Health Related Quality of Life assessment among early-treated Hungarian adult PKU patients using the PKU-QOL adult questionnaire
Background: The implementation of neonatal screening and the early initiation of lifelong therapy have helped to prevent severe complications and enabled much more favorable outcomes for early-treated phenylketonuria (ETPKU) patients. However, PKU patients tend to develop subtle cognitive and psycho...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2020-06-01
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| Series: | Molecular Genetics and Metabolism Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426920300355 |
| _version_ | 1819064769514045440 |
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| author | András Gellért Barta Csaba Sumánszki Zsófia Turgonyi Erika Kiss Erika Simon Csilla Serfőző Péter Reismann |
| author_facet | András Gellért Barta Csaba Sumánszki Zsófia Turgonyi Erika Kiss Erika Simon Csilla Serfőző Péter Reismann |
| author_sort | András Gellért Barta |
| collection | DOAJ |
| description | Background: The implementation of neonatal screening and the early initiation of lifelong therapy have helped to prevent severe complications and enabled much more favorable outcomes for early-treated phenylketonuria (ETPKU) patients. However, PKU patients tend to develop subtle cognitive and psychosocial abnormalities and the strict dietary therapy can present financial and social burden. Thus, PKU is expected to affect the quality of life (QoL) of these patients. There is insufficient evidence regarding the relationship between metabolic control and Health-Related QoL (HRQoL). We aimed to assess the effect of short- and long-term therapy on QoL among Hungarian adult PKU patients using the standardized PKU-specific PKU-QoL questionnaire.Methods: We conducted a single-centre, cross-sectional, observational study in Hungary. We included adult PKU patients treated with diet and amino acid supplements only. Patients reported HRQoL using the standardized adult PKU-QoL questionnaire and mean blood Phe concentrations were assessed for three different time periods: the previous 10 years, the previous year and concentration at the time of completing the questionnaire. The correlation between patients’ QoL scores and their Phe levels was assessed. The classical PKU group was further divided into “good” and “suboptimal” adherence groups based on individual mean Phe levels in the examined time period. We evaluated differences in QoL among the two subgroups of classical PKU patients. QoL scores between classical and non-classical patients were also compared.Results: Data from 88 adult patients were analysed (66 had classical PKU). No median PKU-QoL score reached major or severe impact/frequent symptoms in any domain. The highest scores (meaning larger burden) were mostly related to emotional impact of PKU and disease management. When performing correlation analysis between Phe levels and QoL scores by all patients we found weak to fair positive correlation in several domains either short or long term. Patients with classical PKU reported greater financial impact of PKU than patients with less severe PKU. Classical PKU patients with good therapy adherence tended to report better HRQoL scores than patients with suboptimal adherence.Conclusion: We conclude that patients showed good HRQoL using the PKU-specific questionnaire. Our study demonstrates that suboptimal metabolic control is negatively associated with patients' HRQoL. |
| first_indexed | 2024-12-21T15:35:50Z |
| format | Article |
| id | doaj.art-e15dbaa1e7694bf88bf05855e3dfae07 |
| institution | Directory Open Access Journal |
| issn | 2214-4269 |
| language | English |
| last_indexed | 2024-12-21T15:35:50Z |
| publishDate | 2020-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Molecular Genetics and Metabolism Reports |
