title: Cognitive strengths and weaknesses in children and adolescents homozygous for the galactosemia Q188R mutation: a descriptive study.
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.
authors.affiliation: Department of Psychiatry, Children's Hospital Boston, Boston, MA, USA. AntshelK@upstate.edu.
authors.forename: Kevin M
authors.initials: KM
authors.lastname: Antshel
authors.forename: Ingrid O
authors.initials: IO
authors.lastname: Epstein
authors.forename: Susan E
authors.initials: SE
authors.lastname: Waisbren
mesh_terms: D000293:Adolescent; D000704:Analysis of Variance; D001120:Arginine / Q000235:genetics; D016022:Case-Control Studies; D002648:Child; D003071:Cognition / Q000502:physiology*; D005260:Female; D004376:Galactitol / Q000378:metabolism; D005693:Galactosemias / Q000235:genetics*; D005695:Galactosephosphates; D005973:Glutamine / Q000235:genetics; D006720:Homozygote; D006801:Humans; D007360:Intelligence / Q000235:genetics; D008297:Male; D009154:Mutation; D009483:Neuropsychological Tests; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000235:genetics*
chemical_list: D005695:Galactosephosphates; D005973:Glutamine; D004376:Galactitol; C029973:galactose-1-phosphate; D001120:Arginine; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase