2004年北京市2-6岁儿童广泛性发育障碍的现况调查

目的：通过针对儿童广泛性发育障碍的现况调查，了解北京市2～6岁儿童精神残疾现况。方法：采用容量比例概率分层整群抽样方法抽取样本21866人。用克氏孤独症行为量表进行筛查，用儿童孤独症评定量表和精神障碍诊断与统计手册（第四版）进行诊断。结果：确诊广泛性发育障碍儿童16人（儿童孤独症14人，不典型孤独症1人，Rett综合征1人），假阴性率0．80‰，广泛性发育障碍现患率为0．73‰，校正现患率为1．53‰，年平均发现率为0．11％。；广泛性发育障碍的城乡分布、年龄分布、性别分布、民族分布均无显著性差异（X^2：0．11～1．85，P=0．739—0．173），广泛性发育障碍的现患率随家庭经济收入的降低而升高（趋势X^2=4．70，P=0．030）；25％的确诊儿童父母尚未发现儿童存在异常或尚未带儿童就诊，80％的确诊儿童未得到治疗康复，所有确诊儿童都有康复需求。结论：北京市2～6岁儿童的广泛性发育障碍现患率并不低，家庭低收入是儿童发生广泛性发育障碍的危险因素，广泛性发育障碍儿童就诊率低，康复率低，所有儿童都有康复需求。政府及有关部门应充分重视这一群体及其需求。     

广泛性发育障碍与感觉统合失调的关系

目的:探讨广泛性发育障碍(PDD)与感觉统合失调之间的关系.方法:对90例我院门诊的广泛性发育障碍患儿进行评估,以儿童感觉统合发展评定量表(SIS)评定感觉统合失调问题,以儿童期孤独症评定量表(CARS)评价病情的严重程度.结果:PDD中感觉统合轻-重度失调率为92.2%,儿童孤独症组与Asperger综合症组的感觉统合失调率比较差异无显著性(x2=1.87,P＞0.05).PDD的CARS总分与触觉过分防御(r=-0.34)、本体感失调(r=-0.21)呈负相关,差异均有显著性(P＜0.05).结论:感觉统合失调与PDD密切相关,这为PDD的治疗提供了新思路.     

江门地区2-6岁儿童孤独症患病情况调查

目的了解江门市2-6岁儿童孤独症的患病情况以及影响因素,为早期发现、早期诊断提供治疗干预手段。方法采用整群抽样,用克氏孤独症行为量表进行初筛,用儿童孤独症家长评定量表进行复筛和确诊,并对计数资料的组间比较进行χ2检验。结果确诊为儿童孤独症的有97人,其中男65名,女32名。不同性别儿童孤独症患病率、城市和农村的儿童孤独症患病率、不同年龄组间的儿童孤独症患病率均存在明显差异。结论儿童孤独症往往预后不佳,早期发现和诊断意义重大,对于儿童孤独症的流行病学调查各地区应继续给予支持和重视。     

改良婴幼儿孤独症量表与婴幼儿孤独症量表临床应用比较

目的:比较改良婴幼儿孤独症量表(M-CHAT)与婴幼儿孤独症量表(CHAT)在广泛性发育障碍(PDDs)儿童的早期筛查中的适用性。方法:对69例符合美国精神障碍诊断和统计手册第4版(DSM-Ⅳ-TR)诊断标准的广泛性发育障碍儿童(PDDs组),和年龄、性别匹配的32名其他发育障碍儿童(对照组),同时运用M-CHAT和CHAT对被试进行临床评估,比较两种工具在临床筛查时的差异。结果:M-CHAT的灵敏度高于CHAT(0.99 vs.0.81,P0.01);而特异度则低于CHAT(0.16 vs.0.51,P0.01)。两种工具筛查阳性人数和阴性人数不一致[(95/6)vs.(72/29),P0.05]。年龄分层比较,在24月以下儿童中M-CHAT阳性数(17/0)和CHAT阳性数(15/2)均与临床诊断(12/5)一致;在36月以上儿童中,M-CHAT阳性数(6/1)和CHAT阳性数(3/4)均与临床诊断(6/1)一致,总体一致率为0.71(P0.05),两种工具筛查结果差异不具有统计学意义(P0.05);而在24～36月年龄组儿童中,M-CHAT阳性数比临床诊断高[(72/5)vs.(51/26),P0.05],M-CHAT与CHAT阳性数比临床诊断高[(72/5)vs.(54/23),P0.05)],而CHAT阳性数与临床诊断一致率为0.73,差异无统计学意义(P0.05)。结论:改良婴幼儿孤独症量表较婴幼儿孤独症量表灵敏度高,更适于正常人群的筛查;而婴幼儿孤独症量表运用在儿童发育障碍门诊时,与临床诊断的一致性较高。     

