• 【人类心室病理学的形态学控制: 继发性ASD中LV肌纤维的形态学和形态学评估。】 复制标题 收藏 收藏
    DOI: 复制DOI
    作者列表:Gregory MA,Whitton ID
    BACKGROUND & AIMS: :Ethical considerations preclude the biopsy of normal human myocardium. As a consequence, morphological investigations of diseased human heart muscle are hampered by a lack of suitable normal control tissue. The left ventricular (LV) myocardium of patients with isolated secundum atrial septal defect (ASD) is considered to be normal. This study was designed to investigate the possibility that the fine-structure of LV myofibres in hearts with ASD could be used as normal controls for myofibre pathomorphology. Wedge biopsies from the LV of four adults undergoing elective surgery for the repair of ASD were examined by light and electron microscopy. Bivariant myofibre morphometry showed that the LV myocardium of one specimen was 'normal' while three specimens exhibited varying degrees of hypertrophy. There was a correlation between the diameter (FD) and morphology of individual myofibres within and between specimens. In general, myofibres with FD less than 25 microns were similar in fine-structural appearance to those described as morphologically normal in animal models whereas those with FD greater than 25 microns exhibited hypertrophic features that increased in 'severity' with increase in myofibre size. It is proposed that although the LV myocardium in ASD may be mildly hypertrophied, myofibres with FD less than 25 microns are probably normal and may be used as fine-structural controls for myofibre pathomorphology in hearts suspected of disease.
    背景与目标: 伦理考虑排除了正常人心肌的活检。结果,由于缺乏合适的正常对照组织,阻碍了患病人心肌的形态学研究。孤立的继发性房间隔缺损 (ASD) 患者的左心室 (LV) 心肌被认为是正常的。这项研究旨在研究ASD心脏中LV肌纤维的精细结构可以用作肌纤维病理形态学的正常对照的可能性。通过光学和电子显微镜检查了四名接受择期手术以修复ASD的成年人的LV的楔形活检。双变型肌纤维形态测定表明,一个标本的LV心肌是 “正常的”,而三个标本则表现出不同程度的肥大。标本内部和之间的单个肌纤维的直径 (FD) 与形态之间存在相关性。通常,FD小于25微米的肌纤维在精细结构外观上与动物模型中描述为形态正常的肌纤维相似,而FD大于25微米的肌纤维表现出肥厚特征,随着肌纤维大小的增加,其 “严重” 增加。有人提出,尽管ASD中的LV心肌可能轻度肥大,但FD小于25微米的肌纤维可能是正常的,可以用作怀疑有疾病的心脏中肌纤维病理形态的精细结构对照。
  • 【解码多巴胺能基因和途径对自闭症谱系障碍 (ASD) 的贡献。】 复制标题 收藏 收藏
    DOI:10.1016/j.neuint.2014.01.002 复制DOI
    作者列表:Nguyen M,Roth A,Kyzar EJ,Poudel MK,Wong K,Stewart AM,Kalueff AV
    BACKGROUND & AIMS: :Autism spectrum disorder (ASD) is a debilitating brain illness causing social deficits, delayed development and repetitive behaviors. ASD is a heritable neurodevelopmental disorder with poorly understood and complex etiology. The central dopaminergic system is strongly implicated in ASD pathogenesis. Genes encoding various elements of this system (including dopamine receptors, the dopamine transporter or enzymes of synthesis and catabolism) have been linked to ASD. Here, we comprehensively evaluate known molecular interactors of dopaminergic genes, and identify their potential molecular partners within up/down-steam signaling pathways associated with dopamine. These in silico analyses allowed us to construct a map of molecular pathways, regulated by dopamine and involved in ASD. Clustering these pathways reveals groups of genes associated with dopamine metabolism, encoding proteins that control dopamine neurotransmission, cytoskeletal processes, synaptic release, Ca(2+) signaling, as well as the adenosine, glutamatergic and gamma-aminobutyric systems. Overall, our analyses emphasize the important role of the dopaminergic system in ASD, and implicate several cellular signaling processes in its pathogenesis.
