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 journalArticlepeer-review

63 Scopus citations

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

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

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