天津市1.5～3岁儿童孤独症行为特征分析

目的:了解天津市1.5～3岁孤独症患者早期行为特征,为早期诊断和早期干预提供依据。方法:采用分层整群随机抽样,在天津市9个区县抽取1.5～3岁儿童8006名,采用儿童行为发育调查表进行筛查。用DSM-IV诊断标准和儿童孤独症评定量表(Childhood Autism Rating Scale,CARS)对筛出的432名可疑孤独症儿童进行诊断并评估症状程度,用儿童孤独症行为量表(Autism Behavior Checklist,ABC)分析其行为障碍特征。运用上述量表对21例已确诊的孤独症儿童、84名可疑阳性儿童、84名正常儿童的早期行为表现进行比较。结果:孤独症儿童和可疑性儿童在语言能力异常、无食指指灯、无假扮游戏行为、不会正常玩玩具、孩子与人无目光接触等9个项目检出率均高于正常儿童(如,无食指指灯,71.4%、54.8%vs.14.3%,P0.05);孤独症儿童在对所指物品无注意、孩子与人无目光接触、语言能力异常、不能接受简单指令、不用语言表达需要5个项目检出率高于可疑阳性组(如,对所指物品无注意,38.1%vs.2.4%,P0.05)。ABC量表评定结果表明重度孤独症儿童(CARS总分≥36分)在感觉和躯体功能上得分均高于轻中度孤独症儿童[(8.00±3.30)vs.(5.15±2.58),(12.00±6.12)vs.(6.15±3.26);均P0.05]。结论:孤独症患儿在婴幼儿期即出现明显发育、行为障碍,应引起重视。     

杭州市1~3岁儿童父母亲孤独症相关信息知晓情况调查

目的:了解杭州市1~3岁儿童父母亲对孤独症相关信息知晓情况,为早期诊断及早期干预治疗提供科学依据。方法:采用横断面调查方法,在杭州市8个行政区内抽取7个社区卫生中心对5263名1~3岁儿童作为调查对象的父母亲中开展对孤独症信息知晓的现况调查。结果:父母亲对儿童孤独症三大症状的知晓主要表现在认为孤独症就是性格孤僻的有3004名(57.1%)、孤独症是一种严重的婴幼儿广泛发育障碍的有2578名(49.0%)、孤独症是语言发育障碍的有1800名(34.2%)。了解孤独症的渠道依次是报纸杂志、书籍、电视/电影、亲友邻居当中有自闭症、医生或专家介绍、其他。不同学历的父母亲对孤独症的了解差异显著(χ~2=105.86,129.27;P0.001)。结论:本研究的儿童父母亲对孤独症相关信息有一定的知晓,为进一步开展社区宣传教育提供了有利依据。     

