孤独症谱系障碍与食物过敏关系的研究进展

过去几十年里, 孤独症谱系障碍和食物过敏的发病率呈上升趋势, 均已成为全球性的公共卫生问题。孤独症谱系障碍是一种复杂的神经发育障碍性疾病, 常共患胃肠道问题。其确切病因及发病机制尚不清楚, 免疫功能障碍已被证明是与孤独症谱系障碍相关的一个因素, 而食物过敏作为一种免疫介导的疾病, 常引起胃肠道症状, 有研究报道食物过敏可能与孤独症谱系障碍存在联系。现就食物过敏与孤独症谱系障碍的关系进行综述, 希望为孤独症谱系障碍病因学的研究及治疗提供信息。     

可导致孤独症谱系障碍的肉碱缺乏症

孤独症谱系障碍是一组神经发育障碍性疾病, 导致社交障碍、 交流困难及行为异常, 病因复杂, 已知多种遗传和非遗传因素可导致多种类型的孤独症表现。左旋肉碱（左卡尼汀）是一种水溶性维生素亚类, 结构类似氨基酸, 参与多种物质代谢, 主要功能是将长链脂肪酸从胞浆转移到线粒体内质网进行β-氧化代谢。肉碱缺乏症可导致孤独症谱系障碍等精神行为异常, 一些患者发生心脏、 骨骼肌、 脑、 肝脏等多器官损伤, 严重者猝死。正常情况下, 机体通过饮食摄入、 内源合成、 肾脏排泄与重吸收来保证左卡尼汀的稳态。肉碱在机体的内源性合成通过线粒体内四步酶促反应完成, 三甲基赖氨酸羟化酶是肉碱合成中的一个关键酶。三甲基赖氨酸羟化酶缺乏症是一种X连锁遗传病, 引起肉碱合成障碍, 是导致孤独症谱系障碍病因之一。早期诊断, 早期补充左卡尼汀, 是改善三甲基赖氨酸羟化酶缺乏症所致孤独症患者预后的关键。     

孤独症谱系障碍的研究进展

孤独症谱系障碍是一组并不少见的以社会交往障碍、交流障碍和狭隘重复性行为为特征的疾病,在过去的十年,孤独症的流行病学、病因、早期诊断、早期干预和预后等领域取得了诸多重要进展,文章对此作一阐述.     

孤独症谱系障碍儿童及其家庭成员生活质量研究现状

孤独症谱系障碍以言语发育缺损、社会交往缺损、重复刻板行为、狭隘兴趣活动为特征.目前公认患病率为1％.因患病率高、致残率高、看护者经济压力大,给个人和家庭带来巨大挑战.现对国内外孤独症谱系障碍儿童及其家庭成员的生活质量研究作一综述,以使更多学者关注孤独症谱系障碍特殊群体.     

儿童孤独症谱系障碍饮食行为异常的研究进展

孤独症谱系障碍患儿往往伴有饮食行为的异常,对此进行的实验也包含多种混杂因素的干扰,因其发生机制不明,临床表现呈多样化,治疗这种异常饮食行为的疗效也不尽相同.该文就近年来孤独症谱系障碍儿童饮食异常的相关研究作一综述.     

维生素D在孤独症谱系障碍中的作用研究进展

孤独症谱系障碍(ASD)目前病因和发病机制尚不清楚。近年来的研究发现ASD患儿普遍存在维生素D的缺乏,维生素D与ASD的关系逐渐引起人们的关注。该文对ASD患儿外周血维生素D水平的检测结果、维生素D水平低下的可能原因及其与ASD病因的可能关系、补充维生素D对ASD的疗效等研究进展作一综述。     

基于亚低温床垫与高压氧舱结合的新生儿智能调控系统——一种发明专利的介绍

儿童神经发育障碍（neurodevelopmental disorders, NDDs）是由多种遗传性或获得性病因导致的一组慢性发育性脑功能障碍疾病,主要包括智力发育障碍、发育性言语或语言障碍、孤独症谱系障碍、发育性学习障碍、注意缺陷多动障碍、抽动障碍和其他神经发育障碍等。随着NDDs研究水平和诊治技术的提高,儿童NDDs研究取得了很大进步。为进一步提高儿科医生对儿童NDDs认识的广度和深度,该文就儿童NDDs研究进展作一综述。     

倒退型孤独症研究进展

<正>孤独症谱系障碍(autism spectrum disorder,ASD)是一种起病于儿童早期的神经发育障碍,是广泛意义上的孤独症,临床特征主要表现为社会/交流障碍和刻板重复的兴趣行为方面的异常。通常在婴幼儿时期逐渐表现出相应的症状,但一般2岁时因症状明显才被发现而就诊治疗,其病因和发病机制尚不明确。从起病形式看,ASD患者中存在倒退型起病与非倒退型起病两种模式。有大量证据表明,倒退型孤独症比非倒退型的孤独症状更加严重[1-3]。其中关于倒退型ASD的研究报道不少,但随着孤独症发病率的不断递增,     