    背景与目标: 自闭症谱系障碍 (ASD) 是一种使人衰弱的脑部疾病,会导致社会缺陷,发育延迟和重复行为。ASD是一种遗传性神经发育障碍,病因尚不清楚且复杂。中枢多巴胺能系统与ASD发病机制密切相关。编码该系统各种元素的基因 (包括多巴胺受体,多巴胺转运蛋白或合成和分解代谢的酶) 已与ASD相关。在这里,我们全面评估多巴胺能基因的已知分子相互作用,并在与多巴胺相关的上/下蒸汽信号通路中确定其潜在的分子伙伴。这些计算机分析使我们能够构建由多巴胺调节并参与ASD的分子途径图。对这些途径进行聚类揭示了与多巴胺代谢相关的基因组,编码控制多巴胺神经传递,细胞骨架过程,突触释放,Ca(2) 信号传导以及腺苷,谷氨酸能和 γ-氨基丁酸系统的蛋白质。总的来说,我们的分析强调了多巴胺能系统在ASD中的重要作用,并暗示了其发病机理中的几个细胞信号过程。
  • 【具体节律和机器人干预对自闭症谱系障碍 (ASD) 儿童自发和反应的社会注意模式的影响: 一项随机对照试验。】 复制标题 收藏 收藏
    DOI:10.1016/j.rasd.2016.01.004 复制DOI
    作者列表:Srinivasan SM,Eigsti IM,Neelly L,Bhat AN
    BACKGROUND & AIMS: :We compared the effects of 8-weeks of rhythm and robotic interventions with those of a comparison, standard-of-care intervention, on the spontaneous and responsive social attention patterns of school-age children with Autism Spectrum Disorder. Attention patterns were examined within a standardized pretest/posttest measure of joint attention (JA) and a training-specific social attention measure during early, mid, and late training sessions. The rhythm and comparison groups demonstrated improvements in JA. Social attention was greater in the rhythm followed by the robot and lastly the comparison group. The robot and comparison groups spent maximum time fixating on the robot and objects, respectively. Across sessions, the robot group decreased attention to the robot and increased attention to elsewhere. Overall, rhythmic movement contexts afford sustained social monitoring in children with autism.
    背景与目标: : 我们比较了8周的节律和机器人干预与比较的护理标准干预对自闭症谱系障碍学龄儿童自发和反应迅速的社会注意模式的影响。在早期,中期和晚期培训课程中,在标准化的联合注意力 (JA) 前测试/后测试措施和针对特定培训的社会注意力措施中检查了注意力模式。节奏和比较组显示了JA的改善。机器人,最后是比较组的节奏,社会关注度更高。机器人和比较组分别花费最大时间固定在机器人和物体上。在整个会议期间,机器人小组减少了对机器人的关注,并增加了对其他地方的关注。总体而言,有节奏的运动环境为自闭症儿童提供了持续的社会监测。
  • 【体现的节律和机器人干预对自闭症谱系障碍 (ASD) 儿童自发和反应的口头交流技巧的影响: 一项随机对照试验的进一步结果。】 复制标题 收藏 收藏
    DOI:10.1016/j.rasd.2016.04.001 复制DOI
    作者列表:Srinivasan SM,Eigsti IM,Gifford T,Bhat AN
    BACKGROUND & AIMS: :The current manuscript is the second in a mini-series of manuscripts reporting the effects of alternative, movement-based, rhythm and robotic interventions on the social communication skills of 36 school-age children with ASD. This pilot randomized controlled trial compared the effects of 8-weeks of rhythm and robotic interventions to those of a standard-of-care, comparison intervention. The first manuscript reported intervention effects on the spontaneous and responsive social attention skills of children. In this manuscript, we report intervention effects on the spontaneous and responsive verbal communication skills of children. Communication skills were assessed within a standardized test of responsive communication during the pretest and posttest as well as using training-specific measures of social verbalization during early, mid, and late training sessions. The rhythm and comparison groups improved on the standardized test in the posttest compared to the pretest. The rhythm and robot groups increased levels of social verbalization across training sessions. Movement-based and stationary contexts afforded different types and amounts of communication in children with ASD. Overall, movement-based interventions are a promising tool to enhance verbal and non-verbal communication skills in children with ASD.
