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Open Access 01-12-2015 | Research

There is variability in the attainment of developmental milestones in the CDKL5 disorder

Authors: Stephanie Fehr, Helen Leonard, Gladys Ho, Simon Williams, Nick de Klerk, David Forbes, John Christodoulou, Jenny Downs

Published in: Journal of Neurodevelopmental Disorders | Issue 1/2015

Abstract

Background

Individuals with the CDKL5 disorder have been described as having severely impaired development. A few individuals have been reported having attained more milestones including walking and running. Our aim was to investigate variation in attainment of developmental milestones and associations with underlying genotype.

Methods

Data was sourced from the International CDKL5 Disorder Database, and individuals were included if they had a pathogenic or probably pathogenic CDKL5 mutation and information on early development. Kaplan-Meier time-to-event analyses investigated the occurrence of developmental milestones. Mutations were grouped by their structural/functional consequence, and Cox regression was used to investigate the relationship between genotype and milestone attainment.

Results

The study included 109 females and 18 males. By 5 years of age, only 75% of the females had attained independent sitting and 25% independent walking whilst a quarter of the males could sit independently by 1 year 3 months. Only one boy could walk independently. No clear relationship between mutation group and milestone attainment was present, although females with a late truncating mutation attained the most milestones.

Conclusion

Attainment of developmental milestones is severely impaired in the CDKL5 disorder, with the majority who did attain skills attaining them at a late age. It appears as though males are more severely impaired than the females. Larger studies are needed to further investigate the role of genotype on clinical variability.

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Title: There is variability in the attainment of developmental milestones in the CDKL5 disorder
Authors: Stephanie Fehr
Helen Leonard
Gladys Ho
Simon Williams
Nick de Klerk
David Forbes
John Christodoulou
Jenny Downs
Publication date: 01-12-2015
Publisher: BioMed Central
Published in: Journal of Neurodevelopmental Disorders / Issue 1/2015
Print ISSN: 1866-1947
Electronic ISSN: 1866-1955
DOI: https://doi.org/10.1186/1866-1955-7-2

Keynote webinar | Spotlight on medication adherence

Springer Medicine

There is variability in the attainment of developmental milestones in the CDKL5 disorder

Abstract

Background

Methods

Results

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Methods

Results

Conclusion

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