Predicting health‐related quality of life of parents of children with inherited metabolic diseases

Hatzmann, Janneke; Valstar, Marlies J.; Bosch, Annet M.; Wijburg, Frits A.; Heymans, H. S. A.; Grootenhuis, Martha A.

doi:10.1111/j.1651-2227.2009.01269.x

Cited by 50 publications

(49 citation statements)

References 21 publications

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“…Previous research in this area has identified parents’ use of a range of strategies that included proactive coping, other positive coping strategies (e.g., religion, emotional/social support), and less adaptive means of coping (such as substance use) [24]. Similar to our study, others have identified social support, including close family and friend relationships [5, 20, 25, 26] and social media [27], as important to caregiver and family well-being. These informal support systems were commonly identified as important in our study, while the receipt of formal psychological or counselling services was mentioned less frequently by participants.…”

Section: Discussionsupporting

confidence: 78%

Experiences of caregivers of children with inherited metabolic diseases: a qualitative study

Siddiq

Wilson

Graham

et al. 2016

Orphanet J Rare Dis

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Background: We sought to understand the experiences of parents/caregivers of children with inherited metabolic diseases (IMD) in order to inform strategies for supporting patients and their families. We investigated their experiences regarding the management of disease, its impact on child and family life, and interactions with the health care system. Methods: From four Canadian centres, we conducted semi-structured telephone interviews with parents/caregivers of children with an IMD who were born between 2006 and 2015 and who were participating in a larger cohort study. Participants were selected with the aim of achieving a diverse sample with respect to treatment centre, IMD, and age of the child. Interviews emphasized the impacts of the disease and its treatment on the child and family and explicitly queried perceptions of interactions with the health care system. We identified emergent themes from the interview data. Results: We completed interviews with 21 parents/caregivers. The 21 children were aged <1 to 7 years old with IMD that included amino acid disorders, urea cycle disorders, fatty acid oxidation disorders, and organic acid disorders or 'other' IMD. Most parents reported that they and their families had adapted well to their child's diagnosis. Parents used proactive coping strategies to integrate complex disease management protocols into routine family life. An important source of stress was concern about the social challenges faced by their children. Participants reported positive interactions with their most involved health care providers within the metabolic clinic. However, they reported challenges associated with the health care system outside of disease-specific metabolic care, when encountering systems and providers unfamiliar with the child's disease. Conclusions: The successful use of proactive coping strategies among parents of children with IMD in this study suggests the potential value of promoting positive coping and is an important direction for future study. Parents' social concerns for their children were important stressors that warrant consideration by health care providers positioned to support families. Our results with respect to experiences with care highlight the important role of specialized metabolic clinics and point to a need for better coordination of the care that takes place outside the disease-specific management of IMD.

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Section: Discussionsupporting

confidence: 78%

Experiences of caregivers of children with inherited metabolic diseases: a qualitative study

Siddiq

Wilson

Graham

et al. 2016

Orphanet J Rare Dis

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“…However, in conditions like PKU, the caring of a child on a special diet does not appear to affect the quality of life of the parents. However, factors such as loss of carer friendships and lack of emotional support have a large negative impact [20,21]. …”

Section: The Paradox Of Dietary Managementmentioning

confidence: 99%

Adherence Issues in Inherited Metabolic Disorders Treated by Low Natural Protein Diets

et al. 2012

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Common inborn errors of metabolism treated by low natural protein diets [amino acid (AA) disorders, organic acidemias and urea cycle disorders] are responsible for a collection of diverse clinical symptoms, each condition presenting at different ages with variable severity. Precursor-free or essential l-AAs are important in all these conditions. Optimal long-term outcome depends on early diagnosis and good metabolic control, but because of the rarity and severity of conditions, randomized controlled trials are scarce. In all of these disorders, it is commonly described that dietary adherence deteriorates from the age of 10 years onwards, at least in part representing the transition of responsibility from the principal caregivers to the patients. However, patients may have particular difficulties in managing the complexity of their treatment because of the impact of the condition on their neuropsychological profile. There are little data about their ability to self-manage their own diet or the success of any formal educational programs that may have been implemented. Trials conducted in non-phenylketonuria (PKU) patients are rare, and the development of specialist l-AAs for non-PKU AA disorders has usually shadowed that of PKU. There remains much work to be done in refining dietary treatments for all conditions and gaining acceptable dietary adherence and concordance, which is crucial for an optimal outcome.

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“…Furthermore, there is a close relation between the parent’s rating of a child’s HrQoL and the parent’s own HrQoL [32]: Parents experiencing low HrQoL rate their child’s HrQoL low as well. This might be especially relevant in parents of children with IT-IEM, since these diseases demand intensive care and may have a great impact on the lives of caregivers [33]. Another explanation for the lower proxy-ratings may be the ability of parents to anticipate the future problems of the child.…”

Section: Discussionmentioning

confidence: 99%

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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Predicting health‐related quality of life of parents of children with inherited metabolic diseases

Cited by 50 publications

References 21 publications

Experiences of caregivers of children with inherited metabolic diseases: a qualitative study

Experiences of caregivers of children with inherited metabolic diseases: a qualitative study

Adherence Issues in Inherited Metabolic Disorders Treated by Low Natural Protein Diets

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

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