    背景与目标: : 当前的手稿是小型手稿系列中的第二篇,报告了替代,基于运动,节奏和机器人干预对36名ASD学龄儿童的社会沟通技巧的影响。这项随机对照试验比较了8周节律和机器人干预与标准护理比较干预的效果。第一篇手稿报告了干预对儿童自发和反应迅速的社会注意技能的影响。在本手稿中,我们报告了干预对儿童自发和反应灵敏的口头交流技巧的影响。在前测试和后测试期间的响应式沟通标准化测试中评估了沟通技巧,并在早期,中期和后期培训期间使用了针对特定培训的社交语言化措施。与前测相比,后测中的标准化测试的节奏和比较组有所改善。节奏和机器人组在整个培训课程中提高了社交表达水平。基于运动和静止的环境为ASD儿童提供了不同类型和数量的交流。总体而言,基于运动的干预措施是增强ASD儿童的言语和非语言交流技能的有前途的工具。
  • 【减少自闭症患者的公共手淫: 对反应中断程序的评估。】 复制标题 收藏 收藏
    DOI:10.1177/0145445518824277 复制DOI
    作者列表:Cividini-Motta C,Moore K,Fish LM,Priehs JC,Ahearn WH
    BACKGROUND & AIMS: :Individuals with autism may engage in sexual behavior at inappropriate times and/or in inappropriate places. The current study investigated the effects of response interruption and redirection (RIRD) and response interruption (RI) on public masturbation (PM) of children and adolescents with autism. Initial assessments showed that PM was maintained by automatic reinforcement. During the treatment evaluation phase, we compared RIRD and RI to determine whether either procedure was successful in decreasing the duration of PM. In the RIRD condition, contingent on the occurrence of any PM the participant completed physical activities involving both hands (e.g., moving chairs, touching toes). In the RI condition, the therapist interrupted all instances of PM using physical and verbal prompts (e.g., saying in a neutral tone, "Stop that" and moving hands away from genitals). Both procedures were effective in decreasing the duration of PM but RI required fewer resources and less time. Clinical implications and suggestions for future research are reviewed.
    背景与目标: : 自闭症患者可能会在不适当的时间和/或不适当的地方进行性行为。当前的研究调查了自闭症儿童和青少年的反应中断和重定向 (RIRD) 和反应中断 (RI) 对公共手淫 (PM) 的影响。初步评估显示,PM通过自动加固进行维护。在治疗评估阶段,我们比较了RIRD和RI,以确定两种手术是否成功减少了PM的持续时间。在RIRD条件下,取决于任何PM的发生,参与者完成了涉及双手的身体活动 (例如,移动椅子,触摸脚趾)。在RI条件下,治疗师使用物理和口头提示 (例如,以中性语气说 “停止” 并将手从生殖器上移开) 中断了所有PM实例。这两种方法都可以有效地减少PM的持续时间,但是RI需要更少的资源和更少的时间。回顾了临床意义和对未来研究的建议。
  • 【为ASD制备选择合适的溶剂。】 复制标题 收藏 收藏
    DOI:10.1021/acs.molpharmaceut.8b00892 复制DOI
    作者列表:Luebbert C,Real D,Sadowski G
    BACKGROUND & AIMS: :Amorphous solid dispersions (ASDs) are often used for formulating poorly water-soluble active pharmaceutical ingredients (APIs). In an ASD, the amorphous API is embedded in a suitable matrix excipient in order to stabilize the amorphous state and control the dissolution performance. ASDs can be prepared by commonly dissolving the API and the polymer in a suitable organic solvent which is evaporated afterward (e.g., via spray drying) aiming at a homogeneous API distribution in the polymer matrix. Sometimes, unexpected solvent influences on the heterogeneity of the dry ASD are observed. Thermodynamic predictions using the Perturbed-Chain Statistical Associating Fluid Theory combined with experimental investigations via Raman spectroscopy, differential scanning calorimetry, and microscopy performed in this work revealed the amorphous phase separation (APS) between the solvent and the polymer as causing the ASD heterogeneities. It will be shown that thermodynamic modeling allows for identifying appropriate solvents that will neither show APS with the polymeric excipient nor at any time of the drying process of ASD formulations.
