发育性语音障碍儿童错误辅音与短时记忆的相关性研究

目的 观察音素和词汇水平上发育性语音障碍儿童错误辅音的特点,探讨与短时记忆的相关机制。 方法 选取符合纳入标准的36例发育性语音障碍儿童进行音素水平和词汇水平的辅音发音评估,按随机数字表法选取其中12例患儿作为发育性语音障碍组,另选10例健康儿童作为健康组,分别对2组儿童进行短时记忆评估。观察音素水平和词汇水平两种水平上36例发育性语音障碍儿童辅音发音的错误类型和错误率,分析不同发音水平与短时记忆的相关性。 结果 发育性语音障碍儿童在音素水平和词汇水平不同发音部位（唇音、舌尖前音、舌尖中音、舌尖后音、舌根音、舌面音）辅音的发音错误个数不同,其中舌尖中音、舌尖后音和舌根音差异有统计学意义（P<0.05）。而音素水平和词汇水平两种发音水平上患儿不同发音部位的错误率亦不相同,在音素水平上,替代性错误较高的是舌尖前音（42.86%）和舌尖中音（32.14%）,歪曲性错误较高的是舌尖后音（14.29 %）,省略性的错误率均较低,未习得率较高的是舌面音（9.52%）;在词汇水平上,替代性错误较高的是舌尖前音（71.43%）和舌尖后音（64.29%）,歪曲性错误较高的是舌尖前音（19.05%）和舌面音（30.95%）,省略性错误较高的是舌尖中音（16.07%）,未习得率较高的是舌尖后音（5.36%）;其中舌尖前音、舌尖后音的替代率以及舌尖中音的省略率在音素水平和词汇水平之间的差异有统计学意义(P<0.05)。发育性语音障碍组儿童的短时记忆广度和工作记忆广度分值均低于健康组,Wilcoxon秩和检验显示,2组儿童的短时记忆广度差异有统计学意义（Z=2.018,P=0.044）,工作记忆广度差异无统计学意义（Z=0.559,P=0.576）。2组儿童的发音水平与短时记忆广度呈中度相关（r=0.523,P<0.05）,与工作记忆广度无明显相关性(r=0.264,P>0.05)。 结论 发育性语音障碍儿童在词汇水平的辅音发音（舌尖中音、舌尖后音和舌根音）错误高于音素水平,以舌尖前音、舌尖后音的替代性错误和舌尖中音的省略性错误为主,可能与短时记忆广度有关。     

言语参数测量在脑损伤后神经性言语障碍患者中的应用

目的 探讨应用客观指标评估神经性言语障碍患者嗓音障碍的有效性,分析神经性言语障碍患者的嗓音声学特征。 方法 采用言语主观功能评估将29例言语障碍患者分为重度言语障碍组（19例）和轻度言语障碍组（10例）,用计算机言语测量仪对患者进行评估,比较和分析2组患者的最长声时（MPT）、最大数数能力（MCA）、平均基频、基频标准差、基频范围、平均强度、共振峰、下颌距和舌距的异常发生比率及其均值差异。 结果 所有患者的MPT和MCA值均存在异常,且重度组患者的MPT值［（4.37±3.89）s］明显短于轻度组［（8.22±4.03）s］,MCA 值［（3.39±3.77）s］亦明显弱于轻度组［（8.56±3.24）s］,组间差异均有统计学意义（P<0.05）。重度组在平均基频、基频标准差、F2（i）以及舌距指标中存在异常情况的比率为73.68%、63.16%、73.68%和78.95%,明显高于轻度组（30.00%、30.00%、30.00%和40.00%）,且组间差异均有统计学意义（P<0.05）。 结论 言语参数测量可以有效评估脑损伤后神经性言语障碍患者的言语功能;神经性言语障碍患者出现言语呼吸功能受损的现象非常普遍,值得重视。     

Genotype–phenotype relationship in a child with 2.3 Mb de novo interstitial 12p13.33-p13.32 deletion

