孤独症谱系障碍临床特征分析

目的:探讨孤独症谱系障碍的临床特点,为诊断提供参考性建议。方法:分别对75例孤独症谱系障碍患儿及77例精神发育迟滞患儿进行Gesell发育诊断量表(GDDS)和儿童孤独症评定量表(CARS)的评估并进行比较;并将孤独症谱系障碍组按月龄分为0-36月组和37-72月组;对75例孤独症谱系障碍进行婴儿-初中学生社会生活能力量表(S-M量表)评定并与GDDS中的适应性得分进行比较。结果:①孤独症谱系障碍组和精神发育迟滞组患儿在GDDS中的得分没有明显差异,两组患儿语言均中度落后,其他条目均轻度落后;②在CARS的得分中孤独症谱系障碍组明显高于精神发育迟滞组;③孤独症谱系障碍0-36月组在视觉反应得分中高于37-72月组;而37-72月组在语言沟通、智力反应水平及一致性中得分高于0-36月组;④通过秩和检验,S-M量表得分与GDDS中适应性得分比较有显著差异。结论:孤独症谱系障碍患儿发育水平明显落后于同龄儿童,其中语言落后明显;孤独症谱系障碍患儿在言语沟通、社会互动等方面存在明显异常;孤独症谱系障碍患儿在智力反应水平及一致性方面存在不均衡性。     

孤独症患儿脑干听觉诱发电位研究

目的 :探讨孤独症患儿脑干听觉诱发电位 (BAEP)的表现。方法 :将研究对象分 3组 :(I)孤独症组 (AD ;2 2例 ) ;(II)单纯智力低下组 (MR ,2 0例 ) ;(III)正常对照组 (NG ,30例 )。智商测验采用 0 - 4岁小儿神经心理发育量表及韦氏智力量表 ;研究对象给予脑干听觉诱发电位测试。结果 :(1 )ADBAEP之III、V波潜伏期及I-III,I-V波峰间期 (IPL)较NG延长 (P <0 0 0 1 )。(2 )ADBAEP之III波潜伏期及I-III波IPL较MR组延长 (P <0 0 0 5)。 (3) :MRV波潜伏期及III-V、I-V波IPL较NG延长 (P <0 0 0 1 )。结论 :(1 )孤独症患儿的脑干听觉诱发电位异常 ,尤其是脑干传导时间 (BTT)的延长 ,提示脑干机能障碍导致信息向大脑传递通路的损害可能是造成孤独症患儿在认知、社会及语言能力等方面异常发育的原因之一。 (2 )孤独症患儿BAEP异常原因可能与孤独症本病特性有关而非伴随智力低下所致。     

脑干听觉反应（ABR）在青少年精神分裂症和孤独症中的应用

目的：探讨青少年精神分裂症（AS）和孤独症儿童（AC）在脑干听觉反应（ABR）检测中的特点。方法：应用美国Nicolet Bravo脑电生理仪及Click短声刺激,测查32例AS和30例孤独症（AC）和40名健康儿童（NC）的ABR。结果：AS组、AC组及NC组在绝对潜伏期波Ⅲ（Oz脑区）,绝对波幅波Ⅲ（Oz脑区）,波V（Oz脑区）上有差异极显著性（P〈0．01）。与NC组和AS组相比,绝对潜伏期波Ⅲ（Oz脑区）上,AC组延迟于NC组和AS组（P〈0．01）。波幅分析所见,绝对波幅Ⅲ（Oz脑区）AC组低于NC组和AS组（P〈0．01）;绝对波幅波V（Oz脑区）AC组也低于NC组和AS组。AS组与NC组比较,差异未达显著性（P〉0．05）。结论：ABR对临床辅助诊断AC和AS有初步参考价值。     