    背景与目标: : 无定形固体分散体 (asd) 通常用于配制水溶性差的活性药物成分 (api)。在ASD中,将无定形API嵌入合适的基质赋形剂中,以稳定无定形状态并控制溶解性能。ASDs可以通过通常将API和聚合物溶解在合适的有机溶剂中制备,所述有机溶剂随后 (例如,通过喷雾干燥) 蒸发,以使API在聚合物基质中均匀分布。有时,会观察到意外的溶剂对干燥ASD的异质性的影响。使用扰动链统计关联流体理论进行的热力学预测,结合拉曼光谱,差示扫描量热法和显微镜的实验研究,在这项工作中进行了研究,揭示了溶剂和聚合物之间的非晶相分离 (APS) 导致ASD异质性。将表明,热力学模型允许鉴定合适的溶剂,这些溶剂既不会显示带有聚合物赋形剂的APS,也不会在ASD制剂的干燥过程的任何时间显示APS。
  • 【为参加社区计划的ASD成年人制定调查方案的概念证明研究。】 复制标题 收藏 收藏
    DOI:10.1521/bumc.2019.83.2.152 复制DOI
    作者列表:Jozkowski AC,Wilson KP,Chasson GS,Crabtree L
    BACKGROUND & AIMS: :There is limited research regarding the effectiveness of community-based services for young adults with autism spectrum disorder (ASD) as they transition out of school and enter a more autonomous life stage. This study utilized a two-phase, mixed methods design to determine the feasibility and participant acceptability of a protocol developed to standardize an assessment of program effectiveness for young adults with ASD at a community-based center. Field notes, participant interviews, and clinical observations were combined with descriptive analysis of participant survey responses. This study offers insights into the process of effective outcomes measurement for young adults with ASD participating in community-based programs. Administration of the study's protocol is feasible; however, alternative methods of data collection should continue to be explored. Furthermore, research in the form of a pilot study is needed to further determine the protocol's facility for assessing program outcomes in young adults with ASD.
    背景与目标: : 关于针对自闭症谱系障碍 (ASD) 的年轻人的社区服务的有效性的研究有限,因为他们从学校过渡到进入更自主的生活阶段。这项研究采用了两阶段的混合方法设计,以确定开发的协议的可行性和参与者的可接受性,该协议旨在标准化社区中心对患有ASD的年轻人的计划有效性评估。现场笔记,参与者访谈和临床观察与参与者调查答复的描述性分析相结合。这项研究为参加社区计划的ASD年轻人提供了有效结果测量过程的见解。研究方案的管理是可行的; 但是,应继续探索其他数据收集方法。此外,还需要以试点研究的形式进行研究,以进一步确定该方案用于评估患有ASD的年轻人的计划结果的工具。
  • 【肺动脉压对晚期房性心律失常的重要性在经导管和手术闭合的ASD型secundum中。】 复制标题 收藏 收藏
    DOI:10.1016/j.ijcard.2010.07.014 复制DOI
    作者列表:Van De Bruaene A,Delcroix M,Pasquet A,De Backer J,Paelinck B,Morissens M,Budts W
    BACKGROUND & AIMS: AIMS:Atrial fibrillation and flutter remain an important cause of morbidity in adults with atrial septal defect (ASD). This study aimed at investigating predictors for late (≥ 1 month after repair) atrial arrhythmia. METHODS:Patients who underwent ASD closure after the age of 18 years, were selected through the databases of three medical centres in Belgium. Preprocedural, periprocedural and follow-up data were extracted. Univariate and multivariate Cox-regression analysis was performed. Kaplan-Meier analysis was performed for any independent predictor of late atrial arrhythmia. RESULTS:A total of 155 patients (38 men and 117 women) was included. Twenty-four patients (median age 48.3 years, range 19.9-79.8) underwent surgical and 131 (median age 57.6 years, range 18.2-86.9) underwent transcatheter closure. Thirty-nine patients (25.2%) presented with late atrial arrhythmia. Male gender (P = 0.008), creatinine (P = 0.002), atrial arrhythmia before (P < 0.0001) and within 1 month after repair (P = 0.001) and a mean pulmonary artery pressure (mPAP) ≥ 25 mmHg (P < 0.0001) correlated with late atrial arrhythmia in univariate Cox-regression analysis. Multivariate analysis showed that mPAP ≥ 25 mm Hg (HR 3.72; 95%CI 1.82-7.59; P < 0.0001) and the presence of atrial arrhythmia before (HR 3.22; 95%CI 1.56-6.66; P = 0.002) and within 1 month after repair (HR 2.08; 95%CI 2.08-15.92; P = 0.001) were predictive of late atrial arrhythmia. Kaplan-Meier analysis showed that patients with a mPAP ≥ 25 mm Hg had a higher risk at developing late atrial arrhythmia (P < 0.0001). CONCLUSION:In patients with ASD type secundum, a mPAP ≥ 25 mmHg is an independent predictor of late atrial arrhythmia. The presence of pulmonary hypertension before repair should raise awareness for atrial arrhythmias and may be used to guide therapy.
