基于高通量测序分析孤独症谱系障碍儿童肠道菌群的构成变化

目的 探讨孤独症谱系障碍(ASD)儿童肠道菌群的变化.方法 收集35例ASD患儿(ASD组)和35名体检健康儿童(正常对照组)粪便样本,提取基因组DNA,用Illumina测序平台进行测序分析,确定群体的肠道菌群特征.结果 ASD组与正常对照组的肠道菌群结构存在差异.在门水平上,ASD组与正常对照组优势菌门厚壁菌门、拟...     

孤独症谱系障碍患儿不同血清总25-羟维生素D水平与肠道菌群的差异性研究

  目的  探究孤独症谱系障碍(autism spectrum disorder,ASD)患儿维生素D正常与缺乏状态下的肠道菌群差异及血清总25-羟维生素D[total 25-hydroxyvitamin D,T-25(OH)D]水平与肠道菌群的相关性。  方法  回顾性纳入2019年10月至2022年2月于北京协和医院风湿免疫科门诊就诊的1~12岁ASD患儿的临床资料。采用液相色谱串联质谱法检测ASD患儿的血清T- 25(OH)D水平,并根据血清T- 25(OH)D水平将其分为维生素D正常组[T-25(OH)D＞30 μg/L]、不足组[20 μg/L≤T-25(OH)D ≤30 μg/L]和缺乏组[T-25(OH)D＜20 μg/L]。应用生物信息学方法分析ASD患儿的肠道宏基因组测序结果。  结果  共46例符合纳入和排除标准的ASD患儿纳入本研究,维生素D正常组、不足组、缺乏组分别为15例、16例、15例。线性判别分析发现,维生素D缺乏组的沃氏嗜胆菌、Adlercreutzia equolifaciens、Asaccharobacter celatus、大肠埃希菌显著升高;而脆弱拟杆菌和Hungatella hathewayi丰度显著降低。沃氏嗜胆菌和Adlercreutzia equolifaciens丰度与血清T- 25(OH)D水平均呈负相关(r=-0.45, fdr=0.055, P=0.002; r=-0.44, fdr=0.055, P=0.003);脆弱拟杆菌丰度与血清T- 25(OH)D水平呈正相关(r=0.42, fdr=0.073, P=0.004)。  结论  ASD患儿的维生素D缺乏状态可能加重肠道菌群紊乱,血清T-25(OH)水平降低可能使潜在有害菌定植增加、益生菌定植减少。本研究为ASD患儿积极补充维生素D提供了证据支持。     

儿童孤独症谱系障碍的早期筛查

目的分析2013~2015年儿童保健门诊确诊为孤独症谱系障碍(ASD)的6岁以下儿童的筛查量表及发育商,实现ASD患儿的早期诊断、早期干预。方法对91例符合美国精神障碍诊断与统计手册第五版(DSM-Ⅴ)诊断标准的ASD儿童(ASD组),及年龄、性别匹配的70例心理行为发育正常儿童(对照组),运用DSM-Ⅴ、孤独症行为量表(ABC)、改良婴幼儿孤独症量表(M-CHAT)及Gesell发育量表对被试儿童进行临床评估。结果 M-CHAT阳性筛查结果与临床诊断标准一致性较好,差异无统计学意义(P0.1)。ASD组适应性、精细动作、大运动、语言、个人-社交5个能区的发育商较对照组降低,差异有统计学意义(P0.001)。ASD组1~3岁与3~6岁比较,随年龄增长,语言、个人-社交发育商差异无统计学意义(P0.05)。结论 ASD患儿社会沟通、社会交往能力缺陷,行为发育偏离,使用临床量表早期筛查,辅助ASD的临床诊断,实现早期干预,可改善预后,促进患儿早期回归社会。     

孤独症谱系障碍儿童的综合干预模式

孤独症谱系障碍（Autism Spectrum Disorders , ASD）是一类以社交沟通缺陷以及刻板行为为主要表现的发育性疾病群,患病率超过1％［1］。目前,关于孤独症的干预方法主要有定向干预和综合干预模式（Comprehensive Treatment Models ,CTMs）两类［2］。ASD患者一旦确诊应尽早接受综合干预。本研究对综合干预模式的定义、具体确定标准、目标、分类等进行综述,以期为国内的相关研究和实践提供借鉴。     

儿童孤独症谱系障碍评估工具的研究进展

目的 本文主要回顾了国内外儿童孤独症谱系障碍常用的评估工具,分析了各类工具的基本内容、信效度、适用范围及应用情况等,并据此提出我国在此领域的研究方向,旨在为儿童孤独症谱系障碍的临床诊断、筛查和科学研究提供可参考的依据.     

