Atypical development of Broca's area in a large family with inherited stuttering

DGY Thompson-Lake; TS Scerri; S Block; SJ Turner; S Reilly; E Kefalianos; AF Bonthrone; I Helbig; M Bahlo; IE Scheffer; MS Hildebrand; FJ Ligeois; AT Morgan

Journal article

Atypical development of Broca's area in a large family with inherited stuttering

DGY Thompson-Lake, TS Scerri, S Block, SJ Turner, S Reilly, E Kefalianos, AF Bonthrone, I Helbig, M Bahlo, IE Scheffer, MS Hildebrand, FJ Ligeois, AT Morgan

Brain | OXFORD UNIV PRESS | Published : 2022

DOI: 10.1093/brain/awab364

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Abstract

Developmental stuttering is a condition of speech dysfluency, characterized by pauses, blocks, prolongations and sound or syllable repetitions. It affects around 1% of the population, with potential detrimental effects on mental health and long-Term employment. Accumulating evidence points to a genetic aetiology, yet gene-brain associations remain poorly understood due to a lack of MRI studies in affected families. Here we report the first neuroimaging study of developmental stuttering in a family with autosomal dominant inheritance of persistent stuttering. We studied a four-generation family, 16 family members were included in genotyping analysis. T1-weighted and diffusion-weighted MRI sca..

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University of Melbourne Researchers

Sheena Reilly Author

Elaina Kefalianos Author

Melanie Bahlo Author

Ingrid Scheffer Author

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Awarded by National Institute of Neurological Disorders and Stroke

Funding Acknowledgements

This study was supported by the National Health and Medical Research Council Centre of Research Excellence (1116976) and a Project Grant (1127144) to A.T.M., M.S.H., F.J.L., A.C., I.E.S. and M.B.; Practitioner Fellowships to A.T.M. (1105008), I.E.S. (1006110); a Senior Research Fellowship to M.B. (1102971), a R.D Wright Career Development Fellowship (1063799) to M.S.H. and a Postgraduate Scholarship to S.J.T. (1017773). A.T.M., S.B. and M.B. were supported by the Victorian Government's Operational Infrastructure Support Program and Australian Government National Health and Medical Research Council Independent Research Institute Infrastructure Support Scheme (NHMRC IRIISS). All research at Great Ormond Street Hospital NHS Foundation Trust and UCL Great Ormond Street Institute of Child Health (F.L. and D.T-L.) is made possible by the NIHR Great Ormond Street Hospital Biomedical Research Centre. The views expressed are those of the authors and not necessarily those of the NHS, the NIHR or the Department of Health. I.H. was supported by The Hartwell Foundation through an Individual Biomedical Research Award and by the National Institute for Neurological Disorders and Stroke (K02 NS112600).