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Cognitive functioning in patients with classical galactosemia: a systematic review.

Merel E Hermans1, Mendy M Welsink-Karssies2, Annet M Bosch2

  • 1Department of Medical Psychology, Amsterdam UMC - location AMC, P.O. Box 22660, 1100 DD, Meibergdreef 9, 1105, AZ, Amsterdam, The Netherlands.

Orphanet Journal of Rare Diseases
|October 20, 2019
PubMed
Summary

Patients with classical galactosemia (a metabolic disorder) often experience cognitive impairments, affecting attention, memory, and vocabulary. Further research is needed to fully understand the cognitive profile and develop interventions.

Keywords:
Classic GalactosemiaCognitionCritical reviewGALT deficiencyNeuropsychological functioningNeuropsychology

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Area of Science:

  • Neuroscience
  • Metabolic Disorders
  • Cognitive Psychology

Background:

  • Classical galactosemia is a metabolic disorder with known long-term complications.
  • Despite dietary management, patients often exhibit below-average intelligence.
  • Cognitive impairments are a significant concern in individuals with this condition.

Purpose of the Study:

  • To investigate the incidence and profile of cognitive impairments in patients with classical galactosemia.
  • To synthesize existing research on cognitive functioning in this patient population.
  • To identify gaps in knowledge regarding cognitive deficits.

Main Methods:

  • A comprehensive literature search was conducted across MEDLINE, EMBASE, and PsychINFO databases.
  • Studies published up to October 2018 examining various cognitive domains were included.
  • Data synthesis employed a narrative approach due to variability in neuropsychological assessments.

Main Results:

  • Eleven studies, including case studies, were reviewed; most were of moderate to low quality.
  • Patients with classical galactosemia generally scored below average across all cognitive domains.
  • Impaired performance was noted in attention, memory, and vocabulary for a significant proportion of patients.

Conclusions:

  • The precise incidence of cognitive impairment in classical galactosemia remains unclear due to study limitations.
  • Clinicians and researchers must be aware of potential cognitive deficits in these patients.
  • Well-designed future studies are essential to establish the cognitive profile and inform intervention strategies.