脐血单个核细胞和脐带间充质干细胞治疗儿童孤独症的安全性与有效性

背景：目前国内外尚没有治疗儿童孤独症的金标准,康复治疗效果不佳。 目的：评价脐血单个核细胞和脐带间充质干细胞治疗儿童孤独症的临床安全性和有效性。 方法：37例儿童孤独症患者非随机分为脐血组、混合组和对照组。脐血组应用脐血单个核细胞加康复训练治疗;混合组联合应用脐血单个核细胞和脐带间充质干细胞加康复训练治疗;对照组单纯行康复训练治疗。脐血组和混合组患者在干细胞治疗前和首次治疗后1,2,6个月分别行相关指标实验室检查,并观察有无不良反应发生。3组患者在治疗前和首次治疗后1,2,6个月分别行儿童孤独症评定量表(CARS)和异常行为量表(ABC)评估。 结果与结论：脐血组和混合组患者在干细胞治疗前和首次治疗后1,2,6个月相关指标实验室检查未发现有意义异常变化,干细胞治疗后无严重不良反应发生;根据CARS和ABC评分,3组治疗均有效,其疗效比较：混合组优于脐血组,脐血组优于对照组。     

异常行为量表中文版在儿童孤独症群体中的信效度

目的:引进并探讨异常行为量表(Aberrant Behavior Checklist,ABC)在我国儿童孤独症群体的适用性。方法:对206例孤独症儿童(1.5~14.0岁)进行ABC评定,其中49例患儿由父母分别填写ABC,30例患儿于2~4周后由同一位家长再次评定,以检验评定者信度和重测信度;根据适用年龄范围对部分患儿评定儿童孤独症评定量表、孤独症行为评定量表、Conner父母评定量表及Achenbach儿童行为量表,经比较检验ABC的校标效度;对ABC结构模型进行验证性因素分析以检验结构效度。结果:ABC中文版各因子的评定者信度(ICC)在0.820~0.898之间(P<0.001),重测信度(ICC)0.873~0.944(P<0.001),各因子及总量表的内部一致性系数为0.748~0.951;ABC中文版各因子与儿童孤独症评定量表、孤独症行为评定量表、Conner父母评定量表及Achenbach儿童行为量表的相应因子间呈正相关(r=0.27~0.67,均P<0.01);验证性因素分析检验了结构的有效性(χ2/df=1.91,RMSEA=0.060,GFI=0.704,NFI=0.62,CFI=0.77)。结论:异常行为量表中文版的信、效度较好,适用于儿童孤独症的量化评估,但仍需进一步修订完善。     

An analysis of autism in fifty males with the fragile X syndrome

Fifty males with the fragile X [fra(X)] syndrome, which we consider synonymous with the Martin-Bell syndrome, were identified by a chromosome analysis of patients with developmental delays or mental retardation and family studies of known fra(X) pedigrees. These males were evaluated for autism using three criteria: 1) the DSM III diagnostic criteria for Infantile Autism; 2) the Autism Behavior Checklist (ABC); and 3) the Diagnostic Checklist for Behavior Disturbed Children, Form E2. Sixteen percent of patients fulfilled all of the DSM III criteria for Infantile Autism and an additional 30% fulfilled criteria for Infantile Autism Residual State. Thirty-one percent of patients had autism using the ABC checklist but none of the patients fit the classical Kanner syndrome as described by the E2 questionnaire. Some autistic traits were seen in almost all of the 50 fra(X) patients, including eye avoidance in 90%, handflapping, handbiting or handstereotypies in 88%, and language delays with language peculiarities, usually echolalic speech, in 96%. A pervasive lack of responsiveness was seen in 18% at their present age and in 44% in earlier childhood only. Autistic symptoms are common in the fra(X) syndrome. Therefore, any patient with developmental delays and autism or autistic manifestations should have a chromosomal analysis, including fra(X) examination.     

