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May 30, 2018

BACO International 2018

22q11.2 Deletion syndrome: What the ENT surgeon needs to know about Velopharyngeal insufficiency and its impact on Speech and Language development.

;

Miss Ruth Capper

22q11.2 deletion syndrome

velopharyngeal insufficiency

speech and language development

Abstract

Abstract

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Keywords

22q11.2 deletion syndrome

velopharyngeal insufficiency

speech and language development

Abstract

22q11.2 Deletion syndrome: What the ENT surgeon needs to know about Velopharyngeal insufficiency and its impact on Speech and Language development. Background: 1 in 4000 live births have 22q11.2 Deletion syndrome (22q11.2DS), leading to significant speech and language delay[1,2]. Although multifactorial; it is commonly associated with submucosal cleft palate (SMCP) and velopharyngeal insufficiency (VPI)[1,2]. Objectives: Present SMCP/VPI repair techniques and their speech outcomes. Present hypotheses regarding pathophysiology of speech delay in 22q11.2DS. Methods: Literature search to compare SMCP/VPI repair outcomes and impact on speech. Results: One study showed no significant difference between five surgical techniques in post-operative speech after five years in non-22q11.2DS children[3]. Incidence of 22q11.2DS palatal abnormalities ranges from 46-69%[2]. Palatoplasty alone resulted in normal vocal resonance in 20% with 44% needing further pharyngoplasty[1,4]. 50% achieved normal voice resonance post primary pharyngoplasty[1]. Conclusions: SMCP/VPI repair is valuable in 22q11.2DS. However in non-22q11.2DS, no significant difference between surgical techniques was shown. Surgery varies on experience and anatomical variation[4]. Hypotonia/muscle hypoplasia and subtle laryngeal abnormalities potentially contribute to post-operative speech outcomes[2]. References [1] Spruijt, N.E., Reijman Hinze, J., Hens, G., Poorten, V., Mink van der Molen., A.B., In search of the optimal Surgical treatment for velopharyngeal dysfunction in 22q11.2 Deletion Syndrome: A systematic review., 2012. PLoS, 7(1), 1-11. [2] Solot, C.B., Gerdes, M., Kirschner, R.E., McDonald-McGinn, D.M., Moss, E., Woodin, M., Aleman, D., Zackai, E.H., Wang., P.P., Communication issues in 22q11.2 deletion syndrome: Children at risk., 2001. Genetics in Medicine, 3 (1), 67-71. [3] Lohnmander, A., Ppersson, C., Willadsen,E., et al. Scandcleft randomised trials of primary surgery for unilateral cleft lip and palate: 4. Speech outcomes in 5-year olds – velopharyngeal competency and hypernasality. 2017. Journal of Plastic Surgery and Hand Surgery, 51 (1), 23-37. [4] Sommerlad, B.C., Surgical Management of velopharyngeal incompetence in velocardiofacial syndrome., 2004. Cleft Palate craniofacial journal, 41 (2), 124-135.

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All rights reserved.