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Quality of Life (QoL) assessment in a cohort of patients with phenylketonuria.

ABSTRACT: BACKGROUND: Phenylketonuria (PKU) is a chronic inborn error of amino acid metabolism that requires lifelong follow-up and intervention, which may represent strains on Quality of Life (QoL). This observational study evaluated QoL in a cohort of PKU patients, using updated and detailed instruments. METHODS: 22 patients with mild PKU respondent to BH4 and 21 patients with classical PKU treated with diet were recruited in this study. Adult patients completed WHOQOL questionnaire-100 (WHOQOL-100) and pediatric patients the Pediatric QoL inventory (PedsQL(TM)). Psychiatric and mood disorders were also evaluated using TAD or BDI and STAI-Y inventories. A multivariable linear regression model was fitted to investigate the predictors of QoL, including age, sex, treatment type, length of current treatment, educational level and employment status (only for adults) as covariates. Results were presented as regression coefficients with 95% confidence interval. RESULTS: Global QoL scores were within normal range both in patients with mild and classical disease but global QoL scores were significantly higher in patients with mild PKU under BH4 treatment as compared to those affected by classical disease who were under diet regimen. Furthermore, QoL significantly increased in long treated PKU patients. Among adult patients, QoL scores were significantly lower in males, in patients with lower education and in those employed or unemployed as compared to students (baseline). CONCLUSIONS: Both diet and medical treatment based upon BH4 seem to be associated with higher QoL in the long run. However, patients with mild PKU can rely on BH4 to achieve a higher Phe tolerance and a better compliance to therapy due to diet relaxation/avoidance. Some specific categories of patients with a lower QoL should be investigated more in depth, engaging with those at risk of lower treatment compliance. The questionnaires employed in the present study seemed to be able to effectively detect criticalities in QoL assessment and represent an advance from previous inventories employed in the past.

SUBMITTER: Cazzorla C

PROVIDER: S-EPMC4265392 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

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Quality of Life (QoL) assessment in a cohort of patients with phenylketonuria.

Cazzorla Chiara C Cegolon Luca L Burlina Alessandro P AP Celato Andrea A Massa Pamela P Giordano Laura L Polo Giulia G Daniele Aurora A Salvatore Francesco F Burlina Alberto B AB

BMC public health 20141204

<h4>Background</h4>Phenylketonuria (PKU) is a chronic inborn error of amino acid metabolism that requires lifelong follow-up and intervention, which may represent strains on Quality of Life (QoL). This observational study evaluated QoL in a cohort of PKU patients, using updated and detailed instruments.<h4>Methods</h4>22 patients with mild PKU respondent to BH4 and 21 patients with classical PKU treated with diet were recruited in this study. Adult patients completed WHOQOL questionnaire-100 (WH ...[more]

PMID: 25471331

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Project description:BackgroundThe aim of our study was to develop and validate the first set of PKU-specific Health-related Quality of Life (HRQoL) questionnaires that: 1) were developed for patients with PKU and their parents, 2) cover the physical, emotional, and social impacts of PKU and its treatment on patients' lives, 3) are age specific (Child PKU-QOL, Adolescent PKU-QOL, Adult PKU-QOL), 4) enable the evaluation of the HRQoL of children by their parents (Parent PKU-QOL), and 5) have been cross-culturally adapted for use in seven countries (i.e. France, Germany, Italy, The Netherlands, Spain, Turkey and the UK).MethodsThe PKU-QOL questionnaires were developed according to reference methods including patients', parents' and healthcare professionals' interviews; testing in a pilot study (qualitative step in six countries), and linguistic validation of the finalised pilot versions in Turkish. For finalisation and psychometric validation, the pilot versions were included in a multicentre, prospective, non-interventional, observational study conducted in 34 sites in France, Germany, Italy, The Netherlands, Spain, Turkey and the UK. Iterative multi-trait analyses were conducted. Psychometric properties were assessed (concurrent and clinical validity, internal consistency reliability and test-retest reliability).ResultsData from 559 subjects (306 patients, 253 parents) were analysed. After finalisation, the PKU-QOL questionnaires included 40 items (Child PKU-QOL), 58 items (Adolescent PKU-QOL), 65 items (Adult PKU-QOL) and 54 items (Parent PKU-QOL), distributed in four modules: PKU symptoms, PKU in general, administration of Phe-free protein supplements and dietary protein restriction. The measurement properties of the Adolescent, Adult and Parent PKU-QOL questionnaires were overall fairly satisfactory, but weaker for the Child questionnaire.ConclusionsThe four PKU-QOL questionnaires developed for different ages (Child PKU-QOL, Adolescent PKU-QOL, Adult PKU-QOL), and for parents of children with PKU (Parent PKU-QOL) are valid and reliable instruments for assessing the multifaceted impact of PKU on patients of different age groups (children, adolescents and adults) and their parents, and are available for use in seven countries. They are very promising tools to explore how patients' perceptions evolve with age, to increase knowledge of the impact of PKU on patients and parents in different countries, and to help monitor the effect of therapeutic strategies.

Project 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.