首发精神分裂症儿童少年的共患病

目的:了解首发精神分裂症儿童少年共患病发生情况,探讨有共患病的首发儿童精神分裂症的临床特征及共患病发生的危险因素。方法:采用横断面研究和回顾式调查,对门诊及住院的52例首发符合美国精神障碍诊断与统计手册4版(DSM-IV)中精神分裂症诊断标准的儿童少年进行调查和评定。内容包括:一般状况调查、阳性与阴性症状量表(PANSS)评定、学龄儿童情感障碍和精神分裂症问卷(K-SADS-PL)和简明儿童少年国际神经精神访谈(MINI Kid)(父母版)中文版调查、儿童总评问卷(GAS)及社会功能缺陷筛查量表(SDSS)评定。结果:本样本精神分裂症患儿57.7%有共患病(30/52)。其中14人(26.9%)现有共患病,10人(19.2%)曾有共患病,6人(11.5%)曾有并现有共患病;24人(46.2%)患有1种共患病,4人(7.7%)患有2种共患病,2人(3.8%)患有3种共患病;共患病包括抑郁障碍19人(4人有自杀行为);惊恐障碍1人,广泛性焦虑障碍5人,强迫障碍4人,社交恐怖症2人;注意缺陷多动障碍5人;抽动障碍7人,包括短暂性抽动障碍5人,Tourette综合征2人;广泛性发育障碍2人,均为Asperger’s综合征。曾患共患病包括抑郁障碍5人(9.6%),惊恐障碍1人(1.9%),强迫障碍2人(3.8%),社交恐怖症1人(1.9%),注意缺陷多动障碍2人(3.8%);抽动障碍7人(13.5%)。现患共患病包括抑郁障碍14人(26.9%),广泛性焦虑障碍5人(9.6%),强迫障碍2人(3.8%),社交恐怖症1人(1.9%);注意缺陷多动障碍3人(5.8%);广泛性发育障碍2人(3.8%)。伴有共患病组PANSS量表总分、阳性量表评分、一般精神病理量表评分较无共患病组高(均P<0.05)。现患共患病组病程长于曾患共患病组(P<0.05)。结论:共患病在首发精神分裂症儿童少年中较为常见,伴有共患病的患儿症状更重,阳性症状和一般精神病理表现更突出,提示积极治疗共患病非常重要。     

孤独症儿童睡眠障碍对照研究

目的比较孤独症儿童与正常儿童睡眠障碍发生情况。方法对140例确诊的孤独症儿童和82例正常儿童,用自编睡眠及一般情况问卷进行调查。结果在140名孤独症儿童中,共有102名儿童目前或既往存在睡眠障碍,其中,男孩85人,女孩17人,孤独症儿童睡眠障碍的终生患病率为72.86%,男孩终生患病率(72.03%)和女孩终生患病率(77.27%)差异无统计学意义(χ2=1.912,P=0.384)。在82名正常儿童中,共有14名儿童目前或既往存在睡眠障碍,其中,男孩10人,女孩4人,正常儿童睡眠障碍的终生患病率为17.07%,男孩终生患病率(16.67%)和女孩终生患病率(18.19%)差异无统计学意义(χ2=0.080,P=0.117)。孤独症儿童的睡眠障碍发病率明显高于正常儿童,差异无统计学意义(χ2=32.407,P=0.000)。结论孤独症儿童睡眠障碍发生多于正常儿童,睡眠障碍是孤独症儿童主要症状之一。     

影响孤独症儿童母亲抑郁的相关因素

目的探讨孤独症儿童母亲的复原力、应对方式、社会支持对抑郁的影响。方法采用抑郁自评量表、复原力量表、简易应对方式问卷和社会支持评定量表对76名孤独症儿童母亲进行调查。结果①孤独症儿童母亲抑郁得分高于全国常模;②孤独症儿童母亲的抑郁与复原力、社会支持、积极应对方式间存在显著负相关,与消极应对方式呈正相关;③复原力、消极应对和积极应对3因子能显著预测抑郁(R2=0.563,F=30.901,P<0.001)。结论复原力和积极应对方式可有效减少孤独症儿童母亲抑郁的发生。     

