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

Cazzorla, Chiara; Cegolon﻿﻿, Luca; Celato, Andrea; Massa, Pamela; Giordano, Laura; Polo, Giulia; Daniele, Aurora; Salvatore, Francesco; Burlina, Alberto

doi:10.1186/1471-2458-14-1243

Cited by 36 publications

(48 citation statements)

References 47 publications

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“…Elsewhere, the difference in physical and mental domain scores between patients and healthy controls was nonsignificant . Additionally, one study reported significantly lower QoL in male vs female patients, and in patients with lower educational level, despite a normal QoL score in the overall population …”

Section: Quality Of Lifementioning

confidence: 98%

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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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Section: Quality Of Lifementioning

confidence: 98%

“…Several studies used standardized QoL tests, which reported good QoL in patients, comparable with that of healthy controls . However, specific QoL domains may be affected in adults with PKU, despite normal scores overall.…”

Section: Quality Of Lifementioning

confidence: 99%

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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“…15 Lower QOL scores in males with PKU and lower education rates have also been reported. 16 Individuals requiring craniomaxillofacial surgery differ from other chronic medical conditions given they cannot hide their physical appearance and can be subjected to ridicule and objectification, leaving them stigmatised and traumatised. 17 There are reports of lower satisfaction with their facial appearance, self-esteem issues and decreased quality of life in this patient group, 18 as well as depression and anxiety.…”

Section: Introductionmentioning

confidence: 99%

Protocol for psychosocial screening of adolescents and young adults with chronic illness

D'Emden

McDermott

Poulson

et al. 2019

Internal Medicine Journal

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Background: One in five adolescents and young adults (AYA) has a chronic health condition necessitating on-going engagement with healthcare systems. Despite increasing prevalence there remains limited understanding of the burden of illness they experience. Living with a chronic illness can challenge healthy adolescent development, with the unique health and developmental issues affecting AYA requiring different responses from the healthcare system. Aims:To examine and compare the burden of illness in this group across a large range of chronic health conditions. Methods: In a dedicated health service for AYA aged 15-25 years with chronic health conditions, (13-25 years for those with substance use issues) we detail a protocol where demographics, general health, disease-specific indicators and comprehensive psychosocial variables will be collected. The health conditions include chronic gastrointestinal disease, cystic fibrosis, chronic rheumatic disease, phenylketonuria, craniomaxillofacial deformities, renal transplant patients and problematic substance use. Results will be compared to AYA without chronic illness and AYA with diabetes.Results: This protocol outlines a comprehensive screening study for AYA with a large range of chronic health conditions, inclusive of medical, mental health, impairment and quality of life variables. It will inform service planning and provide a foundation upon which allied health service requirements (e.g. psychology) can be based. Whilst currently cross-sectional we anticipate further utility in broadening outcomes to include non-physical illness-related constructs. Conclusions:The commonalities and differences between conditions will be examined to facilitate efficiencies of scale for systems and supports. Further iterations including quantifying access to allied health services will facilitate studying the impact of such interventions on treatment adherence and improving psychosocial functioning, quality of life and disease outcomes.

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“…The diet therapy may affect many aspects of their daily life and quality of life (QoL), as well as of their family members'. In countries other than Japan, some studies have been conducted on the daily life and QoL of patients with IEM and of their parents (Lambert and Boneh 2004;Simon et al 2008;Stockler et al 2012;Cazzoria et al 2014). As one of the factors associated with their QoL, children with IEM in Turkey with bad diet compliance reportedly had lower scores in two aspects of QoL assessment: school labeling and perception of disease (Eminoglu et al 2013).…”

mentioning

confidence: 99%

Difficulties in Daily Life and Associated Factors, and QoL of Children with Inherited Metabolic Disease and Their Parents in Japan: A Literature Review

2016

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To assess the quality of life (QoL) of children in Japan with inborn errors of metabolism (IEM) as well as of their parents, we reviewed 23 previous studies published in Japanese and 1 published in English, focusing on the difficulties they encounter in daily life, the factors associated with these difficulties, and their QoL. We divided the difficulties and associated factors into three developmental stages. At the infant stage, individuals with IEM tend to be at high risk of hypercatabolism. Their parents suffered anxiety and distress because of the child's diet therapy and regarded the parents' support group as an essential presence, particularly given that IEM is a rare disease. At the school-age stage, as their sphere of social relationships expanded, children with IEM became nervous about being compared with healthy children of their own age because of their diet therapy. At the adolescence-to-adulthood stage, the children suffered medically, economically, and socially. Even in the absence of any IEM symptoms, the children's QoL was affected by the demands associated with the metabolic disorder, such as diet and treatment. The psychological health of their caregivers was also poor. To improve the QoL of children with IEM and of their parents, future comprehensive quantitative and qualitative studies of their QoL and of their subjective support needs are required. Additionally, the specific factors related to the QoL of such individuals need to be explored in large population-based statistical studies.

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

Cited by 36 publications

References 47 publications

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

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

Protocol for psychosocial screening of adolescents and young adults with chronic illness

Difficulties in Daily Life and Associated Factors, and QoL of Children with Inherited Metabolic Disease and Their Parents in Japan: A Literature Review

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