W., Feurer, I. D., Thompson, T., Butler, M. G.
Format: Article
Language:English
Subjects:
Adolescent
Adult
Adult and adolescent clinical studies
Anxiety Disorders
Articulation Impairments
Behavior Rating Scales
Biological and medical sciences
Check Lists
Child
Child Behavior
chromosome 15q deletion
Chromosomes, Human, Pair 15 - genetics
Fathers
Female
Genetic factors
genetic subtype differences
Genotype
Humans
Intellectual deficiency
Intellectual Disability
Intellectual functioning
Intelligence
Intelligence Quotient
Intelligence Tests
Male
maternal uniparental disomy
Medical sciences
Mothers
Nondisjunction, Genetic
Obesity
Patients
Phenotype
Prader-Willi syndrome
Prader-Willi Syndrome - genetics
Prader-Willi Syndrome - psychology
Psychology. Psychoanalysis. Psychiatry
Psychomotor Performance
Psychopathology. Psychiatry
Sequence Deletion
Verbal Learning
Young Children
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Summary:Advances in genetics have led to an increased understanding of the role of the genotype on behavioural functioning. The purpose of the present study was to examine differences in intellectual functioning in individuals with Prader–Willi syndrome (PWS) with a paternal 15q11–q13 deletion versus maternal uniparental disomy (UPD) of chromosome 15. Measures of intelligence and academic achievement were administered to 38 individuals with PWS (24 with deletion and 14 with UPD). The subjects with UPD had significantly higher verbal IQ scores than those with deletion (P0.01). The magnitude of the difference in verbal IQ was 9.1 points (69.9 versus 60.8 for UPD and deletion PWS subjects, respectively). Only 17% of subjects with the 15q11–q13 deletion had a verbal IQ≥70, while 50% of those with UPD had a verbal IQ≥70. Performance IQ scores did not differ between the two PWS genetic subtype groups. This is the first report to document the difference between verbal and performance IQ score patterns among subjects with PWS of the deletion versus the UPD subtype.
ISSN:0964-2633
1365-2788
DOI:10.1046/j.1365-2788.2000.00250.x