2～6岁儿童广泛性发育障碍的3年后随访

目的:对2004年北京市2～6岁儿童广泛性发育障碍调查中诊断为广泛性发育障碍的儿童进行随访研究,了解广泛性发育障碍儿童的近期预后。方法:在3年后对2004年调查中确诊的广泛性发育障碍儿童进行随访,由儿童精神科医师根据美国精神障碍诊断与统计手册第4版进行诊断,随访时用儿童孤独症评定量表、Gesell发展诊断量表或中国修订韦氏儿童智力量表、Achenbach儿童行为量表、儿童感觉统合能力发展评定量表的评定及总体调查问卷、精神专业调查问卷进行调查。结果:2004年确诊的29名广泛性发育障碍儿童中共有26名儿童得到随访。随访时间间隔(38.1±0.9)个月。21名(80.8%)儿童诊断同前;另5名(19.2%)儿童的诊断发生变化,1名儿童孤独症诊断转变为不典型孤独症。2名孤独症诊断儿童及2名不典型孤独症诊断儿童不再符合广泛性发育障碍的诊断标准。疾病严重程度转归为显著好转、好转、无变化、加重者分别为4人(15.4%)、4人(15.4%)、15人(57.7%)、2人(7.7%),1名儿童转归无法确定。随访确诊广泛性发育障碍的儿童中,90.9%伴有精神发育迟滞,76.2%伴有感觉统合失调,52.4%伴有过度活动,18.2%伴有肢体残疾,18.2%伴有癫痫。患儿既往康复治疗明显不足,教育安置有限。结论:多数广泛性发育障碍儿童近期预后不良,少数患儿近期预后良好。     

异常行为量表评估干细胞治疗儿童孤独症的临床疗效及效度评价

目的探索脐血单核细胞（CBMNCs）与脐带间充质干细胞（UCMSCs）治疗儿童孤独症的初步疗效,并对异常行为量表（ABC）的效度进行评价。方法选取2009年3月-2009年9月在山东省交通医院住院行干细胞治疗的儿童孤独症患者23例,分为CBMNCs＋康复训练治疗组（脐血组）和CBMNCs联合UCMSCs＋康复训练治疗组（混合组）;选取在济南明天儿童康复中心行康复训练治疗的儿童孤独症患者14例为对照组。治疗组患者共接受4次干细胞治疗,每周1次,分别收集患者基线、首次治疗后2、4、8、16、24周的儿童孤独症评定量表（CARS）及ABC评分结果,评价干细胞治疗儿童孤独症的临床疗效,并检验ABC量表评价儿童孤独症临床疗效的效度。结果①混合组、脐血组与对照组ABC评分在随访时间内均有一定程度的下降,24周时下降百分比分别为59．9％、38．0％、17．4％,三组间ABC评分比较差异具有统计学意义（P〈0．05）;②ABC分项分析：嗜睡、刻板行为因子6个月时混合组与脐血组和对照组比较,差异均具有统计学意义（P〈0．05）;混合组评分（16．00±7．92,9．33±5．81）明显低于脐血组（24．14±9．65,17．07±9．93）和对照组（30．54±5．03,17．31±4．05）;③ABC评分与CARS评分呈正相关,6个月时,两者之间相关系数r=0．87（P〈0．001）。结论应用干细胞联合康复训练治疗儿童孤独症疗效显著高于单纯康复训练治疗;对于ABC量表中嗜睡与刻板行为因子分析,三组都有显著改善,且CBMNCs联合UCMSCs＋康复治疗组的疗效最好;ABC量表在评价儿童孤独症临床疗效时具有较高的效度。     

孤独症患儿感觉异常行为分析

目的:了解孤独症患儿感觉异常行为的特征。方法:93例孤独症患儿,男87例,女6例,平均年龄5.3±2.9岁。参考Harison的《感觉行为列表》,适当修改后制成调查表,对患儿进行感觉异常行为调查。结果:本组患儿以视觉和听觉反应异常最为常见,见于绝大多数患儿;其次为痛觉反应迟钝和嗅觉异常行为,而触觉及味觉异常行为相对少见。重度患儿组多项感觉异常行为的发生率均明显高于轻度组。结论:孤独症患儿存在多种感觉异常行为,而且与孤独症的严重程度有关,其发生机制及对孤独症的影响值得进一步探讨。     

