Τίτλος:
Classical galactosemia patients can achieve high IQ scores
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Very recently, it was reported that a patient with classical galactosemia and a very high intelligence quotient (IQ) score obtained a university degree. In the present study, two siblings with classical galactosemia (homozygous for Q188R mutation) received upper normal IQ scores when tested with psychometric tools. Additionally, the same IQ scores were determined in their healthy brother when tested at the same age. It was concluded that patients could achieve upper normal IQ scores when on diet and followed up closely. Family and especially maternal care may ameliorate the psychomotor development. © 2019 Walter de Gruyter GmbH, Berlin/Boston 2019.
Συγγραφείς:
Iakovou, K.
Dotsikas, Y.
Loukas, Y.L.
Schulpis, K.H.
Περιοδικό:
Journal of Pediatric Endocrinology and Metabolism
Εκδότης:
De Gruyter Mouton
Λέξεις-κλειδιά:
adolescent; age; Article; brother; child; family; female; galactosemia; gene mutation; homozygote; human; intelligence quotient; male; maternal care; newborn; preschool child; psychometry; psychomotor development; school child; case report; cognition; follow up; galactosemia; intelligence; intelligence test; pathophysiology; physiology; prognosis; sibling, Child; Child, Preschool; Cognition; Family; Female; Follow-Up Studies; Galactosemias; Humans; Intelligence; Intelligence Tests; Male; Prognosis; Siblings
DOI:
10.1515/jpem-2018-0515
