Journal article
CDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel cases
Lottie DD Morison, Olivia Van Reyk, Elana Forbes, Flavien Rouxel, Laurence Faivre, Fiona Bruinsma, Marie Vincent, Marie-Line Jacquemont, Natalie LL Dykzeul, David Genevieve, David JJ Amor, Angela TT Morgan
European Journal of Human Genetics | Springer Nature [academic journals on nature.com] | Published : 2023
Abstract
Speech and language impairments are central features of CDK13-related disorder. While pathogenic CDK13 variants have been associated with childhood apraxia of speech (CAS), a systematic characterisation of communication has not been conducted. Here we examined speech, language, non-verbal communication skills, social behaviour and health and development in 41 individuals with CDK13-related disorder from 10 countries (male = 22, median-age 7 years 1 month, range 1-25 years; 33 novel). Most participants used augmentative and alternative communication (AAC) in early childhood (24/41). CAS was common (14/22). Performance varied widely across intellectual ability, social behaviour and expressive ..
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Awarded by NHMRC
Awarded by Victorian Government's Operational Infrastructure Support Program
Funding Acknowledgements
This work was supported by a National Health and Medical Research Council (NHMRC) Centre of Research Excellence in Speech and Language Neurobiology (CRE-SLANG) #1116976 awarded to A.T.M.; NHMRC Practitioner Fellowship #1105008 awarded to A.T.M., and an NHMRC Investigator grant #1195955 awarded to A.T.M. This work is also supported by the Victorian Government's Operational Infrastructure Support Program.