Publication

Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients

van Vliet, K., van Ginkel, W. G., Jahja, R., Daly, A., MacDonald, A., De Laet, C., Vara, R., Rahman, Y., Cassiman, D., Eyskens, F., Timmer, C., Mumford, N., Bierau, J., van Hasselt, P. M., Gissen, P., Goyens, P. J., McKiernan, P. J., Wilcox, G., Morris, A. A. M., Jameson, E. A., Huijbregts, S. C. J. & van Spronsen, F. J., 4-Dec-2019, In : Orphanet journal of rare diseases. 14, 1, 9 p., 285.

Research output: Contribution to journalArticleAcademicpeer-review

APA

van Vliet, K., van Ginkel, W. G., Jahja, R., Daly, A., MacDonald, A., De Laet, C., Vara, R., Rahman, Y., Cassiman, D., Eyskens, F., Timmer, C., Mumford, N., Bierau, J., van Hasselt, P. M., Gissen, P., Goyens, P. J., McKiernan, P. J., Wilcox, G., Morris, A. A. M., ... van Spronsen, F. J. (2019). Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients. Orphanet journal of rare diseases, 14(1), [285]. https://doi.org/10.1186/s13023-019-1259-2

Author

van Vliet, Kimber ; van Ginkel, Willem G ; Jahja, Rianne ; Daly, Anne ; MacDonald, Anita ; De Laet, Corinne ; Vara, Roshni ; Rahman, Yusof ; Cassiman, David ; Eyskens, Francois ; Timmer, Corrie ; Mumford, Nicky ; Bierau, Jörgen ; van Hasselt, Peter M ; Gissen, Paul ; Goyens, Philippe J ; McKiernan, Patrick J ; Wilcox, Gisela ; Morris, Andrew A M ; Jameson, Elisabeth A ; Huijbregts, Stephan C J ; van Spronsen, Francjan J. / Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients. In: Orphanet journal of rare diseases. 2019 ; Vol. 14, No. 1.

Harvard

van Vliet, K, van Ginkel, WG, Jahja, R, Daly, A, MacDonald, A, De Laet, C, Vara, R, Rahman, Y, Cassiman, D, Eyskens, F, Timmer, C, Mumford, N, Bierau, J, van Hasselt, PM, Gissen, P, Goyens, PJ, McKiernan, PJ, Wilcox, G, Morris, AAM, Jameson, EA, Huijbregts, SCJ & van Spronsen, FJ 2019, 'Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients', Orphanet journal of rare diseases, vol. 14, no. 1, 285. https://doi.org/10.1186/s13023-019-1259-2

Standard

Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients. / van Vliet, Kimber; van Ginkel, Willem G; Jahja, Rianne; Daly, Anne; MacDonald, Anita; De Laet, Corinne; Vara, Roshni; Rahman, Yusof; Cassiman, David; Eyskens, Francois; Timmer, Corrie; Mumford, Nicky; Bierau, Jörgen; van Hasselt, Peter M; Gissen, Paul; Goyens, Philippe J; McKiernan, Patrick J; Wilcox, Gisela; Morris, Andrew A M; Jameson, Elisabeth A; Huijbregts, Stephan C J; van Spronsen, Francjan J.

In: Orphanet journal of rare diseases, Vol. 14, No. 1, 285, 04.12.2019.

Research output: Contribution to journalArticleAcademicpeer-review

Vancouver

van Vliet K, van Ginkel WG, Jahja R, Daly A, MacDonald A, De Laet C et al. Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients. Orphanet journal of rare diseases. 2019 Dec 4;14(1). 285. https://doi.org/10.1186/s13023-019-1259-2


BibTeX

@article{e2ae0b5df1d94918b5f1263d759de7a7,
title = "Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients",
abstract = "Background: Treatment with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) and dietary phenylalanine and tyrosine restriction improves physical health and life expectancy in Tyrosinemia type 1 (TT1). However, neurocognitive outcome is suboptimal. This study aimed to investigate behavior problems and health-related quality of life (HR-QoL) in NTBC-dietary-treated TT1 and to relate this to phenylalanine and tyrosine concentrations.Results: Thirty-one TT1 patients (19 males; mean age 13.9 +/- 5.3 years) were included in this study. Emotional and behavioral problems, as measured by the Achenbach System of Empirically Based Assessment, were present in almost all domains. Attention and thought problems were particularly evident. HR-QoL was assessed by the TNO AZL Children's and Adults QoL questionnaires. Poorer HR-QoL as compared to reference populations was observed for the domains: independent daily functioning, cognitive functioning and school performance, social contacts, motor functioning, and vitality. Both internalizing and externalizing behavior problems were associated with low phenylalanine (and associated lower tyrosine) concentrations during the first year of life. In contrast, high tyrosine (and associated higher phenylalanine) concentrations during life and specifically the last year before testing were associated with more internalizing behavior and/or HR-QoL problems.Conclusions: TT1 patients showed several behavior problems and a lower HR-QoL. Associations with metabolic control differed for different age periods. This suggests the need for continuous fine-tuning and monitoring of dietary treatment to keep phenylalanine and tyrosine concentrations within target ranges in NTBC-treated TT1 patients.",
keywords = "Tyrosinemia type 1, Behavior problems, Health related-quality of life, Phenylalanine, Tyrosine, PHENYLKETONURIA, PHENYLALANINE, NITISINONE, HEALTH",
author = "{van Vliet}, Kimber and {van Ginkel}, {Willem G} and Rianne Jahja and Anne Daly and Anita MacDonald and {De Laet}, Corinne and Roshni Vara and Yusof Rahman and David Cassiman and Francois Eyskens and Corrie Timmer and Nicky Mumford and J{\"o}rgen Bierau and {van Hasselt}, {Peter M} and Paul Gissen and Goyens, {Philippe J} and McKiernan, {Patrick J} and Gisela Wilcox and Morris, {Andrew A M} and Jameson, {Elisabeth A} and Huijbregts, {Stephan C J} and {van Spronsen}, {Francjan J}",
year = "2019",
month = dec,
day = "4",
doi = "10.1186/s13023-019-1259-2",
language = "English",
volume = "14",
journal = "Orphanet journal of rare diseases",
issn = "1750-1172",
publisher = "BMC",
number = "1",

