ArticleOrphanet journal of rare diseases2015
Development and psychometric validation of measures to assess the impact of phenylketonuria and its dietary treatment on patients' and parents' quality of life: the phenylketonuria - quality of life (PKU-QOL) questionnaires.
Article in Orphanet journal of rare diseases, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02677870 (The Effectiveness of High-Dose Synthetic BH4), which is not on this map. Cited by 44 papers, 6 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
The Effectiveness of High-Dose Synthetic BH4 (Saproterin Dihydrochloride or "Kuvan") in Amish PKU Patients
Who cites it
44 citing papers in PubMed, 6 syntheses or guidelines pooled it, 72 citations in OpenAlex.
- Self-reported perspective in rare genetic diseases: a systematic review of patient-reported outcome measures classified using the international classification of functioning, disability and health framework.Journal of patient-reported outcomes · 2026Pooled it
- Invisible but central: family caregiving as the hidden infrastructure of pediatric PKU-an integrative review.Systematic reviews · 2026Pooled it
- Dietary Liberalization in Tetrahydrobiopterin-Treated PKU Patients: Does It Improve Outcomes?Nutrients · 2022Pooled it
- Italian national consensus statement on management and pharmacological treatment of phenylketonuria.Orphanet journal of rare diseases · 2021Pooled it
- Systematic Review of N-of-1 Studies in Rare Genetic Neurodevelopmental Disorders: The Power of 1.Neurology · 2021Pooled it
- 'Mapping' Health State Utility Values from Non-preference-Based Measures: A Systematic Literature Review in Rare Diseases.PharmacoEconomics · 2020Pooled it
- The impacts of caring for children with inherited metabolic diseases for families: a cross-sectional study.Orphanet journal of rare diseases · 2026Article
- Quality of life after diet liberalization in individuals with phenylketonuria treated with Pegvaliase.Molecular genetics and metabolism reports · 2026Article
- Observational
- Navigating adulthood with PKU: metabolic outcomes, quality of life, and mental health 4.5 years post-transition.Orphanet journal of rare diseases · 2026Article
- Health-related quality of life and its influencing factors in Chinese patients with phenylketonuria.Frontiers in pediatrics · 2026Article
- Cognition and wellbeing in middle-aged early treated people with phenylketonuria: Preliminary results and methodological lessons.Molecular genetics and metabolism reports · 2024Article
- The PompeQoL questionnaire: Development and validation of a new measure for children and adolescents with Pompe disease.Journal of inherited metabolic disease · 2024Article
- What is known about patients' quality of life with Phenylketonuria and their caregivers? A scoping review.Orphanet journal of rare diseases · 2024Article
- Life story of Iranian parents of a child with phenylketonuria: a qualitative study.Journal of community genetics · 2023Article
- Protein substitutions as new-generation pharmanutrition approach to managing phenylketonuria.Clinical and experimental pediatrics · 2023Article
- Neuropsychological and quality of life outcomes in PKU patients: expert recommendations of assessment tools in Brazil.Arquivos de neuro-psiquiatria · 2023Review
- Cognitive Functioning in Adults with Phenylketonuria in a Cohort of Spanish Patients.Behavioural neurology · 2023Article
- Expert opinion of an Italian working group on the assessment of cognitive, psychological, and neurological outcomes in pediatric, adolescent, and adult patients with phenylketonuria.Orphanet journal of rare diseases · 2022Article
- Quality of life aspects of a low protein diet using GMP in patients with phenylketonuria.The Journal of international medical research · 2022Observational
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 6 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.