当院における 22q11.2 欠失症候群の治療について－粘膜下口蓋裂と先天性鼻咽腔閉鎖不全症－

抄録

　　22q11.2 deletion syndrome is a congenital disorder associated with palate abnormalities, congenital heart disease, distinctive facial features, developmental delay, and a variety of other congenital abnormalities. Submucous cleft palate (SMCP) and congenital velopharyngeal insufficiency (CVPI) are more common palate abnormalities than cleft palates. Velopharyngeal closure (VPC) in the 22q11.2 deletion syndrome group (22q group) was compared with that in the non-22q11.2 deletion group (control group), and treatment methods were investigated.
　　Subjects comprised 21 patients in the 22q group (7 with SMPC, 14 with CVPI) and 20 patients in the control group (9 with SMPC, 11 with CVPI) who presented to our hospital with the chief complaint of inarticulate speech and who were available for spoken language evaluation. Cleft palate verbal examination, lateral cephalograms, and fiberscopy were used to examine the nasopharyngeal form and function, and rhinolalia aperta before and after surgery were compared to investigate treatments.
　　Palates were shorter and pharyngeal cavities were deeper in the 22q group than in control group, but there were no clear differences in palate movement. Rhinolalia aperta was slightly more severe before pharyngeal cavity surgery and it took longer after surgery for rhinolalia aperta to improve in the 22q group.
　　A short palate and deep pharynx are considered to impact rhinolalia aperta. Cephalograms did not reveal any notable differences in palate movement, but decreases in motion endurance may have resulted from decreased muscle tone. Pharyngeal flap surgery was primarily conducted for patients with CVPI. SMCP patients were treated by Furlow’s technique or the pushback technique for bundle formation, and if rhinolalia aperta is of moderate or higher severity, pharyngeal flap surgery should also be considered.