Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities.

Welsink-Karssies MM, Oostrom KJ, Hermans ME, Hollak CEM, Janssen MCH, Langendonk JG, Oussoren E, Rubio Gozalbo ME, de Vries M, Geurtsen GJ, Bosch AM

Orphanet journal of rare diseases, 2020 02 07


Despite early diagnosis and treatment, Classical Galactosemia (CG) patients frequently develop long-term complications, such as cognitive impairment. Available literature primarily reports on general intellectual abilities and shows a substantially lower Full Scale Intelligence Quotient (FSIQ) in CG patients than in the general population. Both problems in social functioning as well as internalizing problems are often reported in CG patients. The combination of intelligence, cognitive functioning, behavior and social functioning has not been studied systematically in CG patients.

doi: 10.1186/s13023-019-1277-0