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

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

doi:10.1016/j.ejmg.2024.104974

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

Eur J Med Genet. 2024 Sep 17:72:104974. doi: 10.1016/j.ejmg.2024.104974. Online ahead of print.

Authors

Tanja Zdolšek Draksler¹, Arianne Bouman², Alenka Guček³, Erik Novak³, Pauline Burger⁴, Florent Colin⁵, Tjitske Kleefstra⁶

Affiliations

¹ International Research Centre on Artificial Intelligence (IRCAI) under the auspices of UNESCO, Jožef Stefan Institute, Ljubljana, Slovenia; IDefine Europe, Slovenia. Electronic address: tanja.zdolsek@ijs.si.
² Department of Human Genetics, Radboud university medical center, Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, the Netherlands.
³ Department for artificial Intelligence, Jožef Stefan Institute, Ljubljana, Slovenia.
⁴ Institute of Genetics and Molecular and Cellular Biology (IGBMC), Université de Strasbourg, Illkirch, France.
⁵ Institute of Genetics and Molecular and Cellular Biology (IGBMC), Université de Strasbourg, Illkirch, France; Tumor Biomechanics Lab, University of Strasbourg, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Strasbourg, France.
⁶ Department of Human Genetics, Radboud university medical center, Nijmegen, the Netherlands; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, the Netherlands.

PMID: 39299514
DOI: 10.1016/j.ejmg.2024.104974

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.

Keywords: Caregiver reported outcomes; Cohort study; Data science; Kleefstra syndrome; Patient reported outcomes; Rare disease; Registries.