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。     

孤独症谱系障碍患者的脑电相干性研究进展

孤独症谱系障碍（ASD）是一组病因不明的神经发育障碍性疾病。既往研究提示患者脑功 能连接的异常可能是ASD的病理基础。不同脑区之间的相互协作对大脑完成认知任务具有重要意义, 脑区电活动的相干性（coherence）被认为是这种协作的表现形式,可以作为评价大脑连通性的指标,在 ASD 患者神经心理机制方面具有广泛的应用前景。     

c-Jun氨基末端激酶在孤独症谱系障碍发病机制中的作用

目的检测孤独症谱系障碍(ASD)患儿的c-Jun氨基末端激酶(JNK)通路蛋白表达情况,探讨JNK在ASD发病机制中的作用。方法选择2016年6月至2017年6月于湖南省儿童医院确诊的30例ASD患儿作为ASD组,另选择30例健康儿童作为对照组。检测外周血单核淋巴细胞(PBMC)中总JNK(T-JNK)及磷酸化JNK(p-JNK)表达水平;采用儿童期孤独症评定量表(CARS)评定疾病严重程度,并对JNK活化水平与CARS评分进行相关性分析。利用基因重组腺体病毒载体转染原代神经元细胞,根据干预措施不同分为JNK过表达组和对照组,检测两组中总JNK、磷酸化的JNK/ATF-2/c-Jun、囊泡谷氨酸转运体(VGLUT)和囊泡型GABA转运体(VGAT)表达水平。结果 ASD组和对照组PBMC中T-JNK表达水平差异无统计学意义(P 0. 05),但ASD组p-JNK表达水平以及p-JNK/T-JNK比值显著高于对照组(P 0. 05)。采用单因素回归分析评估外周血p-JNK/T-JNK比值与CARS评分相关性,结果显示JNK活化程度与疾病严重程度不具有相关性(r=0. 03,P 0. 05)。腺病毒载体转染原代神经元细胞后,JNK过表达组中T-JNK、p-NK/ATF-2/c-Jun表达水平均显著高于对照组(P 0. 05); JNK过表达组中VGAT的表达水平均显著低于对照组(P 0. 05),VGLUT的表达水平与对照组比无明显差异(P 0. 05)。结论 JNK信号通路可能参与了ASD的发病,但与疾病严重程度无关。上调JNK表达水平能使转录因子ATF-2和c-Jun活化,下调突触囊泡转运体中VGAT表达。     

c-Jun氨基末端激酶在孤独症谱系障碍发病机制中的作用

目的 检测孤独症谱系障碍（ASD）患儿的c-Jun氨基末端激酶（JNK）通路蛋白表达情况,探讨JNK在ASD发病机制中的作用。方法 选择2016年6月至2017年6月于湖南省儿童医院确诊的30例ASD患儿作为ASD组,另选择30例健康儿童作为对照组。检测外周血单核淋巴细胞（PBMC）中总JNK（T-JNK）及磷酸化JNK（p-JNK）表达水平;采用儿童期孤独症评定量表（CARS）评定疾病严重程度,并对JNK活化水平与CARS评分进行相关性分析。利用基因重组腺体病毒载体转染原代神经元细胞,根据干预措施不同分为JNK过表达组和对照组,检测两组中总JNK、磷酸化的JNK/ATF-2/c-Jun、囊泡谷氨酸转运体（VGLUT）和囊泡型GABA转运体（VGAT）表达水平。结果 ASD组和对照组PBMC中T-JNK表达水平差异无统计学意义（P>0.05）,但ASD组p-JNK表达水平以及p-JNK/T-JNK比值显著高于对照组（P<0.05）。采用单因素回归分析评估外周血p-JNK/T-JNK比值与CARS评分相关性,结果显示JNK活化程度与疾病严重程度不具有相关性（r=0.03,P>0.05）。腺病毒载体转染原代神经元细胞后,JNK过表达组中T-JNK、p-NK/ATF-2/c-Jun表达水平均显著高于对照组（P<0.05）;JNK过表达组中VGAT的表达水平均显著低于对照组（P<0.05）,VGLUT的表达水平与对照组比无明显差异（P>0.05）。结论 JNK信号通路可能参与了ASD的发病,但与疾病严重程度无关。上调JNK表达水平能使转录因子ATF-2和c-Jun活化,下调突触囊泡转运体中VGAT表达。     

孤独症谱系障碍疼痛敏感程度及机制的研究进展

孤独症谱系障碍(autism spectrum disorders,ASD)是一种起始于婴幼儿时期的神经发育障碍性疾病,除社会交往障碍、认知缺失、重复刻板行为等核心症状外,还存在明显的多感官异常,其中ASD患者疼痛异常会做出重复性的自我伤害行为,这种障碍不仅给患者也对其家庭造成了较为严重的伤害,引起家庭和社会的广泛关注...     

