Journal article
There is variability in the attainment of developmental milestones in the CDKL5 disorder
S Fehr, H Leonard, G Ho, S Williams, N De Klerk, D Forbes, J Christodoulou, J Downs
Journal of Neurodevelopmental Disorders | BMC | Published : 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 ..
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Awarded by National Health and Medical Research Council
Funding Acknowledgements
The authors would like to express their special appreciation to all the families who have participated in the International CDKL5 Disorder Database. We would like to acknowledge the International Foundation for CDKL5 Research for their ongoing support and assistance and Dr. Alison Anderson for her assistance in database design and establishment. This study is supported by Ms. Fehr's Australian Postgraduate Award, University of Western Australia Safety-Net Top-Up Scholarship, Stan and Jean Perron Top-Up Scholarship and Stan and Jean Perron Award for Excellence. Data collection was also supported by an NHMRC Program Grant No. 572742 (Dr Jenny Downs) and NHMRC Senior Research Fellowship No. 572568 (Dr. Helen Leonard).