自闭症患者大脑语言功能的异常偏侧化研究进展

自闭症谱系障碍(autismspectrumdisorders,ASD)是一种广泛发展障碍,以社会交往障碍、言语和非言语交流缺陷、兴趣狭窄和行为刻板等为主要临床特征.本文简述了自闭症的核心症状——语言障碍,回顾了自1986年以来,对自闭症语言障碍神经机制的研究,从其大脑结构、功能不对称性及相关利手因素的影响三个方面,综述了自闭症语言功能的异常偏侧化领域的研究成果和进展,期望为自闭症语言障碍的鉴别与治疗提供帮助,并促进汉语背景下自闭症患者的语言功能偏侧化研究.     

肠道微生态与自闭症研究进展

自闭症是一种弥漫性中枢神经系统发育障碍性疾病,目前缺少特效的治疗手段,给社会和家庭带来沉重的负担。许多自闭症患儿合并有消化系统症状,且与肠道微生态紊乱密切相关。给予肠道微生态干预后,自闭症患儿消化系统症状得到改善,同时沟通和社交能力也能得到提高,因此脑-肠-菌轴在自闭症的发生发展过程中可能起到重要作用。目前有许多动物和临床研究证实益生元、益生菌及粪菌移植等生物干预方法对自闭症治疗的安全性和有效性,但仍缺乏更高级别临床证据进一步证实其疗效。     

孤独症谱系障碍儿童早期神经发育水平和智能特征分析

目的:探讨孤独症谱系障碍(Autism spectrum disorder,ASD)儿童早期神经发育水平及智能分区特征,为提高ASD的早期识别和诊断提供理论依据。方法:运用Gesell发育评估量表对18月龄至48月龄以内的27例ASD患儿和30例发育迟缓(Mental retardation, MR)患儿的发育商(Development quotient,DQ)进行测评,比较两组患儿的年龄、性别、平均DQ和各能区DQ。结果:两组患儿的年龄和性别未见明显差异(P>0.05),ASD患儿平均DQ落后于MR患儿(P<0.05),ASD患儿的语言和个人-社交明显落后于MR患儿(P<0.05),ASD患儿的语言和个人-社交明显落后于大运动、精细动作(P<0.05),语言明显落后于个人-社交和适应性(P<0.05),MR患儿的各能区未见明显差异(P>0.05)。结论:ASD患儿智能特征表现为整体发育水平落后且显著不平衡,以语言和个人-社交落后最明显。     

婴儿夜间睡眠脑电纺锤波的观察

婴儿夜间睡眠脑电纺锤波的观察张慧秀,朱国庆,张景行,孔秀（安徽医科大学睡眠障碍研究室,安徽医科大学附属医院合肥２３００３２）婴儿睡眠纺锤波是作为慢波睡眠（ＳＷＳ）的一个标志,也可作为中枢神经系统机能正常与否的一个指标。为了解婴儿睡眠纺锤波发育情况并明...     

孤独症研究新进展:新发突变及CHD8功能

孤独症(即自闭症谱系障碍)是最常见的儿童中枢神经系统发育紊乱疾病。目前尚无特效治疗药物。最新的突破性进展是通过外显子组测序发现了一批与孤独症相关的单基因新发突变(de novo mutation)。在筛查到的众多孤独症相关新突变基因中,染色体结构域解旋酶DNA结合蛋白8(chromodomain helicase DNA-binding protein 8,CHD8)突变频率最高,是一个重要的孤独症候选致病基因。CHD8与p53、β-catenin等转录因子结合,具有复杂的转录调控作用。孤独症致病基因的发现为孤独症的诊断和治疗提供了分子靶标。     

“自闭症的生物化学”连载(一) 甲基化DNA结合蛋白MeCP2的神秘使命

导言自闭症(autism),又称孤独症,是一类严重影响青少年身心健康的精神性疾病。这种疾病在1946年由美国医生Leo Kanner首先系统阐述,表现为社交沟通障碍、无法正常与人交流、语言发育迟缓或障碍并带有重复刻板行为[1]。一部分自闭症患者具备超乎常人的能力,例如机械记忆、数学、绘画、音乐等。在诸多影视作品如《雨人》中,呆板但有超常数学天才的哥哥就是一个经典的自闭症病人形象。这种疾病严重影响青少年的正常生长发育,患者常常无法进入正常的教育环境接受教育,以及因为古怪刻板行为遭受社会     