    背景与目标:
  • 【罂粟碱在ASD产前丙戊酸大鼠模型中减轻神经行为异常。】 复制标题 收藏 收藏
    DOI:10.1016/j.ejphar.2020.173663 复制DOI
    作者列表:Luhach K,Kulkarni GT,Singh VP,Sharma B
    BACKGROUND & AIMS: :Autism spectrum disorder (ASD) is a neurodevelopmental disorder with complex aetiology and phenotypes. Phosphodiesterase-10A (PDE10A) inhibition has shown to provide benefits in various brain conditions. We investigated the role of a PDE10A inhibitor, papaverine on core phenotypes in prenatal-valproic acid (Pre-VPA) model of ASD. In order to identify probable mechanisms involved, the effects on several protein markers of neuronal function such as, neurogenesis-DCX, neuronal survival-BDNF, synaptic transmission-synapsin-IIa, neuronal transcription factor-pCREB, neuronal inflammation (IL-6, IL-10 and TNF-α) and neuronal oxidative stress (TBARS and GSH) were studied in frontal cortex, cerebellum, hippocampus and striatum. Pre-VPA induced impairments in social behaviour, presence of repetitive behaviour, hyper-locomotion, anxiety, and diminished nociception were studied in male Albino Wistar rats. Administration of papaverine to Pre-VPA animals resulted in improvements of social behaviour, corrected repetitive behaviour, anxiety, locomotor, and nociceptive changes. Also, papaverine resulted in a significant increase in the levels of BDNF, synapsin-IIa, DCX, pCREB, IL-10 and GSH along with significant decrease in TNF-α, IL-6 and TBARS in different brain areas of Pre-VPA group. Finally, high association between behavioural parameters and biochemical parameters was observed upon Pearson's correlation analysis. Papaverine, administration rectified core behavioural phenotype of ASD, possibly by altering protein markers associated with neuronal survival, neurogenesis, neuronal transcription factor, neuronal transmission, neuronal inflammation, and neuronal oxidative stress. Implicating PDE10A as a possible target for furthering our understanding of ASD phenotypes.
    背景与目标: 自闭症谱系障碍 (ASD) 是一种具有复杂病因和表型的神经发育障碍。Phosphodiesterase-10A (PDE10A) 抑制已显示在各种大脑条件下提供益处。我们研究了PDE10A抑制剂罂粟碱对ASD产前丙戊酸 (Pre-VPA) 模型核心表型的作用。为了确定可能涉及的机制,对神经元功能的几种蛋白质标志物的影响,例如,神经发生-DCX,神经元存活-BDNF,突触传递-突触素-IIa,神经元转录因子-pCREB,神经元炎症 (IL-6,在额叶皮层,小脑,海马和纹状体中研究了IL-10和TNF-α) 和神经元氧化应激 (TBARS和GSH)。在雄性白化病Wistar大鼠中研究了VPA前引起的社交行为障碍,重复行为的存在,过度运动,焦虑和伤害感受减弱。对VPA前动物施用罂粟碱可改善社交行为,纠正重复行为,焦虑,运动能力和伤害性变化。此外,罂粟碱导致前VPA组不同脑区域的BDNF,synapsin-IIa,DCX,pCREB,IL-10和GSH的水平显着增加,同时TNF-α,IL-6和TBARS显着降低。最后,通过Pearson相关分析,观察到行为参数与生化参数之间的高度关联。罂粟碱,给药可能通过改变与神经元存活,神经发生,神经元转录因子,神经元传递,神经元炎症和神经元氧化应激相关的蛋白质标记物来纠正ASD的核心行为表型。暗示PDE10A是进一步了解ASD表型的可能靶标。
  • 【激活KIR分子及其同源配体在诊断为ASD的儿童及其母亲中占主导地位。】 复制标题 收藏 收藏
    DOI:10.1016/j.bbi.2013.10.006 复制DOI
    作者列表:Guerini FR,Bolognesi E,Chiappedi M,Manca S,Ghezzo A,Agliardi C,Zanette M,Littera R,Carcassi C,Sotgiu S,Clerici M
    BACKGROUND & AIMS: :The activity of natural killer (NK) cells is modulated by the interaction between killer-cell immune globulin-like receptor (KIR) proteins and their cognate HLA ligands; activated NK cells produce inflammatory cytokines and mediate innate immune responses. Activating KIR/HLA complexes (aKIR/HLA) were recently suggested to prevail in children with autism spectrum disorders (ASD), a neurodevelopmental syndrome characterized by brain and behavioral abnormalities and associated with a degree of inflammation. We verified whether such findings could be confirmed by analyzing two sample cohorts of Sardinian and continental Italian ASD children and their mothers. Results showed that aKIR/HLA are increased whereas inhibitory KIR/HLA complexes are reduced in ASD children; notably this skewing was even more significant in their mothers. KIR and HLA molecules are expressed by placental cells and by the trophoblast and their interactions result in immune activation and influence fetal, as well as central nervous system development and plasticity. Data herein suggest that in utero KIR/HLA immune interactions favor immune activation in ASD; this may play a role in the pathogenesis of the disease.
