Journal article

Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia

Angela T Morgan, Leenke van Haaften, Karen van Hulst, Carol Edley, Cristina Mei, Tiong Yang Tan, David Amor, Simon E Fisher, David A Koolen

EUROPEAN JOURNAL OF HUMAN GENETICS | SPRINGERNATURE | Published : 2018

Abstract

Communication disorder is common in Koolen de Vries syndrome (KdVS), yet its specific symptomatology has not been examined, limiting prognostic counselling and application of targeted therapies. Here we examine the communication phenotype associated with KdVS. Twenty-nine participants (12 males, 4 with KANSL1 variants, 25 with 17q21.31 microdeletion), aged 1.0-27.0 years were assessed for oral-motor, speech, language, literacy, and social functioning. Early history included hypotonia and feeding difficulties. Speech and language development was delayed and atypical from onset of first words (2; 5-3; 5 years of age on average). Speech was characterised by apraxia (100%) and dysarthria (93%), ..

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Grants

Awarded by National Health and Medical Research Council (NHMRC) Practitioner Fellowship


Awarded by NHMRC Centre of Research Excellence in Speech and Language NeurobioloGy (CRE-SLANG)


Awarded by NHMRC Project grant


Funding Acknowledgements

Thanks to the families and clinicians who took part in this project. A special thanks to Mark Mitchell for considering feedback. A.M. is supported by a National Health and Medical Research Council (NHMRC) Practitioner Fellowship #1105008. This work is also supported by the NHMRC Centre of Research Excellence in Speech and Language NeurobioloGy (CRE-SLANG) #1116976 and NHMRC Project grant #APP1127144, awarded to A.M., S.F. This work is also supported by the Victorian Government's Operational Infrastructure Support Programme.