A highly penetrant form of childhood apraxia of speech due to deletion of 16p11.2
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Author(s)
Fedorenko, Evelina
Morgan, Angela
Murray, Elizabeth
Mei, Cristina
Tager-Flusberg, Helen
Fisher, Simon E
Cardinaux, Anne
Kanwisher, Nancy
Date Issued
July 2015
Journal
European Journal of Human Genetics
Publisher
Nature Publishing Group
Citation
Fedorenko, Evelina et al. “A Highly Penetrant Form of Childhood Apraxia of Speech Due to Deletion of 16p11.2.” European Journal of Human Genetics 24, 2 (July 2015): 302–306 © 2016 Macmillan Publishers Limited
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Author's final manuscript
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 precise and replicable phenotyping, we included tasks that are highly diagnostic for CAS, and we tested children under the age of 18 years, an age group where CAS has been best characterized. Two individuals were largely nonverbal, preventing detailed speech analysis, whereas the remaining nine met the standard accepted diagnostic criteria for CAS. These results link 16p11.2 deletions to a highly penetrant form of CAS. Our findings underline the need for further precise characterization of speech and language profiles in larger groups of affected individuals, which will also enhance our understanding of how genetic pathways contribute to human communication disorders.
MIT Department
Massachusetts Institute of Technology. Department of Brain and Cognitive Sciences
McGovern Institute for Brain Research at MIT
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DOI of Published Version
https://doi.org/10.1038/ejhg.2015.149
