Publication

Cognitive Profile and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study

Jahja, R., van der Meere, J. J., Legemaat, A. M., Rubio-Gozalbo, M. E., Hofstede, F. C., van der Ploeg, A. T., Langendonk, J. G., Huijbregts, S. C. J., de Sonneville, L. M. J., Bosch, A. M., Hollak, C. E. M., Brouwers, M. C. G. J., de Vries, M. C., Janssen, M. C. H. & van Spronsen, F. J., May-2017, In : Neuropsychology. 31, 4, p. 437-447 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

APA

Jahja, R., van der Meere, J. J., Legemaat, A. M., Rubio-Gozalbo, M. E., Hofstede, F. C., van der Ploeg, A. T., ... van Spronsen, F. J. (2017). Cognitive Profile and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study. Neuropsychology, 31(4), 437-447. https://doi.org/10.1037/neu0000358

Author

Jahja, Rianne ; van der Meere, Jaap J. ; Legemaat, Amanda M. ; Rubio-Gozalbo, M. Estela ; Hofstede, Floris C. ; van der Ploeg, Ans T. ; Langendonk, Janneke G. ; Huijbregts, Stephan C. J. ; de Sonneville, Leo M. J. ; Bosch, Annet M. ; Hollak, Carla E. M. ; Brouwers, Martijn C. G. J. ; de Vries, Maaike C. ; Janssen, Mirian C. H. ; van Spronsen, Francjan J. / Cognitive Profile and Mental Health in Adult Phenylketonuria : A PKU-COBESO Study. In: Neuropsychology. 2017 ; Vol. 31, No. 4. pp. 437-447.

Harvard

Jahja, R, van der Meere, JJ, Legemaat, AM, Rubio-Gozalbo, ME, Hofstede, FC, van der Ploeg, AT, Langendonk, JG, Huijbregts, SCJ, de Sonneville, LMJ, Bosch, AM, Hollak, CEM, Brouwers, MCGJ, de Vries, MC, Janssen, MCH & van Spronsen, FJ 2017, 'Cognitive Profile and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study', Neuropsychology, vol. 31, no. 4, pp. 437-447. https://doi.org/10.1037/neu0000358

Standard

Cognitive Profile and Mental Health in Adult Phenylketonuria : A PKU-COBESO Study. / Jahja, Rianne; van der Meere, Jaap J.; Legemaat, Amanda M.; Rubio-Gozalbo, M. Estela; Hofstede, Floris C.; van der Ploeg, Ans T.; Langendonk, Janneke G.; Huijbregts, Stephan C. J.; de Sonneville, Leo M. J.; Bosch, Annet M.; Hollak, Carla E. M.; Brouwers, Martijn C. G. J.; de Vries, Maaike C.; Janssen, Mirian C. H.; van Spronsen, Francjan J.

In: Neuropsychology, Vol. 31, No. 4, 05.2017, p. 437-447.

Research output: Contribution to journalArticleAcademicpeer-review

Vancouver

Jahja R, van der Meere JJ, Legemaat AM, Rubio-Gozalbo ME, Hofstede FC, van der Ploeg AT et al. Cognitive Profile and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study. Neuropsychology. 2017 May;31(4):437-447. https://doi.org/10.1037/neu0000358


BibTeX

@article{6f46511e15e14830abc8553309d92ede,
title = "Cognitive Profile and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study",
abstract = "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 mu mol/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.",
keywords = "phenylketonuria, adults, executive functions, mental health, tetrahydrobiopterin, EARLY-TREATED PHENYLKETONURIA, EXECUTIVE FUNCTION IMPAIRMENT, BLOOD PHENYLALANINE LEVELS, TETRAHYDROBIOPTERIN BH4, CHILDREN, ADOLESCENTS, SAPROPTERIN, METAANALYSIS, INDIVIDUALS, INHIBITION",
author = "Rianne Jahja and {van der Meere}, {Jaap J.} and Legemaat, {Amanda M.} and Rubio-Gozalbo, {M. Estela} and Hofstede, {Floris C.} and {van der Ploeg}, {Ans T.} and Langendonk, {Janneke G.} and Huijbregts, {Stephan C. J.} and {de Sonneville}, {Leo M. J.} and Bosch, {Annet M.} and Hollak, {Carla E. M.} and Brouwers, {Martijn C. G. J.} and {de Vries}, {Maaike C.} and Janssen, {Mirian C. H.} and {van Spronsen}, {Francjan J.}",
year = "2017",
month = "5",
doi = "10.1037/neu0000358",
language = "English",
volume = "31",
pages = "437--447",
journal = "Neuropsychology",
issn = "0894-4105",
publisher = "AMER PSYCHOLOGICAL ASSOC",
number = "4",

}

RIS

TY - JOUR

T1 - Cognitive Profile and Mental Health in Adult Phenylketonuria

T2 - A PKU-COBESO Study

AU - Jahja, Rianne

AU - van der Meere, Jaap J.

AU - Legemaat, Amanda M.

AU - Rubio-Gozalbo, M. Estela

AU - Hofstede, Floris C.

AU - van der Ploeg, Ans T.

AU - Langendonk, Janneke G.

AU - Huijbregts, Stephan C. J.

AU - de Sonneville, Leo M. J.

AU - Bosch, Annet M.

AU - Hollak, Carla E. M.

AU - Brouwers, Martijn C. G. J.

AU - de Vries, Maaike C.

AU - Janssen, Mirian C. H.

AU - van Spronsen, Francjan J.

PY - 2017/5

Y1 - 2017/5

N2 - 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 mu mol/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.

AB - 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 mu mol/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.

KW - phenylketonuria

KW - adults

KW - executive functions

KW - mental health

KW - tetrahydrobiopterin

KW - EARLY-TREATED PHENYLKETONURIA

KW - EXECUTIVE FUNCTION IMPAIRMENT

KW - BLOOD PHENYLALANINE LEVELS

KW - TETRAHYDROBIOPTERIN BH4

KW - CHILDREN

KW - ADOLESCENTS

KW - SAPROPTERIN

KW - METAANALYSIS

KW - INDIVIDUALS

KW - INHIBITION

U2 - 10.1037/neu0000358

DO - 10.1037/neu0000358

M3 - Article

VL - 31

SP - 437

EP - 447

JO - Neuropsychology

JF - Neuropsychology

SN - 0894-4105

IS - 4

ER -

ID: 47257236