| spelling | doaj.art-e15dbaa1e7694bf88bf05855e3dfae072022-12-21T18:58:38ZengElsevierMolecular Genetics and Metabolism Reports2214-42692020-06-0123Health Related Quality of Life assessment among early-treated Hungarian adult PKU patients using the PKU-QOL adult questionnaireAndrás Gellért Barta0Csaba Sumánszki1Zsófia Turgonyi2Erika Kiss3Erika Simon4Csilla Serfőző5Péter Reismann62nd Department of Internal Medicine, Semmelweis University,Szentkirályi street 46, Budapest 1088, Hungary2nd Department of Internal Medicine, Semmelweis University,Szentkirályi street 46, Budapest 1088, HungaryFaculty of Medicine, Semmelweis University, Üllői út 26, Budapest 1085, Hungary1st Department of Pediatrics, Semmelweis University, Bokay J. street 53-54, Budapest 1083, Hungary1st Department of Pediatrics, Semmelweis University, Bokay J. street 53-54, Budapest 1083, HungaryDepartment of Ophthalmology, Semmelweis University, Mária street 39, Budapest 1085, Hungary2nd Department of Internal Medicine, Semmelweis University,Szentkirályi street 46, Budapest 1088, Hungary; Corresponding author.Background: The implementation of neonatal screening and the early initiation of lifelong therapy have helped to prevent severe complications and enabled much more favorable outcomes for early-treated phenylketonuria (ETPKU) patients. However, PKU patients tend to develop subtle cognitive and psychosocial abnormalities and the strict dietary therapy can present financial and social burden. Thus, PKU is expected to affect the quality of life (QoL) of these patients. There is insufficient evidence regarding the relationship between metabolic control and Health-Related QoL (HRQoL). We aimed to assess the effect of short- and long-term therapy on QoL among Hungarian adult PKU patients using the standardized PKU-specific PKU-QoL questionnaire.Methods: We conducted a single-centre, cross-sectional, observational study in Hungary. We included adult PKU patients treated with diet and amino acid supplements only. Patients reported HRQoL using the standardized adult PKU-QoL questionnaire and mean blood Phe concentrations were assessed for three different time periods: the previous 10 years, the previous year and concentration at the time of completing the questionnaire. The correlation between patients’ QoL scores and their Phe levels was assessed. The classical PKU group was further divided into “good” and “suboptimal” adherence groups based on individual mean Phe levels in the examined time period. We evaluated differences in QoL among the two subgroups of classical PKU patients. QoL scores between classical and non-classical patients were also compared.Results: Data from 88 adult patients were analysed (66 had classical PKU). No median PKU-QoL score reached major or severe impact/frequent symptoms in any domain. The highest scores (meaning larger burden) were mostly related to emotional impact of PKU and disease management. When performing correlation analysis between Phe levels and QoL scores by all patients we found weak to fair positive correlation in several domains either short or long term. Patients with classical PKU reported greater financial impact of PKU than patients with less severe PKU. Classical PKU patients with good therapy adherence tended to report better HRQoL scores than patients with suboptimal adherence.Conclusion: We conclude that patients showed good HRQoL using the PKU-specific questionnaire. Our study demonstrates that suboptimal metabolic control is negatively associated with patients' HRQoL.http://www.sciencedirect.com/science/article/pii/S2214426920300355PKUPhenylketonuriaHRQoLHealth related quality of lifeAdultEarly treated |
| spellingShingle | András Gellért Barta Csaba Sumánszki Zsófia Turgonyi Erika Kiss Erika Simon Csilla Serfőző Péter Reismann Health Related Quality of Life assessment among early-treated Hungarian adult PKU patients using the PKU-QOL adult questionnaire Molecular Genetics and Metabolism Reports PKU Phenylketonuria HRQoL Health related quality of life Adult Early treated |
| title | Health Related Quality of Life assessment among early-treated Hungarian adult PKU patients using the PKU-QOL adult questionnaire |
| title_full | Health Related Quality of Life assessment among early-treated Hungarian adult PKU patients using the PKU-QOL adult questionnaire |
| title_fullStr | Health Related Quality of Life assessment among early-treated Hungarian adult PKU patients using the PKU-QOL adult questionnaire |
| title_full_unstemmed | Health Related Quality of Life assessment among early-treated Hungarian adult PKU patients using the PKU-QOL adult questionnaire |
| title_short | Health Related Quality of Life assessment among early-treated Hungarian adult PKU patients using the PKU-QOL adult questionnaire |
| title_sort | health related quality of life assessment among early treated hungarian adult pku patients using the pku qol adult questionnaire |
| topic | PKU Phenylketonuria HRQoL Health related quality of life Adult Early treated |
| url | http://www.sciencedirect.com/science/article/pii/S2214426920300355 |
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