PURPOSE: The purpose of this investigation is to describe the communication profile of children with the 22q11.2 deletion syndrome from infancy through school age and to examine the influence of other medical aspects, such as palate anomalies, learning disorders, and cardiac defects of the syndrome to communication. METHODS: Seventy-nine children were examined using standardized tests of speech and language and perceptual measures of resonance and voice. RESULTS: Results show significant delay in emergence of speech and language milestones with delay/disorder in speech-language processes persisting into the school aged years, including those children diagnosed with nonverbal learning disabilities. Persistent articulation and resonance disorders were also present, presumed to be related in part to palatal anomalies. No correlation was found between cardiac status, learning disorders, palate anomalies and communication disorders. CONCLUSION: The need for early identification and management of communication skills is crucial in the care of children with the 22q11.2 deletion.
PURPOSE: The purpose of this investigation is to describe the communication profile of children with the 22q11.2 deletion syndrome from infancy through school age and to examine the influence of other medical aspects, such as palate anomalies, learning disorders, and cardiac defects of the syndrome to communication. METHODS: Seventy-nine children were examined using standardized tests of speech and language and perceptual measures of resonance and voice. RESULTS: Results show significant delay in emergence of speech and language milestones with delay/disorder in speech-language processes persisting into the school aged years, including those children diagnosed with nonverbal learning disabilities. Persistent articulation and resonance disorders were also present, presumed to be related in part to palatal anomalies. No correlation was found between cardiac status, learning disorders, palate anomalies and communication disorders. CONCLUSION: The need for early identification and management of communication skills is crucial in the care of children with the 22q11.2 deletion.
Authors: Cynthia B Solot; Tyler M Moore; Terrence Blaine Crowley; Marsha Gerdes; Edward Moss; Daniel E McGinn; Beverly S Emanuel; Elaine H Zackai; Sean Gallagher; Monica E Calkins; Kosha Ruparel; Ruben C Gur; Donna M McDonald-McGinn; Raquel E Gur Journal: Am J Med Genet B Neuropsychiatr Genet Date: 2020-07-27 Impact factor: 3.568
Authors: Donna M McDonald-McGinn; Kathleen E Sullivan; Bruno Marino; Nicole Philip; Ann Swillen; Jacob A S Vorstman; Elaine H Zackai; Beverly S Emanuel; Joris R Vermeesch; Bernice E Morrow; Peter J Scambler; Anne S Bassett Journal: Nat Rev Dis Primers Date: 2015-11-19 Impact factor: 52.329