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

Autor:	Vieira E Neto; Agência Nacional de Saúde Suplementar, Rio de Janeiro, RJ, Brasil.; Instituto de Puericultura e Pediatria Martagão Gesteira, Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brasil., Maia HS Filho; Departamento Materno-Infantil, Faculdade de Medicina, Universidade Federal Fluminense, Niterói, RJ, Brasil., Monteiro CB; Núcleo de Estudos da Saúde do Adolescente, Universidade do Estado do Rio de Janeiro, Rio de Janeiro, RJ, Brasil., Carvalho LM; Instituto Estadual de Diabetes e Endocrinologia Luiz Capriglione, Rio de Janeiro, RJ, Brasil., Tonon T; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brasil.; Programa de Pós Graduação em Ciências Médicas, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brasil., Vanz AP; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brasil., Schwartz IVD; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brasil.; Departamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brasil., Ribeiro MG; Instituto de Puericultura e Pediatria Martagão Gesteira, Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brasil.
Jazyk:	angličtina
Zdroj:	Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas [Braz J Med Biol Res] 2017 Dec 11; Vol. 51 (2), pp. e6709. Date of Electronic Publication: 2017 Dec 11.
DOI:	10.1590/1414-431X20176709
Abstrakt:	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.
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu