Journal article

Deep phenotyping of speech and language skills in individuals with 16p11.2 deletion

Cristina Mei, Evelina Fedorenko, David J Amor, Amber Boys, Caitlyn Hoeflin, Peter Carew, Trent Burgess, Simon E Fisher, Angela T Morgan

EUROPEAN JOURNAL OF HUMAN GENETICS | NATURE PUBLISHING GROUP | Published : 2018

Abstract

Recurrent deletions of a ~600-kb region of 16p11.2 have been associated with a highly penetrant form of childhood apraxia of speech (CAS). Yet prior findings have been based on a small, potentially biased sample using retrospectively collected data. We examine the prevalence of CAS in a larger cohort of individuals with 16p11.2 deletion using a prospectively designed assessment battery. The broader speech and language phenotype associated with carrying this deletion was also examined. 55 participants with 16p11.2 deletion (47 children, 8 adults) underwent deep phenotyping to test for the presence of CAS and other speech and language diagnoses. Standardized tests of oral motor functioning, sp..

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Grants

Awarded by National Health and Medical Research Council (NHMRC)


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


Funding Acknowledgements

We thank the children and their families who participated. This study was supported by the Simons Foundation Variations in Individuals Project and the following grants from the National Health and Medical Research Council (NHMRC): Practitioner Fellowship awarded to A.M. (#1105008) and a Centre of Research Excellence in Speech and Language NeurobioloGy (SLANG) awarded to A.M. and S.E.F. (#1116976). S.E.F. is also supported by the Max Planck Society. E.F. and C.H. were funded by a grant from the Simons Foundation to the Simons Center for the Social Brain at MIT. This work was also supported by the Victorian Government's Operational Infrastructure Support Programme.