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

Neuropsychology. 2004 Oct;18(4):658-64. doi: 10.1037/0894-4105.18.4.658.

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.

Publication types

  • Comparative Study

MeSH terms

  • Adolescent
  • Analysis of Variance
  • Arginine / genetics
  • Case-Control Studies
  • Child
  • Cognition / physiology*
  • Female
  • Galactitol / metabolism
  • Galactosemias / genetics*
  • Galactosephosphates
  • Glutamine / genetics
  • Homozygote*
  • Humans
  • Intelligence / genetics
  • Male
  • Mutation*
  • Neuropsychological Tests
  • UTP-Hexose-1-Phosphate Uridylyltransferase / genetics*

Substances

  • Galactosephosphates
  • Glutamine
  • Galactitol
  • galactose-1-phosphate
  • Arginine
  • UTP-Hexose-1-Phosphate Uridylyltransferase