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Social motivation a relative strength in DYRK1A syndrome on a background of significant speech and language impairments


Speech and language impairments are commonly reported in DYRK1A syndrome. Yet, speech and language abilities have not been systematically examined in a prospective cohort study. Speech, language, social behaviour, feeding, and non-verbal communication skills were assessed using standardised tools. The broader health and medical phenotype was documented using caregiver questionnaires, interviews and confirmation with medical records. 38 individuals with DYRK1A syndrome (23 male, median age 8 years 3 months, range 1 year 7 months to 25 years) were recruited. Moderate to severe intellectual disability (ID), autism spectrum disorder (ASD), vision, motor and feeding impairments were common, alongside epilepsy in a third of cases. Speech and language was disordered in all participants. Many acquired some degree of verbal communication, yet few (8/38) developed sufficient oral language skills to rely solely on verbal communication. Speech was characterised by severe apraxia and dysarthria in verbal participants, resulting in markedly poor intelligibility. Those with limited verbal language (30/38) used a combination of sign and graphic augmentative and alternative communication (AAC) systems. Language skills were low across expressive, receptive, and written domains. Most had impaired social behaviours (25/29). Restricted and repetitive interests were most impaired, whilst social motivation was a relative strength. Few individuals with DYRK1A syndrome use verbal speech as their sole means of communication, and hence, all individuals need early access to tailored, graphic AAC systems to support their communication. For those who develop verbal speech, targeted therapy for apraxia and dysarthria should be considered to improve intelligibility and, consequently, communication autonomy.

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Fig. 1: Vineland Adaptive Behaviour Scales, Second and Third Edition [16, 17] domains (n = 32).
Fig. 2: Performance on Child Oral and Motor Proficiency Scale.
Fig. 3: Average T scores on the Social Responsiveness Scale, Second Edition [19].
Fig. 4: Dysarthric speech features.

Data availability

The datasets generated during and/or analysed during the current study are not publicly available because families did not consent to this, but are available from the corresponding author on reasonable request and if families provide consent.


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Our sincere thanks to all the children, young adults and their families who took part in this project. A special thanks to the DYRK1A society for their assistance with recruitment and support of the project.


Funding was provided by National Health and Medical Research Council (NHMRC) Practitioner Fellowship #1105008 (AM); NHMRC Investigator Grant #1195955. NHMRC Centre of Research Excellence in Speech and Language Neurobiology #1116976 (ATM, DJA). This work was 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. ROB: generated data, analysed data, interpreted data, wrote manuscript. DJA: analysed data, interpreted data. AB: analysed data, interpreted data. BWMVB: designed and conceptualised study, wrote manuscript. ATM: designed and conceptualised study, directed project, interpreted data, wrote manuscript.

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Correspondence to Angela T. Morgan.

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The authors declare no competing interests.

Ethics approval and consent to participate

Ethics approval was obtained from the Royal Children’s Hospital, Melbourne, Human Research Ethics Committee (HREC 37353A). Participants’ caregivers provided informed electronic consent to participate in the study.

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Morison, L.D., Braden, R.O., Amor, D.J. et al. Social motivation a relative strength in DYRK1A syndrome on a background of significant speech and language impairments. Eur J Hum Genet 30, 800–811 (2022).

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