Microdeletion 12p13.33, though very rare, is an emerging condition associated with variable phenotype including a specific speech delay sound disorder, labelled childhood apraxia of speech (CAS), intellectual disability (ID) and neurobehavioral problems.Here we report a de novo 2.3 Mb interstitial 12p13.33-p13.32 deletion in a 5 year-old child with mild ID, speech delay, microcephaly, muscular hypotonia, and joint laxity. In contrast to previously reported patients with 12p13.33 monosomy, our patient's interstitial deletion spans the 12p13.33-12p13.32 region with the distal breakpoint within intron 12 of CACNA1C.Phenotype–genotype comparison between our case, previously reported patients, and subjects with 12p13.33 deletions led us to propose that haploinsufficiency of CACNA1C may influence the variability of the patients' phenotype, since the gene resulted disrupted or entirely deleted in the majority of reported patients. In addition, phenotypic features such as microcephaly, muscular hypotonia, and joint laxity are mainly present in patients with monosomy of 12p13.33 extending to the 12p13.32 portion. A common region of ∼300 kb, harbouring EFCAB4B and PARP11, is deleted in patients with microcephaly while a second region of ∼700 kb, including TSPAN9 and PMTR8, could be associated with muscle hypotonia and joint laxity. These data reinforce the hypothesis that multiple haploinsufficient genes and age-dependent observation may concur to generate the variable phenotype associated with 12p13.33 deletion.     

Telegenetics: application of a tele-education program in genetic syndromes for Brazilian students

With the high occurrence of genetic anomalies in Brazil and the manifestations of communication disorders associated with these conditions, the development of educative actions that comprise these illnesses can bring unique benefits in the identification and appropriate treatment of these clinical pictures.

Objective

The aim of this study was to develop and analyze an educational program in genetic syndromes for elementary students applied in two Brazilian states, using an Interactive Tele-education model.

Material and Methods

The study was carried out in 4 schools: two in the state of São Paulo, Southeast Region, Brazil, and two in the state of Amazonas, North Region, Brazil. Forty-five students, both genders, aged between 13 and 14 years, of the 9^th grade of the basic education of both public and private system, were divided into two groups: 21 of São Paulo Group (SPG) and 24 of Amazonas Group (AMG). The educational program lasted about 3 months and was divided into two stages including both classroom and distance activities on genetic syndromes. The classroom activity was carried out separately in each school, with expository lessons, graphs and audiovisual contents. In the activity at a distance the educational content was presented to students by means of the Interactive Tele-education model. In this stage, the students had access a Cybertutor, using the Young Doctor Project methodology. In order to measure the effectiveness of the educational program, the Problem Situation Questionnaire (PSQ) and the Web Site Motivational Analysis Checklist adapted (FPM) were used.

Results

The program developed was effective for knowledge acquisition in 80% of the groups. FPM showed a high satisfaction index from the participants in relation to the Interactive Tele-education, evaluating the program as "awesome course". No statistically significant differences between the groups regarding type of school or state were observed.

Conclusion

Thus, the Tele-Education Program can be used as a tool for educational purposes in genetic syndromes of other populations, in several regions of Brazil.     

改良腭咽肌瓣重建腭裂术后腭咽闭合功能的临床研究

目的:研究改良腭咽肌瓣重建腭咽闭合功能治疗中的应用。方法:对25例腭裂术后腭咽闭合不全的患者实施改良的腭咽肌组织瓣转移术。结果:手术效果好,高位形成新的咽环,腭咽肌瓣同软腭协同作用完成腭咽闭合。鼻音计检测鼻音化率明显降低,语音功能改善。结论:改良腭咽肌组织瓣转移术用于治疗腭裂术后腭咽闭合功能不全,具有创伤小,手术时间短,并发症较少,手术效果稳定可靠。     

普通话噪声下言语测试在方言人群中的应用

目的:使用普通话版噪声下言语测试材料(mandarinhearinginnoisetest,MHINT),得到听力正常不同方言人群的MHINT测试结果。方法:选择听力正常、母语非普通话受试者82名完成MHINT测试。结果进行统计学分析,并与母语普通话结果进行比较。结果:得到母语非普通话82名受试者的328个结果。母语非普通话受试者和母语普通话受试者之间在安静环境,噪声方位0°、90°、270°的测试结果均差异有统计学意义(均P<0.01);母语非普通话高学历受试者与母语非普通话低学历受试者之间结果差异有统计学意义(P<0.01)。母语非普通话受试者按年龄、讲普通话时间等因素之间测试结果差异无统计学意义(P>0.05)。结论:母语非普通话人群进行MHINT测试,与母语普通话人群相比需要更高的言语信号声和信噪比。影响MHINT测试结果的因素有受试者母语是否为普通话以及受试者的文化水平。     