注意缺陷多动障碍儿童的感觉统合能力与行为问题分析

目的:分析ADHD(AttentionDeficitHyperactivityDisorder)儿童的感觉统合能力与儿童行为问题的相关性。方法:应用儿童感觉统合能力发展评定量表和Conners儿童行为父母问卷评定65例ADHD儿童的感觉统合能力和行为问题。结果:87.7%的ADHD儿童伴有感觉统合失调,ADHD儿童多伴有品行障碍等行为问题;且不同程度感觉统合失调的ADHD儿童的心身问题和焦虑问题有统计学差异(P<0.01),ADHD儿童的感觉统合能力与儿童行为问题存在相关。结论:ADHD儿童多伴有感觉统合失调,且其感觉统合能力与儿童行为问题存在相关性。     

The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive condition caused by a defect in cholesterol synthesis. Affected children often have malformations and mental retardation. Autistic behaviors also are evident. The purpose of the present study was to determine the prevalence of autism spectrum disorders (ASDs) in children with SLOS. Fourteen children, 3-16 years old, were evaluated using three different methods to document autistic symptoms: (a) parent interview, (b) direct observation, and (c) a behavior checklist. Blood sterols were also measured at regular intervals. Each subject was determined to have Autistic Disorder, Pervasive Developmental Disorder, not otherwise specified (PDD NOS), or no diagnosis on the autism spectrum, based on DSM-IV criteria. Correlations among variables were calculated, and blood sterol levels were compared between diagnostic groups. Approximately three-fourths of the children with SLOS (71-86% depending on the evaluation method) had an ASD, about 50% diagnosed with Autistic Disorder and the rest with PDD NOS. The children's baseline cholesterol, 7-dehydrocholesterol (7-DHC), and 8-dehydrocholesterol (8-DHC) levels, and cholesterol levels following supplementation did not correlate with the presence or severity of autistic symptoms. These results suggest that most children with SLOS have some variant of autism. SLOS appears to have the most consistent relationship with autism of any single gene disorder. Therefore, a link between cholesterol metabolism and autism is suggested. With further study, these findings, together with knowledge of the genetic and biochemical defects in SLOS, will likely provide valuable insights into the causes of autism in general.     

CCMD-3与DSM-Ⅳ儿童孤独症两种诊断标准的比较

目的：比较中国精神疾病分类方案与诊断标准第三版（CCMD-3）与美国精神障碍诊断和统计手册第四版（DSM-Ⅳ）儿童孤独症诊断的一致性，探讨CCMD-3儿童孤独症诊断中存在的问题，确定诊断标准中各症状条目的出现频率。方法：运用CCMD-3和DSM-Ⅳ儿童孤独症诊断标准对连续首次就诊的255名可疑发育障碍儿童进行诊断。结果：两种诊断系统儿童孤独症、不典型孤独症、非孤独症诊断的总体一致率为96．08％；诊断差异主要来自于儿童孤独症和不典型孤独症的诊断不一致；个别症状在孤独症儿童中出现频率较低。结论：CCMD-3和DSM-Ⅳ儿童孤独症诊断标准具有较好的诊断一致性；为进一步提高诊断一致性，对CCMD-3中个别症状条目予以调整有所必要。     

轻型孤独症患儿行为特征的探讨

儿童孤独症是以社交障碍、语言障碍和重复刻板行为为特征的广泛性发育障碍 ,近年来发病率呈上升的趋势 ,其中轻型患儿占有相当的比例[1] 。因病因尚不清楚 ,因此尚无特异性的诊断手段 ,主要依靠临床症状和表现。而轻型孤独症患儿由于症状较轻或不典型 ,因此增加了临床诊断的困难 ,易被漏诊或误诊而使患儿失去获得早期干预的机会。目前国内有关孤独症的研究主要限于典型孤独症患儿 ,而有关轻型患儿的研究尚未见报道。我们对轻型孤独症患儿的临床表现及行为特征进行了探讨 ,旨在为轻型孤独症患儿的正确诊断提供依据。1　对象和方法1.1　研究对…     

Improvement of neurobehavioral disorders in children supplemented with magnesium-vitamin B6. II. Pervasive developmental disorder-autism.

