Cognitive strengths and weaknesses in children and adolescents homozygous for the galactosemia Q188R mutation: A descriptive study

Kevin M. Antshel, Ingrid O. Epstein, Susan E. Waisbren

Research output: Contribution to journalArticle

47 Scopus citations

Abstract

Children and adolescents (n = 25) with galactosemia homozygous for the common Q188R mutation (substitution of glutamine codon 188 with arginine) were group matched for sex and age with healthy control participants (n = 20). Participants were administered an abbreviated neuropsychological battery by a doctoral-level psychologist. Results indicate that children and adolescents with galactosemia function generally within the low average IQ range, with a small standard deviation (indicating a relatively homogeneous IQ profile), and have many features suggestive of left-hemisphere dysfunction. Word retrieval difficulties are a primary component of the galactosemia profile. In addition, participants with galactosemia have less well-developed executive functions. Child and parental reports of behavioral symptoms differ; parents reported that their children had more internalizing symptoms than the children with galactosemia self-reported. Cognitive complications in galactosemia appear to emerge even in well-treated children.

Original languageEnglish (US)
Pages (from-to)658-664
Number of pages7
JournalNeuropsychology
Volume18
Issue number4
DOIs
StatePublished - Oct 1 2004

ASJC Scopus subject areas

  • Neuropsychology and Physiological Psychology

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