基于雨课堂的课前预习和课堂互动在语言治疗学课程教学中的应用

目的:探讨基于雨课堂的课前预习和课堂互动在语言治疗学课程教学中的应用效果。方法:本研究采用因素分析法。2019年9月至12月,选取中国医科大学2017级四年制康复治疗学专业55名学生为研究对象,在语言治疗学课程教学中采用雨课堂教学方式进行课前预习和课堂互动,通过期末考试总成绩评价教学效果,分析课前预习和课堂互动对期末总...     

Speech performance in adult patients undergoing Invisalign treatment:: A prospective clinical study

ObjectivesTo assess speech performance of adult patients undergoing orthodontic treatment with Invisalign.Materials and MethodsTwenty-four adult patients with Invisalign (Invisalign group: 6 men, 18 women; average age; 34.88 years) and 20 adult patients with fixed labial appliances (fixed group: 5 men, 15 women; average age; 38.85 years) were evaluated. Speech was recorded immediately before delivery of the first set of clear aligners or bonding of labial appliances (T₀), immediately after delivery or bonding (T₁), and 2 months after delivery or bonding (T₂). Speech was evaluated via a combination of three auditory analyses: (1) objective acoustic analysis through digital sonography, (2) semiobjective assessment by six speech and language pathologists, and (3) subjective assessment patient questionnaire.ResultsThe objective acoustic analysis showed a statistically significant difference over time from T₀ to T₁, T₁ to T₂, and T₀ to T₂ for Invisalign patients. The semiobjective analysis revealed a significant speech alteration from T₀ to T₁ and T₁ to T₂ for both groups, and from T₀ to T₂ in the Invisalign group. The subjective analysis showed a significant difference between means of Invisalign and fixed group patient perception at both T₁ and T₂.ConclusionsInvisalign treatment significantly affected speech, and although patients experience some level of adaptation, speech does not return to normal after 2 months of treatment.     

舌三针联合康复训练对脑梗死后假性延髓麻痹所致构音障碍的疗效观察

目的:探讨舌三针联合康复训练对脑梗死后假性延髓麻痹所致构音障碍疗效,以期提高脑卒中后患者生命质量。方法:选取2016年12月至2019年1月海南省人民医院收治的脑梗死后假性延髓麻痹所致构音障碍患者78例进行回顾性分析,按照治疗方法不同分为对照组和观察组,每组39例。对照组常规西医+康复训练治疗,观察组在以上基础上加用舌三针治疗,均连续治疗6周。观察2组治疗前、完成治疗后血脂、Frenchay构音评分、血液流变学、言语空气动力学指标变化并比较。完成治疗后总结疗效情况。结果:1)2组治疗完成后反射、呼吸、唇、颌、软腭、喉、舌、言语评分和治疗前比较均显著上升(P<0.05),且观察组上升幅度显著高于对照组(P<0.05)。2)2组治疗完成后三酰甘油(TG)、总胆固醇(TC)、低密度脂蛋白(LDL-C)较治疗前均显著下降,高密度脂蛋白胆固醇(HDL-C)较治疗前比较均显著上升(P<0.05),且观察组上升幅度显著高于对照组(P<0.05)。3)2组治疗完成后全血高低切黏度、血浆黏度、红细胞压积较治疗前均显著下降(P<0.05),且观察组优于对照组(P<0.05)。4)对照组治疗前、完成治疗后各指标比较差异无统计学意义(P>0.05),观察组治疗完成后平均声压级(MSDV)、音调(P)、最长发声时间(MPT)、平均气流率(MFR)、声门下压(SGP)、声门阻力(GR)、发声效率(VE)较治疗前均显著升高(P<0.05),且观察组优于对照组(P<0.05)。5)观察组治愈率38.46%、总有效率89.74%,显著高于对照组治愈率23.08%、总有效率79.49%(P<0.05)。结论:舌三针联合康复训练能通过促进脑微循环,改善血脂,促进言语功能来改善脑梗死后假性延髓麻痹所致构音障碍症状,提高生命质量。