腭-心-面综合征的诊断与治疗的临床研究

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。     

腭-心-面综合征患者语音治疗方法探讨

目的:探讨腭-心-面综合征异常语音患者有效的语音治疗方法。方法:选取腭-心-面综合征行咽成形术后患者57例(男30例,女27例),年龄4-17岁(平均10.6岁)。在汉语语音教学基础上,用简单易学的行为模式进行诱导,建立正确的发音部位与发音方法。比较治疗前、后的语音清晰度和过度鼻音,采用SPSS16.0软件包分别对数据进行t检验和Wilcoxon符号秩和检验,评价疗效。结果:57例患者经2-8个月的语音治疗,语音清晰度由治疗前的33.75%提高到治疗后的97.86%,差异显著(P<0.01)。治疗前轻度过度鼻音7例,中度33例,重度17例;治疗后异常鼻音消除者38例,轻度异常鼻音17例,中度异常鼻音2例,经秩和检验,两者具有显著差异(P<0.01)。结论:对存在严重语音障碍并伴有学习能力缺陷的腭-心-面综合征患者,在汉语语音教学基础上,应用行为诱导模式,可以恢复正常语音清晰度。     

腭裂咽成形术后患者异常语音的发音特点研究

目的：对腭裂咽成形术后患者的发音特点和发生机制进行探讨。方法：本组病例82例(男46，女36)，年龄4～31岁(平均13.44岁)。采用汉语语音清晰度测试表(包含音节、词、词组、短句)对患者录音，并对其语音清晰度、异常语音、代偿性发音进行分析比较。结果：在82例患者巾，以腭咽闭合不全型为持点的代偿性语音71例：声门塞音60例、咽摩擦音11例；以腭咽闭合良好型为特点的代偿性语音11例：腭化音6例、腭化 侧化音2例、侧化音3例．清晰度：声门塞音46.27％、咽摩擦音57.19％、腭化音67．17％、腭化 侧化音74．67％、侧化音77．50％．异常辅音多见于塞音、擦音、塞擦音，辅音的弱化以送气音p66．67％(8／12)、t78.95％(15／19)、s60％(39／64)、sh60％(39／64)、c66％(43／65)、ch66％(43／65)、x62％(39／63)、q67％(43／64)、k76％(31／41)、b73％(43／59)所占比例较多；辅音的脱落则以不送气音z81％(56／69)、zh81％(56／69)、i80％(56／70)、g84％(48／57)所占比例较多。结论：咽成形术后仍以腭咽闭合不全型为特点的代偿性语音为主，主要表现为辅音的脱落与弱化。产生弱化的辅音多见于送气音，产生脱落的辅音则多见于不送气音．     

口-面-指(趾)综合征Ⅰ型1例报告

报告1例口-面-指(趾)综合征Ⅰ型患者，进行腭、舌和多生趾的矫正手术，术后患者舌运动接近正常，而语音功能不能完全恢复。认为患者的功能恢复取决于智力发育状况，OFDⅠ基因突变在发病中可能起着重要作用。     

行为疗法在腭化构音治疗中的应用

目的:利用行为疗法改善各类腭化构音异常患者的不良发音习惯,提高患者的语音清晰度。方法:收集不同类型腭化构音患者67例,年龄4～22岁(平均12.5岁);其中,腭裂术后腭化构音障碍患者28例,先天性腭咽闭合不全术后腭化构音患者22例,功能性腭化构音异常患者17例,智力均在75%以上,听力≤25dB,语音清晰度75%以下。所有患者均经过系统完善的行为治疗,并由3位资深医师/语音治疗师进行治疗前后语音清晰度判听、量分,并应用行为疗法进行治疗。采用SAS6.0软件包对数据进行配对t检验。结果:腭化构音多累及辅音,经系统性行为治疗后,语音清晰度均较治疗前显著提高,由治疗前语音清晰度均值51.85%提高到94.71%,改善率均值为42.87%(P<0.01)。结论:行为疗法用于各类腭化构音障碍患者,有效提高患者的语音清晰度。     

腭裂患者错误构音的相关因素研究

目的 通过对比研究腭咽闭合完全后构音的变化来探讨构音与腭咽功能和手术年龄的相关性,并同时探讨影响患者手术前后辅音脱落变化的相关因素。方法 选择2011年1-12月符合纳入标准的48例非综合征型腭裂患者,其中男18例,女30 例,平均年龄（13.3±5.8）岁。回顾性分析其相关语音数据,对其术前与术后的构音变化情况进行非参数检验,对构音改变程度与手术年龄等进行相关性分析。以P<0.05为具有统计学意义。结果 经过非参数检验腭咽闭合完全后构音的变化有统计学意义（Z=-3.796,P=0.000）;术后构音恢复正常的百分比与手术年龄负相关（R=-0.487,P=0.000）。辅音脱落的改变程度与手术年龄呈正相关（R=0.589,P=0.000）;与复诊时间呈负相关（R=-0.235,P=0.040）;与性别呈正相关（R=0.404,P=0.047）。结论 腭咽闭合完全后构音明显好转,语音清晰度明显改善;患者达到腭咽闭合完全的年龄越小,术后构音恢复正常的百分比越高。辅音脱落的改变与患者年龄和性别呈正相关,与复诊时间呈负相关。     

