Quality of life in children treated with restrictive diet for inherited metabolic disease

Eminoğlu, Tuba; Soysal, Şebnem; Tümer, Leyla; Okur, İlyas; Hasanoğlu, Alev

doi:10.1111/ped.12089

Cited by 21 publications

(31 citation statements)

References 18 publications

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“…From six articles, only subgroup data were extracted. In four studies, we selected IT-IEM patients from the original samples, which integrated patients with IT-IEM and patients with other diseases [19,21–23]. One study reported on IT-IEM patients before and after transplantation.…”

Section: Resultsmentioning

confidence: 99%

“…higher compared to Morbus Fabry and pharmacologically treated patients in most domains (no sign. group difference for social and environmental domains)Eminoglu et al, 2013 (Turkey) [23]MA, PA, MSUD (group includes n = 3 patients with a disease not being an IT-IEM) 14 Reviewed sample: separately reported subgroup, mainly IT-IEM, 3 other IEM Orig. sample: IT-IEM mixed with other IEM (N = 68)4.7 (n.a., SD = 4.3)Population norms, other IEM-groups: CMD and AMD• Questionnaire constructed by authors: QoL Scale for Metabolic Diseases (proxy-parent) • HrQoL (QoL Scale for Metabolic Diseases): Sign.…”

Section: Resultsmentioning

confidence: 99%

“…use of convenience samples) in order to avoid selection or non-response bias [22–29]. Two studies involved a non-validated measuring tool [19,23]. Furthermore, only two studies considered multiple informants in terms of self- and proxy-ratings [21,28].…”

Section: Resultsmentioning

confidence: 99%

“…Psychosocial and social domains were lower in IT-IEM patients than in the cancer population. In another article, the parent-rated HrQoL of IT-IEM patients was compared with the parent-rated HrQoL of patients with other metabolic diseases (aminoacid metabolic disorders and carbohydrate metabolic disorders) [23]. IT-IEM patients scored lower in the domains of school functioning , health perception (compared with both diseases) and physical functioning (only compared with aminoacid metabolic disorders).…”

Section: Resultsmentioning

confidence: 99%

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Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism - a systematic review

Zeltner

Huemer

Baumgartner

et al. 2014

Orphanet J Rare Dis

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BackgroundIn recent decades, considerable progress in diagnosis and treatment of patients with intoxication-type inborn errors of metabolism (IT-IEM) such as urea cycle disorders (UCD), organic acidurias (OA), maple syrup urine disease (MSUD), or tyrosinemia type 1 (TYR 1) has resulted in a growing group of long-term survivors. However, IT-IEM still require intense patient and caregiver effort in terms of strict dietetic and pharmacological treatment, and the threat of metabolic crises is always present. Furthermore, crises can affect the central nervous system (CNS), leading to cognitive, behavioural and psychiatric sequelae. Consequently, the well-being of the patients warrants consideration from both a medical and a psychosocial viewpoint by assessing health-related quality of life (HrQoL), psychological adjustment, and adaptive functioning. To date, an overview of findings on these topics for IT-IEM is lacking. We therefore aimed to systematically review the research on HrQoL, psychological adjustment, and adaptive functioning in patients with IT-IEM.MethodsRelevant databases were searched with predefined keywords. Study selection was conducted in two steps based on predefined criteria. Two independent reviewers completed the selection and data extraction.ResultsEleven articles met the inclusion criteria. Studies were of varying methodological quality and used different assessment measures. Findings on HrQoL were inconsistent, with some showing lower and others showing higher or equal HrQoL for IT-IEM patients compared to norms. Findings on psychological adjustment and adaptive functioning were more consistent, showing mostly either no difference or worse adjustment of IT-IEM patients compared to norms. Single medical risk factors for HrQoL, psychological adjustment, or adaptive functioning have been addressed, while psychosocial risk factors have not been addressed.ConclusionData on HrQoL, psychological adjustment, and adaptive functioning for IT-IEM are sparse. Studies are inconsistent in their methodological approaches, assessment instruments and norm populations. A disease-specific standard assessment procedure for HrQoL is not available. Psychosocial risk factors for HrQoL, psychological adjustment, or adaptive functioning have not been investigated. Considering psychosocial variables and their corresponding risk factors for IT-IEM would allow evaluation of outcomes and treatments as well as the planning of effective social and psychological interventions to enhance the patients’ HrQoL.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

See 2 more Smart Citations

Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism - a systematic review

Zeltner

Huemer

Baumgartner

et al. 2014

Orphanet J Rare Dis

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“…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). However, only a few studies in Japan have been conducted and these focused mainly on the patients' and on their mothers' QoL (Kubo et al 2008;Okano 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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Measuring what matters: Why and how to include patient reported outcomes in clinical care and research on inborn errors of metabolism

Huemer

Bösch

2023

J of Inher Metab Disea

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Patient reported outcomes (PROs) are generally defined as ‘any report of the status of a patient's health condition that comes directly from the patient, without interpretation of the patient's response by a clinician or anyone else’. A broader definition of PRO also includes ‘any information on the outcomes of health care obtained directly from patients without modification by clinicians or other health care professionals’. Following this approach, PROs encompass subjective perceptions of patients on how they function or feel not only in relation to a health condition but also to its treatment as well as concepts such as health‐related quality of life (HrQoL), information on the functional status of a patient, signs and symptoms and symptom burden. PRO measurement instruments (PROMs) are mostly questionnaires and inform about what patients can do and how they feel. PROs and PROMs have not yet found unconditional acceptance and wide use in the field of inborn errors of metabolism. This review summarises the importance and usefulness of PROs in research, drug legislation and clinical care and informs about quality standards, development, and potential methodological shortfalls of PROMs. Inclusion of PROs measured with high‐quality, well‐selected PROMs into clinical care, drug legislation, and research helps to identify unmet needs, improve quality of care, and define outcomes that are meaningful to patients. The field of IEM should open to new methodological approaches such as the definition of core sets of variables including PROs to be systematically assessed in specific metabolic conditions and new collaborations with PRO experts, such as psychologists to facilitate the systematic collection of meaningful data.

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Quality of life in children treated with restrictive diet for inherited metabolic disease

Cited by 21 publications

References 18 publications

Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism - a systematic review

Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism - a systematic review

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

Measuring what matters: Why and how to include patient reported outcomes in clinical care and research on inborn errors of metabolism

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