Journal article

A highly penetrant form of childhood apraxia of speech due to deletion of 16p11.2

Evelina Fedorenko, Angela Morgan, Elizabeth Murray, Annie Cardinaux, Cristina Mei, Helen Tager-Flusberg, Simon E Fisher, Nancy Kanwisher

EUROPEAN JOURNAL OF HUMAN GENETICS | NATURE PUBLISHING GROUP | Published : 2016

Abstract

Individuals with heterozygous 16p11.2 deletions reportedly suffer from a variety of difficulties with speech and language. Indeed, recent copy-number variant screens of children with childhood apraxia of speech (CAS), a specific and rare motor speech disorder, have identified three unrelated individuals with 16p11.2 deletions. However, the nature and prevalence of speech and language disorders in general, and CAS in particular, is unknown for individuals with 16p11.2 deletions. Here we took a genotype-first approach, conducting detailed and systematic characterization of speech abilities in a group of 11 unrelated children ascertained on the basis of 16p11.2 deletions. To obtain the most pre..

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Grants

Awarded by R00 award from NICHD


Awarded by NIDCD


Awarded by NHMRC


Awarded by EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT


Awarded by EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH &HUMAN DEVELOPMENT


Awarded by NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS


Funding Acknowledgements

We thank the participants and their families for taking part in our study. We are also grateful to the Simons Foundation team (especially Alexandra Bowe, Debra Olchick, Nicole Takahashi, and Jennifer Tjernagel) for help with recruiting and scheduling participants. We thank Heather Mabie and Larry Shriberg for sharing the audio materials for the SRT. We thank Zuzanna Balewski, Cara Borelli, Jenelle Feather, Jeanne Gallee, Kyle Mahowald, Caitlin Malloy, and Terri Scott for help in preparing everything for testing and analyzing the data. We thank Kim Leeds for administrative support. This work was supported by a grant to NK from the Simons Foundation. EF is supported by the R00 award HD-057522 from NICHD. SEF is supported by the Max Planck Society. HTF's contribution to this research is supported by NIDCD (P50 DC 13027). AM is supported by the NHMRC (#607315). Preparation of this paper was also supported by the Victorian's Government's Operational Infrastructure Support Program, Australia.