The Neuropsychological Profile of Galactosaemia

Overview

Journal J Inherit Metab Dis

Publisher Wiley

Date 2010 Jul 8

PMID 20607611

Citations 23

Authors

Claire M Doyle

Shelley Channon

Danuta Orlowska

Philip J Lee

Affiliations

Soon will be listed here.

Abstract

Long-term follow-up studies of individuals with galactosaemia have indicated that despite a strict galactose-free diet, cognitive functioning is often below average. This study was designed to examine the neuropsychological profile of individuals with galactosaemia in terms of IQ, memory, executive functioning, perceptual abilities and educational outcome. Twenty-eight people with classic galactosaemia and no comorbid neurological or psychiatric disorder took part. A battery of clinical neuropsychological tests was performed. Overall, findings were consistent with previous literature in showing galactosaemia to be linked to below-average functioning across a range of cognitive measures when mean scores were examined. Thus, the mean overall scores for verbal and performance IQ, memory, and executive functions were in the low average range. However, a range of ability was represented across individuals, with some achieving average or above scores and education to A level or above. Further work using longitudinal methodology is needed to address the issue of factors mediating any cognitive weaknesses and to establish the extent of any possible decline in functioning over time.

Citing Articles

Optical Coherence Tomography: Retinal Imaging Contributes to the Understanding of Brain Pathology in Classical Galactosemia.

Lotz-Havla A, Christmann T, Parhofer K, Maier E, Havla J J Clin Med. 2023; 12(5).

PMID: 36902816 PMC: 10004555. DOI: 10.3390/jcm12052030.

Novel imaging technologies for genetic diagnoses in the inborn errors of metabolism.

Gropman A, Anderson A J Transl Genet Genom. 2022; 4:429-445.

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Metabolic effects of the schizophrenia-associated 3q29 deletion.

Pollak R, Purcell R, Rutkowski T, Malone T, Pachura K, Bassell G Transl Psychiatry. 2022; 12(1):66.

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Neuroradiologic Phenotyping of Galactosemia: From the Neonatal Form to the Chronic Stage.

Rossi-Espagnet M, Sudhakar S, Fontana E, Longo D, Davison J, Petengill A AJNR Am J Neuroradiol. 2021; 42(3):590-596.

PMID: 33478945 PMC: 7959436. DOI: 10.3174/ajnr.A7016.

Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities.

Welsink-Karssies M, Oostrom K, Hermans M, Hollak C, Janssen M, Langendonk J Orphanet J Rare Dis. 2020; 15(1):42.

PMID: 32033562 PMC: 7007688. DOI: 10.1186/s13023-019-1277-0.

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