Document Detail


Effect of the deficits of fragile X mental retardation protein on cognitive status of fragile x males and females assessed by robust pedigree analysis.
MedLine Citation:
PMID:  12476071     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The effect of the fragile X mental retardation 1 (FMR1) gene product (fragile X mental retardation protein [FMRP]) deficits on Full-Scale IQ (FSIQ) and FSIQ-adjusted Wechsler subtests and index scores in fragile X disorder were assessed using a robust modification of the maximum likelihood estimators for pedigree data. The results from 144 extended families have demonstrated a linear effect of progressively reduced levels of FMRP on the FSIQ and all subtest and summary scores in either gender. The effect of FMRP in decreasing FSIQ-adjusted subtest scores was highly significant for Digit Span, Symbol Search, Object Assembly, and Picture Arrangement, with a consistent trend in both genders. Heritability for FSIQ and unadjusted subtest scores estimated from the covariance model did not exceed 50% and varied widely from the highest for Verbal score to the lowest for Picture Completion score. Possible mechanisms by which FMRP deficit impacts on specific weaknesses in fragile X are considered on the basis of present data.
Authors:
Danuta Z Loesch; Richard M Huggins; Quang M Bui; Jennifer L Epstein; Annette K Taylor; Randi Jensen Hagerman
Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Journal of developmental and behavioral pediatrics : JDBP     Volume:  23     ISSN:  0196-206X     ISO Abbreviation:  J Dev Behav Pediatr     Publication Date:  2002 Dec 
Date Detail:
Created Date:  2002-12-11     Completed Date:  2003-04-15     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  8006933     Medline TA:  J Dev Behav Pediatr     Country:  United States    
Other Details:
Languages:  eng     Pagination:  416-23     Citation Subset:  IM    
Affiliation:
School of Psychological Science, La Trobe University, Melbourne. d. loesch@latrobe.edu.au
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Aged
Child
Child, Preschool
Cognition Disorders / diagnosis
Female
Fragile X Mental Retardation Protein
Fragile X Syndrome / genetics*
Humans
Male
Mental Retardation / genetics*
Middle Aged
Models, Biological
Nerve Tissue Proteins / genetics*
Pedigree
RNA-Binding Proteins*
Wechsler Scales
Grant Support
ID/Acronym/Agency:
5M01RR00069/RR/NCRR NIH HHS; HD36071/HD/NICHD NIH HHS
Chemical
Reg. No./Substance:
0/FMR1 protein, human; 0/Nerve Tissue Proteins; 0/RNA-Binding Proteins; 139135-51-6/Fragile X Mental Retardation Protein

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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