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。     

微小RNA与孤独症谱系障碍研究进展

孤独症谱系障碍（ASD）是一组严重的高异质性神经发育障碍,是遗传因素和复杂环境因 素共同作用的结果,病理学机制还不清楚。大量的研究提示表观遗传学机制尤其是特殊脑区的miRNA 表达异常可能参与了ASD 的发生发展,循环miRNA 有望成为早期诊断的生物学标志物。     

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.     

眼动跟踪技术在孤独症谱系障碍诊治中的应用

在过去的几十年中,大规模观察性研究中收集的临床和神经影像资料的稳步增加使得人 们能够更充分地了解孤独症谱系障碍（ASD）群体社交眼神接触的特异性,探索了具体的视觉加工认知 过程。此外,这些大规模数据支持了ASD辅助诊断、疗效判断和个性化治疗设施的开发和更广泛的应用, 这对于改善ASD 预期临床进展和预后具有很大的帮助,并为开发个性化精准治疗方法提供了重要方向。 现对眼动跟踪技术在ASD 诊治中的应用进行综述。     

Face recognition in patients with autism spectrum disorders

The present study aimed to review previous research conducted on face recognition in patients with autism spectrum disorders (ASD). Face recognition is a key question in the ASD research field because it can provide clues for elucidating the neural substrates responsible for the social impairment of these patients. Historically, behavioral studies have reported low performance and/or unique strategies of face recognition among ASD patients. However, the performance and strategy of ASD patients is comparable to those of the control group, depending on the experimental situation or developmental stage, suggesting that face recognition of ASD patients is not entirely impaired. Recent brain function studies, including event-related potential and functional magnetic resonance imaging studies, have investigated the cognitive process of face recognition in ASD patients, and revealed impaired function in the brain's neural network comprising the fusiform gyrus and amygdala. This impaired function is potentially involved in the diminished preference for faces, and in the atypical development of face recognition, eliciting symptoms of unstable behavioral characteristics in these patients. Additionally, face recognition in ASD patients is examined from a different perspective, namely self-face recognition, and facial emotion recognition. While the former topic is intimately linked to basic social abilities such as self-other discrimination, the latter is closely associated with mentalizing. Further research on face recognition in ASD patients should investigate the connection between behavioral and neurological specifics in these patients, by considering developmental changes and the spectrum clinical condition of ASD.     

Subthreshold autism spectrum disorder in patients with eating disorders

AimIncreasingly data suggest a possible overlap between psychopathological manifestations of eating disorders (EDs) and autism spectrum disorders (ASD). The aim of the present study was to assess the presence of subthreshold autism spectrum symptoms, by means of a recently validated instrument, in a sample of participants with EDs, particularly comparing participants with or without binge eating behaviours.Methods138 participants meeting DSM-5 criteria for EDs and 160 healthy control participants (HCs), were recruited at 3 Italian University Departments of Psychiatry and assessed by the SCID-5, the Adult Autism Subthreshold Spectrum (AdAS Spectrum) and the Eating Disorders Inventory, version 2 (EDI-2). ED participants included: 46 with restrictive anorexia (AN-R); 24 with binge-purging type of Anorexia Nervosa (AN-BP); 34 with Bulimia Nervosa (BN) and 34 with Binge Eating Disorder (BED). The sample was split in two groups: participants with binge eating behaviours (BEB), in which were included participants with AN-BP, BN and BED, and participants with restrictive behaviours (AN-R).Resultsparticipants with EDs showed significantly higher AdAS Spectrum total scores than HCs. Moreover, EDs participants showed significantly higher scores on all AdAS Spectrum domains with the exception of Non verbal communication and Hyper-Hypo reactivity to sensory input for AN-BP participants, and Childhood/Adolescence domain for AN-BP and BED participants. Participants with AN-R scored significantly higher than participants with BEB on the AdAS Spectrum total score, and on the Inflexibility and adherence to routine and Restricted interest/rumination AdAS Spectrum domain scores. Significant correlations emerged between the Interpersonal distrust EDI-2 sub-scale and the Non verbal communication and the Restricted interest and rumination AdAS Spectrum domains; as well as between the Social insecurity EDI-2 sub-scale and the Inflexibility and adherence to routine and Restricted interest and rumination domains in participants with EDs.ConclusionsOur data corroborate the presence of higher subthreshold autism spectrum symptoms among ED participants with respect to HCs, with particularly higher levels among restrictive participants. Relevant correlations between subthreshold autism spectrum symptoms and EDI-2 Subscale also emerged.     