孤独症谱系障碍与母亲孕期增重、孕前BMI的关联性研究

目的探讨母亲孕期增重、孕前BMI与中国广东汉族人群子代孤独症谱系障碍(autism spectrum disorder, ASD)的关联性及其可能存在的临床意义。方法选取ASD患儿279例、其发育正常同胞25例及年龄匹配的发育正常儿童139例,完善其围产期资料及母亲孕产期资料,并进行统计学分析。结果 1)在ASD患儿及其发育正常同胞对照中,母亲2次妊娠期间孕期增重(t=1.221,P=0.234)、孕前体重指数(body mass index, BMI)(t=0.715,P=0.482)差异无统计学意义,校正母亲生产年龄及孕前BMI(或孕期增重)等混杂因素后,2组孕期增重(F=0.024,P=0.878)或孕前BMI(F=0.002,P=0.961)间差异亦无统计学意义。2)ASD患儿及发育正常儿童母亲孕期增重(t=-0.390,P=0.696)、孕前BMI(t=0.715,P=0.482)间的差异无统计学意义,对混杂因素进行校正后,2组母亲孕期增重(F=0.374,P=0.541)或孕前BMI(F=0.016,P=0.898)间的差异无统计学意义。结论母亲孕期增重及孕前BMI可能与中国广东汉族人群子代ASD的发病无显著相关。     

孤独症谱系障碍儿童合并胃肠道症状的研究进展

孤独症谱系障碍(autism spectrum disorder,ASD)是以社会交流、交往缺陷以及限制、重复性的行为、兴趣和活动及感知觉异常为特征的复杂神经发育障碍性疾病,常伴有其他相关临床问题,如情绪障碍、睡眠紊乱、胃肠道症状和癫痫等[1].胃肠道症状是ASD儿童较为常见的合并症状.Bres-nahan等研究发现,...     

孤独症谱系障碍儿童的发育水平分析

目的通过分析孤独症谱系障碍（ASDs）儿童的发育水平,为儿保门诊ASDs的早期识别提供一定的临床依据。方法采用病例对照研究分析明确诊断为ASDs的儿童23例与同期门诊健康体检儿童23例的临床资料,采用《0-6岁小儿神经心理发育诊断量表》进行发育水平评估。结果ASDs儿童发育商均低于对照组,尤其是语言、社会行为和精细动作。结论针对发育商低下的儿童一定要考虑ASDs的可能性。     

Risk Factors for Overweight in Children with Autism Spectrum Disorder

Previous literature suggests children with autism spectrum disorder (ASD) have a higher prevalence of excess weight than typically developing (TD) children, but information addressing risk factor concordance between those with ASD and TD children is lacking. We used a retrospective analysis of children (N = 2610) who visited an Autism Speaks Autism Treatment Network (AS-ATN) center in the United States or Canada. This analysis occurred concurrently with two other research teams within AS-ATN. We found substantial agreement between predictors of weight in children with ASD and known correlates of obesity in typical children. These included Asian and Hispanic ethnicities, four medication groups, and psychopathological comorbidities such as aggression, anxiety, depression, and ADHD symptoms. The similarities of risk factors for weight between TD and ASD children will allow for use of existing protocols for weight interventions with minimal modification, saving resources otherwise spent pursuing new risk factors or treatments.     

粪菌移植治疗孤独症谱系障碍的研究进展

孤独症谱系障碍(autism spectrum disorder, ASD)是发病于儿童早期的神经发育障碍性疾病,目前尚无有效的治愈手段。其发病率近年来明显上升,给患者家庭和社会带来了沉重负担。ASD患者多存在胃肠道症状和肠道菌群失衡,研究发现ASD患者的胃肠道功能障碍与肠道菌群结构变化密切相关,且通过粪菌移植可显著改善ASD相关症状。本文通过总结粪菌移植治疗ASD的最新研究进展,以期为ASD的治疗提供新思路。     

Communication Skills in Children with Cerebral Palsy and Autism Spectrum Disorder

While the literature focusing on communication deficits in children with cerebral palsy (CP) is extensive, few researchers have analyzed this construct in individuals with CP and a comorbid Autism Spectrum Disorder (ASD). Therefore, the purpose of the current study was to examine impairments in communication in infants and toddlers (18 to 35 months of age) who had CP and comorbid autism, CP and comorbid pervasive developmental disorder-not otherwise specified (PDD-NOS), and CP alone. A total of 42 children met inclusion criteria for this study. Those diagnosed with CP and a comorbid ASD were found to possess significantly greater communication impairments as assessed by the Baby and Infant Screen for aUtIsm Traits-Part 1 (BISCUIT-Part 1) than participants who only had a diagnosis of CP. The autism and PDD-NOS groups did not significantly differ from one another on the communication domain of this measure, however. Implications of these results are discussed.     