    背景与目标: : 自然杀伤 (NK) 细胞的活性受杀伤细胞免疫球蛋白样受体 (KIR) 蛋白与其同源HLA配体之间的相互作用调节; 活化的NK细胞产生炎性细胞因子并介导先天免疫反应。最近建议激活KIR/HLA复合物 (aKIR/HLA) 在自闭症谱系障碍 (ASD) 儿童中普遍存在,自闭症谱系障碍是一种神经发育综合征,其特征是大脑和行为异常,并伴有一定程度的炎症。我们通过分析撒丁岛和意大利大陆ASD儿童及其母亲的两个样本队列来验证是否可以证实这些发现。结果表明,ASD儿童的aKIR/HLA增加,而抑制性KIR/HLA复合物减少; 值得注意的是,这种偏斜在他们的母亲中更为明显。KIR和HLA分子由胎盘细胞和滋养细胞表达,它们的相互作用导致免疫激活并影响胎儿,以及中枢神经系统的发育和可塑性。本文的数据表明,子宫内的KIR/HLA免疫相互作用有利于ASD的免疫激活; 这可能在疾病的发病机理中起作用。
  • 【健康相关生活质量的前瞻性观察性队列研究: 明显的成人矢状畸形 (ASD) 与轻度至中度ASD的比较。】 复制标题 收藏 收藏
    DOI:10.1097/BRS.0000000000003170 复制DOI
    作者列表:Ryu DS,Shinn JK,Kim BW,Moon BJ,Ha Y,Lee JK,Kim KN,Chin DK,Yoon SH
    BACKGROUND & AIMS: STUDY DESIGN:Retrospective analysis of prospective observational cohort OBJECTIVE.: This study assessed the difference in health-related quality of life (HRQOL) between participants with a mild to moderate adult sagittal deformity (ASD) (sagittal vertical axis [SVA] ≤9.5 cm) and those with a marked deformity (SVA >9.5 cm). We also evaluated predisposing factors for a marked deformity. SUMMARY OF BACKGROUND DATA:Sagittal imbalance is closely associated with HRQOL for the patient. However, how the effect changes depending on the degree of imbalance has not been fully evaluated. The understanding of the predisposing factor associated with marked deformity also lacks. METHODS:A total of 124 elderly persons with a stooping posture were enrolled. Questionnaires related to HRQOL were administered. Sagittal alignment parameters and pelvic parameters were measured with a whole spine x-ray. Lumbar spine magnetic resonance imaging was used to assess the presence of pathologic conditions, muscle quality and quantity. Multivariate logistic regression analysis was conducted to analyze potential risk factors. RESULTS:Marked ASD was associated with female sex, lower height and weight, and osteoporosis (P < 0.05). Back pain (assessed by a visual analogue scale) and the Oswestry Disability Index were significantly higher in the marked deformity group (P = 0.012, 0.002, respectively). Multivariate logistic regression analysis showed significant relationships between the following parameters and marked deformity: preexisting compression fracture (odds ratio [OR] = 7.793; 95% confidence interval [CI], 1.527-39.768), severe L5/S1 Pfirrmann disc degeneration grade (OR = 1.916; 95% CI, 1.086-3.382), and lower quantities of multifidus and psoas muscles (OR = 0.994, 0.997; 95% CI, 0.991-0.998, 0.994-0.999, respectively). CONCLUSION:Participants with a marked ASD showed different features from those with a mild to moderate ASD. This study also implies that anatomical factors, including the vertebrae, intervertebral discs, and paraspinal muscles, synergistically contribute to progression into marked deformity. LEVEL OF EVIDENCE:3.
