Exploring Kleefstra syndrome cohort phenotype characteristics: Prevalence insights from caregiver-reported outcomes - Archive ouverte HAL
Article Dans Une Revue European Journal of Medical Genetics Année : 2024

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

Tanja Zdolšek Draksler
Arianne Bouman
  • Fonction : Auteur
Alenka Guček
  • Fonction : Auteur
Erik Novak
  • Fonction : Auteur
Florent Colin
  • Fonction : Auteur
Tjitske Kleefstra
  • Fonction : Auteur

Résumé

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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Dates et versions

hal-04753047 , version 1 (25-10-2024)

Identifiants

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Tanja Zdolšek Draksler, Arianne Bouman, Alenka Guček, Erik Novak, Pauline Burger, et al.. Exploring Kleefstra syndrome cohort phenotype characteristics: Prevalence insights from caregiver-reported outcomes. European Journal of Medical Genetics, 2024, 72, pp.104974. ⟨10.1016/j.ejmg.2024.104974⟩. ⟨hal-04753047⟩
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