Project description:BackgroundAdvanced childhood cancer, a condition with no available cancer-focused treatment options, greatly impacts Quality of Life (QoL). We need appropriate assessment strategies to select adapted treatment targets, improve care and optimize communication. Our first goal was to identify the domains of patients' QoL by combining for the first time the perspectives of patients and parents with previously collected reports in professionals. Our second goal was to develop a simple QoL assessment tool and optimize its format and content for use in the childhood advanced cancer population.MethodsTo identify QoL domains, we conducted qualitative interviews with 7 young patients (4 girls, 3 boys, aged 13 ± 4 yrs) and 9 parents (7 mothers, 2 fathers) from our treatment centre. We used inductive thematic content analysis to code and categorize respondents' viewpoints. The first version of the tool (Advance QoL) was then drafted, and structured feedback was collected through interviews and a survey with 15 experts. We computed content validity indices.ResultsApart from the physical, psychological, and social domains, participants insisted on four original themes: autonomy, pleasure, the pursuit of achievement, and the sense of feeling heard. This was in line with the categories found in a preliminary study involving professionals (PMID: 28137343). Experts evaluated the tool as clear, relevant, acceptable, and usable. They formulated recommendations on instructions, timeframe, and item formulations, which we implemented in the refined version.ConclusionsAdvance QoL is an innovative tool targeting key life domains in childhood advanced cancer. It is focused on preserved abilities and targets of care. The refined version is appropriate for adult respondents within families and professionals. Future studies will develop versions for young ages to collect the experience of patients themselves. This will open on future reliability, validity, sensitivity, and implementation studies.

Project description:The strict and demanding dietary treatment and mild cognitive abnormalities seen in PKU treated from a young age can be expected to affect the health-related quality of life (HRQoL) of patients and their families. Our aim was to describe the HRQoL of patients with PKU from a large international study, using generic HRQoL measures and an innovative PKU-specific HRQoL questionnaire (PKU-QOL). Analyses were exploratory, performed post-hoc on data collected primarily to validate the PKU-QOL.A multicentre, prospective, non-interventional, observational study conducted in France, Germany, Italy, The Netherlands, Spain, Turkey and the UK. Patients diagnosed with PKU aged ?9 years old and treated with a Phe-restricted diet and/or Phe-free amino acid protein supplements and/or pharmacological therapy were included in the study; parents of at least one patient with PKU aged <18 years were also included. HRQoL was assessed by generic measures (Pediatric Quality-of-Life Inventory; Medical Outcome Survey 36 item Short Form; Child Health Questionnaire 28 item Parent Form) and the newly developed PKU-QOL. Mean generic domain scores were interpreted using published reference values from the general population. PKU-QOL domain scores were described overall and in different subgroups of patients defined according to severity of PKU, overall assessment of patient's health status by the investigator and treatment with tetrahydrobiopterin (BH4).Data from 559 subjects were analysed: 306 patients (92 children, 110 adolescents, 104 adults) and 253 parents. Mean domain scores of generic measures in the study were comparable to the general population. The highest PKU-QOL impact scores (indicating greater impact) were for emotional impact of PKU, anxiety about blood Phe levels, guilt regarding poor adherence to dietary restrictions or Phe-free amino acid supplement intake and anxiety regarding blood Phe levels during pregnancy. Patients with mild/moderate PKU and those receiving BH4 reported lower practical and emotional impacts of the diet and Phe-free amino acid supplement intake.Patients with PKU showed good HRQoL in the study, both with the generic and PKU-specific measures. Negative impacts of PKU on a patient's life, including the emotional impact of PKU and its management, was delineated by the PKU-QOLs across all age groups.

Project description:IntroductionAcute myeloid leukemia (AML) can negatively impact quality of life (QOL). Few QOL instruments are specific to and have been validated in AML. This review aims to identify QOL instruments that have been validated in patients with AML and other cancers and summarize their psychometric properties reported in published literature. A literature review search was performed using PubMed and OVID (Biosis, Embase, MEDLINE) databases through June 25, 2020. Search terms included: QOL, health-related QOL, patient-reported outcomes and validity, reliability, validated, tools, instruments, test-retest, and leukemia myeloid acute, leukemia, myeloid, acute, acute myeloid leukemia. Articles were included if they focused on cancer and reported psychometric properties that could be extracted. Abstracts and their references were reviewed for inclusion.ResultsTwelve evaluating ten instruments were included. Functional Assessment of Cancer Therapy Leukemia (FACT-Leu) showed internal consistency (IC) of α = 0.86 to >0.9, correlation with EQ-5D-3L of r > 0.50, correlation with European Organisation for Research and Treatment of Cancer (EORTC) QLQ-Leu of ρ = 0.29-0.63, test-retest reliability of κ = 0.861. FACT-F showed correlations with EORTC QLQ-C30 of r = 0.40-0.83. Hematological Malignancy Patient-Reported Outcome (HM-PRO) showed intraclass correlation coefficient (ICC) of 0.94-0.98. EORTC-8D and EQ-5D-3L showed ICC = 0.595, correlations with each other of ρ = 0.137-0.634 and with EORTC QLQ-C30 of r = 0.651-0.917. EORTC QLQ-C30 showed person separation reliability of 0.47 to 0.90 and patient-observer agreement of 0.85. Life Ingredient Profile (LIP) showed IC of α = 0.29-0.77 and test-retest reliability of κ = 0.42-1.0. QOL-E showed correlation with FACT-general of R = 0.71, internal validity of α = 0.7, and test-retest reliability of standardized Cronbach's α = 0.7-0.92. EORTC QLQ-Leu showed IC of α = 0.6-0.79. The Acute Myeloid Leukemia-Quality of Life (AML-QOL) instrument showed IC of α = 0.72, correlations with EORTC QLQ-30 of magnitudes ρ = 0.59-0.72, and test-retest reliability of ICC = 0.52-0.91.ConclusionAlthough several QOL instruments have been validated, more research is needed to determine the most clinically useful instruments in patients with AML.

Dataset Information

Quality of Life (QoL) assessment in a cohort of patients with phenylketonuria.

Publications

Quality of Life (QoL) assessment in a cohort of patients with phenylketonuria.

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