Childhood Apraxia of Speech (CAS) in two patients with 16p11.2 microdeletion syndrome

Gordana Raca, Becky S. Baas, Salman Kirmani, Jennifer J. Laffin, Craig A. Jackson, Edythe A. Strand, Kathy J. Jakielski, Lawrence D. Shriberg

Research output: Contribution to journalArticle

33 Scopus citations

Abstract

We report clinical findings that extend the phenotype of the ∼550 kb 16p11.2 microdeletion syndrome to include a rare, severe, and persistent pediatric speech sound disorder termed Childhood Apraxia of Speech (CAS). CAS is the speech disorder identified in a multigenerational pedigree ('KE') in which half of the members have a mutation in FOXP2 that co-segregates with CAS, oromotor apraxia, and low scores on a nonword repetition task. Each of the two patients in the current report completed a 2-h assessment protocol that provided information on their cognitive, language, speech, oral mechanism, motor, and developmental histories and performance. Their histories and standard scores on perceptual and acoustic speech tasks met clinical and research criteria for CAS. Array comparative genomic hybridization analyses identified deletions at chromosome 16p11.2 in each patient. These are the first reported cases with well-characterized CAS in the 16p11.2 syndrome literature and the first report of this microdeletion in CAS genetics research. We discuss implications of findings for issues in both literatures.

Original languageEnglish (US)
Pages (from-to)455-459
Number of pages5
JournalEuropean Journal of Human Genetics
Volume21
Issue number4
DOIs
StatePublished - Apr 2013

Keywords

  • FOXP2
  • aCGH
  • apraxia
  • dyspraxia
  • speech sound disorder

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Raca, G., Baas, B. S., Kirmani, S., Laffin, J. J., Jackson, C. A., Strand, E. A., Jakielski, K. J., & Shriberg, L. D. (2013). Childhood Apraxia of Speech (CAS) in two patients with 16p11.2 microdeletion syndrome. European Journal of Human Genetics, 21(4), 455-459. https://doi.org/10.1038/ejhg.2012.165