ArticleBrazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologica2017
Quality of life and adherence to treatment in early-treated Brazilian phenylketonuria pediatric patients.
Article in Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologica, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Burden of phenylketonuria in Latin American patients: a systematic review and meta-analysis of observational studies.Orphanet journal of rare diseases · 2022Pooled it
- Genetic landscape of phenylketonuria in Brazil.Orphanet journal of rare diseases · 2026Article
- Health-Related Quality of Life in Pediatric Hepatic Glycogen Storage Disease: A Dual-Perspective Study.Nutrients · 2026Article
- Impact of depression on quality of life in PKU children.European journal of pediatrics · 2026Article
- Article
- Psychometric properties of perceived barriers to PKU treatment inventory in a Brazilian national sample.Orphanet journal of rare diseases · 2025Observational
- Patient journey and disease burden characterization of the population with phenylketonuria (PKU) in Brazil: a retrospective analysis through data reported in the public health system administrative database (DATASUS).Lancet regional health. Americas · 2025Article
- What is known about patients' quality of life with Phenylketonuria and their caregivers? A scoping review.Orphanet journal of rare diseases · 2024Article
- [Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2024Article
- Quality of Life in Patients with Phenylketonuria: A Systematic Review.Advanced biomedical research · 2024Review
- Relationship satisfaction in adults with phenylketonuria is positively associated with following recommended treatment, having a partner involved in management, and maintaining good health.Journal of community genetics · 2023Article
- Molecular characterization of phenylketonuria patients from the North Region of Brazil: State of Pará.Molecular genetics & genomic medicine · 2023Article
- Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria.Nutrients · 2023Article
- Neuropsychological and quality of life outcomes in PKU patients: expert recommendations of assessment tools in Brazil.Arquivos de neuro-psiquiatria · 2023Review
- Quality of life in children living with PKU - a single-center, cross-sectional, observational study from Hungary.Molecular genetics and metabolism reports · 2021Article
- Current Practices and Challenges in the Diagnosis and Management of PKU in Latin America: A Multicenter Survey.Nutrients · 2021Article
- Phenylketonuria.Nature reviews. Disease primers · 2021Review
- Article
- Similarities and differences in key diagnosis, treatment, and management approaches for PAH deficiency in the United States and Europe.Orphanet journal of rare diseases · 2020Review
- Development of an inventory to assess perceived barriers related to PKU treatment.Journal of patient-reported outcomes · 2020Article
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Authors and funding
8 authors.
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Abstract
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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