    背景与目标:
  • 【患有ASD的学龄前儿童在音乐和非音乐参与中的父母反应能力。】 复制标题 收藏 收藏
    DOI:10.1016/j.rasd.2020.101641 复制DOI
    作者列表:Boorom O,Muñoz V,Xin R,Watson M,Lense M
    BACKGROUND & AIMS: Background:Parent-child play interactions offer an important avenue for supporting social development in children with autism spectrum disorder (ASD). Musical play is a natural and ubiquitous form of parent-child play. As a familiar, reinforcing, and predictable activity, musical play may support parent-child interactions by scaffolding children's attention to the play activities, while also providing parents with a familiar and accessible context to promote parental responsiveness. However, musical play may also impede interactions due to its sensory and repetitive components. Method:12 parent-child dyads of preschoolers with ASD were video-recorded during a ten-minute play session that included musical and non-musical toys. Interactions were coded for parent and child musical engagement, as well as parental responsiveness. Results:Parent-child dyads varied in their amount of musical engagement during play, which was not related to children's language level. Overall, parents showed similar levels of responsiveness to children's play across musical and non-musical activities, but type of parental responsiveness differed depending on the play context. Parents provided significantly more physical play responses and significantly fewer verbal responses during musical vs. non-musical engagement with their child. Conclusions:There are substantial individual differences in children with ASD's musical engagement during a parent-child free play. Children's musical engagement impacted type of parental responsiveness, which may relate to the familiarity, accessibility, and sensory nature of musical play/toys. Results suggest that musical play/toys can both support and hinder different types of parental responsiveness with implications for incorporation of musical activities into interventions.
    背景与目标:
  • 【Asd-a fNIRS超扫描研究的儿童和青少年的大脑和运动同步。】 复制标题 收藏 收藏
    DOI:10.1093/scan/nsaa092 复制DOI
    作者列表:Kruppa JA,Reindl V,Gerloff C,Oberwelland Weiss E,Prinz J,Herpertz-Dahlmann B,Konrad K,Schulte-Rüther M
    BACKGROUND & AIMS: :Brain-to-brain synchrony has been proposed as an important mechanism underlying social interaction. While first findings indicate that it may be modulated in children with autism spectrum disorder (ASD), no study to date has investigated the influence of different interaction partners and task characteristics. Using functional near-infrared spectroscopy hyperscanning, we assessed brain-to-brain synchrony in 41 male typically developing (TD) children (8-18 years; control sample), as well as 18 children with ASD and age-matched TD children (matched sample), while performing cooperative and competitive tasks with their parents and an adult stranger. Dyads were instructed either to respond jointly in response to a target (cooperation) or to respond faster than the other player (competition). Wavelet coherence was calculated for oxy- and deoxyhemoglobin brain signals. In the control sample, a widespread enhanced coherence was observed for parent-child competition, and a more localized coherence for parent-child cooperation in the frontopolar cortex. While behaviorally, children with ASD showed a lower motor synchrony than children in the TD group, no significant group differences were observed on the neural level. In order to identify biomarkers for typical and atypical social interactions in the long run, more research is needed to investigate the neurobiological underpinnings of reduced synchrony in ASD.
    背景与目标: : 脑与脑的同步被认为是社会互动的重要机制。尽管最初的发现表明它可能在自闭症谱系障碍 (ASD) 儿童中受到调节,但迄今为止尚无研究调查不同互动伙伴和任务特征的影响。使用功能性近红外光谱超扫描,我们评估了41名男性典型发育 (TD) 儿童 (8-18岁; 对照样本) 以及18名患有ASD和年龄匹配的TD儿童 (匹配样本) 的脑-脑同步性,与父母和成年陌生人一起执行合作和竞争任务。指示二位玩家要么共同响应目标 (合作),要么比其他玩家更快地响应 (竞争)。计算氧和脱氧血红蛋白脑信号的小波相干性。在对照样本中,在亲子竞争中观察到广泛增强的相干性,而在额叶皮层中,亲子合作的相干性更为局部化。在行为上,患有ASD的儿童的运动同步性低于TD组的儿童,在神经水平上没有观察到显着的组差异。为了从长远来看识别典型和非典型社会互动的生物标志物,需要更多的研究来研究降低ASD同步性的神经生物学基础。
  • 【缺乏小白蛋白会增加体内抑制性Pvalb神经元的线粒体体积和树突的分支: 自闭症谱系障碍 (ASD) 风险基因表型的汇合点。】 复制标题 收藏 收藏
    DOI:10.1186/s13229-020-00323-8 复制DOI
    作者列表:Janickova L,Rechberger KF,Wey L,Schwaller B