广州市幼儿园儿童孤独症谱系障碍患病率和相关因素

目的:了解广州市公立幼儿园接受主流教育的学龄前儿童孤独症谱系障碍(ASDs)的流行病学特征及其相关因素。方法:本研究为横断面研究。采用多阶段抽样,抽取广州市5区1市21所公立幼儿园2～6岁儿童7500人,使用克氏孤独症行为量表(CABRS)、儿童生长发育问卷和教师提名策略相结合的方法进行ASDs儿童的初筛,继而对可疑者进行现场观察、评估和诊断,统计和分析ASDs的患病情况及其相关因素。结果:(1)本样本ASDs的患病率75.4/10 000(95%CI53.8/10 000～97.0/10 000),其中孤独症29.5/10 000(95%CI16.1/10 000～43.1/10 000),高功能孤独症占16.7%,Asperger综合征为41.0/10 000(95%CI25.0/10 000～57.0/10 000),其他未加标明的广泛性发育障碍(包括非典型孤独症)为4.9/10 000(95%CI0/10 000～10.6/10 000),男女比例为6.6∶1;(2)教师提名策略对ASDs儿童初步筛查的灵敏度为95.6%,特异度为91.1%,Youden指数为0.867;(3)ASDs组父亲生育年龄在30～34岁以及35岁以上、母亲生育年龄在25～29岁和30～34岁、母亲受教育程度在本科及研究生以上以及母孕期情绪波动所占比例较非ASDs组大(P<0.05),进一步进行logistic回归分析示男性儿童、父亲年龄≥35岁和母孕期情绪波动为ASDs的危险因素。结论:广州市幼儿园接受主流教育的学龄前儿童ASDs患病率与国外报道相当,教师提名策略显示出客观性强、准确度高和效率高等优点,可推广使用,分析出的相关因素可以为孕期保健和教育工作提供针对性的建议。     

Autistic-like behavior in CHARGE syndrome

Children with CHARGE syndrome frequently exhibit moderate to severe behavior difficulties, and are often diagnosed with obsessive-compulsive disorder, attention deficit disorder, Tourette syndrome, and autism. Hartshorne and Cypher (2004) surveyed parents of 100 children with CHARGE worldwide and confirmed the prevalence of behaviors that are associated with these disorders. They also found behaviors that could be described as typical of persons who are deafblind. The present study examined whether the autistic-like behaviors of children with CHARGE are more similar to those of children who are deafblind, to those of children who are autistic or are unique to CHARGE. Surveys including the Autism Behavior Checklist (ABC) were mailed to families of 204 children with CHARGE, and 160 usable surveys were returned (78%). Total scores on the ABC for children with CHARGE were significantly different from the norms for those with autism, and those who were deafblind. However, the variance for CHARGE was larger than for the normative groups, and 27.5% of those with CHARGE could be classified as autistic. The pattern of subscale scores for those with CHARGE differed from the other normative groups.     

Characterizing sleep in children with autism spectrum disorders: a multidimensional approach

STUDY OBJECTIVES: To relate parentally reported sleep concerns in autism spectrum disorders (ASD) to polysomnographic (PSG) findings and measures of daytime behavior and autism symptomatology. DESIGN: Cross-sectional study involving validated questionnaires, sleep histories and diaries, 2 nights of PSG, and the Autism Diagnostic Observation Schedule (ADOS). SETTING: Vanderbilt University General Clinical Research Center Sleep Core. PARTICIPANTS: 21 children with ASD and 10 typically developing (TD) children, aged 4-10 years. Children were free of psychotropic medications, with no history of mental retardation or epileptic seizures. INTERVENTIONS: N/A. MEASUREMENTS AND RESULTS: Children with ASD were defined as "good sleepers" (10 children) and "poor sleepers" (11 children) on the basis of parental report; the age-comparable TD children were all reported by their parents to be good sleepers. Poor sleepers with ASD showed prolonged sleep latency and decreased sleep efficiency on night 1 of PSG and differed on insomnia-related subscales of the Children's Sleep Habits Questionnaire (CSHQ; increased sleep onset delay and decreased sleep duration). The good sleepers with ASD did not differ from the TD children in sleep architecture or on CSHQ domains. As compared with ASD good sleepers, the ASD poor sleepers also had higher scores related to affective problems on the Child Behavior Checklist and more problems with reciprocal social interaction on the ADOS. CONCLUSIONS: Parentally reported sleep concerns of insomnia in children with ASD are substantiated by validated sleep questionnaires and by PSG. Furthermore, good sleepers with ASD showed fewer affective problems and better social interactions than ASD poor sleepers.     

