腭-心-面综合征的诊断与治疗的临床研究

Diagnosis and Treatment of Velo-cardio-facial Syndrome:a Clinical Analysis

目的:回顾分析110例腭-心-面综合征患者的病例资料,和其中20例患者的治疗结果,为明确临床诊断和确立有效的治疗方法提供依据。方法:收集110例腭-心-面综合征患者(男性57例,女性63例,平均年龄为13.9岁)的临床及影像学资料进行分析,并比较了其中20例患者在接受改良咽后壁组织瓣手术及语音治疗前后的语音清晰度和blowing test结果。结果:110例腭-心-面综合征患者均有过度鼻音,语音清晰度差,临床检查软腭形态正常,但运动功能差,33例患者的IQ值平均为73,20例患者在接受了手术及语音治疗后,语音清晰度均值从治疗前的47%改善到治疗后的98%,吹水泡试验从治疗前的17s提高至治疗后的38s,治疗周期平均为8月。结论:腭-心-面综合征虽然临床表现错综复杂,但所有的患者均有过度鼻音,腭咽部活动度弱等,通过咽成形术及术后的语音治疗可得到令人满意的治疗效果,但治疗周期长,难度较大。

Objective： Velo-cardio-facial syndrome is a congenital disease, its incidence is very low and not known by many doctors. The purpose of this analysis was to study effective diagnosis and treatment of velo-cardio-facial syndrome by review clinical data of 110 cases. Methods： 110 patients （57 male, 63 female, range from 4.3 to 38 years, mean age 13.9 years） with VCFS were available for this study. Their majority were not first to go to see the doctor and were misdiagnosed. They all received the clinical examination and lateral cephalometry. 20 cases received modified pharyngeal flap plastic surgery and speech therapy. Chinese speech intelligibility test and blowing test were measured before and after treatment. Results： The average age in the first diagnosis of VCFS was 13.9 years which was higher than those reported in the literatures. All cases had heavy hypemasality and bad speech intelligibility. The palate was integrated and no cleft, but its mo- bility was feeble. The average data of IQ test in 33 cases was 73. Chinese speech intelligibility of 20 cases who underwent pharyngoplasty and speech therapy was improved from 47% to 98%, and the data of blowing test was increased froml7 to 38 seconds. Therapeutic period lasted from 2 to 25 months, with a mean of eight months. Condusions： VCFS patients could combined with many other disorders, but the main characters were hypemasality and reduced mobility palate. The pharyngeal flap surgery and the speech therapy was an effective therapeutic method for VCFS, but the period would last longer.