RARα调控稳态突触可塑性在孤独症谱系障碍发病机制中的研究进展

孤独症谱系障碍是儿童神经精神发育性疾病领域亟需解决的重要疾病, 发病率逐年增高, 给家庭和社会带来了沉重负担。不同单基因突变模型的功能研究表明稳态突触可塑性受损是导致这些重叠表型的共同机制。视黄酸受体α(retinoic acid receptor α, RARα)通过谷氨酸受体亚基1翻译控制和RARα/ mTOR信号传导途径双向调控神经系统稳态突触可塑性, 影响感觉信息整合和情境适应能力, 同时通过树突棘生长影响学习记忆功能和神经突触信号网络。这些研究进展提示RARα可能作为调节稳态突触可塑性和改善孤独症谱系障碍症状的潜在药物靶点, 有助于临床上对孤独症谱系障碍进行临床分子分型和精准诊治工作。     

孤独症谱系障碍合并紧张症研究进展

对孤独症谱系障碍(ASD)合并紧张症的流行病学、病因与机制、临床特征、评估、诊断、鉴别诊断及治疗方面的研究进展进行综述,以提高临床医生对ASD合并紧张症的认识,从而早期识别紧张症样恶化的表现,早期治疗改善患儿的预后。     

孤独症谱系障碍的共患病与药物治疗

孤独症谱系障碍(autism spectrum disorder, ASD是一组多因素导致的大脑发育障碍性疾病,目前尚无特效药物,以行为干预为主。ASD的共患病在ASD儿童中极为常见,共患病的存在对ASD的治疗和预后有着重要影响。近年来,ASD的病因研究及行为干预已成为国内外研究热点,但其共患病及药物干预的研究较少,为此,笔者就国内外相关文献加以概述,希望对临床ASD共患病及药物治疗研究有所帮助。     

孤独症谱系障碍中免疫异常的研究进展

孤独症谱系障碍(ASD)是一组以社会交往和交流障碍、兴趣狭窄和重复刻板性行为为主要特征的神经发育障碍性疾病.其发病原因尚不明确.目前许多研究发现ASD患儿免疫功能异常.该文综述了ASD的免疫学异常研究进展,包括免疫细胞、抗体蛋白、补体、细胞因子、主要组织相容性复合体的异常及他们与ASD之间的潜在关系,同时阐述了母体免疫激活等与ASD发病相关的免疫学影响.     

Moving From Research to Practice in the Primary Care of Children With Autism Spectrum Disorders

Autism spectrum disorders (ASD), once thought rare, are now commonly encountered in clinical practice. Academic pediatricians may be expected to teach medical students and pediatric residents about ASD, but most likely received limited exposure to ASD during their training. In recent years, research that informs the clinical guidance provided to pediatricians regarding surveillance, screening, and ongoing management of children with ASD has accelerated. By 24 months of age, children with ASD exhibit delays across multiple domains of development, yet the diagnosis is frequently made much later. Careful developmental surveillance lowers the age of identification of children with ASD. Several screening tools appropriate for use in primary care settings can aid in early identification. Improved surveillance and screening is of benefit because early intensive behavioral intervention has the potential to improve the developmental trajectory of children with ASD. Providing appropriate medical care for children with ASD improves both child and family outcomes. Recent research regarding sleep disturbances, gastrointestinal problems, and epilepsy in children with ASD has led to clinical pathways to evaluate and address these issues within the context of primary care. By being aware of and disseminating these research findings, academic pediatricians can help future and current clinicians improve the care of children with ASD.     

孤独症谱系障碍易感基因相关研究进展

孤独症谱系障碍(ASD)是神经发育过程中的一种发育障碍性疾病,是多个易感基因参与发病的多基因疾病。目前已报道的易感基因有100 多个,相关研究包括易感基因的染色体位点研究、易感基因筛查研究和易感基因的表观遗传学异常。已报道的易感基因编码的蛋白质有:神经细胞粘着分子;离子通道蛋白;支架蛋白;蛋白激酶、受体、载体;信号通路调控蛋白以及昼夜节律相关蛋白。易感基因突变和表达调控机制的研究进展有助了解ASD 的遗传参与的发病机制,可望能给ASD 的诊断和治疗提供新的思路。该文对ASD 易感基因方面的研究现状进行了综述。     

A population‐based investigation of behavioural and emotional problems and maternal mental health: associations with autism spectrum disorder and intellectual disability

Background: While research indicates elevated behavioural and emotional problems in children with autism spectrum disorders (ASD) and decreased well‐being in their parents, studies do not typically separate out the contribution of ASD from that of associated intellectual disabilities (ID). We investigated child behavioural and emotional problems, and maternal mental health, among cases with and without ASD and ID in a large population‐representative sample. Methods: Cross‐sectional comparison of child behavioural and emotional problems and maternal mental health measures among 18,415 children (5 to 16 years old), of whom 47 had an ASD, 51 combined ASD with ID, 590 had only ID, and the remainder were the comparison group with no ASD or ID. Results: The prevalence of likely clinical levels of behavioural and emotional problems was highest among children with ASD (with and without ID). After controlling for age, gender, adversity, and maternal mental health, the presence of ASD and ID significantly and independently increased the odds for hyperactivity symptoms, conduct, and emotional problems. Emotional disorder was more prevalent in mothers of children with ASD (with or without ID). The presence of ASD, but not ID, significantly increased the odds for maternal emotional disorder. As has been found in previous research, positive maternal mental health was not affected by the presence of ASD or ID. Conclusions: ASD and ID are independent risk factors for behavioural and emotional problems. ASD (but not ID) is positively associated with maternal emotional disorder. Approaches to diagnosing hyperactivity and conduct problems in children with ASD may need to be reconsidered.     