催产素在孤独症患者社交障碍中的作用及治疗潜能(综述)

孤独症是一种原因不明的广泛性神经发育障碍性疾病,至今尚无有效的治疗方法。作为孤独症的特征性症状之一,社交障碍严重影响患者的身心健康与生活质量。研究显示,催产素在社会交往中发挥重要作用,而催产素缺乏或利用不足可能与孤独症患者的社交障碍有关。本文总结了近年来关于催产素与孤独症社交障碍的研究进展,并提出催产素用于孤独症临床治疗的可能性,希望能够对孤独症的研究和治疗提供帮助。     

Sleep problems in children with autism spectrum disorders, developmental delays, and typical development: a population-based study

This study compared parent-reported sleep characteristics in 2- to 5-year-old children with autism spectrum disorders (ASD) to children with other developmental delays (DD) and typical development (TD). We included 529 children (303 ASD [167 males], 63 DD [46 males], and 163 TD [134 males]) enrolled in the CHARGE study, an ongoing population-based case-control study. The mean age of participants was 3.6 years (standard deviation, 0.8 years). ASD diagnosis was confirmed with Autism Diagnostic Interview-Revised (ADI-R) and Autism Diagnostic Observation Schedules (ADOS). Cognitive and adaptive functioning was assessed using Mullen Scales of Early Learning (MSEL) and Vineland Adaptive Behavior Scales (VABS), respectively. Demographic, medical and sleep history information were ascertained from California birth records, telephone interview, medical assessments at clinic visit, and parent-administered questionnaires. Fifty-three percent of children with ASD had at least one frequent sleep problem, followed by 46% of children with DD, and 32% of the TD group (P < 0.0001). Exploratory factor analyses of sleep history data yielded two factors: sleep onset problems and night waking. Children with ASD had marginally higher sleep onset factor scores and significantly higher night waking factor scores compared with the TD group. Factor scores for children with DD were intermediate between the ASD and TD groups. Cognitive or adaptive development did not predict severity of sleep problems in the ASD group.     

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…     

听觉统合训练改善孤独症儿童情绪行为的疗效

目的 探讨听觉统合训练改善孤独症儿童情绪行为的临床效果,为进一步探讨孤独症儿童的治疗途径提供临床依据。方法 选取我院2016年5月~2018年10月有情绪行为的120例孤独症儿童为研究对象,随机分为对照组和治疗组,各60例。对照组进行常规的康复训练,治疗组在常规康复训练的基础上配合听觉统合训练。采用孤独症谱系及相关发育障碍儿童评估用心理教育量表（C-PEP3）和中残联编制的《孤独症儿童发展评估量表》评估两组患儿情绪行为改善情况。结果 治疗前两组评分比较,差异无统计学意义（P＞0.05）;治疗后,两组C-PEP3评分均降低,且治疗组C-PEP3评分低于对照组,差异有统计学意义（P＜0.05）;治疗组患儿总有效率高于对照组,差异有统计学意义（P＜0.05）。结论 常规康复训练配合听觉统合训练可有效改善孤独症儿童情绪行为,提高临床疗效,矫正患儿听觉系统,从而有效改善患儿的情绪失调以及行为紊乱问题。     

Characteristics of the broader phenotype in autism: a study of siblings using the children's communication checklist-2.

Non-autistic relatives of people with autistic disorder have an increased risk of social and communicative difficulties: this is known as the "broad phenotype." Better methods for characterizing the broad phenotype are needed to facilitate identification of risk genes for autism. 29 siblings of 20 children with autistic disorder, 13 siblings of 9 children with PDDNOS, and 46 typically developing control children from 26 families were assessed by parental report using the Children's Communication Checklist-2 (CCC-2). Groups were matched on age and IQ and siblings with autism were excluded. Group mean scores on the CCC-2 differed on only one subscale, syntax. However, siblings of children with autism or PDDNOS were over-represented in the tails of the distributions of several scales, and 10 (24%) scored more than 2 SD below the control mean on a total score based on all 10 subscales. Only two of these 10 children scored above threshold on one or more scales of the Autism Diagnostic Interview-Revised (ADI-R). Children with abnormal scores on the CCC-2 total were characterized by low-verbal IQ and their fathers tended to score high on the social and communication scales of the Autism Quotient, a measure of the broad phenotype in adults. The CCC-2 shows promise as a quick screening device for the broad phenotype in non-autistic siblings of children with autism.     

