孤独症谱系障碍药物治疗研究进展

对孤独症谱系障碍的药物治疗研究进展进行综述。     

孤独症谱系障碍早期症状研究进展

本文综述了孤独症谱系障碍早期症状的近年研究进展.总结了孤独症谱系障碍早期症状的出现时间及其特点,而且重点介绍了具有代表性的研究方法和结果,为孤独症谱系障碍的早期诊断和干预提供了指导性依据.     

孤独症谱系障碍儿童语言/言语情况分析

正孤独症谱系障碍(ASD)是以社会交往和沟通模式质的损害,局限、重复刻板的兴趣和行为为临床特征[1];言语障碍为三大核心症状之一。本研究对ASD儿童语言/言语情况进行分析。1对象和方法选取2018年7月至2018年11月期间北京大学第六医院专家门诊确诊为ASD患儿83例,男72例,女11例;年龄29～72个月,平均48个月。由主要照顾者填写自拟"ASD语言/言语调查问卷",该问卷表参照2017年ASD儿童早期识别筛查和早期干预专家共识[2],并结合孤独症儿童行为量表(ABC)言语因子项目及儿童沟通量表(CCC-2);总计     

孤独症及其谱系障碍生物学病因模式研究新进展

本文综述了孤独症生物学病因模式的最新研究进展。其中包括孤独症及谱系障碍的化学中毒模式;重金属中毒理论模式;自身免疫性模式;免疫学理论模式;病毒感染学说;孤独症谱系障碍可能的病理生理学机制。     

孤独症谱系障碍儿童眼动研究进展

孤独症谱系障碍(ASD)是一组以社交障碍为主的神经发育性疾病,患病率呈逐年增加的趋势,且未见特效疗法,为此早诊断、早干预尤为重要.近些年,通过眼动技术研究,发现ASD在生命早期便存在异常的注视模式,有望将此作为ASD早期检测和诊断的生物标志物.现从ASD儿童异常的眼动模式、研究范式、大脑相关区域的联系及面孔加工四个方面,对ASD儿童运用眼动技术的研究文献进行梳理总结,阐述最新研究成果.     

孤独症患者染色体亚端粒的荧光原位杂交研究

目的 探讨染色体亚端粒重组在孤独症病因学中的意义。方法 对28例孤独症患儿在常规染色体分析的基础上，选用ToTelVysion^TM DNA探针进行染色体亚端粒荧光原位杂交(FISH)分析，对重组改变者选用另一亚端粒特异性探针以证实诊断，并用同一探针对父母样本进行FISH分析。结果 在28例中，常规染色体分析，27例染色体核型正常，1例(例1)核型为46，XY，嵌合t(1；11)(q23；q24)；FISH亚端粒DNA探针检测，26例为正常信号模式，例1可见易位后的11q信号，另1例(例2)核型为46，XY，del(2)(q37)。例2患儿父母的常规染色体分析和FISH亚端粒分析均未见异常。结论 染色体亚端粒重组可能见于一定比例的孤独症病例，2q37区域可能有1个或多个孤独症的关键基因。     

微量元素硒与儿童孤独症谱系障碍关联的Meta分析

目的 探究微量元素硒与儿童孤独症谱系障碍的关系.方法 检索PubMed、Embase、Cochrane Library、Web of Science、维普数据库、万方数据知识服务平台、中国知网及中国生物医学文献数据库,检索时限为建库至2021年10月,全面收集硒与儿童孤独症谱系障碍关系的研究,采用纽卡斯尔-渥太华量表(...     

孤独症谱系障碍患者抑郁状况综述

抑郁障碍是孤独症谱系障碍患者常见的致残共病之一,影响其各方面的功能水平和社会化发展,严重的会引起自伤自杀等行为。由于缺乏有效的研究工具针对孤独症谱系障碍患者（ASD）抑郁情况的筛查和评估,患病率的估计存在较大差异。共病的风险因素似乎在很大程度上与一般人群有重叠,但影响高于一般人群,包括遗传/神经生物学方面、个人特征和外部因素等。目前的干预方法仍有较大局限,对患者自身认知水平也有一定的要求。未来需涉及评估工具、作用机制及干预方式这几方面的研究,以期为患者提供一种从早期发现到有效干预的医疗集聚策略。     