2006年中国孤独症儿童相关残疾状况分析

目的了解中国儿童孤独症相关的残疾流行病学数据,为相关工作者提供参考。方法抽取2006年第二次全国残疾人抽样调查中0～17岁孤独症残疾儿童的资料进行数据分析。结果 2006年中国0～17岁儿童中孤独症残疾率为0.212‰,男童孤独症残疾率(0.282‰)显著高于女童(0.132‰)(χ2=16.119,P=0.000),低年龄组儿童孤独症残疾率显著高于高年龄组(Linear-by-Linear As-sociation=30.101,P=0.000),城乡儿童孤独症残疾率无显著性差异(χ2=0.093,P=0.760);孤独症儿童残疾程度排列依次为:重度(32.8%),极重度(26.0%),轻度(22.1%),中度(19.1%);孤独症残疾儿童中接受过康复训练与服务的占73.3%,未接受过的占26.7%。结论孤独症残疾儿童是个较大群体,他们的康复、教育问题,特别是成年后的养护问题等都亟待社会的关注。     

针刺治疗孤独症谱系障碍儿童便秘的效果

目的 观察针刺对孤独症谱系障碍(ASD)儿童便秘问题及核心症状的治疗效果。方法 2019年1月至2020年11月,黑龙江中医药大学附属第二医院康复中心收治50例ASD并发便秘患儿,随机分为针康组(n = 25)和药康组(n = 25)。针康组采用头针、体针结合康复训练法;药康组采用口服益生菌结合康复训练法;两组均进行便秘和核心症状的康复训练。便秘治疗8周,核心症状治疗12周。治疗前,治疗8周、12周后进行便秘疗效判定和便秘主症评分,并采用孤独症儿童行为量表(ABC)和孤独症治疗评估表(ATEC)对核心症状进行评估。结果 治疗前两组便秘主症评分、ABC评分和ATEC总分比较均无显著性差异(P > 0.05)。治疗8周,两组主症评分均显著降低(t > 5.473, P < 0.001);治疗12周,针康组便秘疗效和主症评分均优于药康组(Z = 2.848, t = -2.139, P < 0.05)。治疗8周后,两组ABC评分和ATEC总分均较治疗前显著降低(t > 7.139, P < 0.001),两组间比较均无显著性差异(P > 0.05);针康组ATEC行为评分明显降低(t = 3.849, P < 0.01),优于药康组(t = -2.643, P < 0.05),两组间其他项评分无显著性差异(P > 0.05);治疗12周,针康组ABC评分、ATEC总分及各项评分均低于药康组(|t| > 2.156, P < 0.05)。结论 针刺结合康复训练法可改善ASD儿童便秘问题,疗效较持久,也可改善孤独症的核心症状,均优于药物结合康复训练法。     

Teaching Basketball Shooting Skills to Children with Autism Spectrum Disorder

There are few published procedures for teaching athletic skills to children with autism spectrum disorder (ASD). This study used a multiple baseline across participants design to evaluate the effects of prompting, demand fading, and differential reinforcement, on the basketball shooting skills of four school-aged boys diagnosed with ASD. During baseline, all four boys rarely made correct and accurate baskets at the regulation height and distance for their age-group in youth basketball. Following intervention, all four boys increased their percentage of correct shots and accuracy, compared to baseline, and their shooting skills transferred to the game of “P-I-G” with peers.

     

Visual Attention and Key Word Sign in Children with Autism Spectrum Disorder

The aim of this study was to examine the relationship between children’s visual attention to, and acquisition of, Key Word Sign (KWS). Our hypothesis was that children’s visual attention to the clinician’s modelling would be associated with their acquisition and production of KWS. A multiple baseline single case experimental design with additional exploratory analyses was used to examine the effect of visual attention on sign acquisition among three preschool children with ASD. This paper extends from the previous intervention study (see Tan et al. 2014) by examining visual attention as a potential factor underpinning individual differences in sign acquisition documented in the initial study. All three children visually attended to the clinician’s modelling of KWS, and acquired signs to varying degrees following the introduction of KWS intervention. A weak, non-significant correlation was found between the children’s amount of visual attention and their production of signs. The results provide preliminary evidence for a lack of association between children’s amount of ‘looking’ and ‘doing’ during KWS intervention. Replication and examination of other factors impacting on KWS intervention outcomes is required.     

Toileting Problems in Children and Adolescents with Parent-Reported Diagnoses of Autism Spectrum Disorder

The current study investigated toileting problems in one hundred and twenty-seven children and adolescents with parent-reported diagnoses of autism spectrum disorder. Toileting refers to the accomplishment of various unprompted behaviors, including recognising the need to go to the toilet, and waiting before eliminating. The relationship between toileting problems and age, gender, intellectual disability, gastrointestinal symptoms, sleep problems, comorbid psychopathology, quality of life, and adaptive functioning were examined using parent-report questionnaires. The most common toileting problems were, “Does not independently perform most self-help tasks”, “Has toilet accidents during the day”, and “Parent/caregiver notices smears in underwear”. Gender, presence of intellectual disability, gastrointestinal symptoms, and comorbid psychopathology were significant predictors of toileting problems in this study. The gastrointestinal symptoms of constipation and bloating were found to be significant predictors of toileting difficulties. Specifically, constipation predicted accidents and physical problems associated with toileting, and bloating predicted social/emotional factors and physical problems. A small negative correlation was observed between total toileting problems and total health related quality of life. An increase in physical toileting difficulties was associated with lower quality of life.