Quality of life in children living with PKU – a single-center, cross-sectional, observational study from Hungary

Background: Phenylketonuria (PKU) is an inherited error of metabolism, screened at 48–72 h of life since 1975 in Hungary. The patients have to keep a strict lifelong protein-restricted diet, resulting in PKU and its treatment can lead to social and financial burdens. The current study aimed to evalu...

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Autores principales:	Dóra Becsei, Réka Hiripi, Erika Kiss, Ildiko Szatmári, András Arató, György Reusz, Attila J. Szabó, János Bókay, Petra Zsidegh
Formato:	article
Lenguaje:	EN
Publicado:	Elsevier 2021
Materias:	PKU Phenylketonuria HRQoL Health-related quality of life Children Parents Medicine (General) R5-920 Biology (General) QH301-705.5
Acceso en línea:	https://doaj.org/article/c86b781c43d54dd8be711f5703206934
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spelling	oai:doaj.org-article:c86b781c43d54dd8be711f57032069342021-11-18T04:48:58ZQuality of life in children living with PKU – a single-center, cross-sectional, observational study from Hungary2214-426910.1016/j.ymgmr.2021.100823https://doaj.org/article/c86b781c43d54dd8be711f57032069342021-12-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S221442692100118Xhttps://doaj.org/toc/2214-4269Background: Phenylketonuria (PKU) is an inherited error of metabolism, screened at 48–72 h of life since 1975 in Hungary. The patients have to keep a strict lifelong protein-restricted diet, resulting in PKU and its treatment can lead to social and financial burdens. The current study aimed to evaluate the health-related quality of life (HRQoL) of children living with PKU. Patients and methods: A single-centre, cross-sectional, observational study was conducted at the Center of Newborn Screening and Inherited Metabolic Disorders of Budapest, Hungary, using the PKU-quality of life (PKU-QoL) questionnaire. Responses of 59 parents and 11 teenagers were collected. Numerous aspects regarding HRQoL were analysed according to clinical compliance and severity. The patients were classified into groups with good or suboptimal adherence based on regular phenylalanine (Phe) values. The online officially translated versions of the adolescent or parental PKU-QoL questionnaire were used and analysed anonymously. Differences in HRQoL were compared - PKU vs. Hyperphenylalaninaemia (HPA) and good vs. suboptimal adherence. Results: Twenty-five of 32 examined parameters had no or little impact on HRQoL. The most frequently reported symptom was irritability. Food enjoyment was the most impacted domain, with a major severity score in the adolescent group (median 62,5, IQR: 25–75). The emotional impact was scored at moderate severity by both the adolescents and parents. Classical PKU patients with good metabolic control were more frequently tired than HPA patients (0,0027). The group with poor metabolic adherence showed more frequent tiredness (p = 0,03), slow thinking (p = 0,018) and anxiety (p = 0,015). Conclusion: Overall, our patients showed an excellent HRQoL; most domains (29/36) were reported as little/no impacted. Worse QoL was found in patients with suboptimal metabolic control. Particular attention should be paid to the emotional health of PKU patients.Dóra BecseiRéka HiripiErika KissIldiko SzatmáriAndrás AratóGyörgy ReuszAttila J. SzabóJános BókayPetra ZsideghElsevierarticlePKUPhenylketonuriaHRQoLHealth-related quality of lifeChildrenParentsMedicine (General)R5-920Biology (General)QH301-705.5ENMolecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100823- (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	PKU Phenylketonuria HRQoL Health-related quality of life Children Parents Medicine (General) R5-920 Biology (General) QH301-705.5
spellingShingle	PKU Phenylketonuria HRQoL Health-related quality of life Children Parents Medicine (General) R5-920 Biology (General) QH301-705.5 Dóra Becsei Réka Hiripi Erika Kiss Ildiko Szatmári András Arató György Reusz Attila J. Szabó János Bókay Petra Zsidegh Quality of life in children living with PKU – a single-center, cross-sectional, observational study from Hungary
description	Background: Phenylketonuria (PKU) is an inherited error of metabolism, screened at 48–72 h of life since 1975 in Hungary. The patients have to keep a strict lifelong protein-restricted diet, resulting in PKU and its treatment can lead to social and financial burdens. The current study aimed to evaluate the health-related quality of life (HRQoL) of children living with PKU. Patients and methods: A single-centre, cross-sectional, observational study was conducted at the Center of Newborn Screening and Inherited Metabolic Disorders of Budapest, Hungary, using the PKU-quality of life (PKU-QoL) questionnaire. Responses of 59 parents and 11 teenagers were collected. Numerous aspects regarding HRQoL were analysed according to clinical compliance and severity. The patients were classified into groups with good or suboptimal adherence based on regular phenylalanine (Phe) values. The online officially translated versions of the adolescent or parental PKU-QoL questionnaire were used and analysed anonymously. Differences in HRQoL were compared - PKU vs. Hyperphenylalaninaemia (HPA) and good vs. suboptimal adherence. Results: Twenty-five of 32 examined parameters had no or little impact on HRQoL. The most frequently reported symptom was irritability. Food enjoyment was the most impacted domain, with a major severity score in the adolescent group (median 62,5, IQR: 25–75). The emotional impact was scored at moderate severity by both the adolescents and parents. Classical PKU patients with good metabolic control were more frequently tired than HPA patients (0,0027). The group with poor metabolic adherence showed more frequent tiredness (p = 0,03), slow thinking (p = 0,018) and anxiety (p = 0,015). Conclusion: Overall, our patients showed an excellent HRQoL; most domains (29/36) were reported as little/no impacted. Worse QoL was found in patients with suboptimal metabolic control. Particular attention should be paid to the emotional health of PKU patients.
format	article
author	Dóra Becsei Réka Hiripi Erika Kiss Ildiko Szatmári András Arató György Reusz Attila J. Szabó János Bókay Petra Zsidegh
author_facet	Dóra Becsei Réka Hiripi Erika Kiss Ildiko Szatmári András Arató György Reusz Attila J. Szabó János Bókay Petra Zsidegh
author_sort	Dóra Becsei
title	Quality of life in children living with PKU – a single-center, cross-sectional, observational study from Hungary
title_short	Quality of life in children living with PKU – a single-center, cross-sectional, observational study from Hungary
title_full	Quality of life in children living with PKU – a single-center, cross-sectional, observational study from Hungary
title_fullStr	Quality of life in children living with PKU – a single-center, cross-sectional, observational study from Hungary
title_full_unstemmed	Quality of life in children living with PKU – a single-center, cross-sectional, observational study from Hungary
title_sort	quality of life in children living with pku – a single-center, cross-sectional, observational study from hungary
publisher	Elsevier
publishDate	2021
url	https://doaj.org/article/c86b781c43d54dd8be711f5703206934
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Quality of life in children living with PKU – a single-center, cross-sectional, observational study from Hungary

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