Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients
Posted on 2019-12-05 - 05:28
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.
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Vliet, Kimber; Ginkel, Willem; Jahja, Rianne; Daly, Anne; MacDonald, Anita; Laet, Corinne; et al. (2019). Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients. figshare. Collection. https://doi.org/10.6084/m9.figshare.c.4770227
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AUTHORS (22)
KV
Kimber Vliet
WG
Willem Ginkel
RJ
Rianne Jahja
AD
Anne Daly
AM
Anita MacDonald
CL
Corinne Laet
RV
Roshni Vara
YR
Yusof Rahman
DC
David Cassiman
FE
Francois Eyskens
CT
Corrie Timmer
NM
Nicky Mumford
JB
Jörgen Bierau
PH
Peter Hasselt
PG
Paul Gissen
PG
Philippe Goyens
PM
Patrick McKiernan
GW
Gisela Wilcox
AM
Andrew Morris
EJ
Elisabeth Jameson