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CDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel cases


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 language skills, with participants ranging from within average through to the severely impaired range. Receptive language was significantly stronger than expressive language ability. Social motivation was a relative strength. In terms of a broader health phenotype, a quarter had one or more of: renal, urogenital, musculoskeletal, and cardiac malformations, vision impairment, ear infections and/or sleep disturbance. All had gross and fine motor impairments (41/41). Other conditions included mild-moderate intellectual disability (16/22) and autism (7/41). No genotype-phenotype correlations were found. Recognition of CAS, a rare speech disorder, is required to ensure appropriately targeted therapy. The high prevalence of speech and language impairment underscores the importance of tailored speech therapy, particularly early access to AAC supports.

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Fig. 1: Lollipop chart of CDK13 missense variants in this cohort.
Fig. 2: The Vineland Adaptive Behaviour Scales domain scores of participants (n = 36) with c.2525 A > G, p.Asn842Ser missense variants (n = 15) and other pathogenic variants (n = 21).
Fig. 3: Social behaviour domains on the social responsiveness scale second edition (T scores) (n = 28).
Fig. 4: Motor speech disorders in assessed participants (n = 22).

Data availability

The datasets generated and analysed during this study are not publicly available because participants have not given permission for data to be made public but may be requested from the corresponding author (A.T.M) who could go back to the participants to request data sharing. Genotypic data were submitted to Decipher (


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Sincere thanks to the children, families and clinicians who took part in this project.


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.

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Authors and Affiliations



LDM: generated data, analysed data, interpreted data, wrote manuscript. OV: generated data, analysed data, interpreted data, revised manuscript. EF: analysed data, interpreted data, revised manuscript. FR: generated data, analysed data, revised manuscript. LF: generated data, analysed data, revised manuscript. FB: generated data, analysed data, revised manuscript. MV: generated data, analysed data, revised manuscript. MJ: generated data, analysed data, revised manuscript. NLD: generated data, analysed data, revised manuscript. DG: generated data, analysed data, revised manuscript. DJA: generated data, analysed data, interpreted data, revised manuscript. ATM: designed and conceptualised study, directed project, generated data, analysed data, interpreted data, wrote manuscript.

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Correspondence to Angela T. Morgan.

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The authors declare no competing interests.

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Ethics approval was obtained from the Royal Children’s Hospital, Melbourne, Human Research Ethics Committee (HREC 37353A). Adult participants and caregivers of child participants provided informed consent to participate in the study and for results of this study to be published.

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Morison, L.D., van Reyk, O., Forbes, E. et al. CDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel cases. Eur J Hum Genet (2023).

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