Premium
Social‐cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU‐COBESO study
Author(s) -
Jahja Rianne,
Spronsen Francjan J.,
Sonneville Leo M. J.,
Meere Jaap J.,
Bosch Annet M.,
Hollak Carla E. M.,
RubioGozalbo M. Estela,
Brouwers Martijn C. G. J.,
Hofstede Floris C.,
Vries Maaike C.,
Janssen Mirian C. H.,
Ploeg Ans T.,
Langendonk Janneke G.,
Huijbregts Stephan C. J.
Publication year - 2016
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-016-9918-0
Subject(s) - cognitive skill , cognition , social skills , phenylalanine hydroxylase , hyperphenylalaninemia , mood , psychology , quality of life (healthcare) , social cognition , clinical psychology , social functioning , intelligence quotient , social competence , developmental psychology , medicine , pediatrics , psychiatry , phenylalanine , social change , biochemistry , chemistry , distress , amino acid , economic growth , economics , psychotherapist
Objective Early treatment of phenylketonuria (ET‐PKU) prevents mental retardation, but many patients still show cognitive and mood problems. In this study, it was investigated whether ET‐PKU‐patients have specific phenylalanine (Phe‐)related problems with respect to social‐cognitive functioning and social skills. Methods Ninety five PKU‐patients (mean age 21.6 ± 10.2 years) and 95 healthy controls (mean age 19.6 ± 8.7 years) were compared on performance of computerized and paper‐and‐pencil tasks measuring social‐cognitive abilities and on parent‐ and self‐reported social skills, using multivariate analyses of variance, and controlling for general cognitive ability (IQ‐estimate). Further comparisons were made between patients using tetrahydrobiopterin (BH4, N = 30) and patients not using BH4. Associations with Phe‐levels on the day of testing, during childhood, during adolescence and throughout life were examined. Results PKU‐patients showed poorer social‐cognitive functioning and reportedly had poorer social skills than controls (regardless of general cognitive abilities). Quality of social‐cognitive functioning was negatively related to recent Phe‐levels and Phe‐levels between 8 and 12 years for adolescents with PKU. Quality of social skills was negatively related to lifetime phenylalanine levels in adult patients, and specifically to Phe‐levels between 0 and 7, and between 8 and 12 years. There were no differences with respect to social outcome measures between the BH 4 and non‐BH 4 groups. Conclusion PKU‐patients have Phe‐related difficulties with social‐cognitive functioning and social skills. Problems seem to be more evident among adolescents and adults with PKU. High Phe‐levels during childhood and early adolescence seem to be of greater influence than current and recent Phe‐levels for these patients.