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Tytuł:
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Cognitive profile and mental health in adult phenylketonuria: A PKU-COBESO study.
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Autorzy:
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Jahja R; Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen.
Huijbregts SCJ; Department of Clinical Child and Adolescent Studies, Leiden University.
de Sonneville LMJ; Department of Clinical Child and Adolescent Studies, Leiden University.
van der Meere JJ; Department of Developmental and Clinical Neuropsychology, University of Groningen.
Legemaat AM; Department of Developmental and Clinical Neuropsychology, University of Groningen.
Bosch AM; Academic Medical Center.
Hollak CEM; Academic Medical Center.
Rubio-Gozalbo ME; University Hospital Maastricht.
Brouwers MCGJ; Department of Internal Medicine, Division of Endocrinology and Metabolic Diseases, University Hospital Maastricht.
Hofstede FC; Wilhelmina Children's Hospital, University Medical Center Utrecht.
de Vries MC; University Medical Center St. Radboud Nijmegen.
Janssen MCH; University Medical Center St. Radboud Nijmegen.
van der Ploeg AT; Erasmus Medical Center.
Langendonk JG; Erasmus Medical Center.
van Spronsen FJ; Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen.
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Źródło:
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Neuropsychology [Neuropsychology] 2017 May; Vol. 31 (4), pp. 437-447. Date of Electronic Publication: 2017 Mar 20.
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Typ publikacji:
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Journal Article
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Język:
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English
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Imprint Name(s):
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Publication: Washington Dc : American Psychological Association
Original Publication: Philadelphia, PA : Philadelphia Clinical Neuropsychology Group, c1987-
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MeSH Terms:
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Cognition*
Mental Health*
Phenylketonurias/*psychology
Adolescent ; Adult ; Attention ; Biopterins/analogs & derivatives ; Biopterins/therapeutic use ; Depression/etiology ; Depression/psychology ; Executive Function ; Female ; Health Status ; Humans ; Inhibition, Psychological ; Intelligence Tests ; Male ; Memory, Short-Term ; Personality Disorders/etiology ; Personality Disorders/psychology ; Phenylalanine/blood ; Phenylketonurias/blood ; Phenylketonurias/drug therapy ; Self Report ; Young Adult
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Substance Nomenclature:
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0 (Biopterins)
47E5O17Y3R (Phenylalanine)
EGX657432I (sapropterin)
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Entry Date(s):
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Date Created: 20170321 Date Completed: 20180104 Latest Revision: 20231213
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Update Code:
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20240105
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DOI:
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10.1037/neu0000358
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PMID:
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28318283
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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).)