    BACKGROUND & AIMS: BACKGROUND:In fast firing, parvalbumin (PV)-expressing (Pvalb) interneurons, PV acts as an intracellular Ca2+ signal modulator with slow-onset kinetics. In Purkinje cells of PV-/- mice, adaptive/homeostatic mechanisms lead to an increase in mitochondria, organelles equally capable of delayed Ca2+ sequestering/buffering. An inverse regulation of PV and mitochondria likewise operates in cell model systems in vitro including myotubes, epithelial cells, and oligodendrocyte-like cells overexpressing PV. Whether such opposite regulation pertains to all Pvalb neurons is currently unknown. In oligodendrocyte-like cells, PV additionally decreases growth and branching of processes in a cell-autonomous manner. METHODS:The in vivo effects of absence of PV were investigated in inhibitory Pvalb neurons expressing EGFP, present in the somatosensory and medial prefrontal cortex, striatum, thalamic reticular nucleus, hippocampal regions DG, CA3, and CA1 and cerebellum of mice either wild-type or knockout (PV-/-) for the Pvalb gene. Changes in Pvalb neuron morphology and PV concentrations were determined using immunofluorescence, followed by 3D-reconstruction and quantitative image analyses. RESULTS:PV deficiency led to an increase in mitochondria volume and density in the soma; the magnitude of the effect was positively correlated with the estimated PV concentrations in the various Pvalb neuron subpopulations in wild-type neurons. The increase in dendrite length and branching, as well as thickness of proximal dendrites of selected PV-/- Pvalb neurons is likely the result of the observed increased density and length of mitochondria in these PV-/- Pvalb neuron dendrites. The increased branching and soma size directly linked to the absence of PV is assumed to contribute to the increased volume of the neocortex present in juvenile PV-/- mice. The extended dendritic branching is in line with the hypothesis of local hyperconnectivity in autism spectrum disorder (ASD) and ASD mouse models including PV-/- mice, which display all ASD core symptoms and several comorbidities including cortical macrocephaly at juvenile age. CONCLUSION:PV is involved in most proposed mechanisms implicated in ASD etiology: alterations in Ca2+ signaling affecting E/I balance, changes in mitochondria structure/function, and increased dendritic length and branching, possibly resulting in local hyperconnectivity, all in a likely cell autonomous way.
    背景与目标:
  • 【自闭症谱系障碍儿童的促分泌素 (SCGN) 血浆水平及其与认知和社会行为的关系。】 复制标题 收藏 收藏
    DOI:2594 复制DOI
    作者列表:Alhowikan AM,-Ayadhi LA,Halepoto DM
    BACKGROUND & AIMS: OBJECTIVE:To investigate the secretagogin (SCGN) plasma levels in children with autism spectrum disorder (ASD) compared to age and gender-matched healthy control, and its association with cognitive and social behaviors by using childhood autism rating scale (CARS) and social responsiveness scale (SRS). STUDY DESIGN:Case-control study. PLACE AND DURATION OF STUDY:Autism Research and Treatment Center, Al-Amodi Autism Research Chair, Department of Physiology, Faculty of Medicine, King Khalid University Hospital, King Saud University, Riyadh, Saudi Arabia, from October 2015 to May 2016. METHODOLOGY:SCGN levels were determined in the plasma of thirty-seven (37) autistic children using enzyme-linked immunosorbent assay (ELISA), categorized as mild-moderate and severe as indicated by their CARS scores and compared with thirty (30) age and gender-matched control samples. Correlation between SCGN levels and different cognitive and social behavior scales (CARS and SRS) was determined by Spearman's correlation coefficient (r). RESULTS:The results indicated that autistic children (n=37) had significantly (p= 0.005) lower plasma level of SCGN {45.7 (26.2) ng/ml [median (IQR)]} than those of healthy controls {n=30, 70.8 (48.6) ng/ml [median (IQR)]}. Children with severe (n=28, 76%) as well as mild to moderate autism (n=09, 24%) also exhibited significantly lower SCGN levels {47.5 (27) ng/ml [median (IQR)], p =0.014} and {45.7 (16.6) ng/ml [median (IQR)], p = 0.02)}, respectively than healthy controls {n=30, 70.8 (48.6) ng/ml [median (IQR)]}. However, there was no significant difference between the SCGN levels of children with mild to moderate and severe autism (p = 0.66). Spearman's correlation coefficient (r) was used to determine the relationships between SCGN levels and different variables (CARS, SRS). However, the results showed no significant correlation between SCGN and these scales. (CARS, r=-0.03, p=0.86; SRS, r=0.21, p=0.20). CONCLUSION:The low SCGN plasma levels in children with ASD probably indicate that SCGN might be implicated in the pathogenesis of autism. However, these data should be treated with caution until further investigations are performed using larger sample sizes to determine whether the decrease in plasma SCGN levels is a mere consequence of autism or it plays a pathogenic role in the disease.
    背景与目标:

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