Online Social Skills Group Training for Adolescents and Young Adults with 22q11.2 Deletion Syndrome (22q11.2DS)

Somatic, cognitive and psychiatric obstacles contribute to social impairment in 22q11.2DS and prevent adequate responses during interactions. We adapted the autism-specific SOSTA-FRA program for use during online group sessions with geographically-isolated 22q11DS adolescents or adults. The 12 weekly sessions targeted communication, emotional awareness, and reciprocity. Twenty-two participants were evaluated on behaviour, social responsiveness, and cognition pre- and post-intervention. Parents completed a questionnaire to ascertain whether the intervention met their needs. Parents were satisfied with the format and curriculum contents and reported improved emotional awareness, well-being, and reciprocity post-intervention. Pre-post results suggest large effects on social awareness and small to medium effects on social motivation. Results indicate that online social skills training is feasible and effective for individuals with 22q11.2DS.

腭-心-面综合征的语音特点

目的：回顾分析17例腭-心-面综合征患者的异常语音特点,为临床诊治提供参考。方法：收集17例腭-心-面综合征患者（男9例,女8例,年龄5~23岁,平均13.2岁）的专科语音检查结果进行分析。结果：腭-心-面综合征患者主要表现为以过度鼻音为主的语音障碍,多伴有辅音的脱落和弱化。其中辅音的脱落以z、zh、j、g所占比例较大,弱化以s、sh、ch、x、q、k、b所占比例较大。结论：腭-心-面综合征患者由于腭咽部的形态畸形和运动功能减弱,发音过程中不能形成良好的腭咽闭合,导致不同程度的过度鼻音和摩擦辅音的脱落或弱化,从而造成汉语语音清晰度差。