Journal article
Social motivation a relative strength in DYRK1A syndrome on a background of significant speech and language impairments
LD Morison, RO Braden, DJ Amor, A Brignell, BWM van Bon, AT Morgan
European Journal of Human Genetics | SPRINGERNATURE | Published : 2022
Abstract
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, along..
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Awarded by National Health and Medical Research Council
Funding Acknowledgements
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.