儿童孤独症的临床与神经电生理检测的研究

目的:探讨BAEP、EEG检测在孤独症患儿中的作用。方法:对2001～2007年经临床确诊为儿童孤独症并作BAEP及EEG检查的30例资料进行分析。结果:本组30例孤独症患儿中,BAEP正常11例(37%),异常19例(63%),其异常表现为Ⅲ波的PL、Ⅰ-Ⅲ波和Ⅲ-Ⅴ波的IPL延长。EEG正常23例(77%),异常7例(23%)。BAEP与EEG两者的异常率比较,经χ2检验,P&lt;0.05。结论:研究发现虽然BAEP异常率和EEG的异常率有差异(前者明显高于后者),但可以说有部分孤独症患儿存在BAEP、EEG异常是无可置疑的,孤独症患儿BAEP的异常可能与孤独症本身的特性有关。     

常规脑电图在儿童孤独症综合康复治疗中的临床价值

目的:分析和评价常规脑电图(EEG)在孤独症谱系障碍(ASD)儿童综合康复治疗中的临床价值。方法:36例2~7岁ASD患儿,进行综合康复治疗3个月,比较治疗前后常规EEG、临床症状、智力和语言水平的变化情况。结果:治疗前有异常或界限EEG表现的ASD患儿治疗后ABC量表总分及感觉、交往、生活自理因子得分,CARS量表总分,韦氏智力测验中操作智商和总智商,0~6岁儿童神经心理发育量表(儿心量表)中智龄、精细动作、适应能力、语言和社交行为得分,S-S语言发育迟缓评定量各项得分均较治疗前有明显改善(P<0.05),且有5例患儿EEG表现转为正常(P<0.01)。而治疗前EEG正常表现的ASD患儿治疗后仅CARS量表分,操作智商和总智商,S-S语言发育迟缓量表中语言理解分和总分有改善(P<0.05),对智力发育(4岁以下)、临床症状(家长访谈角度)和言语水平(言语表达、言语符号、动作性课题)改善不佳(P>0.05)。结论:常规EEG检测可作为一种评价康复治疗后脑功能变化的方法,也可用于指导孤独症儿童综合康复治疗方案的选择和疗效的预测。     

孤独症患者脑干听觉通路功能的评估与研究

目的：研究孤独症患者脑干听觉通路的功能状态,并探讨其可能的构建模式。方法：采用脑干听觉诱发电位（BAEP）技术对36例孤独症患者（孤独症组）与27例对照者（对照组）进行测试,分析比较BAEP成分的组问差异。结果：孤独症组BAEP中双侧Ⅲ、V波的潜伏期（PL）和各峰间期（IPL）均较对照组延长,其中右侧Ⅲ波PL和双侧V波PL延长之组间差异显著（P〈O．05）,左侧Ⅲ-V波和双侧I—V波IPL延长组间差异显著（P〈0．05）。结论：孤独症患者存在脑干听觉通路功能异常或脑干功能发育不成熟。脑干传导时间延长产生的听觉信息传递失真与中枢性听觉紊乱可能是孤独症形成的构建模式之一。     

KCNB1基因新发突变致神经发育障碍1例报告

目的探讨KCNB1基因突变所致的神经发育障碍患儿的临床表型和基因型特点,提高对本病致病基因及其临床表型的认识。方法回顾分析1例因发育迟缓就诊,经基因检测确诊为KCNB1基因突变所致神经发育障碍患儿的临床资料。结果患儿临床表现为全面发育迟缓伴孤独症样表现、肌张力低下及脑电图异常,没有癫痫发作。实验室生化及代谢分析未见异常。外显子组测序鉴定患儿存在杂合性KCNB1变异p.A339P。结论 KCNB1相关脑病病情普遍较重,预后不佳,而伴癫痫者可能预后更差。但癫痫发作并非该类,尤其是儿童早期,患者的必要诊断依据。     

良性家族性新生儿惊厥患儿的KCNQ3基因变异分析

目的 对一例无热性癫痫发作,合并发育落后和孤独症谱系障碍(ASD)的患儿及家系进行遗传学病因诊断和探讨其致病基因特点。方法 采集该患儿的临床资料,应用全外显子测序技术检测患儿的致病基因,对可疑的基因变异位点进行Sanger法测序验证,并同时检测患儿双亲的变异情况。结果 患儿6岁开始出现无热抽搐,经治疗,1个月后症状明显好转。发作间期为异常的癫痫脑电图：持续性多灶性棘波;经发育评估,合并全面发育迟缓,重度孤独症谱系障碍;测序结果显示患儿KCNQ3基因存在c.689G>A(p.Arg230His)的错义杂合变异,且变异为未见报道的新生变异;根据美国ACMG对遗传变异分类标准和指南,KCNQ3基因c.689G>A变异评级为“可能致病性变异”(PS2+PM2+PM5+PP3)。结论 患儿携带的KCNQ3基因的杂合变异,应该是其致病原因,患儿诊断为良性家族性新生儿惊厥(BFNS),同时为该患儿的治疗和遗传咨询提供了临床依据。     