老年帕金森病患者睡眠障碍的危险因素及其对认知功能、心理状态和衰弱的影响

摘要 目的：探讨老年帕金森病（PD）患者睡眠障碍的危险因素,并观察睡眠障碍对认知功能、心理状态和衰弱的影响。方法：选取2018年3月~2021年9月期间中国人民解放军海军青岛特勤疗养中心收治的91例老年PD患者作为研究对象,根据是否存在睡眠障碍将入选的91例患者分为睡眠障碍组（n=56）及非睡眠障碍组（n=35）。采用蒙特利尔认知评估量表（MoCA）评估所有患者的认知功能状况。采用汉密尔顿焦虑量表（HAMA）、汉密尔顿抑郁量表（HAMD）评价患者焦虑、抑郁情况。采用Tilburg衰弱评估量表评估所有患者的衰弱情况。采用多因素Logistic回归分析探讨老年PD患者睡眠障碍的危险因素,并观察睡眠障碍对认知功能、心理状态和衰弱的影响。结果：睡眠障碍组的视空间与执行功能、语言、命名、延迟回忆、注意、抽象、定向评分及总分均低于非睡眠障碍组（P<0.05）。睡眠障碍组的HAMA、HAMD评分均高于非睡眠障碍组（P<0.05）。睡眠障碍组的心理衰弱、躯体衰弱、社会衰弱评分及总分均高于非睡眠障碍组（P<0.05）。多因素Losgistic回归分析结果显示：HAMA评分偏高、多巴丝肼片等效剂量偏高、HAMD评分偏高、Hcy偏高是老年PD患者睡眠障碍的危险因素（P<0.05）。结论：HAMA评分偏高、Hcy偏高、多巴丝肼片等效剂量偏高、HAMD评分偏高是老年PD患者睡眠障碍的危险因素。同时,睡眠障碍可加重老年PD患者的认知功能障碍和衰弱程度,增加抑郁焦虑情绪。     

自闭症个体道德推理的心理机制及其脑机制

社交障碍是自闭症个体主要的临床症状之一,对他们的道德推理状况进行研究有助于我们解释这一现象.研究表明,自闭症个体在进行道德推理时和常人之间有所不同,而道德推理任务中经常包含有心理理解和移情方面的信息,提示我们自闭症个体的心理推理和移情能力可能是影响他们道德推理的内在心理机制.自闭症个体能够区分道德违背和习俗违背,但是他们经常判断不是故意造成的伤害是有意的.他们对伤害者的情绪线索也不太敏感,不能理解他人的感受,这种移情能力和道德推理能力之间的表现是相关的.此外,自闭症个体对道德推理的解释和言语发展水平之间也存在关联,他们经常通过重复故事情节、引述具体后果来解释道德推理,而缺乏对抽象道德规则的描述.脑成像研究表明,自闭症个体进行道德推理时在眶额叶皮质、杏仁核、脑岛、额下回、前扣带回、内侧前额叶皮质、默认网络模式、右颞顶联合区等部位的激活程度与常人存在着显著差异,这些部位同时也是心理理论或移情能力的重要脑区.自闭症个体在句子加工任务中言语功能联合区的激活程度也与常人存在差异,这可能是他们在对道德推理进行解释时存在困难的内部原因.未来研究需要考察心理理论、移情和言语能力对自闭症道德推理的交互作用,并采取非言语的方式对自闭症个体的道德推理进行研究,同时可通过脑损伤技术和激素水平的分析对影响他们道德推理的生理机制进行更加全面的考察.     

注意缺陷多动障碍儿童睡眠障碍与铁缺乏关系 的临床研究

目的:探讨注意缺陷多动障碍(ADHD)患儿睡眠障碍与血清铁蛋白水平的关系。方法:符合美国精神疾病诊断与统计手册第4版(DSM-Ⅳ)中ADHD诊断标准的62例6-14岁ADHD患儿,由ADHD患儿的父母填写睡眠障碍量表(SDSC),检测ADHD患儿的血清铁蛋白水平。结果:与血清铁蛋白水平高于45μg/L的ADHD患儿相比较,血清铁蛋白水平低于45μg/L的ADHD患儿的SDSC"睡眠醒觉转换障碍"项评分和总分明显高于前者(P<0.05)。2组间其他项评分比较无显著性差异(P>0.05)。SDSC"睡眠醒觉转换障碍"项评分与血清铁蛋白水平成负相关(P<0.05)。结论:血清铁蛋白水平低于45μg/LADHD患儿SDSC"睡眠醒觉转换障碍"(睡眠中的异常运动)的危险性显著增加。     