Previous studies reported positive results with the use of Mg-vitamin B6 in autism. Despite these reports, this intervention remains controversial. In order to study relationships between changes in clinical symtoms and biological parameters, 33 children (mean age: 4 [1-10] years old) with clinical symptoms of pervasive developmental disorder or autism (PDD, as defined in DSM-IV) were followed for at least 6 months; another group of 36 children (same age) devoided of any known pathology was used as control. All PDD children received a magnesium-vit B6 (Mg-B6) regimen (6 mg/kg/d Mg and 0.6 mg/kg/d vit B6). Intraerythrocyte Mg2+ (Erc-Mg), serum Mg2+ (s-Mg) and blood ionized Ca2+ (i-Ca) were measured before and after treatment. Clinical symptoms of PDD were scored (0 to 4). In contrast to s-Mg or i-Ca, PDD children exhibited significantly lower Erc-Mg values than controls (2.17 +/- 0.4 versus 2.73 +/- 0.23 mmol/L; 16/33). The Mg-B6 regimen led to an increase in Erc-Mg values (2.42 +/- 0.41 (after) versus 2.17 +/- 0.4 mmol/l (before), 11/17) and this supplementation improved PDD symptoms in 23/33 children (p < 0.0001) with no adverse effects: social interactions (23/33), communication (24/33), stereotyped restricted behavior (18/33), and abnormal/delayed functioning (17/33); 15/33 children were improved in the first three groups of symptoms. When the Mg-B6 treatment was stopped, PDD symtoms reappeared in few weeks. A statistically significant relationship was found in Erc-Mg values from children before treatment and their mothers. In conclusion, this study suggests that the behavioral improvement observed with the combination vitamin B6-magnesium in PDD/autism is associated with concomitant modifications of Erc-Mg values.     

Long-term follow-up studies of bronchial asthma in children. I. Prognosis and risk factors

A questionnaire on the prognosis of bronchial asthma was sent in 1988 to 1,592 patients (1,038 males, 554 females) averaging 20 years of age after 12 years' follow up. The results were as follows: 75.6% in remission, 18.2% improved, 4.0% unchanged, 0.9% worse and 1.3% dead from asthma. The average age of onset was 2.7 years, about 1 year earlier than that in our report of 1965. The average age of remission (growing out of asthma) was 13.0 years for males and 12.3 years for females. The prognosis was significantly poorer among asthmatics with an onset age of under 2 years, with a 10-year history of asthma before the first visit to our hospital, with severe attack at the initial visit, a history of admissions for the attacks and food allergy. The asthmatic children with food allergy had a 1-year earlier onset of attack, a more severe attack at the initial visit, more eczema in infancy, and 2 or more other allergic complications than children without food allergy. We have to closely follow and care for those asthmatic children with high risk factors for an extended period.     

