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Measuring Health-related Quality of Life in Pediatric Patients with Ultra-rare Diseases: A Multicenter Study
Osama Y Muthaffar1, Mahmoud A Gaddoury2, Mohammed A Alsubaie3
1Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.
Insights
Ultra-rare diseases (URDs) with epilepsy significantly impact patient quality of life (QoL). This study highlights the need for evidence-based data to address these challenges in affected communities.
Area of Science:
- Genetics
- Pediatrics
- Neurology
Background:
- Ultra-rare diseases (URDs) affect fewer than 1 in 50,000 individuals.
- URDs are more prevalent in communities with higher consanguinity rates.
- Evidence-based data is crucial for managing URDs.
Purpose of the Study:
- To investigate the impact of ultra-rare diseases (URDs) complicated by epilepsy on the quality of life (QoL) in pediatric patients.
- To analyze clinical, demographic, and QoL data in a cohort of pediatric patients with URDs.
Main Methods:
- Multi-center study utilizing next-generation sequencing to identify 30 pediatric patients with URDs.
- Collected demographic, clinical, laboratory, and radiological data.
- Employed multinomial regression and the Quality of Life of Childhood Epilepsy (QOLCE)-55 scale for analysis.
Main Results:
- The study included 19 males (63.33%) and 11 females (36.67%), aged 2-15 years (mean 8.83).
- The majority of patients (64.51%) were diagnosed with sodium channelopathy.
- The average QoL score was 51.43 ± 9.01 (reference range 0-100).
Conclusions:
- Ultra-rare diseases (URDs) associated with epilepsy substantially diminish the quality of life (QoL) for both patients and their families.
- Findings underscore the significant burden of URDs and epilepsy on patient well-being.
Background:
Ultra-rare diseases (URDs) are defined based on point prevalence and are classified as conditions affecting fewer than 1 in 50,000 individuals, and they are more likely to exist among communities with higher consanguinity rates requiring evidence-based data.
Methods:
In this multi-center study, we used next-generation sequencing to identify 30 pediatric patients with URDs. Along with the demographic information about their parents, clinical, laboratory, and radiological data was also obtained. Multinomial regression was carried out to assess statistical differences and determine associations using the Quality of Life of Childhood Epilepsy (QOLCE)-55 scale.
Results:
There were 19 male (63.33%) and 11 (36.67%) female patients. Their current age range was 2-15 years (mean=8.83 years). The majority were diagnosed with sodium channelopathy (64.51%). The average Quality of Life (QoL) score of all participants was 51.43 ± 9.01 (reference range 0-100) with quartiles Q1=40, Q2=43.5, and Q3=56.
Conclusion:
We propose that URDs complicated by epilepsy can significantly impair the QoL of patients and their families.
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