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Quality of life and adherence to treatment in early-treated Brazilian phenylketonuria pediatric patients

Early dietary treatment of phenylketonuria (PKU), an inborn error of phenylalanine (Phe) metabolism, results in normal cognitive development. Although health-related quality of life (HRQoL) of PKU patients has been reported as unaffected in high-income countries, there are scarce data concerning HRQ...

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Autores principales: Vieira, E., Maia, H.S., Monteiro, C.B., Carvalho, L.M., Tonon, T., Vanz, A.P., Schwartz, I.V.D., Ribeiro, M.G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Associação Brasileira de Divulgação Científica 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5731329/
https://www.ncbi.nlm.nih.gov/pubmed/29267500
http://dx.doi.org/10.1590/1414-431X20176709
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author Vieira, E.
Maia, H.S.
Monteiro, C.B.
Carvalho, L.M.
Tonon, T.
Vanz, A.P.
Schwartz, I.V.D.
Ribeiro, M.G.
author_facet Vieira, E.
Maia, H.S.
Monteiro, C.B.
Carvalho, L.M.
Tonon, T.
Vanz, A.P.
Schwartz, I.V.D.
Ribeiro, M.G.
author_sort Vieira, E.
collection PubMed
description Early dietary treatment of phenylketonuria (PKU), an inborn error of phenylalanine (Phe) metabolism, results in normal cognitive development. Although health-related quality of life (HRQoL) of PKU patients has been reported as unaffected in high-income countries, there are scarce data concerning HRQoL and adherence to treatment of PKU children and adolescents from Brazil. The present study compared HRQoL scores in core dimensions of Brazilian early-treated PKU pediatric patients with those of a reference population, and explored possible relationships between adherence to treatment and HRQoL. Early-treated PKU pediatric patient HRQoL was evaluated by self- and parent-proxy reports of the Pediatric Quality of Life Inventory (PedsQL) core scales. Adherence to treatment was evaluated by median Phe levels and percentage of results within the therapeutic target range in two periods. Means for total and core scales scores of PedsQL self- and parent proxy-reports of PKU patients were significantly lower than their respective means for controls. Adequacy of median Phe concentrations and the mean percentage of values in the target range fell substantially from the first year of life to the last year of this study. There was no significant difference in mean total and core scale scores for self- and parent proxy-reports between patients with adequate and those with inadequate median Phe concentrations. The harmful consequences for intellectual capacity caused by poor adherence to dietary treatment could explain the observed decrease in all HRQoL scales, especially in school functioning. Healthcare system and financial difficulties may also have influenced negatively all HRQoL dimensions.
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spelling pubmed-57313292017-12-28 Quality of life and adherence to treatment in early-treated Brazilian phenylketonuria pediatric patients Vieira, E. Maia, H.S. Monteiro, C.B. Carvalho, L.M. Tonon, T. Vanz, A.P. Schwartz, I.V.D. Ribeiro, M.G. Braz J Med Biol Res Research Articles Early dietary treatment of phenylketonuria (PKU), an inborn error of phenylalanine (Phe) metabolism, results in normal cognitive development. Although health-related quality of life (HRQoL) of PKU patients has been reported as unaffected in high-income countries, there are scarce data concerning HRQoL and adherence to treatment of PKU children and adolescents from Brazil. The present study compared HRQoL scores in core dimensions of Brazilian early-treated PKU pediatric patients with those of a reference population, and explored possible relationships between adherence to treatment and HRQoL. Early-treated PKU pediatric patient HRQoL was evaluated by self- and parent-proxy reports of the Pediatric Quality of Life Inventory (PedsQL) core scales. Adherence to treatment was evaluated by median Phe levels and percentage of results within the therapeutic target range in two periods. Means for total and core scales scores of PedsQL self- and parent proxy-reports of PKU patients were significantly lower than their respective means for controls. Adequacy of median Phe concentrations and the mean percentage of values in the target range fell substantially from the first year of life to the last year of this study. There was no significant difference in mean total and core scale scores for self- and parent proxy-reports between patients with adequate and those with inadequate median Phe concentrations. The harmful consequences for intellectual capacity caused by poor adherence to dietary treatment could explain the observed decrease in all HRQoL scales, especially in school functioning. Healthcare system and financial difficulties may also have influenced negatively all HRQoL dimensions. Associação Brasileira de Divulgação Científica 2017-12-11 /pmc/articles/PMC5731329/ /pubmed/29267500 http://dx.doi.org/10.1590/1414-431X20176709 Text en https://creativecommons.org/licenses/by/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Articles
Vieira, E.
Maia, H.S.
Monteiro, C.B.
Carvalho, L.M.
Tonon, T.
Vanz, A.P.
Schwartz, I.V.D.
Ribeiro, M.G.
Quality of life and adherence to treatment in early-treated Brazilian phenylketonuria pediatric patients
title Quality of life and adherence to treatment in early-treated Brazilian phenylketonuria pediatric patients
title_full Quality of life and adherence to treatment in early-treated Brazilian phenylketonuria pediatric patients
title_fullStr Quality of life and adherence to treatment in early-treated Brazilian phenylketonuria pediatric patients
title_full_unstemmed Quality of life and adherence to treatment in early-treated Brazilian phenylketonuria pediatric patients
title_short Quality of life and adherence to treatment in early-treated Brazilian phenylketonuria pediatric patients
title_sort quality of life and adherence to treatment in early-treated brazilian phenylketonuria pediatric patients
topic Research Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5731329/
https://www.ncbi.nlm.nih.gov/pubmed/29267500
http://dx.doi.org/10.1590/1414-431X20176709
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