染色体16三体人胚胎干细胞系的建立

背景：研究显示部分人胚胎干细胞系在建系或体外培养过程中出现染色体异常的现象,建立染色体异常的人胚胎干细胞系,可分析染色体对人胚胎干细胞特性的影响。 目的：拟建立染色体异常的人胚胎干细胞系。 设计、时间及地点：细胞学体内外观察,于2006-10/2008-02在南京大学医学院附属鼓楼医院生殖医学中心完成。 材料：冷冻人胚胎由南京大学医学院附属鼓楼医院生殖医学中心提供,4周龄NOD-scid鼠1只及ICR胎鼠成纤维细胞由南京大学医学院附属鼓楼医院实验动物中心提供。 方法：将人冷冻胚胎解冻后,置于囊胚培养基中微滴培养,胚胎发育至扩张囊胚期时分离囊胚中的内细胞团,以ICR胎鼠成纤维细胞作为饲养层,机械法传代,建立的人胚胎干细胞系命名为NJGLChES2。 主要观察指标：对10代以后的细胞进行核型分析,选择核型异常的人胚胎干细胞系鉴定其碱性磷酸酶和特异性标记物的表达,通过体外类胚体形成实验及体内畸胎瘤成瘤实验观察其分化能力。 结果：NJGLChES2人胚胎干细胞系核型分析结果呈16号染色体三体（47,XX,+16）,呈人胚胎干细胞克隆样生长,碱性磷酸酶和胚胎特异性标记物OCT-4,SSEA-3,SSEA-4,TRA-1-60,TRA-1-81的表达均为阳性。体外悬浮培养的NJGLChES2人胚胎干细胞可形成囊状拟胚体,体内接种至NOD-scid鼠腹股沟皮下后在接种部位可形成畸胎瘤,肿瘤组织含有来源于鳞状上皮、横纹肌和呼吸道黏膜上皮3个胚层的多种细胞类型。 结论：成功建立16号染色体三体人胚胎干细胞系NJGLChES2,可长期稳定增殖并保持未分化状态,且在体内外具有多向分化潜能。     

孤独症谱系障碍的相关遗传学机制研究进展

孤独症谱系障碍（ASD）是一组高异质性的神经发育性障碍，遗传因素对发病起了重要作 用，解释了 25%～35% 患儿的发病原因，但遗传学机制还不清楚。分子遗传学研究发现 ASD 存在常见 和罕见拷贝数或单核苷酸变异体，突变基因编码蛋白质影响早期大脑发育，干扰神经元间的连接、突触 形成以及功能，可能是其病理学机制。     

Epilepsy in autism spectrum disorder

The purpose of this review is to provide an overview of the research on epilepsy in autism spectrum disorder (ASD). Topics explored are the prevalence of epilepsy in ASD, the importance of studying epilepsy, as well as the questionnaire measures used to assess epilepsy side-effects. Research on the relationships between epilepsy and parental stress and psychological distress, developmental regression, language and communication, adaptive behavior, social skills, autism severity, challenging behavior, comorbid psychopathology, gastrointestinal symptoms, sleep problems, sensory issues and quality of life are also discussed. Finally, recommendations for treatment are given as well as areas where future research is needed.     

Shuffling babies and autism spectrum disorder

Background and purposeBottom shuffling is a locomotion strategy that precedes independent walking in some infants. Shuffling babies are generally considered to have favorable outcomes. The aim of the present study was to reveal clinical features and neurodevelopmental outcomes of shuffling babies who visited a child developmental center.MethodsWe studied 48 shuffling babies who visited Toyota Municipal Child Development Center from April 2007 to March 2015. We excluded patients with cerebral palsy, Down syndrome, or congenital disorders. In 2018, we retrospectively reviewed the clinical charts of the enrolled children. We investigated family history, neurological findings, and the developmental outcome during the follow-up period.ResultsDuring the follow-up period, 20 children (42%) were diagnosed with ASD. Gross motor development in infancy was not different between infants with and without ASD. The rate of poor eye contact at the first visit and a delay in the first word speech were significantly higher in infants with ASD than in infants without ASD. A family history of bottom shuffling was significantly less frequent in infants with ASD (10%) than in those without (39%).ConclusionSome of bottom shufflers may represent ASD during follow-up. Paying attention to social and cognitive functions in shuffling babies is important.     

Emotion differentiation in autism spectrum disorder

Autism spectrum disorder (ASD) is commonly associated with reduced ability to recognize emotions in others. It is less clear however, whether ASD is also associated with impaired knowledge of one's own emotions. In the current study we present a first examination of how much knowledge individuals with ASD have about their emotions by investigating their ability to differentiate between emotions. Across two lab tasks that measured to what extent and how people differentiate between their own feeling states and semantic emotion terms, results showed that ASD individuals differentiated less than typically developing individuals. Yet, both groups of participants similarly categorized emotions according to previously established theoretical categories. These findings indicate that while both give similar meaning to emotions, individuals with ASD make less subtle distinctions between emotions. With low levels of emotion differentiation being linked to reduced well-being, these findings may help to better understand the high prevalence of internalizing problems associated with ASD.     

Genes associated with autism spectrum disorder

Autism spectrum disorder (ASD) is a heterogeneous grouping of neurodevelopmental disorders characterized by impairment in social interaction, verbal communication and repetitive/stereotypic behaviors. Much evidence suggests that ASD is multifactorial with a strong genetic basis, but the underlying mechanisms are far from clear. Recent advances in genetic technologies are beginning to shed light on possible etiologies of ASD. This review discusses current evidence for several widely studied candidate ASD genes, as well as various rare genes that supports their relationship to the etiology of ASD. The majority of the data are based on molecular, cytogenetic, linkage and association studies of autistic subjects, but newer methods, including whole-exome sequencing, are also beginning to make significant contributions to our understanding of autism.     