儿童自闭症的分析和心理治疗

儿童自闭症又称儿童孤独症 ( Infantile autism) ,起病年龄在 30个月之前 ,以精神和心理发育的广泛性障碍为特征的一种疾病。美国儿童及成人孤独症学会顾问委员会认为孤独症儿童行为有以下 4个特征 :发育速度和顺序异常 ;对任何一种感觉刺激的反应异常 ;言语、语言认知及非言语性认知异常。与人、物和事的联系异常。自婴儿期起病 ,极度孤独 ,不能交往 ,对某些物体特殊依恋 ,预后欠佳[1 ] 。1　主要表现社会交往障碍。不能与他人 (包括父母 )建立正常的社会交往 ,社交缺陷是其核心症状。有的患儿早期就表现避免与他人目光接触 ,缺少面部表情…     

68例智力低下/发育迟缓患儿基因组拷贝数变异分析

目的应用单核苷酸多态性微阵列技术(single nucleotide polymorphism microarray technology, SNP array)对不明原因智力低下/发育迟缓患儿进行全基因组拷贝数变异(copy number variations, CNVs)分析, 明确致病性CNVs所致染色体失衡, 并分析CNVs的致病机制, 为遗传咨询及产前诊断提供理论基础。方法根据入组标准, 收集智力低下/发育迟缓患儿68例, 应用SNP array对患儿进行染色体基因组CNVs检测, 对检出的CNVs通过对比国际公认基因组数据库, 参考美国医学遗传学与基因组学学会(ACMG)变异分类指南(2019), 判断CNVs的临床意义。结果 68例不明原因智力低下/发育迟缓患儿中, 24例患儿明确诊断, 共检出27个致病性CNVs, 包括11个重复和16个缺失, 分布于16条染色体, 涉及11种综合征。SNP array技术对不明原因的智力低下/发育迟缓患儿的诊断率为35.3%(24/68)。结论染色体基因组CNVs是导致不明原因智力低下/发育迟缓发生的主要遗传学致病原因, SNP ar...     

Auditory functions in children at schools for the deaf

OBJECTIVE: To evaluate auditory functions in children at schools for the deaf in Turkey. DESIGN: A total of 218 children who were attending the school for deaf children were involved in the study. Familial and medical histories were obtained, and otoscopic examinations were performed. Immittance audiometry, acoustic reflex testing, pure tone audiometry, otoacoustic emission and auditory brain stem response tests were performed. RESULTS: The mean age of identification of hearing loss was 48 months. Impacted wax was the most common otoscopic finding that was seen in 49 (22.47%) of children. Nontype-A tympanograms were found in 18 (8.25%) of children. One-hundred-eighty-nine (86.69%) children had profound hearing loss, and 29 (10.3%) had severe hearing loss on pure tone audiometry. On auditory brain stem response testing, 192 (88.07%) children had profound hearing loss, and 26 (11.41%) had severe hearing loss. Only one child had auditory neuropathy/dys-synchrony, as his otoacoustic emission results were normal without synchronous auditory brain stem responses. The hearing threshold levels were found >105 dB in 28 children only with pure tone audiometry. CONCLUSION: Early auditory screening is necessary to identify the children at risk. All hearing disorders cannot be detected by subjective or objective audiometric tests only. Pure tone audiometry still has a role in determining hearing threshold levels. The audiological research directions should be directed towards routine pure tone audiometry, otoacoustic emission and auditory brain stem response assessment for all hearing impaired children to enable an successful treatment.     

