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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