华西改良腭咽肌瓣和Hogan咽后壁瓣术后腭咽功能及语音的对比研究

目的:通过对比研究华西改良腭咽肌瓣和Hogan咽后壁瓣2种术式在大龄腭裂患者术后腭咽功能和语音状况的变化,为临床大龄患者最佳术式的选择提供参考。方法:选择2009-01～2011-01行Hogan咽后壁瓣咽成形术(PF组,32例)和华西改良腭咽肌瓣咽成形术(P+SP组,49例)的患者,对其术后的腭咽闭合状况、共鸣、鼻漏气及辅音正确率、鼻呼吸通畅度进行分析对比统计。结果:PF组术后21例(62.50%)腭咽闭合完全;6例(18.75%)术后语音完全清晰。P+SP组术后VPC 30例(61.22%)腭咽闭合完全;13例(25.63%)语音完全清晰。PF组术后20例(62.5%)出现打鼾现象,P+SP组术后32例(65.31%)患者出现打鼾现象。PF和P+SP术式对术后腭咽闭合完全率、高鼻音、鼻漏气、辅音正确率以及呼吸的改变无差别。结论:2种术式都能显著提高患者的腭咽闭合率和语音清晰度。     

130例腭裂修复术后患者的语音特点分析

目的探讨腭裂患者在腭裂修复术后的语音特点,为制定语音训练方案提供参考。方法采用汉语构音测量表对130例腭裂修复术后患者进行语音清晰度评价,分析其语音特点。结果腭裂修复术后腭咽闭合功能不全患者表现为过高鼻音、鼻漏气、口腔压力不足、代偿性构音及语音清晰度差等特点;非腭咽闭合不全患者语音清晰度较好,较多表现为腭化构音及辅音的构音错误。结论腭裂修复术后部分患者仍存在不同程度的语音问题,主要表现为共鸣障碍、声门或咽喉爆破等代偿性发音、腭化构音及辅音的构音错误等。     

面动脉-颏下动脉肌皮瓣修复腭部恶性肿瘤术后组织缺损的临床评价

目的:评价面动脉-颏下动脉肌皮瓣修复口腔腭部恶性肿瘤术后组织缺损的临床效果。方法 :2008-01—2010-09,采用面动脉-颏下动脉供血的岛状肌皮瓣修复腭部恶性肿瘤术后组织缺损共13例,其中男性7例,女性6例,年龄21⁷5岁,平均年龄56岁。病理类型:高分化鳞癌7例,中分化鳞癌2例,黏液表皮样癌3例,腺样囊性癌1例。TNM分期:T1N0M0 4例,T2N0M0 6例,T3N0M0 3例。皮瓣大小为(6 cm×4 cm)75岁,平均年龄56岁。病理类型:高分化鳞癌7例,中分化鳞癌2例,黏液表皮样癌3例,腺样囊性癌1例。TNM分期:T1N0M0 4例,T2N0M0 6例,T3N0M0 3例。皮瓣大小为(6 cm×4 cm)^{(12 cm×5 cm)}。其中8例为腭部洞穿性缺损,5例缺损鼻腔侧黏膜尚完整。结果:13例面动脉-颏下动脉供血的岛状肌皮瓣全部成活,患者腭部、颈部创面均一期愈合,腭部缺损修复形态良好。语音、咀嚼、吞咽功能恢复良好,无张口受限、头部后仰受限及面瘫等继发功能障碍,颌面部无明显畸形。3例腭部洞穿性缺损修复患者术后初期出现鼻塞症状,3个月后症状逐渐缓解。术后随访2(12 cm×5 cm)。其中8例为腭部洞穿性缺损,5例缺损鼻腔侧黏膜尚完整。结果:13例面动脉-颏下动脉供血的岛状肌皮瓣全部成活,患者腭部、颈部创面均一期愈合,腭部缺损修复形态良好。语音、咀嚼、吞咽功能恢复良好,无张口受限、头部后仰受限及面瘫等继发功能障碍,颌面部无明显畸形。3例腭部洞穿性缺损修复患者术后初期出现鼻塞症状,3个月后症状逐渐缓解。术后随访2³年,未见肿瘤复发及转移。结论:面动脉-颏下动脉供血的颏下岛状肌皮瓣血供明确可靠、制备方便,适宜修复腭部恶性肿瘤术后的组织缺损。     

22q11.2区DNA拷贝数变异与腭心面综合征临床表型关系的研究

目的:分析不同临床表型腭心面综合征患者在22q11.2区的DNA拷贝数变异类型,探讨二者的关系。方法:55例临床诊断为腭心面综合征患者的DNA,经过多重连接依赖探针扩增技术检测,记录临床表型。结果 :44例(80.0%)患者在22q11.2区有DNA拷贝数变异,其中43例(78.2%)出现22q11.2杂合性缺失,1例(1.8%)为22q11.2复制。在43例22q11.2缺失患者中,40例(93.0%)为3Mb典型缺失,3例(7.0%)为1.5Mb的近端缺失。另外,这43例患者均表现为典型面容和腭咽部畸形,37例(86.0%)表现出认知和行为障碍,23例(53.5%)有自身免疫功能缺陷,10例(23.3%)表现先天性心脏病。所有表现典型面容的患者均出现了22q11.2缺失,但3Mb缺失和1.5Mb缺失患者的临床表型没有明显不同。结论:典型面容可被认为是临床直接诊断腭心面综合征22q11.2缺失的重要依据。     

Factors affecting articulation skills in children with velocardiofacial syndrome and children with cleft palate or velopharyngeal dysfunction: a preliminary report.

