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Antshel, K.M. et al.

Antshel, Epstein, Waisbren,

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

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.[1]

References

Cognitive strengths and weaknesses in children and adolescents homozygous for the galactosemia Q188R mutation: a descriptive study. Antshel, K.M., Epstein, I.O., Waisbren, S.E. Neuropsychology. (2004) [Pubmed]

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