Event-based prospective memory performance in autism spectrum disorder

The purpose of the present study was to investigate event-based prospective memory performance in individuals with autism spectrum disorder and to explore possible relations between laboratory-based prospective memory performance and everyday performance. Nineteen children and adolescents with autism spectrum disorder and 19 matched neurotypical controls participated. The laboratory-based prospective memory test was embedded in a visuo-spatial working memory test and required participants to remember to respond to a cue-event. Everyday planning performance was assessed with proxy ratings. Although parents of the autism group rated their children's everyday performance as significantly poorer than controls' parents, no group differences were found in event-based prospective memory. Nevertheless, individual differences in laboratory-based and everyday performances were related. Clinical implications of these findings are discussed.     

Mental imagery scanning in autism spectrum disorder

Navigational impairments have previously been reported in autism spectrum disorder (ASD). The present study examined the ability of individuals with ASD to generate and scan their mental image of a previously viewed map. Twenty-one ASD adults and 20 age- and IQ-matched comparison adults memorised a map of a fictitious island containing a number of landmarks. They then mentally imagined the map and were timed as they imagined a character walking between the various landmarks. Consistent with previous mental imagery research with typical individuals, there was a linear relationship between the time that participants took to mentally scan between the landmarks and the actual distance between the landmarks on the picture, and this was the case for both typical and ASD participants. ASD and comparison participants’ mental image scanning times were both also influenced by misleading signposts in the picture that indicated different distances between landmarks, thus providing evidence that their mental images were penetrable by top-down information. Although ASD and comparison participants showed very similar mental imagery scanning performance, verbal IQ and working memory were significantly and positively associated with image scanning performance for the ASD, but not the comparison group. This finding furthers the notion of a compensatory reliance on different strategies in ASD to achieve similar surface performance to individuals from the general population. Findings have practical implications for supporting navigation strategies in ASD.     

Role of serum levels of neurotensin in children with autism spectrum disorder

AimNeuroinflammation may play a role in the pathogenesis of autism in some patients. The aim of this study was to measure serum levels of neurotensin (NTS) in relation to the degree of the severity of autism.MethodsSerum NTS was measured in autistic children (n = 38; mean age 7.02 ± 2.03 years) and healthy, unrelated sex matched controls (n = 39); mean age 7.25 ± 1.64 years). The severity of autism symptoms was assessed using Childhood Autism Rating Scale (CARS) scores.ResultsThe serum level of NTS was significantly (P < 0.001) lower in autistic children (mean ± S.D. = 54.71 ± 12.4 pg/ml) than control group (mean ± S.D. = 77.58 ± 10.29 pg/ml). Children with severe autism had significantly lower serum NTS levels than patients with mild to moderate autism (P < 0.002). There was significant negative correlation between serum levels of NTS and CARS SCORES (r² = 0.79, P = 0.001).ConclusionsSerum NTS levels were elevated in some autistic children and they were significantly correlated with the severity of autism. However, this is an initial report that warrants further research to determine the pathogenic role of NTS and its possible link to neuroinflammation in autism.     

Impaired representational gaze following in children with autism spectrum disorder

Using eye-tracking methodology, we compared spontaneous gaze following in young children with Autism Spectrum Disorder (mean age 5.8 years) to that of typically developing children (mean age 5.7 years). Participants saw videos in which the position of a hidden object was either perceptually visible or was only represented in another person’s mind. The findings indicate that children with Autism Spectrum Disorder were significantly less accurate in gaze following and observed the attended object for less time than typically developing children only in the Representational Condition. These results show that children with Autism Spectrum Disorder are responsive to gaze as a perceptual cue although they ignore its representational meaning.     

Placental trophoblast inclusions in autism spectrum disorder.

BACKGROUND: Microscopic examination of placental tissue may provide a route to assessing risk and understanding underlying biology of autism. METHODS: Occurrence of a distinctive microscopic placental morphological abnormality, the trophoblast inclusion, was assessed using archived placental tissue. The rate of occurrence of trophoblast inclusion-positive slides observed for 13 individuals with autism spectrum disorder (ASD) was compared to the rate in an anonymous consecutive birth cohort. RESULTS: The occurrence of inclusion positive slides was significantly greater in the ASD group compared to the control group (6/27 slides, 22.2% vs. 12/154, 7.8%; Fisher Exact Test, two-tailed p = .033; relative risk 2.85). The proportion of positive cases was also greater in the ASD group (5/13 cases, 38.5% vs. 8/61, 13.1%; Fisher Exact, two-tailed p = .044; relative risk 2.93). Behavioral severity scores did not differ across groups of inclusion positive (N = 4) and negative (N = 8) ASD individuals. CONCLUSIONS: Although probably not functionally detrimental or causative, the greater occurrence of placental trophoblast inclusions observed in ASD individuals may reflect altered early developmental processes. Further research is required to replicate the basic finding, to understand the basis for the trophoblastic abnormality, and to determine the utility of the measure in early detection of ASD.