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

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.

Similarities and differences in key diagnosis, treatment, and management approaches for PAH deficiency in the United States and Europe

“…The ACMG and European experts view treatment adherence as a very serious concern. Exploring ways to improve dietary compliance is an area in need of research with the creation of appropriate, effective interventions [24]. Treatment adherence rests on time management and organizational skills to ensure good compliance, but there are challenges to maintaining the low protein diet, daily metabolic formula intake, and monitoring phenylalanine levels.…”

“…Evidence suggests that the 360 μmol/L upper target for phenylalanine levels may be too high and neurocognitive benefit may be observed at lower target values in some cases [23]. Early therapy initiation may preserve cognition, with attention problems and hyperactivity associated with poor treatment adherence [24]. In a study applying numerous tests and assessments in a modest number of early and consistently treated adults, lower IQ scores were appreciated compared to matched controls.…”

“…PAH deficiency management can negatively impact patients' lives, with age and occupation substantively influencing QoL outcomes [28,29]. Difficulty in adhering to treatment may affect QoL [24]. Adults with PAH deficiency reported lower healthrelated QoL in areas of cognition and mood, while affected children younger than age 12 on BH4 therapy reported similar QoL scores as their unaffected peers [30].…”

Fenilcetonúria associada à alergia à proteína do leite de vaca

“…PKU é um erro inato do metabolismo de herança autossômica recessiva, para o qual foi estabelecida uma estratégia de rastreio no período neonatal, a qual permite o diagnóstico e o tratamento precoce, evitando, principalmente, o dano neurológico [1][2][3] . A incidência de PKU é 1:25.000 no Brasil, sendo a doença metabólica mais comum entre as aminoacidopatias 3 .…”

“…É importante salientar que a interferência no tratamento orientado por um especialista, mesmo por desconhecimento da patologia, engloba uma discussão em torno de ética profissional, principalmente se o médico não tem a experiência para manejar a doença de base, podendo resultar em imperícia, negligência e/ou imprudência 6 , pois o tratamento da HPE é para toda a vida 1,2 , e a ausência do tratamento leva à lesão neurológica 2,3 . No caso, a paciente teve atraso de desenvolvimento neurológico, recuperado com a terapia, porém de forma parcial, sendo prejudicada no desempenho escolar.…”