Autism spectrum disorders: clinical and research frontiers

Autism spectrum disorders (ASD) are common neurodevelopmental disorders that occur along a broad continuum of severity with impairments in social interactions, communication and behaviour. This review highlights recent advances in autism research that shed light on the causes of the disorder and that have implications for clinical practice. It focuses on (1) the rising prevalence of ASD with attention given to recent epidemiological studies, (2) important genetic discoveries that may affect clinical evaluation of children with ASD, (3) active areas of research in cognitive neuroscience that seek to explain the underlying mechanisms of a complex disorder and (4) important studies on clinical populations with implications for screening and early identification of infants and toddlers with ASD.     

儿童孤独症谱系障碍的治疗研究进展

孤独症谱系障碍(ASD)为一类广泛性神经系统发育障碍,以社会交往及交流障碍、兴趣狭窄、刻板与重复行为为主要特点。目前ASD的发病率呈显著上升趋势,早期合理的个性化综合干预治疗可明显改善患儿预后。由于ASD的病因不明,目前尚无特效药,主要以行为与教育干预为主;对ASD的伴发症状,如易激惹、自伤行为、注意缺陷多动障碍、睡眠问题等,合理应用一些药物,可改善ASD患儿的行为干预效果。随着ASD发病机制的深入研究,布美他尼、催产素、维生素D及高压氧治疗,可有望改善ASD核心症状。该文对目前针对ASD的行为与发展干预及治疗方法进行了综述。     

Counseling parents regarding prognosis in autistic spectrum disorder

A triaxial model for autistic spectrum disorder (ASD) is presented, incorporating age, degree of intelligence, and severity of autistic features. As the name implies, ASD can vary in degree of expression from minimal to profound. Furthermore, the symptoms of ASD change in predictable ways with the passage of time. For example, echolalia during early childhood may be replaced by verbal literalism and difficulty with verbal humor during later childhood or adolescence. The prognosis for children with ASD is governed by the joint impact of the degree of expression of ASD and the degree of developmental delay, if any. All combinations of ASD and intellect are possible (ie, severe ASD plus severe mental retardation, severe ASD plus normal general intelligence, and so forth). The relationship among these 3 parameters-severity of ASD, level of general intelligence, and change in symptom expression over time, is represented schematically as a 3-dimensional graph. The utility of this graph as a counseling tool, and as the basis for future research on the prognosis of ASD are discussed.     

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??Autism spectrum disorder??ASD?? is an innate neurobehavioral development disorder??which leads to the occurrence of major symptoms. Neuropsychological study of nearly half a century is part of the basis of abnormal development of ASD brain??which constructs some influencing theories??and also becomes a part of the basis of defining ASD and cognitive rehabilitation treatment at present. The research results are represented by abnormal the expression and emotion recognition??psychological theory defect??common attention or gaze abnormalities??inhibitory control defect??the social motivation defect??imaging findings??and mirror neuron abnormalities. The related research is still fragmented with some limitations??even contradictory??so it still needs time to reveal the cause of ASD.     

Influence of reporting effects on the association between maternal depression and child autism spectrum disorder behaviors

Background: Maximizing measurement accuracy is an important aim in child development assessment and research. Parents are essential informants in the diagnostic process, and past research suggests that certain parental characteristics may influence how they report information about their children. This has not been studied in autism spectrum disorders (ASD) to date. We aimed, therefore, to investigate the possible effect that maternal depression might have on a mother’s reports of her child’s ASD behaviors. Using structural equation modeling, we disaggregated shared from unique variation in the association between latent variable measures of maternal depression and ASD behaviors. Methods: Data were obtained from a study of preschoolers aged 2–4 newly diagnosed with ASD (n = 214). Information from a parent questionnaire, a semi‐structured parent interview, and a semi‐structured observational assessment was used to develop a latent variable measure of child ASD behaviors. Mothers reported on their own depression symptoms. We first modeled the covariance between maternal depression and child ASD behavior. Then, to quantify unique variation, we added covariance terms between maternal depression and the residual variation associated with the individual measures of child ASD behaviors. Results: The model demonstrated excellent fit to the underlying data. Maternal self‐report of depression symptoms exhibited a significant association with the unique variance of the questionnaire report but not with the latent variable measure of child ASD behavior. A gradient pattern of association was demonstrated between maternal depression and the unique variance of the ASD measures: most strongly for the maternal questionnaire report, more weakly for the maternal semi‐structured interview, and to a trivial extent for the observational interview. Conclusions: Parental depression may influence reporting of ASD behaviors in preschoolers. Shared method effects may also contribute to bias. This finding highlights the importance of obtaining multimethod reports of child ASD symptoms.