Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway
| Autor: | Kimber van Vliet, Willem G. van Ginkel, Rianne Jahja, Anne Daly, Anita MacDonald, Saikat Santra, Corinne De Laet, Philippe J. Goyens, Roshni Vara, Yusof Rahman, David Cassiman, Francois Eyskens, Corrie Timmer, Nicky Mumford, Paul Gissen, Jörgen Bierau, Peter M. van Hasselt, Gisela Wilcox, Andrew A. M. Morris, Elisabeth A. Jameson, Alicia de la Parra, Carolina Arias, Maria I. Garcia, Veronica Cornejo, Annet M. Bosch, Carla E. M. Hollak, M. Estela Rubio‐Gozalbo, Martijn C. G. J. Brouwers, Floris C. Hofstede, Maaike C. de Vries, Mirian C. H. Janssen, Ans T. van der Ploeg, Janneke G. Langendonk, Stephan C. J. Huijbregts, Francjan J. van Spronsen |
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| Přispěvatelé: | Pediatrics, Internal Medicine, Endocrinology, Paediatric Metabolic Diseases, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam Reproduction & Development (AR&D), Center for Liver, Digestive and Metabolic Diseases (CLDM), MUMC+: DA KG Lab Centraal Lab (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, Kindergeneeskunde, MUMC+: MA Medische Staf Kindergeneeskunde (9), Interne Geneeskunde, MUMC+: MA Endocrinologie (9), RS: Carim - V01 Vascular complications of diabetes and metabolic syndrome |
| Rok vydání: | 2022 |
| Předmět: |
Male
congenital hereditary and neonatal diseases and abnormalities NTBC TREATMENT phenylketonuria INHIBITION social cognition Neuropsychological Tests neurocognitive outcome PROFILE Amsterdam Neuropsychological Tasks TREATED PHENYLKETONURIA SDG 3 - Good Health and Well-being Phenylketonurias Genetics Tyrosinemia type 1 MANAGEMENT Phenylketonuria Humans Child Genetics (clinical) Tyrosinemias PHENYLALANINE nutritional and metabolic diseases Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6] executive functions Mental Health NITISINONE Human medicine ADULT PHENYLKETONURIA tyrosinemia type 1 Metabolic Networks and Pathways |
| Zdroj: | Journal of Inherited Metabolic Disease, 45, 5, pp. 952-962 Journal of Inherited Metabolic Disease, 45(5), 952-962. Springer Netherlands Journal of inherited metabolic disease, 45(5), 952-962. Springer Netherlands Journal of Inherited Metabolic Disease, 45(5), 952-962. SPRINGER Journal of Inherited Metabolic Disease, 45(5), 952-962. Wiley Journal of inherited metabolic disease Journal of Inherited Metabolic Disease, 45, 952-962 |
| ISSN: | 0141-8955 |
| Popis: | Tyrosinemia type 1 (TT1) and phenylketonuria (PKU) are both inborn errors of phenylalanine-tyrosine metabolism. Neurocognitive and behavioral outcomes have always featured in PKU research but received less attention in TT1 research. This study aimed to investigate and compare neurocognitive, behavioral, and social outcomes of treated TT1 and PKU patients. We included 33 TT1 patients (mean age 11.24 years; 16 male), 31 PKU patients (mean age 10.84; 14 male), and 58 age- and gender-matched healthy controls (mean age 10.82 years; 29 male). IQ (Wechsler-subtests), executive functioning (the Behavioral Rating Inventory of Executive Functioning), mental health (the Achenbach-scales), and social functioning (the Social Skills Rating System) were assessed. Results of TT1 patients, PKU patients, and healthy controls were compared using Kruskal-Wallis tests with post-hoc Mann-Whitney U tests. TT1 patients showed a lower IQ and poorer executive functioning, mental health, and social functioning compared to healthy controls and PKU patients. PKU patients did not differ from healthy controls regarding these outcome measures. Relatively poor outcomes for TT1 patients were particularly evident for verbal IQ, BRIEF dimensions "working memory", "plan and organize" and "monitor", ASEBA dimensions "social problems" and "attention problems", and for the SSRS "assertiveness" scale (all p values |
| Databáze: | OpenAIRE |
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