Exploring Kleefstra syndrome cohort phenotype characteristics: Prevalence insights from caregiver-reported outcomes

IF 1.6 4区医学 Q3 GENETICS & HEREDITY

European journal of medical genetics Pub Date : 2024-09-17 DOI:10.1016/j.ejmg.2024.104974

Tanja Zdolšek Draksler , Arianne Bouman , Alenka Guček , Erik Novak , Pauline Burger , Florent Colin , Tjitske Kleefstra

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引用次数: 0

Abstract

Kleefstra syndrome (KLEFS1) is a rare genetic neurodevelopmental disorder affecting multiple body systems. It continues to be under-researched, and its prevalence remains unknown. This paper builds on the international KLEFS1 cohort of 172 individuals based on the caregiver-reported outcomes collected within the online data collection platform GenIDA and reports the occurrence, frequency and severity of symptoms in KLEFS1. The study clearly shows the importance of caregiver-reported outcomes collections in the rare disease domain. Moreover, the study emphasizes the need for more specific and enhanced data collection methods, suggesting recommendations to optimize caregiver-reported registries and foster an even more profound understanding of rare diseases.

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探索克莱夫斯特拉综合征队列表型特征：从护理人员报告的结果中了解患病率

克莱夫斯特拉综合征（KLEFS1）是一种罕见的遗传性神经发育障碍，影响身体多个系统。目前对该病的研究仍然不足，其发病率也仍然未知。本文基于在线数据收集平台 GenIDA 收集的护理人员报告结果，建立了由 172 人组成的 KLEFS1 国际队列，并报告了 KLEFS1 症状的发生、频率和严重程度。该研究清楚地表明了在罕见病领域收集护理人员报告结果的重要性。此外，该研究还强调了采用更具体、更先进的数据收集方法的必要性，并提出了优化护理人员报告登记的建议，以促进对罕见病更深入的了解。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

European journal of medical genetics 医学-遗传学

CiteScore

4.10

自引率

0.00%

发文量

193

审稿时长

66 days

期刊介绍： The European Journal of Medical Genetics (EJMG) is a peer-reviewed journal that publishes articles in English on various aspects of human and medical genetics and of the genetics of experimental models. Original clinical and experimental research articles, short clinical reports, review articles and letters to the editor are welcome on topics such as : • Dysmorphology and syndrome delineation • Molecular genetics and molecular cytogenetics of inherited disorders • Clinical applications of genomics and nextgen sequencing technologies • Syndromal cancer genetics • Behavioral genetics • Community genetics • Fetal pathology and prenatal diagnosis • Genetic counseling.