Longitudinal quality of life analysis in a phenylketonuria cohort provided sapropterin dihydrochloride

Douglas, Teresa D.; Ramakrishnan, Usha; Kable, Julie A.; Singh, Rani H.

doi:10.1186/1477-7525-11-218

Cited by 33 publications

(33 citation statements)

References 28 publications

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“…This striking difference between our findings and those of the studies from high-income countries could be attributed, in the case of the European multicenter study ( 28 ), to the access to pharmacological treatment with BH4, as increased Phe tolerance and reduced metabolic formula requirement in BH4-responsive patients can improve HRQoL ( 32 ). Nevertheless, this cannot be sustained as the other four studies were conducted before BH4 became available.…”

Section: Discussioncontrasting

confidence: 95%

Quality of life and adherence to treatment in early-treated Brazilian phenylketonuria pediatric patients

Neto

Filho

Monteiro

et al. 2018

Braz J Med Biol Res

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Early dietary treatment of phenylketonuria (PKU), an inborn error of phenylalanine (Phe) metabolism, results in normal cognitive development. Although health-related quality of life (HRQoL) of PKU patients has been reported as unaffected in high-income countries, there are scarce data concerning HRQoL and adherence to treatment of PKU children and adolescents from Brazil. The present study compared HRQoL scores in core dimensions of Brazilian early-treated PKU pediatric patients with those of a reference population, and explored possible relationships between adherence to treatment and HRQoL. Early-treated PKU pediatric patient HRQoL was evaluated by self- and parent-proxy reports of the Pediatric Quality of Life Inventory (PedsQL) core scales. Adherence to treatment was evaluated by median Phe levels and percentage of results within the therapeutic target range in two periods. Means for total and core scales scores of PedsQL self- and parent proxy-reports of PKU patients were significantly lower than their respective means for controls. Adequacy of median Phe concentrations and the mean percentage of values in the target range fell substantially from the first year of life to the last year of this study. There was no significant difference in mean total and core scale scores for self- and parent proxy-reports between patients with adequate and those with inadequate median Phe concentrations. The harmful consequences for intellectual capacity caused by poor adherence to dietary treatment could explain the observed decrease in all HRQoL scales, especially in school functioning. Healthcare system and financial difficulties may also have influenced negatively all HRQoL dimensions.

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Section: Discussioncontrasting

confidence: 95%

Quality of life and adherence to treatment in early-treated Brazilian phenylketonuria pediatric patients

Neto

Filho

Monteiro

et al. 2018

Braz J Med Biol Res

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“…This provides a strong advantage over generic HRQoL measures [ 19 , 25 , 26 ], questionnaires developed for unspecific chronic illness (e.g. Ulm Quality-of-Life Inventory for Parents of chronically ill children) [ 22 ] or even the more recent “PKU-specific” HRQoL questionnaire (PKU-QOLQ) [ 21 ], which had been adapted from a questionnaire used in another condition (juvenile diabetes) and thus had not been designed fully from the beginning for patients with PKU specifically. Because it is truly disease specific, the PKU-QOL questionnaire captures aspects that are important for PKU patients and their parents and impact their daily lives (e.g.…”

Section: Discussionmentioning

confidence: 99%

“…HRQoL studies focusing on patients with PKU and their parents are still scarce [ 18 - 22 , 11 , 23 - 27 ]. Most studies suggest that the HRQoL of patients with PKU is comparable to that of the general population [ 18 , 19 , 21 , 11 , 23 , 24 , 26 ] with the exception of a lower HRQoL demonstrated in a group of Italian children [ 20 ], a low score on the cognitive domain in adults [ 28 ], and of severe to moderate distress in 45% of non-compliant adults patients [ 18 ]. Parents of children with PKU perceive their HRQoL positively overall even though it may be affected by the emotional and social impact of parenting a child with PKU [ 22 , 25 ].…”

Section: Introductionmentioning

confidence: 99%

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

Regnault

Burlina

Cunningham

et al. 2015

Orphanet J Rare Dis

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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.Electronic supplementary materialThe online version of this article (doi:10.1186/s13023-015-0261-6) contains supplementary material, which is available to authorized users.

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“…These unexpected normal scores in most studies may result from the insufficient sensitivity of the presently available generic HRQoL measurement tools in detecting the specific problems of patients with PKU. This is confirmed by the fact that only a study using a partially validated PKU-specific questionnaire demonstrated an improvement in patients’ HRQoL after the start of BH 4 , which allowed relaxation of the diet in some of the patients [ 22 , 23 ]. Of note, in these studies, HRQoL was assessed for about 50 patients (maximum being 69 in Demirdas et al), always from one single country.…”

Section: Introductionmentioning

confidence: 94%

Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries

Bosch

Burlina

Cunningham

et al. 2015

Orphanet J Rare Dis

110

119

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BackgroundThe 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.MethodsA 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).ResultsData 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.ConclusionPatients 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.Electronic supplementary materialThe online version of this article (doi:10.1186/s13023-015-0294-x) contains supplementary material, which is available to authorized users.

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Longitudinal quality of life analysis in a phenylketonuria cohort provided sapropterin dihydrochloride

Cited by 33 publications

References 28 publications

Quality of life and adherence to treatment in early-treated Brazilian phenylketonuria pediatric patients

Quality of life and adherence to treatment in early-treated Brazilian phenylketonuria pediatric patients

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

Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries

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