Electrophysiologic assessment of central auditory processing by auditory brainstem responses in children with autism spectrum disorders

In addition to aberrant features in the speech, children with Autism Spectrum Disorder (ASD) may present unusual responses to sensory stimuli, especially to auditory stimuli. We investigated the auditory ability of children with ASD by using Auditory Brainstem Responses (ABR) as they can directly judge both hearing status and the integrity of auditory brainstem pathways. One hundred twenty-one children (71: ASD; M 58/ F 13, mean age; 41.8 months, 50: control group; M 41/ F 9, mean age; 38 months) were included in the study. As compared with the values in the control group, the latency of wave V, wave I-V, and wave III-V inter-peak latencies were significantly prolonged (p<0.05) in the ASD group. The findings indicate that children with ASD have a dysfunction or immaturity of the central auditory nervous system. We suggest any children with prolonged III-V inter-peak latencies, especially high functioning children should be further evaluated for central auditory processing to set up a more appropriate treatment plan.     

Noise-induced tinnitus: auditory evoked potential in symptomatic and asymptomatic patients

OBJECTIVES:

We evaluated the central auditory pathways in workers with noise-induced tinnitus with normal hearing thresholds, compared the auditory brainstem response results in groups with and without tinnitus and correlated the tinnitus location to the auditory brainstem response findings in individuals with a history of occupational noise exposure.

METHOD:

Sixty individuals participated in the study and the following procedures were performed: anamnesis, immittance measures, pure-tone air conduction thresholds at all frequencies between 0.25–8 kHz and auditory brainstem response.

RESULTS:

The mean auditory brainstem response latencies were lower in the Control group than in the Tinnitus group, but no significant differences between the groups were observed. Qualitative analysis showed more alterations in the lower brainstem in the Tinnitus group. The strongest relationship between tinnitus location and auditory brainstem response alterations was detected in individuals with bilateral tinnitus and bilateral auditory brainstem response alterations compared with patients with unilateral alterations.

CONCLUSION:

Our findings suggest the occurrence of a possible dysfunction in the central auditory nervous system (brainstem) in individuals with noise-induced tinnitus and a normal hearing threshold.     

豚鼠线粒体DNA4568缺失与老年性聋的关系

目的 探讨豚鼠听觉器官中线粒体DNA(mitochondrial DNA, mtDNA)4568缺失与老年性聋的关系.方法 将44只豚鼠分为两组A组青年豚鼠22只;B组老年豚鼠22只.再将B组分为B1组(老年听力正常组6只)和B2组(老年聋组16只).应用听觉脑干反应(auditory brainstem response, ABR)测试豚鼠听力阈值,以左耳听阈为评判标准,并提取耳蜗螺旋器、听神经、大脑颞叶组织和外周血中的DNA,采用PCR技术检测mtDNA4568大片段缺失的情况,并与耳聋程度作比较. 结果 老年聋组(B2)豚鼠的ABR平均听阈值为(57.33±4.65)dBSPL,明显高于老年听力正常组B1[(23.00±1.43)dBSPL]和青年组[A组(15.90±1.05)dBSPL];老年组不同器官组织中mtDNA4568缺失率均明显高于青年组;老年聋组耳蜗螺旋器组织和听神经组织中mtDNA4568缺失率明显高于老年听力正常组;而大脑颞叶组织mtDNA4568缺失率在两组间差异无统计学意义;血液中仅极少数存在mtDNA缺失,未纳入统计分析.结论 豚鼠mtDNA4568缺失的发生与老龄有关;与听觉有关的耳蜗螺旋器组织和听神经组织中mtDNA4568缺失与老年性聋有关;大脑颞叶组织和外周血中mtDNA4568缺失与老年性聋的关系尚待进一步研究.     

In vivo auditory brain mapping in mice with Mn-enhanced MRI

There are currently no noninvasive imaging methods available for auditory brain mapping in mice, despite the increasing use of genetically engineered mice to study auditory brain development and hearing loss. We developed a manganese-enhanced MRI (MEMRI) method to map regions of accumulated sound-evoked activity in awake, normally behaving mice. To demonstrate its utility for high-resolution (100-microm) brain mapping, we used MEMRI to show the tonotopic organization of the mouse inferior colliculus. To test its efficacy in an experimental setting, we acquired data from mice experiencing unilateral conductive hearing loss at different ages. Larger and persistent changes in auditory brainstem activity resulted when hearing loss occurred before the onset of hearing, showing that early hearing loss biases the response toward the functional ear. Thus, MEMRI provides a sensitive and effective method for mapping the mouse auditory brainstem and has great potential for a range of functional neuroimaging studies in normal and mutant mice.     

