Journal article

Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation

Michael S Hildebrand, Victoria E Jackson, Thomas S Scerri, Olivia Van Reyk, Matthew Coleman, Ruth O Braden, Samantha Turner, Kristin A Rigbye, Amber Boys, Sarah Barton, Richard Webster, Michael Fahey, Kerryn Saunders, Bronwyn Parry-Fielder, Georgia Paxton, Michael Hayman, David Coman, Himanshu Goel, Anne Baxter, Alan Ma Show all

Neurology | LIPPINCOTT WILLIAMS & WILKINS | Published : 2020

Abstract

OBJECTIVE: Determining the genetic basis of speech disorders provides insight into the neurobiology of human communication. Despite intensive investigation over the past 2 decades, the etiology of most speech disorders in children remains unexplained. To test the hypothesis that speech disorders have a genetic etiology, we performed genetic analysis of children with severe speech disorder, specifically childhood apraxia of speech (CAS). METHODS: Precise phenotyping together with research genome or exome analysis were performed on children referred with a primary diagnosis of CAS. Gene coexpression and gene set enrichment analyses were conducted on high-confidence gene candidates. RESULTS: Th..

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Grants

Awarded by National Health and Medical Research Council (NHMRC) Centre of Research Excellence Grant


Awarded by Australian Research Council (ARC)


Awarded by NHMRC


Funding Acknowledgements

M.S.H., F.J.L., S.E.F., A.C., S.R., D.J.A., I.E.S., M.B., and A.T.M. are funded by a National Health and Medical Research Council (NHMRC) Centre of Research Excellence Grant (1116976). M.S.H., F.J.L., A.C., I.E.S., M.B., and A.T.M. are supported by an Australian Research Council (ARC) Discovery Project (DP120100285). M.S.H., F.J.L., S.E.F., S.R., D.J.A., and A.T.M. are funded by an NHMRC Project Grant (1127144). M.S.H., A.T.M., I.E.S., and M.B. are supported by the March of Dimes Grant Scheme. M.S.H. is funded by an NHMRC Career Development Fellowship (ID: 1063799). S.E.F. is funded by the Max Planck Society. I.E.S. is funded by an NHMRC Development Grant (1153614) and a Practitioner Fellowship (1006110). M.B. is funded by an NHMRC Senior Research Fellowship (ID: 1102971). A.T.M. is funded by an NHMRC Development Grant (1153614) and a Practitioner Fellowship (1105008).