Effect of the deficits of fragile X mental retardation protein on cognitive status of fragile X males and females assessed by robust pedigree analysis

Danuta Z. Loesch, Richard M. Huggins, Quang M. Bui, Jennifer L. Epstein, Annette K. Taylor, Randi J Hagerman

Research output: Contribution to journalArticle

58 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)416-423
Number of pages8
JournalJournal of Developmental and Behavioral Pediatrics
Volume23
Issue number6
StatePublished - Dec 2002

Fingerprint

Fragile X Mental Retardation Protein
Pedigree
Intellectual Disability
Genes

Keywords

  • Cognitive profiles
  • FMRP effect
  • Fragile X syndrome
  • Pedigree analysis
  • Robust modification

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Behavioral Neuroscience
  • Psychology(all)
  • Developmental and Educational Psychology

Cite this

Effect of the deficits of fragile X mental retardation protein on cognitive status of fragile X males and females assessed by robust pedigree analysis. / Loesch, Danuta Z.; Huggins, Richard M.; Bui, Quang M.; Epstein, Jennifer L.; Taylor, Annette K.; Hagerman, Randi J.

In: Journal of Developmental and Behavioral Pediatrics, Vol. 23, No. 6, 12.2002, p. 416-423.

Research output: Contribution to journalArticle

@article{39e39cee3a6a420eb2513c88cf8e9a05,
title = "Effect of the deficits of fragile X mental retardation protein on cognitive status of fragile X males and females assessed by robust pedigree analysis",
abstract = "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.",
keywords = "Cognitive profiles, FMRP effect, Fragile X syndrome, Pedigree analysis, Robust modification",
author = "Loesch, {Danuta Z.} and Huggins, {Richard M.} and Bui, {Quang M.} and Epstein, {Jennifer L.} and Taylor, {Annette K.} and Hagerman, {Randi J}",
year = "2002",
month = "12",
language = "English (US)",
volume = "23",
pages = "416--423",
journal = "Journal of Developmental and Behavioral Pediatrics",
issn = "0196-206X",
publisher = "Lippincott Williams and Wilkins",
number = "6",

}

TY - JOUR

T1 - Effect of the deficits of fragile X mental retardation protein on cognitive status of fragile X males and females assessed by robust pedigree analysis

AU - Loesch, Danuta Z.

AU - Huggins, Richard M.

AU - Bui, Quang M.

AU - Epstein, Jennifer L.

AU - Taylor, Annette K.

AU - Hagerman, Randi J

PY - 2002/12

Y1 - 2002/12

N2 - 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.

AB - 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.

KW - Cognitive profiles

KW - FMRP effect

KW - Fragile X syndrome

KW - Pedigree analysis

KW - Robust modification

UR - http://www.scopus.com/inward/record.url?scp=0036927063&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0036927063&partnerID=8YFLogxK

M3 - Article

VL - 23

SP - 416

EP - 423

JO - Journal of Developmental and Behavioral Pediatrics

JF - Journal of Developmental and Behavioral Pediatrics

SN - 0196-206X

IS - 6

ER -