Etiologic yield of autistic spectrum disorders: a prospective study

Studies addressing etiologic yield in childhood developmental disabilities have mainly looked at individuals with developmental delay/mental retardation. The few studies addressing the question of etiologic yield in patients with pervasive developmental disorders (PDDs) had a major drawback, in that the enrolled subjects were diagnosed as having the autistic spectrum disorders based only on history and clinical examination, and/or on unspecified instruments. In addition, only some of these patients underwent a complete laboratory evaluation. To investigate the etiologic yield of PDDs, we undertook a large prospective study on subjects selected according to very strict criteria and diagnosed as having PDD based on the present "gold standard" (ADI-R and ADOS-G), and a clinical diagnosis made by a child psychiatrist. Eighty-five (85) patients with PDD and their first degree relatives participated in this study. These patients were selected from a sample of 236 subjects who had received a clinical diagnosis of PDD at the Stella Maris Institute between March 2002 and 2005. Selection criteria for entering the study were: (1) a diagnosis of PDD (with exclusion of the Rett syndrome) confirmed after the administration of the ADI-R (autism diagnostic interview-revised) and the ADOS-G (autism diagnostic observation schedule-generic). In addition, a clinical diagnosis was made by the child psychiatrist, on the basis of presence or absence of DSM-IV symptoms of autism; (2) chronological age between 4 and 18 years; (3) IQ>30; (4) availability of both biologic parents. Patients, 65/85 (76.5%), had autism, 18/85 (21.2%) had PDD-NOS, and the remaining 2/85 (2.3%) had Asperger syndrome. Ages varied between 4 years 2 months and 12 years 5 months (mean 7.6 years), and there was a marked male preponderance (68/85). All subjects underwent various laboratory studies and neuroimaging. With respect to possible etiologic determination, a detailed history and physical examination in this group of patients with PDD was informative in 10.5% (9/85). HRB karyotype was diagnostic in one, and molecular fragile X studies in one child. Brain MRI was informative in two children (2.3%) with relative macrocrania but no neurological features; and EEG was helpful in one child, identifying a Landau-Kleffner disorder. Audiometry and brainstem auditory evoked potentials (BAEPs) showed a bilateral sensorineural loss in another child. Metabolic evaluation gave normal results in all subjects. The results suggest an evaluation paradigm with reference to etiologic determination for individuals with PDDs that does not presently justify metabolic or neuroimaging on a screening basis. Recurrence risk, treatment implications, and significant and long-lasting emotional relief for the parents suggest that serious consideration be given to clinical genetic examination, genetic testing, EEG study (during wakefulness and sleep), and audiometry, despite a relatively low yield.     

The diagnostic utility of a genetics evaluation in children with pervasive developmental disorders.

PURPOSE: A genetics evaluation of children with pervasive developmental disorders (PDDs) identifies a diagnosis in 6% to 15% of cases. However, previous studies have not measured the incidence of genetic disorders among children with autistic-like features who do not necessarily meet the Diagnostic and Statistical Manual for Mental Disorders, Fourth Edition criteria for PDD. METHODS: We identified 101 patients at our institution referred for PDD, autism, Asperger syndrome, or autistic features. Seventy-eight were males and 23 were females, giving a male-to-female ratio of 3.4:1. No diagnosis was identified on examination alone, although Rett syndrome was suspected in six females. Seventeen patients did not undergo any type of testing because of noncompliance. RESULTS: Of the remaining 84 patients analyzed, seven (8.3%) were found to have abnormalities on testing. Three chromosomal anomalies were found: one with 5p duplication, one with low-level mosaicism for trisomy 21, and one with an unbalanced 10;22 translocation. Three females were diagnosed with Rett syndrome after MECP2 analysis identified a disease-causing mutation. The remaining patient was found to have an elevated urine orotic acid, with a normal ammonia level, of unknown significance. CONCLUSION: On the basis of our series, the yield of a genetics evaluation in patients with features of PDD who do not necessarily meet the Diagnostic and Statistical Manual for Mental Disorders, Fourth Edition criteria is 8.3%. Approximately half of these were the result of a chromosomal abnormality. Three cases of Rett syndrome were identified for which autistic behaviors are a well-described feature. These findings suggest that a high-resolution karyotype provides the greatest diagnostic yield for patients with autistic-like features. MECP2 analysis should be considered for females who present with autistic behaviors.     

95例儿童孤独症临床分析

目的：探讨儿童孤独症的临床特征,展望相对应的干预措施。方法：调查孤独症患儿的父母文化的水平、城乡比例、首诊主诉、发病与就诊时间间隔。采用Gesell发育量表测定发育商。Car's量表进行症状行为评定,用社会生活能力量表进行适应性行为评定。检验分析孤独症行为与适应性行为的相关性。结果：孤独症患儿父母文化水平大多为初、高中以上文化。孤独症患儿城乡比例为：2．8：1。首诊主诉症状以语言障碍为主（占84％）。患者从发病到就诊时间平均延迟31个月。孤独症行为的严重程度与社会生活能力缺陷的程度无相关性,症状特点以语言障碍及社会交往障碍最为突出。作者对此进行了分析并提出早期干预及行为,语言训练的相应建议。