Childhood Apraxia of Speech (CAS) in two patients with 16p11.2 microdeletion syndrome.
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ABSTRACT:
SUBMITTER: Raca G
PROVIDER: S-EPMC3598318 | biostudies-other | 2013 Apr
REPOSITORIES: biostudies-other
Publications
Childhood Apraxia of Speech (CAS) in two patients with 16p11.2 microdeletion syndrome.
Raca Gordana G Baas Becky S BS Kirmani Salman S Laffin Jennifer J JJ Jackson Craig A CA Strand Edythe A EA Jakielski Kathy J KJ Shriberg Lawrence D LD
European journal of human genetics : EJHG 20120822 4
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- ...[more]
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