Low prevalence of smoking in patients with autism spectrum disorders

Psychiatric patients are significantly more often smokers than the general population, the only known exception being obsessive-compulsive disorder (OCD) and catatonic schizophrenia. We have investigated nicotine use in subjects with autism spectrum disorders (ASD). Ninety-five subjects (25 females and 70 males) consecutively diagnosed with any ASD and of normal intelligence were included in the study. Only 12.6% were smokers, compared with 19% in the general population and 47% in a control group of 161 outpatients diagnosed with schizophrenia or a schizophreniform disorder. The results suggest that smoking is rare among subjects with ASD, while the opposite was shown for schizophrenia. If replicated, this finding could suggest biological differences between non-catatonic schizophrenia and ASD, and support the theory of a biological link between ASD and a subtype of OCD, and between ASD and catatonic schizophrenia.     

Macrocephaly in children with autism spectrum disorders

Research indicates the presence of macrocephaly or abnormally large head circumferences in children with autism and spectrum-related disorders, compared with their typically developing peers. Previous research, however, centered on non-nationally representative, clinic-based samples of children and adults with autism spectrum disorders. Moreover, these samples were typically small. The present study represents results of a nationally representative, community-based sample of children with and without autism spectrum disorders, derived from the Early Childhood Longitudinal Study Birth Cohort. Results reveal statistically nonsignificant differences in the head circumferences of children with autism spectrum disorders across three time points, compared with children without autism spectrum disorders. These results may be considered highly generalizable, because they are derived from a nationally representative, community-based sample of children with and without autism spectrum disorders from the Early Childhood Longitudinal Study Birth Cohort.     

Sleep in children with autism spectrum disorders

The amount of research conducted on sleep in children and adolescents has increased dramatically over the past decade due to the recognition that many children have significant sleep problems leading to daytime dysfunction. Approximately one third of typically developing children have sleep difficulties at some point, and a similar percentage of adolescents have impaired or insufficient sleep leading to daytime impairments. Sleep problems are known to occur at even greater rates in children with special needs, such as those with developmental disabilities, psychiatric conditions, and medical illnesses. The recognition that interventions can improve sleep and may result in better daytime functioning has fueled a growing interest in more fully characterizing the sleep problems in children with special needs. This article presents a discussion of the sleep problems experienced by children with one particular group of developmental disorders—the autism spectrum disorders.     

Obesity in adolescents with autism spectrum disorders

Adolescents with developmental disabilities such as autism spectrum disorder (ASD) may be particularly vulnerable to obesity due to the behavioral, physical, and psychosocial complications related to their condition. This article provides a general background related to obesity in adolescence with specific emphasis on obesity in the ASD population. A search of PubMed, CINAHL, and ProQuest databases revealed several studies which demonstrated that interventions involving physical activity with typically developing, obese adolescents can have positive effects on body mass index, weight, and body composition. However, these findings also suggest that more research is needed to help tailor these interventions to meet the needs of similar adolescents with ASD. To clarify these needs, we present a case study that illustrates the special challenges of treating an obese adolescent with ASD and then offer suggestions for future research.     

Neurofeedback in autism spectrum disorders

Aim  To review current studies on the effectiveness of neurofeedback as a method of treatment of the core symptoms of autism spectrum disorders (ASD). Method  Studies were selected based on searches in PubMed, Ovid MEDLINE, EMBASE, ERIC, and CINAHL using combinations of the following keywords: ‘Neurofeedback’ OR ‘EEG Biofeedback’ OR ‘Neurotherapy’ OR ‘Mu‐Rhythm’ OR ‘SMR’ AND ‘Autism’ OR ‘Autism Spectrum Disorder’ OR ‘Pervasive Developmental Disorder’. Results  The existing evidence does not support the use of neurofeedback in the treatment of ASD. Studies with outcomes in favour of neurofeedback might be showing an improvement in comorbid attention‐deficit–hyperactivity disorder symptoms rather than a true improvement in core ASD symptoms. Interpretation  Limitations of this review are those inherent in the studies available, including small sample size, short duration, variable diagnostic criteria, and insufficient control interventions, all causing a lack of generalizability.     

Epilepsy in autism spectrum disorders

Epilepsy is quite common in autism spectrum disorders, and it is increasingly recognized as an additional clinical problem that must be dealt with. The rate of comorbidity varies, depending upon the age and type of disorder, and currently the conservative estimate of comorbidity cases is 20–25% of the whole spectrum. Major risk factors for seizure occurrence are mental retardation and additional neurological disorders, as well as some specific associated medical conditions. Autism with regression has been reported in one-third of children with previously normal or nearly normal development. In an unknown proportion of these subjects, epileptic disorders are concomitant, leading to so-called autistic epileptiform regression. Furthermore, epileptiform abnormalities without seizures are frequent in this population and their role in the development of the nuclear disturbances of autism is controversial. The therapeutic approaches to epilepsy in autism are conventional treatments, yet when seizures are not evident, there is still controversy. Anticonvulsant medications could also potentially interfere with mood and behavioral disturbances frequently observed in ASD. The current understanding of the association between epilepsy and autism is still limited, but from a clinical point of view this association should not be overlooked, and it should be routinely investigated.