OBJECTIVE: Despite early dietary treatment phenylketonuria patients have lower IQ and poorer executive functions compared to healthy controls. Cognitive problems in phenylketonuria have often been associated with phenylalanine levels. The present study examined the cognitive profile and mental health in adult phenylketonuria, in relation to phenylalanine levels and tetrahydrobiopterin treatment. METHOD: Fifty-seven early treated adult patients with phenylketonuria and 57 healthy matched controls (18-40 years) performed IQ subtests and executive function tests from the Amsterdam Neuropsychological Tasks. They also completed the Adult Self-Report on mental health problems. Analyses of variance were performed to examine group differences. RESULTS: Patients with phenylketonuria had normal IQs although lower than controls. They performed poorer on working memory, inhibitory control, and sustained attention tasks. Patients reported Depressive and Avoidant Personality problems more frequently. Specifically, patients with childhood and lifetime phenylalanine ≥360 μmol/L had poorer cognitive and mental health outcomes than controls. In a subset of patients, comparisons between patients on and off tetrahydrobiopterin showed that nontetrahydrobiopterin users (matched for childhood, pretreatment phenylalanine) were slower (on number of tasks) and reported more mental health problems. CONCLUSIONS: Adult patients had lower IQ and poorer executive functions than controls, resembling problems observed in younger patients with phenylketonuria, as well as more internalizing problems. Group differences and phenylalanine-outcome associations were smaller than those observed in younger populations. A subset of nontetrahydrobiopterin users, matched for childhood phenylalanine level, had a poorer outcome on some tests than tetrahydrobiopterin users, which might indicate an impact of tetrahydrobiopterin treatment beyond lowering phenylalanine. However, clinical relevance needs further investigation. (PsycINFO Database Record (c) 2017 APA, all rights reserved).
OBJECTIVE: Despite early dietary treatment phenylketonuriapatients have lower IQ and poorer executive functions compared to healthy controls. Cognitive problems in phenylketonuria have often been associated with phenylalanine levels. The present study examined the cognitive profile and mental health in adult phenylketonuria, in relation to phenylalanine levels and tetrahydrobiopterin treatment. METHOD: Fifty-seven early treated adult patients with phenylketonuria and 57 healthy matched controls (18-40 years) performed IQ subtests and executive function tests from the Amsterdam Neuropsychological Tasks. They also completed the Adult Self-Report on mental health problems. Analyses of variance were performed to examine group differences. RESULTS:Patients with phenylketonuria had normal IQs although lower than controls. They performed poorer on working memory, inhibitory control, and sustained attention tasks. Patients reported Depressive and Avoidant Personality problems more frequently. Specifically, patients with childhood and lifetime phenylalanine ≥360 μmol/L had poorer cognitive and mental health outcomes than controls. In a subset of patients, comparisons between patients on and off tetrahydrobiopterin showed that nontetrahydrobiopterin users (matched for childhood, pretreatment phenylalanine) were slower (on number of tasks) and reported more mental health problems. CONCLUSIONS: Adult patients had lower IQ and poorer executive functions than controls, resembling problems observed in younger patients with phenylketonuria, as well as more internalizing problems. Group differences and phenylalanine-outcome associations were smaller than those observed in younger populations. A subset of nontetrahydrobiopterin users, matched for childhood phenylalanine level, had a poorer outcome on some tests than tetrahydrobiopterin users, which might indicate an impact of tetrahydrobiopterin treatment beyond lowering phenylalanine. However, clinical relevance needs further investigation. (PsycINFO Database Record (c) 2017 APA, all rights reserved).
Authors: Jan Václavík; Karlien L M Coene; Ivo Vrobel; Lukáš Najdekr; David Friedecký; Radana Karlíková; Lucie Mádrová; Aleksanteri Petsalo; Udo F H Engelke; Annemiek van Wegberg; Leo A J Kluijtmans; Tomáš Adam; Ron A Wevers Journal: J Inherit Metab Dis Date: 2017-11-14 Impact factor: 4.982
Authors: Danique van Vliet; Annemiek M J van Wegberg; Kirsten Ahring; Miroslaw Bik-Multanowski; Nenad Blau; Fatma D Bulut; Kari Casas; Bozena Didycz; Maja Djordjevic; Antonio Federico; François Feillet; Maria Gizewska; Gwendolyn Gramer; Jozef L Hertecant; Carla E M Hollak; Jens V Jørgensen; Daniela Karall; Yuval Landau; Vincenzo Leuzzi; Per Mathisen; Kathryn Moseley; Neslihan Ö Mungan; Francesca Nardecchia; Katrin Õunap; Kimberly K Powell; Radha Ramachandran; Frank Rutsch; Aria Setoodeh; Maja Stojiljkovic; Fritz K Trefz; Natalia Usurelu; Callum Wilson; Clara D van Karnebeek; William B Hanley; Francjan J van Spronsen Journal: Orphanet J Rare Dis Date: 2018-08-29 Impact factor: 4.123