脑胶质瘤患者术后睡眠障碍的影响因素分析及对认知功能、心理状态和康复进程的影响

摘要 目的：分析脑胶质瘤患者术后睡眠障碍的影响因素,并探讨术后睡眠障碍对机体认知功能、心理状态和康复进程的影响。方法：选择2019年4月~2021年12月期间中国医科大学附属第一医院收治的260例脑胶质瘤患者。根据病例资料收集并记录患者基本信息,采用单因素和多因素Logistic回归分析脑胶质瘤患者术后睡眠障碍的影响因素。以匹茨堡睡眠质量指数量表（PSQI）评估所有患者的睡眠质量;以简易智力状态检查量表（MMSE）、蒙特利尔认知评估量表（MoCA）评估所有患者的认知功能;以焦虑自评量表（SAS）评分和抑郁自评量表（SDS）评估所有患者的心理状态。观察睡眠障碍对机体认知功能、心理状态和康复进程的影响。结果：260例脑胶质瘤患者中,出现睡眠障碍的有98例,睡眠障碍发生率为37.69%。根据是否发生睡眠障碍将患者分为睡眠障碍组（n=98）和无睡眠障碍组（n=162）。单因素分析结果显示：脑胶质瘤患者术后睡眠障碍与性别、肿瘤部位、脑胶质瘤病理分级、肿瘤直径、合并疾病数量、术后疼痛评分有关（P<0.05）,而与年龄、体质量指数、文化程度、家庭人均月收入、手术时间、术中出血量、肿瘤占位症状、吸烟史、饮酒史、术前卡式功能状态（KPS）评分无关（P>0.05）。多因素Logistic回归分析结果显示：性别为女、合并疾病数量2种及其以上、术后疼痛评分偏高、肿瘤部位为多个脑叶、脑胶质瘤病理分级为Ⅲ级是脑胶质瘤患者术后睡眠障碍的危险因素（P<0.05）。睡眠障碍组的MoCA、MMSE评分均低于无睡眠障碍组（P<0.05）。睡眠障碍组的SAS、SDS评分均高于无睡眠障碍组（P<0.05）。睡眠障碍组的术后恢复进食时间、首次下床活动时间、尿管拔除时间、术后住院时间均长于无睡眠障碍组（P<0.05）。结论：脑胶质瘤患者术后睡眠障碍的发生率较高,性别、术后疼痛评分、合并疾病数量、脑胶质瘤病理分级、肿瘤部位均是睡眠障碍的影响因素,睡眠障碍会影响患者的认知功能,增加抑郁焦虑程度,影响康复进程。     

Dynamical properties of the two-process model for sleep-wake cycles in infantile autism

The two-process model is a scheme for the timing of sleep that consists of homeostatic (Process S) and circadian (Process C) variables. The two-process model exhibits abnormal sleep patterns such as internal desynchronization or sleep fragmentation. Early infants with autism often experience sleep difficulties. Large day-by-day changes are found in the sleep onset and waking times in autistic children. Frequent night waking is a prominent property of their sleep. Further, the sleep duration of autistic children is often fragmented. These sleep patterns in infants with autism are not fully understood yet. In the present study, the sleep patterns in autistic children were reproduced by a modified two-process model using nonlinear analysis. A nap term was introduced into the original two-process model to reproduce the sleep patterns in early infants. The nap term and the time course of Process S are mentioned in the present study. Those parameters led to bifurcation of the sleep-wake cycle in the modified two-process model. In a certain range of these parameter sets, a small external noise was amplified, and an irregular sleep-wake cycle appeared. The short duration of sleep led to another irregular sleep onset or waking. Consequently, an irregular sleep-wake cycle appeared in early infantile autism.     

Characteristics of detection of the general direction of movement of visual objects by preschool-age children with typical and atypical cognitive development

The specifics of functioning of two channels for processing visual information, the magnocellular and parvocellular ones, in preschool children with normal and impaired cognitive development have been studied. Children with delayed psychological development have been found to have a diminished activity in the magnocellular channel due to weakening of the mechanism responsible for assessing the temporal parameters of the visual input. At the same time, children displaying a spectrum of infantile autism syndromes complicated by a delayed psychological development and mental retardation have a pronounced deficit in information processing in both channels of the visual system, manifested in an impaired ability to assess the direction of movement in terms of both temporal and spatial characteristics of the objects. The degree of this impairment is correlated with both the severity of the particular neurological disorder and the level of speech development of the child.     