Comparing phenotypes in patients with idiopathic autism to patients with velocardiofacial syndrome (22q11 DS) with and without autism

At least three research groups have reported that autism is diagnosed in up to 20% of children with velocardiofacial syndrome (VCFS). However the degree of phenotypic overlap between VCFS-affected children with autism and those with idiopathic autism has not been established. The purpose of this study was to define and differentiate the behavioral phenotype of autism in samples of children with either (VCFS) or idiopathic autism. Five groups of children ages 5-15 were included in the between-group design. Parent report of autism behaviors (based on the Autism Diagnostic Interview-Revised, ADI-R) were compared between children with VCFS, children with VCFS and autism (VCFS + autism), siblings of the children with VCFS, a community control group, and a group of children with idiopathic autism. Autism diagnoses were based according to the ADI-R. Parental responses to the ADI-R indicated that relative to children with VCFS-only, children with idiopathic autism and children with VCFS + autism exhibited less make believe play and more rituals, motor stereotypies and repetitive use of objects. However several other core autism behaviors, including difficulties sharing attention, deficits in gestural communication and initiating conversation, and presence of circumscribed interests, appear to be phenotypic VCFS behaviors, characterizing children with VCFS regardless of an autism diagnosis. Accordingly, the autism phenotype in VCFS differs to some extent from that of idiopathic autism. Several features of idiopathic autism are spared in VCFS, and other features appear to be a function of the VCFS phenotype independent of autism. These findings carry implications for clinicians who diagnose and treat VCFS or autism, and for researchers who study genotype-phenotype associations in autism.     

Cognition,behavior and social competence of preterm low birth weight children at school age

OBJECTIVE:

The aim of this study was to assess the cognitive and behavioral development of preterm and low birth weight newborns living in a disadvantageous socioeconomic environment at school age.

METHODS:

This cross-sectional study included children aged 6-7 from a historical birth cohort of preterm (gestational age <37 weeks) and low birth weight (<2,500 g) infants. The Wechsler Intelligence Scale for Children III (WISC-III) was administered by a psychologist while the parents completed the Child Behavior Checklist. The results were compared to the test''s reference. The perinatal information and follow-up data were collected from the hospital files. The demographic data were collected from the parents. The current performance was compared with the results from the Denver II and Bayley II tests, which were administered during the first years of life.

RESULTS:

The total intelligence quotient varied from 70 to 140 (mean 98.7±15.8). The borderline intelligence quotient was observed in 9.3% of the children. The Child Behavior Checklist indicated a predominance of social competence problems (27.8%, CI 19.2 to 37.9) compared with behavioral problems (15.5%, CI 8.9 to 24.2). Both the Child Behavior Checklist domains, such as schooling, social and attention problems, and the cognitive scores were significantly associated with maternal education and family income. The results of the Denver and Bayley tests were associated with the cognitive performance (p<0.001) and the Child Behavior Checklist social profile, including aggressive and externalizing behavior (p<0.001).

CONCLUSIONS:

Our data suggest that even low-risk preterm newborns are at risk for developing disturbances in early school age, such as mild cognitive deficits and behavioral disorders. This risk might increase under unfavorable socioeconomic conditions.     

自闭症儿童的感觉统合训练疗法研究

目的了解儿童自闭症的发病特点及感觉统合训练的疗效。方法查阅相关文献,就儿童自闭症的临床表现、发病特点以及感觉统合训练的理论基础和在中国儿童中的疗效进行综述。结果儿童自闭症是一种严重的广泛性精神发育障碍,发病率较高,感觉统合训练在改善患儿语言、社交、感知觉和行为方面都具有令人满意的疗效。结论感觉统合训练是中国自闭症儿童治疗的一个有效方案。     

性别因素在孤独症发病中的作用(综述)

孤独症是一类病因未明的广泛性发育障碍性疾病,男性孤独症患病率明显高于女性,且患者大脑、心理和行为常表现出一定的极端雄性化倾向。本文对性别差异与孤独症发病的相关理论和研究进展进行了简要概述,并分析了性激素影响孤独症发病可能机制,希望能够对孤独症的预防和诊疗提供帮助。     

No association of FOXP2 and PTPRZ1 on 7q31 with autism from the Japanese population

Autism is a child-onset pervasive developmental disorder, with a significant role of genetic factors in its development. Genome-wide linkage studies have suggested a 7q region as a susceptibility locus for autism. We investigated several single nucleotide polymorphisms (SNPs) of Forkhead Box P2 (FOXP2) and Protein-Tyrosine Phosphatase, Receptor-type, Zeta-1 (PTPRZ1) at the 7q region in Japanese patients with autism and healthy controls. No significant difference was observed, after correction for the multiple testing, in allele, genotype or haplotype frequencies of the SNPs of FOXP2 or PTPRZ1 between patients and controls. No evidence was thus obtained for a major role of FOXP2 or PTPRZ1 in the development of autism.