OBJECTIVE: To examine the influence of speech perception, cognition, and implicit phonological learning on articulation skills of children with velocardiofacial syndrome (VCFS) and children with cleft palate or velopharyngeal dysfunction (VPD). DESIGN: Cross-sectional group experimental design. PARTICIPANTS: Eight children with VCFS and five children with nonsyndromic cleft palate or VPD. METHODS AND MEASURES: All children participated in a phonetic inventory task, speech perception task, implicit priming nonword repetition task, conversational sample, nonverbal intelligence test, and hearing screening. Speech tasks were scored for percentage of phonemes correctly produced. Group differences and relations among measures were examined using nonparametric statistics. RESULTS: Children in the VCFS group demonstrated significantly poorer articulation skills and lower standard scores of nonverbal intelligence compared with the children with cleft palate or VPD. There were no significant group differences in speech perception skills. For the implicit priming task, both groups of children were more accurate in producing primed nonwords than unprimed nonwords. Nonverbal intelligence and severity of velopharyngeal inadequacy for speech were correlated with articulation skills. CONCLUSIONS: In this study, children with VCFS had poorer articulation skills compared with children with cleft palate or VPD. Articulation difficulties seen in the children with VCFS did not appear to be associated with speech perception skills or the ability to learn new phonological representations. Future research should continue to examine relationships between articulation, cognition, and velopharyngeal dysfunction in a larger sample of children with cleft palate and VCFS.     

Dental development and tooth agenesis in children with velocardiofacial syndrome

BACKGROUND. Variations in dental development and tooth agenesis have been reported in children with velocardiofacial syndrome (VCFS). AIM. The aim was to evaluate the dental development and missing permanent teeth in children with VCFS. DESIGN. Forty-five children (23 girls) with VCFS who had visited the cleft palate and craniofacial centre were studied retrospectively from orthopantomograms taken at the mean age of 7.9 years (range 5.8-12.9). Thirteen of the children with VCFS had palatal clefts. The deletion of 22q11 was verified by FISH techniques. The dental stages were assessed by the method of Demirjian, and the dental age was calculated according to the Finnish dental maturity reference values. A paired Student's t-test was used in the statistical analysis. RESULTS. Eight children (17%), four with palatal clefts, had tooth agenesis. Four children (9%) had agenesis of mandibular incisors. The missing teeth (n = 19) were mainly mandibular incisors (n = 6), maxillary lateral incisors (n = 2), and maxillary second premolars (n = 4). The dental age of the children with VCFS was not different from their chronological age, but there was great individual variation. CONCLUSIONS. A high prevalence of missing permanent teeth, especially mandibular incisors, was observed. The need for thorough clinical and radiological dental examination in children with VCFS is emphasized.     

Is isolated palatal anomaly an indication to screen for 22q11 region deletion?

OBJECTIVE: Velocardiofacial syndrome (VCFS) is the most common multiple anomaly disorder associated with palatal clefting. Cytogenetic hemizygous deletion of 22q11 region is found in 80% of patients. The frequency of 22q11 deletion in patients presenting with isolated palatal anomalies has not been fully assessed. Our objective was to determine the frequency of the deletion in patients with isolated palatal anomalies. DESIGN: Patients were referred because of velopharyngeal insufficiency because of isolated congenital palatal anomalies. Diagnosis of palatal anomalies was confirmed by videonasopharyngoscopy, multiview videofluoroscopy and cephalometry. Other clinical findings suggestive of VCFS were sought, and subjects with these characteristics were excluded from the study. Peripheral blood samples from all patients were analyzed cytogenetically utilizing fluorescent in situ hybridization for the 22q11 region. RESULTS: Thirty-eight patients aged 3 to 31 years were included in the study. Nine had cleft palate, 7 cleft lip and palate, 10 overt and 11 occult submucous cleft palate, and 1 had a deep nasopharynx. No deletion of 22q11 region was detected in any of the evaluated patients. CONCLUSIONS: A routine screening for the 22q11 deletion in older children and adults presenting with an isolated palatal anomaly may not be required. Because other signs related to VCFS such as facial dysmorphism and behavioral or psychiatric disorders may evolve at an older age, young patients should be followed up and reevaluated for additional relevant symptoms that may lead to deletion evaluation. In light of the fact that the current literature is inconsistent, the relative small size of this study and the significant consequences of missed 22q11.2 deletion, more information is needed before definitive recommendations can be made.