Health-related quality of life in a european sample of adults with early-treated classical PKU

Background: Phenylketonuria (PKU) is a rare inborn error of metabolism affecting the catabolism of phenylalanine (Phe). To date, findings regarding health-related quality of life (HRQoL) in adults with early-treated classical PKU are discrepant. Moreover, little is known about metabolic, demographic...

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Autores: Maissen-Abgottspon, S., Muri, R., Hochuli, M., Reismann, P., Barta, A.G., Alptekin, I.M., Hermida Ameijeiras, Alvaro, Burlina, A.P., Burlina, A.B., Cazzorla, C., Carretta, J., Trepp, R., Everts, R.
Tipo de recurso: artículo
Fecha de publicación:2023
País:España
Institución:Servizo Galego de Saúde (SERGAS)
Repositorio:RUNA. Repositorio da Consellería de Sanidade e Sergas
OAI Identifier:oai:runa.sergas.gal:20.500.11940/21551
Acceso en línea:https://portalcientifico.sergas.gal//documentos/6522c806ec1a10197ffd97b2
http://hdl.handle.net/20.500.11940/21551
Access Level:acceso abierto
Palabra clave:Infant, Newborn
Pregnancy
Humans
Adult
Female
Quality of Life
Cross-Sectional Studies
Phenylketonurias
Health Status
Neonatal Screening
Phenylalanine
AS Santiago
CHUS
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spelling Health-related quality of life in a european sample of adults with early-treated classical PKUMaissen-Abgottspon, S.Muri, R.Hochuli, M.Reismann, P.Barta, A.G.Alptekin, I.M.Hermida Ameijeiras, AlvaroBurlina, A.P.Burlina, A.B.Cazzorla, C.Carretta, J.Trepp, R.Everts, R.Infant, NewbornPregnancyHumansAdultFemaleQuality of LifeCross-Sectional StudiesPhenylketonuriasHealth StatusNeonatal ScreeningPhenylalanineAS SantiagoCHUSBackground: Phenylketonuria (PKU) is a rare inborn error of metabolism affecting the catabolism of phenylalanine (Phe). To date, findings regarding health-related quality of life (HRQoL) in adults with early-treated classical PKU are discrepant. Moreover, little is known about metabolic, demographic, and cognitive factors associated with HRQoL. Hence, we aimed to investigate HRQoL and its association with demographic, metabolic, and cognitive characteristics in a large European sample of adults with early-treated classical PKU. Results: This cross-sectional study included 124 adults with early-treated classical PKU from Hungary, Italy, Spain, Switzerland, and Turkey. All participants prospectively completed the PKU quality of life questionnaire (PKU-QoL), a questionnaire specifically designed to evaluate the impact of PKU and its treatment on HRQoL in individuals with PKU. In addition, information about Phe levels (concurrent and past year), demographic (age and sex), and cognitive variables (intelligence quotient, IQ) were collected. Most domains revealed little or no impact of PKU on HRQoL and more than three-quarters of the patients rated their health status as good, very good, or excellent. Nevertheless, some areas of concern for patients were identified. Patients were worried about the guilt that they experience if they do not adhere to the dietary protein restriction and they were most concerned about high Phe levels during pregnancy. Further, tiredness was the most affected symptom, and the supplements' taste was considered a main issue for individuals with PKU. The overall impact of PKU on HRQoL was higher in women (U = 1315.5, p =.012) and in adults with a lower IQ (rs = ? 0.448, p =.005). The overall impact of dietary protein restriction was higher in adults with higher concurrent Phe levels (rs = 0.272, p =.007) and higher Phe levels during the past year (rs = 0.280, p =.009). Conclusion: The impact of PKU on most domains assessed in the PKU-QoL was considered to be low. These results likely reflect the successful implementation of the newborn screening resulting in the prevention of severe adverse long-term outcomes. However, a particular clinical focus should be given to patients with lower IQ, higher Phe levels, and women, as these variables were associated with a lower HRQoL.We want to thank all participants that participated in the present study.2023info:eu-repo/semantics/articlehttps://portalcientifico.sergas.gal//documentos/6522c806ec1a10197ffd97b2http://hdl.handle.net/20.500.11940/21551reponame:RUNA. Repositorio da Consellería de Sanidade e Sergasinstname:Servizo Galego de Saúde (SERGAS)Ingléshttp://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:runa.sergas.gal:20.500.11940/215512026-06-12T08:40:47Z
dc.title.none.fl_str_mv Health-related quality of life in a european sample of adults with early-treated classical PKU
title Health-related quality of life in a european sample of adults with early-treated classical PKU
spellingShingle Health-related quality of life in a european sample of adults with early-treated classical PKU
Maissen-Abgottspon, S.
Infant, Newborn
Pregnancy
Humans
Adult
Female
Quality of Life
Cross-Sectional Studies
Phenylketonurias
Health Status
Neonatal Screening
