Assessment of quality of life in families affected by maple syrup urine disease: a cross sectional study
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Rofaida M. Magdy
,
Karen Reznik Dolins
Abstract
Objectives
Maple syrup urine disease (MSUD) is considered one of the intoxication-type inborn errors of metabolism (IT-IEM). Patients with MSUD are afflicted with a chronic illness, and the disease and its management have both physical and psychological consequences for the patients and their families. The aim of this study was to assess the quality of life (QoL) and its main determining factors for patients with MSUD and their families under follow-up in Sohag University Hospital.
Methods
Parents of 36 patients with MSUD participated in a questionnaire translated into Arabic to assess their QoL. Subsequently, a file review was conducted to identify any key factors that could potentially influence the parents’ QoL.
Results
The results of the study indicated that 27 (75 %) of the MSUD patients exhibited poor QoL, while only 9 (25 %) patients reported good QoL across all studied aspects. Significant differences were observed between the two groups in terms of the disease onset, whether acute or asymptomatic (diagnosed before acute metabolic decompensation) (p=0.001) and the type of screening employed (p=0.007).
Conclusions
There is a paucity of data on the QoL of pediatric patients with IT-IEM, including MSUD. The methodological approaches and assessment instruments utilized in existing studies are inconsistent. Identifying the factors that affect QoL would be beneficial for improving patient care, evaluating outcomes and treatments, and planning effective social and psychological interventions to enhance the patients’ QoL.
Acknowledgments
The authors acknowledge all the children and their parents who so willingly participated in this study. We would like to express our sincere thanks to Dr. Abdelrahem Sadek, Head of the Pediatric Neurology Unit, Department of Pediatrics, Faculty of Medicine, Sohag University, Sohag, Egypt and the staff members of the Genetics Division, Department of Pediatrics, Faculty of Medicine, Sohag University, Sohag, Egypt, for their cooperation and help.
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Research ethics: This study was conducted in accordance with the Declaration of Helsinki (as revised in 2013). Approval was granted by the Ethics Committee of Sohag University (ID: Soh-Med-23-04-23PD).
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Informed consent: Written informed consent was obtained from the patients’ parents or care givers.
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Author contributions: RMM was involved in designing the study, collected and analyzed the data, drafted the initial manuscript, and obtained ethical permission. KRD was involved in supply the Qol questionnaire in English and Arabic and assisted with the manuscript revision. HN involved in data collection and manuscript revision. TMA was involved in designing the study data analysis and statistical analysis. HSE assisted in interpretation of the statistical analysis and drafting the initial manuscript. MAH assisted in study design and revising the initial manuscript. All authors have accepted responsibility for the entire content of this manuscript and approved its submission
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Use of Large Language Models, AI and Machine Learning Tools: None declared.
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Conflict of interest: The authors state no conflict of interest.
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Research funding: None declared.
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Data availability: The raw data can be obtained on request from the corresponding author.
References
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Articles in the same Issue
- Frontmatter
- Review
- Osteogenesis imperfecta: shifting paradigms in pathophysiology and care in children
- Opinion Paper
- CRH receptor antagonist crinecerfont – a promising new treatment option for patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Original Articles
- Age and sex mark clinical differences in the presentation of pediatric type 1 diabetes mellitus
- Geographic information system mapping and predictors of glycemic control in children and youth with type 1 diabetes: a study from Western India
- Body composition assessment measured via bioelectrical impedance analysis in euthyroid children with newly diagnosed Hashimoto’s thyroiditis
- Outcomes of newborns screened for congenital hypothyroidism in Turkey – a single center experience
- High yield of congenital hypothyroidism among infants attending Children Hospital, Nairobi, Kenya. Facility based study in the absence of newborn screening
- Immune checkpoint inhibitors and endocrinopathies in pediatric brain tumor patients
- Assessment of quality of life in families affected by maple syrup urine disease: a cross sectional study
- Case Reports
- Reninoma: an unusual cause of growth failure
- Persistent hypoglycemia in congenital syphilis: hyperinsulinemic hypoglycemia with a focal pancreatic lesion
- Diagnostic challenges in pediatric Cushing’s disease associated with chronic renal failure: a report of three patients
- A novel de novo missense OTC mutation in an Iranian girl: a case report
