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 investig...
| Main Authors: | , , , , , , , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2019-12-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-019-1259-2 |
| _version_ | 1819073657762217984 |
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| author | Kimber van Vliet Willem G. van Ginkel Rianne Jahja Anne Daly Anita MacDonald Corinne De Laet Roshni Vara Yusof Rahman David Cassiman Francois Eyskens Corrie Timmer Nicky Mumford Jörgen Bierau Peter M. van Hasselt Paul Gissen Philippe J. Goyens Patrick J. McKiernan Gisela Wilcox Andrew A. M. Morris Elisabeth A. Jameson Stephan C. J. Huijbregts Francjan J. van Spronsen |
| author_facet | Kimber van Vliet Willem G. van Ginkel Rianne Jahja Anne Daly Anita MacDonald Corinne De Laet Roshni Vara Yusof Rahman David Cassiman Francois Eyskens Corrie Timmer Nicky Mumford Jörgen Bierau Peter M. van Hasselt Paul Gissen Philippe J. Goyens Patrick J. McKiernan Gisela Wilcox Andrew A. M. Morris Elisabeth A. Jameson Stephan C. J. Huijbregts Francjan J. van Spronsen |
| author_sort | Kimber van Vliet |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-21T17:57:07Z |
| format | Article |
| id | doaj.art-456f9a0c82e24d62a934b9c10dcac704 |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-12-21T17:57:07Z |
| publishDate | 2019-12-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-456f9a0c82e24d62a934b9c10dcac7042022-12-21T18:55:11ZengBMCOrphanet Journal of Rare Diseases1750-11722019-12-011411910.1186/s13023-019-1259-2Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patientsKimber van Vliet0Willem G. van Ginkel1Rianne Jahja2Anne Daly3Anita MacDonald4Corinne De Laet5Roshni Vara6Yusof Rahman7David Cassiman8Francois Eyskens9Corrie Timmer10Nicky Mumford11Jörgen Bierau12Peter M. van Hasselt13Paul Gissen14Philippe J. Goyens15Patrick J. McKiernan16Gisela Wilcox17Andrew A. M. Morris18Elisabeth A. Jameson19Stephan C. J. Huijbregts20Francjan J. van Spronsen21Beatrix Children’s Hospital, Groningen, Division of Metabolic Diseases, University of Groningen, University Medical Center GroningenBeatrix Children’s Hospital, Groningen, Division of Metabolic Diseases, University of Groningen, University Medical Center GroningenBeatrix Children’s Hospital, Groningen, Division of Metabolic Diseases, University of Groningen, University Medical Center GroningenBirmingham Children’s HospitalBirmingham Children’s HospitalHôpital Universitaire des Enfants Reine Fabiola, Université Libre de BruxellesEvelina London Children’s HospitalGuy’s and St. Thomas’ HospitalUniversity Hospital Gasthuisberg, University of LeuvenKon. Mathilde Moeder- en Kindcentrum, University Hospital of AntwerpAcademic Medical CenterThe NIHR Great Ormond Street Hospital Biomedical Research Centre (BRC )Maastricht University Medical CenterWilhelmina Children’s Hospital, University Medical Center Utrecht, UtrechtThe NIHR Great Ormond Street Hospital Biomedical Research Centre (BRC )Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de BruxellesBirmingham Children’s HospitalSchool of Medical Sciences, Faculty of Biology Medicine & Health, University of ManchesterWillink Metabolic Unit, Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, St Mary’s HospitalWillink Metabolic Unit, Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, St Mary’s HospitalUniversity of Leiden, Clinical Child and Adolescent Studies: Neurodevelopmental DisordersBeatrix Children’s Hospital, Groningen, Division of Metabolic Diseases, University of Groningen, University Medical Center GroningenAbstract 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.https://doi.org/10.1186/s13023-019-1259-2Tyrosinemia type 1Behavior problemsHealth related-quality of lifePhenylalanineTyrosine |
| spellingShingle | Kimber van Vliet Willem G. van Ginkel Rianne Jahja Anne Daly Anita MacDonald Corinne De Laet Roshni Vara Yusof Rahman David Cassiman Francois Eyskens Corrie Timmer Nicky Mumford Jörgen Bierau Peter M. van Hasselt Paul Gissen Philippe J. Goyens Patrick J. McKiernan Gisela Wilcox Andrew A. M. Morris Elisabeth A. Jameson Stephan C. J. Huijbregts Francjan J. van Spronsen Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients Orphanet Journal of Rare Diseases Tyrosinemia type 1 Behavior problems Health related-quality of life Phenylalanine Tyrosine |
| title | Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients |
| title_full | Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients |
| title_fullStr | Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients |
| title_full_unstemmed | Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients |
| title_short | Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients |
| title_sort | emotional and behavioral problems quality of life and metabolic control in ntbc treated tyrosinemia type 1 patients |
| topic | Tyrosinemia type 1 Behavior problems Health related-quality of life Phenylalanine Tyrosine |
| url | https://doi.org/10.1186/s13023-019-1259-2 |
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