Enuresis; a critical review of the symptom

Enuresis is a symptom for which many kinds of treatments ranging the gamut of unscientific medical practices have been tried. To establish bladder control at the appropriate age is important because it means self-control, one of the foundations of a healthy personality. In most children with enuresis there has been no convincing demonstration of organic pathology of the urinary system. The cure of enuresis lies in the correction of psychological causal factors such as sibling jealousy, suppressed hostile feelings and sex difficulties. Routine urologic investigation of enuresis is unwarranted and unkind, unless there is a valid medical indication. Any therapeutic program for enuresis should center upon the child and not his bladder.     

Why is joint attention a pivotal skill in autism?

Joint attention abilities play a crucial role in the development of autism. Impairments in joint attention are among the earliest signs of the disorder and joint attention skills relate to outcome, both in the 'natural course' of autism and through being targeted in early intervention programmes. In the current study, concurrent and longitudinal associations between joint attention and other social communication abilities measured in a sample of infants with autism and related pervasive developmental disorders at age 20 months, and language and symptom severity at age 42 months, were examined. Extending the findings from previous studies, joint attention ability was positively associated with language gains and (lower) social and communication symptoms, and imitation ability was also positively associated with later language. Some specificity in the association between different aspects of joint attention behaviours and outcome was found: declarative, triadic gaze switching predicted language and symptom severity but imperative, dyadic eye contact behaviours did not. Further, although joint attention was associated with later social and language symptoms it was unrelated to repetitive and stereotyped symptoms, suggesting the latter may have a separate developmental trajectory. Possible deficits in psychological and neurological processes that might underlie the impaired development of joint attention in autism are discussed.     

Les troubles sexuels à l’origine d’une infertilité sont-ils une indication ou une contre-indication de l’A.M.P.?

The observation of 11 couples requesting MAP and presenting sexual disorders (male or mixed) responsible for infertility, led us to a number of conclusions: sexual disorders are a rare but not exceptional cause of infertility. Sexuality and the couple dynamics must be systematically assessed at an infertility visit. The absence of fertilizing sexual intercourse is not a disease, but a symptom, a body message, which always reflects psychological conflicts. Schematically, two groups can be distinguished: loving couples blocked by a repressed infantile drama or unresolved transgenerational conflicts; couples in which the desire for a child is designed to resolve serious marital dysfunction. These couples require preliminary psychotherapy and/or sex therapy to elucidate the meaning of the symptom with liberation of the couple’s sexuality, or, on the contrary, abandonment of the desire for a child until the marital conflict has been resolved. Medical management must not mask the couple’s absence of sexuality and must not promote dissociation between the sexual act and reproduction, which inevitably has certain symbolic psychological consequences. Management must be based on a multidisciplinary approach avoiding any position of omnipotence, and allowing evaluation of the indication for MAP.     

Biological and psychological rhythms: An integrative approach to rhythm disturbances in autistic disorder

Biological rhythms are crucial phenomena that are perfect examples of the adaptation of organisms to their environment. A considerable amount of work has described different types of biological rhythms (from circadian to ultradian), individual differences in their patterns and the complexity of their regulation. In particular, the regulation and maturation of the sleep–wake cycle have been thoroughly studied. Its desynchronization, both endogenous and exogenous, is now well understood, as are its consequences for cognitive impairments and health problems. From a completely different perspective, psychoanalysts have shown a growing interest in the rhythms of psychic life. This interest extends beyond the original focus of psychoanalysis on dreams and the sleep–wake cycle, incorporating central theoretical and practical psychoanalytic issues related to the core functioning of the psychic life: the rhythmic structures of drive dynamics, intersubjective developmental processes and psychic containment functions. Psychopathological and biological approaches to the study of infantile autism reveal the importance of specific biological and psychological rhythmic disturbances in this disorder. Considering data and hypotheses from both perspectives, this paper proposes an integrative approach to the study of these rhythmic disturbances and offers an etiopathogenic hypothesis based on this integrative approach.     