}

RIS

TY - JOUR

T1 - Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients

AU - van Vliet, Kimber

AU - van Ginkel, Willem G

AU - Jahja, Rianne

AU - Daly, Anne

AU - MacDonald, Anita

AU - De Laet, Corinne

AU - Vara, Roshni

AU - Rahman, Yusof

AU - Cassiman, David

AU - Eyskens, Francois

AU - Timmer, Corrie

AU - Mumford, Nicky

AU - Bierau, Jörgen

AU - van Hasselt, Peter M

AU - Gissen, Paul

AU - Goyens, Philippe J

AU - McKiernan, Patrick J

AU - Wilcox, Gisela

AU - Morris, Andrew A M

AU - Jameson, Elisabeth A

AU - Huijbregts, Stephan C J

AU - van Spronsen, Francjan J

PY - 2019/12/4

Y1 - 2019/12/4

N2 - Background: Treatment with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) and dietary phenylalanine and tyrosine restriction improves physical health and life expectancy in Tyrosinemia type 1 (TT1). However, neurocognitive outcome is suboptimal. This study aimed to investigate behavior problems and health-related quality of life (HR-QoL) in NTBC-dietary-treated TT1 and to relate this to phenylalanine and tyrosine concentrations.Results: Thirty-one TT1 patients (19 males; mean age 13.9 +/- 5.3 years) were included in this study. Emotional and behavioral problems, as measured by the Achenbach System of Empirically Based Assessment, were present in almost all domains. Attention and thought problems were particularly evident. HR-QoL was assessed by the TNO AZL Children's and Adults QoL questionnaires. Poorer HR-QoL as compared to reference populations was observed for the domains: independent daily functioning, cognitive functioning and school performance, social contacts, motor functioning, and vitality. Both internalizing and externalizing behavior problems were associated with low phenylalanine (and associated lower tyrosine) concentrations during the first year of life. In contrast, high tyrosine (and associated higher phenylalanine) concentrations during life and specifically the last year before testing were associated with more internalizing behavior and/or HR-QoL problems.Conclusions: TT1 patients showed several behavior problems and a lower HR-QoL. Associations with metabolic control differed for different age periods. This suggests the need for continuous fine-tuning and monitoring of dietary treatment to keep phenylalanine and tyrosine concentrations within target ranges in NTBC-treated TT1 patients.

AB - Background: Treatment with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) and dietary phenylalanine and tyrosine restriction improves physical health and life expectancy in Tyrosinemia type 1 (TT1). However, neurocognitive outcome is suboptimal. This study aimed to investigate behavior problems and health-related quality of life (HR-QoL) in NTBC-dietary-treated TT1 and to relate this to phenylalanine and tyrosine concentrations.Results: Thirty-one TT1 patients (19 males; mean age 13.9 +/- 5.3 years) were included in this study. Emotional and behavioral problems, as measured by the Achenbach System of Empirically Based Assessment, were present in almost all domains. Attention and thought problems were particularly evident. HR-QoL was assessed by the TNO AZL Children's and Adults QoL questionnaires. Poorer HR-QoL as compared to reference populations was observed for the domains: independent daily functioning, cognitive functioning and school performance, social contacts, motor functioning, and vitality. Both internalizing and externalizing behavior problems were associated with low phenylalanine (and associated lower tyrosine) concentrations during the first year of life. In contrast, high tyrosine (and associated higher phenylalanine) concentrations during life and specifically the last year before testing were associated with more internalizing behavior and/or HR-QoL problems.Conclusions: TT1 patients showed several behavior problems and a lower HR-QoL. Associations with metabolic control differed for different age periods. This suggests the need for continuous fine-tuning and monitoring of dietary treatment to keep phenylalanine and tyrosine concentrations within target ranges in NTBC-treated TT1 patients.

KW - Tyrosinemia type 1

KW - Behavior problems

KW - Health related-quality of life

KW - Phenylalanine

KW - Tyrosine

KW - PHENYLKETONURIA

KW - PHENYLALANINE

KW - NITISINONE

KW - HEALTH

U2 - 10.1186/s13023-019-1259-2

DO - 10.1186/s13023-019-1259-2

M3 - Article

C2 - 31801588

VL - 14

JO - Orphanet journal of rare diseases

JF - Orphanet journal of rare diseases

SN - 1750-1172

IS - 1

M1 - 285

ER -

ID: 117141210