Quality of life in noncompliant adults with phenylketonuria after resumption of the diet

Bik-Multanowski, Mirosław; Didycz, Bożena; Mozrzymas, Renata; Nowacka, Maria; Kałużny, Łukasz; Cichy, Wojciech; Schneiberg, Barbara; Amilkiewicz, Jolanta; Bilar, A.; Giżewska, Maria; Lange, Agata; Starostecka, Ewa; Chrobot, Agnieszka; Wojcicka-Bartlomiejczyk, Barbara Iwona; Milanowski, Andrzej

doi:10.1007/s10545-008-0978-7

Cited by 72 publications

(62 citation statements)

References 6 publications

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“…In a quality‐of‐life study among 53 adult patients in Poland who had stopped taking a restricted diet, 17% experienced severe distress, 28% moderate distress and 55% positive well‐being. Returning to a restricted diet increased their quality of life, but the high cost of low‐protein products and poor knowledge regarding a restricted diet contributed to their failure in maintaining the diet (Bik‐Multanowski et al . 2008).…”

Section: Discussionmentioning

confidence: 99%

Costs and outcomes over 36 years of patients with phenylketonuria who do and do not remain on a phenylalanine‐restricted diet

Guest

Bai

Taylor

et al. 2012

J intellect Disabil Res

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The findings suggest that the majority of patients with PKU were under-treated. The NHS cost of patient management should not be an obstacle to encouraging patients to remain on a restricted diet until further information becomes available about the long-term clinical impact of stopping such a diet. Nevertheless, patients require counselling and managed follow up regardless of the choices they make about their diet.

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Section: Discussionmentioning

confidence: 99%

Costs and outcomes over 36 years of patients with phenylketonuria who do and do not remain on a phenylalanine‐restricted diet

Guest

Bai

Taylor

et al. 2012

J intellect Disabil Res

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“…SamplePower’s sample size and power analysis technique utilize Cohen’s calculations for determining effect size and study power [19]. For this investigation, an effect size of 1.22 was calculated from an r 2 value of 0.55 found in a 2008 paper which showed association between diet related plasma Phe improvements and quality of life in PKU patients [13]. Thus, for this study, a minimum sample size of 18 was determined to be sufficient for a power of 0.8 with α = 0.05, and a maximum of 5 covariates in linear models.…”

Section: Methodsmentioning

confidence: 99%

“…Although the consequences are not as severe as during infancy and young childhood, this noncompliance has been shown to lead to neurological sequelae such as increased risk of mood disorders [5], attention deficits [6,7], impairments to executive functioning [8-10], school performance and achievement [11], and social difficulties [12], issues which can certainly impact QOL. Past studies have implicated both high plasma Phe concentrations as well as the strict medical diet in reduced quality of life (QOL) for patients with PKU [13,14]. …”

Section: Introductionmentioning

confidence: 99%

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

Douglas

Ramakrishnan

Kable

et al. 2013

Health Qual Life Outcomes

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BackgroundSapropterin dihydrochloride effectively lowers plasma phenylalanine (Phe) for at least a third of phenylketonuria (PKU) patients, with potential for increased dietary Phe tolerance and decreased medical food requirement.ObjectiveTo investigate long-term quality of life (QOL) in patients with phenylketonuria (PKU) who took sapropterin (BH4, Kuvan®) for up to one year.Methods37 PKU patients, ages 10–49 years, were asked to complete a PKU-specific self-report QOL questionnaire (QOLQ) at baseline, 1, 4, 8, and 12 months. Questions were scored on a 5-point Likert scale under 5 sub-sections measuring Impact, Worries, Satisfaction, Support, and General wellbeing in relation to PKU. Responders with a plasma Phe decrease ≥ 15% after 1 month on sapropterin remained on the drug; Nonresponders ceased sapropterin after the trial month. Responders able to relax medical diet and maintain plasma Phe control were classified as Definitive; Responders unable to relax medical diet were classified as Provisional. All patients were routinely monitored by a registered dietitian. Data was analyzed in SPSS 19.0 using regression techniques.ResultsOf 17 Responders, 11 could maintain adequate Phe control on a less restrictive diet. One year mean Impact sub-score trends improved significantly for all sapropterin response groups, with greatest improvement among Definitive Responders (p < 0.0001). Satisfaction sub-scores also improved for Definitive Responders (p = 0.001). Trends for Total QOL score improved significantly over time for both Definitive (p = 0.001) and Provisional Responders (p = 0.028). Improvements in Definitive Responder scores were associated with increased Phe tolerance (Impact: p < 0.0001, Satisfaction: p = 0.022, Total QOL: p = 0.005) and MF adjustment (Satisfaction: p = 0.014, Total QOL: p = 0.026). Other sub-section scores remained steady, unaffected by sapropterin response or diet modification.ConclusionIncreased Phe tolerance and reduced MF requirement in sapropterin Definitive Responders improves QOL perception across one year, specifically for life impact and satisfaction.

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“…In another study, patients on a restricted diet reported higher scores of general life‐satisfaction than both an off‐diet patient group and a reference sample . Moreover, some data suggest that returning to a strict diet after discontinuation for at least 3 months can significantly improve the subjective well‐being of patients, according to evaluation with the Psychological General Well‐Being Index …”

Section: Quality Of Lifementioning

confidence: 97%

The neurological and psychological phenotype of adult patients with early‐treated phenylketonuria: A systematic review

Burlina

Lachmann

Manara

et al. 2019

J of Inher Metab Disea

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Newborn screening for phenylketonuria (PKU) and early introduction of dietary therapy has been remarkably successful in preventing the severe neurological features of PKU, including mental retardation and epilepsy. However, concerns remain that long‐term outcome is still suboptimal, particularly in adult patients who are no longer on strict phenylalanine‐restricted diets. With our systematic literature review we aimed to describe the neurological phenotype of adults with early‐treated phenylketonuria (ETPKU). The literature search covered the period from 1 January 1990 up to 16 April 2018, using the NLM MEDLINE controlled vocabulary. Of the 643 records initially identified, 83 were included in the analysis. The most commonly reported neurological signs were tremor and hyperreflexia. The overall quality of life (QoL) of ETPKU adults was good or comparable to control populations, and there was no evidence for a significant incidence of psychiatric disease or social difficulties. Neuroimaging revealed that brain abnormalities are present in ETPKU adults, but their clinical significance remains unclear. Generally, intelligence quotient (IQ) appears normal but specific deficits in neuropsychological and social functioning were reported in early‐treated adults compared with healthy individuals. However, accurately defining the prevalence of these deficits is complicated by the lack of standardized neuropsychological tests. Future research should employ standardized neurological, neuropsychological, and neuroimaging protocols, and consider other techniques such as advanced imaging analyses and the recently validated PKU‐specific QoL questionnaire, to precisely define the nature of the impairments within the adult ETPKU population and how these relate to metabolic control throughout life.

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Quality of life in noncompliant adults with phenylketonuria after resumption of the diet

Abstract: Interpersonal differences exist between adult patients on relaxed diet, in some of whom quality of life often remains good, while others can suffer from severe emotional distress. Returning to diet increases quality of life in the majority of patients.

Cited by 72 publications

References 6 publications

Costs and outcomes over 36 years of patients with phenylketonuria who do and do not remain on a phenylalanine‐restricted diet

Costs and outcomes over 36 years of patients with phenylketonuria who do and do not remain on a phenylalanine‐restricted diet

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

The neurological and psychological phenotype of adult patients with early‐treated phenylketonuria: A systematic review

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