The Association between Daytime Napping and Cognitive Functioning in Chronic Fatigue Syndrome

Objectives

The precise relationship between sleep and physical and mental functioning in chronic fatigue syndrome (CFS) has not been examined directly, nor has the impact of daytime napping. This study aimed to examine self-reported sleep in patients with CFS and explore whether sleep quality and daytime napping, specific patient characteristics (gender, illness length) and levels of anxiety and depression, predicted daytime fatigue severity, levels of daytime sleepiness and cognitive functioning, all key dimensions of the illness experience.

Methods

118 adults meeting the 1994 CDC case criteria for CFS completed a standardised sleep diary over 14 days. Momentary functional assessments of fatigue, sleepiness, cognition and mood were completed by patients as part of usual care. Levels of daytime functioning and disability were quantified using symptom assessment tools, measuring fatigue (Chalder Fatigue Scale), sleepiness (Epworth Sleepiness Scale), cognitive functioning (Trail Making Test, Cognitive Failures Questionnaire), and mood (Hospital Anxiety and Depression Scale).

Results

Hierarchical Regressions demonstrated that a shorter time since diagnosis, higher depression and longer wake time after sleep onset predicted 23.4% of the variance in fatigue severity (p <.001). Being male, higher depression and more afternoon naps predicted 25.6% of the variance in objective cognitive dysfunction (p <.001). Higher anxiety and depression and morning napping predicted 32.2% of the variance in subjective cognitive dysfunction (p <.001). When patients were classified into groups of mild and moderate sleepiness, those with longer daytime naps, those who mainly napped in the afternoon, and those with higher levels of anxiety, were more likely to be in the moderately sleepy group.

Conclusions

Napping, particularly in the afternoon is associated with poorer cognitive functioning and more daytime sleepiness in CFS. These findings have clinical implications for symptom management strategies.     

NEONATAL ASPHYXIA IN THE RAT: GREATER VULNERABILITY OF MALES AND PERSISTENT EFFECTS ON BRAIN MONOAMINE SYNTHESIS

In the rat, neonatal asphyxia produced by suffocation did not leave permanent visible lesions in thc brain, nor did it result in permanent motor impairment, although a delay in the development of some reflexes was observed. A transient retardation of body and brain growth, which was more pronounced in males, was found. By 5-6 weeks of age, body and brain weights of asphyxiated rats were no longer significantly different from control animals. However, an increase in brain norepinephrine synthesis was found to persist after maturation. An alteration of serotonin metabolism was found after maturation only in asphyxiated males. The possibility that neonatal asphyxia in the rat is a model for abnormal development of monoamine metabolism, relevant to early childhood behavior disorders such as infantile autism or the syndrome of minimal brain dysfunction, is discussed.     

突触后致密物基因与孤独症

孤独症是一种病因不明的广泛性发育障碍疾病,它是孤独症谱系障碍的代表疾病,发病年龄早,大多在3岁以内起病,以社会交往障碍,言语交流障碍,动作行为的重复刻板和兴趣范围狭窄为三大临床核心症状。孤独症发病率呈逐年增高趋势,我国患者量已超过一百万。但是迄今为止仍没有特异的方法与手段对孤独症进行彻底有效地诊治,为社会和家庭带来了沉重的负担,因此,其发病机制是迫切需要研究的难题。目前国际上公认为遗传因素在孤独症的发病中起着重要作用,但对于致病基因的确定仍不明确。突触后致密物(PSD)在中枢神经系统神经递质和信息的传递过程中起重要作用,影响学习记忆及认知相关功能,而孤独症患者存在认知相关功能损伤的表现,二者可能存在一定的联系。本文对PSD基因功能以及与孤独症关系的研究加以综述,希望有助于孤独症的病因学研究,以期早日改善该病的诊疗及预防。     

结肠途径治疗机辅助治疗急性黄疸性肝炎的临床研究

目的探讨结肠途径治疗机辅助治疗急性黄疸性肝炎的临床疗效.方法选择60例急性黄疸性肝炎患者,随机分成2组,分别给予常规治疗及常规治疗加肠疗,观察时间为15 d,30例健康人为正常对照组.分析2组患者治疗前后血液生化指标和肠道菌群变化,并观察临床症状和体症的改善情况.结果肠疗组患者的肝功能的恢复程度好于常规治疗组,且临床症状的改善较常规治疗组差异有显著性(P＜0.01);与正常对照组相比,肠疗组双歧杆菌、乳酸杆菌含量明显下降(P＜0.05).结论肠疗能有效改善患者临床症状及血液生化指标;肠疗治疗后肠道菌群仍轻度失调.