Auditory evoked potentials: predicting speech therapy outcomes in children with phonological disorders

OBJECTIVES:

This study investigated whether neurophysiologic responses (auditory evoked potentials) differ between typically developed children and children with phonological disorders and whether these responses are modified in children with phonological disorders after speech therapy.

METHODS:

The participants included 24 typically developing children (Control Group, mean age: eight years and ten months) and 23 children clinically diagnosed with phonological disorders (Study Group, mean age: eight years and eleven months). Additionally, 12 study group children were enrolled in speech therapy (Study Group 1), and 11 were not enrolled in speech therapy (Study Group 2). The subjects were submitted to the following procedures: conventional audiological, auditory brainstem response, auditory middle-latency response, and P300 assessments. All participants presented with normal hearing thresholds. The study group 1 subjects were reassessed after 12 speech therapy sessions, and the study group 2 subjects were reassessed 3 months after the initial assessment. Electrophysiological results were compared between the groups.

RESULTS:

Latency differences were observed between the groups (the control and study groups) regarding the auditory brainstem response and the P300 tests. Additionally, the P300 responses improved in the study group 1 children after speech therapy.

CONCLUSION:

The findings suggest that children with phonological disorders have impaired auditory brainstem and cortical region pathways that may benefit from speech therapy.     

弱智儿童听觉中潜伏期反应和40Hz相关电位

目的：对弱智儿童４０Ｈｚ听觉相关电位（４０ＨｚＡＥＲＰ）、听觉中潜伏期反应（ＭＬＲ）和听性脑干反应（ＡＢＲ）检测结果进行比较和评估。方法：在作过ＡＢＲ测试的基础上，对６５例（１３０耳）弱智儿童和３０例（６０耳）正常儿童记录４０ＨｚＡＥＲＰ和ＭＬＲ，对两组各项结果进行比较。结果：弱智组４０ＨｚＡＥＲＰ和ＭＬＲ波形出现率在２０ｄＢ（ｎＨＬ）声强刺激时明显低于正常组（Ｐ＜０．００１）；４０ＨｚＡＥＲＰ反应阈较正常儿童增高（Ｐ＜０．０１）；弱智组ＭＬＲ波潜伏期较正常儿稍延长；ＭＬＲ各波振幅较正常组明显降低（Ｐ＜０．０５）。４０ＨｚＡＥＲＰ检测弱智组的波形出现率、反应阈值等与正常组儿童的差异小于ＡＢＲ。结论：弱智组平均听力较正常儿童差；４０ＨｚＡＥＲＰ在评价弱智儿童听力时敏感性比ＡＢＲ高，更能检测出患者存在的低频残余听力     

Detection of perinatal cytomegalovirus infection and sensorineural hearing loss in belgian infants by measurement of automated auditory brainstem response

Since auditory disability causes serious problems in the development of speech and in the total development of a child, it is crucial to diagnose possible hearing impairment as soon as possible after birth. This study evaluates the neonatal hearing screening program in Flanders, Belgium. The auditory ability of 118,438 babies was tested using the automated auditory brainstem response. We selected 194 babies with indicative hearing impairment and 332 matched controls to investigate the association between the presence of human cytomegalovirus (HCMV) in urine samples and sensorineural hearing loss and to analyze the sensibility and specificity of a cell culture assay and a quantitative PCR detection method. Our results indicate that significantly more babies with confirmed hearing impairment were HCMV positive after birth. Further, based on the results of our study, babies with HCMV viral loads above 4.5 log copies/ml urine seem to be 1.4 times more likely to have confirmed hearing impairment. Our follow-up study suggests that the hearing impairment of children infected with HCMV after birth is less likely to improve than that of HCMV-negative infants. Our results confirm that the presence of HCMV before or shortly after birth influences the outcome of hearing impairment.