Phenylalanine
AS Santiago
CHUS
title_short Health-related quality of life in a european sample of adults with early-treated classical PKU
title_full Health-related quality of life in a european sample of adults with early-treated classical PKU
title_fullStr Health-related quality of life in a european sample of adults with early-treated classical PKU
title_full_unstemmed Health-related quality of life in a european sample of adults with early-treated classical PKU
title_sort Health-related quality of life in a european sample of adults with early-treated classical PKU
dc.creator.none.fl_str_mv Maissen-Abgottspon, S.
Muri, R.
Hochuli, M.
Reismann, P.
Barta, A.G.
Alptekin, I.M.
Hermida Ameijeiras, Alvaro
Burlina, A.P.
Burlina, A.B.
Cazzorla, C.
Carretta, J.
Trepp, R.
Everts, R.
author Maissen-Abgottspon, S.
author_facet Maissen-Abgottspon, S.
Muri, R.
Hochuli, M.
Reismann, P.
Barta, A.G.
Alptekin, I.M.
Hermida Ameijeiras, Alvaro
Burlina, A.P.
Burlina, A.B.
Cazzorla, C.
Carretta, J.
Trepp, R.
Everts, R.
author_role author
author2 Muri, R.
Hochuli, M.
Reismann, P.
Barta, A.G.
Alptekin, I.M.
Hermida Ameijeiras, Alvaro
Burlina, A.P.
Burlina, A.B.
Cazzorla, C.
Carretta, J.
Trepp, R.
Everts, R.
author2_role author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Infant, Newborn
Pregnancy
Humans
Adult
Female
Quality of Life
Cross-Sectional Studies
Phenylketonurias
Health Status
Neonatal Screening
Phenylalanine
AS Santiago
CHUS
topic Infant, Newborn
Pregnancy
Humans
Adult
Female
Quality of Life
Cross-Sectional Studies
Phenylketonurias
Health Status
Neonatal Screening
Phenylalanine
AS Santiago
CHUS
description Background: Phenylketonuria (PKU) is a rare inborn error of metabolism affecting the catabolism of phenylalanine (Phe). To date, findings regarding health-related quality of life (HRQoL) in adults with early-treated classical PKU are discrepant. Moreover, little is known about metabolic, demographic, and cognitive factors associated with HRQoL. Hence, we aimed to investigate HRQoL and its association with demographic, metabolic, and cognitive characteristics in a large European sample of adults with early-treated classical PKU. Results: This cross-sectional study included 124 adults with early-treated classical PKU from Hungary, Italy, Spain, Switzerland, and Turkey. All participants prospectively completed the PKU quality of life questionnaire (PKU-QoL), a questionnaire specifically designed to evaluate the impact of PKU and its treatment on HRQoL in individuals with PKU. In addition, information about Phe levels (concurrent and past year), demographic (age and sex), and cognitive variables (intelligence quotient, IQ) were collected. Most domains revealed little or no impact of PKU on HRQoL and more than three-quarters of the patients rated their health status as good, very good, or excellent. Nevertheless, some areas of concern for patients were identified. Patients were worried about the guilt that they experience if they do not adhere to the dietary protein restriction and they were most concerned about high Phe levels during pregnancy. Further, tiredness was the most affected symptom, and the supplements' taste was considered a main issue for individuals with PKU. The overall impact of PKU on HRQoL was higher in women (U = 1315.5, p =.012) and in adults with a lower IQ (rs = ? 0.448, p =.005). The overall impact of dietary protein restriction was higher in adults with higher concurrent Phe levels (rs = 0.272, p =.007) and higher Phe levels during the past year (rs = 0.280, p =.009). Conclusion: The impact of PKU on most domains assessed in the PKU-QoL was considered to be low. These results likely reflect the successful implementation of the newborn screening resulting in the prevention of severe adverse long-term outcomes. However, a particular clinical focus should be given to patients with lower IQ, higher Phe levels, and women, as these variables were associated with a lower HRQoL.
publishDate 2023
dc.date.none.fl_str_mv 2023
dc.type.none.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv https://portalcientifico.sergas.gal//documentos/6522c806ec1a10197ffd97b2
http://hdl.handle.net/20.500.11940/21551
url https://portalcientifico.sergas.gal//documentos/6522c806ec1a10197ffd97b2
http://hdl.handle.net/20.500.11940/21551
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.rights.none.fl_str_mv http://creativecommons.org/licenses/by/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv http://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.source.none.fl_str_mv reponame:RUNA. Repositorio da Consellería de Sanidade e Sergas
instname:Servizo Galego de Saúde (SERGAS)
instname_str Servizo Galego de Saúde (SERGAS)
reponame_str RUNA. Repositorio da Consellería de Sanidade e Sergas
collection RUNA. Repositorio da Consellería de Sanidade e Sergas
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15.811543

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