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Abstract

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.

2025 © 2025 The Author(s). Published by Bentham Science Publisher. The Author(s)
© 2025 The Author(s). Published by Bentham Science Publishers. This is an open access article published under CC BY 4.0 https://creativecommons.org/licenses/by/4.0/legalcode.
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2025-06-23
2025-08-11

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/content/journals/cmc/10.2174/0109298673363460250603053204
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Measuring Health-related Quality of Life in Pediatric Patients with Ultra-rare Diseases: A Multicenter Study
Bentham Science Publishers ; https://doi.org/10.2174/0109298673363460250603053204
/content/journals/cmc/10.2174/0109298673363460250603053204
/content/journals/cmc/10.2174/0109298673363460250603053204
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  • Article Type:     Research Article
Keywords: rare diseases ; Clinical genetics ; ultra-rare diseases ; epilepsy

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