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HLA Immune Function Genes in Autism. 自闭症患者的HLA免疫功能基因。
Pub Date : 2012-01-01 Epub Date: 2012-02-15 DOI: 10.1155/2012/959073
Anthony R Torres, Jonna B Westover, Allen J Rosenspire

The human leukocyte antigen (HLA) genes on chromosome 6 are instrumental in many innate and adaptive immune responses. The HLA genes/haplotypes can also be involved in immune dysfunction and autoimmune diseases. It is now becoming apparent that many of the non-antigen-presenting HLA genes make significant contributions to autoimmune diseases. Interestingly, it has been reported that autism subjects often have associations with HLA genes/haplotypes, suggesting an underlying dysregulation of the immune system mediated by HLA genes. Genetic studies have only succeeded in identifying autism-causing genes in a small number of subjects suggesting that the genome has not been adequately interrogated. Close examination of the HLA region in autism has been relatively ignored, largely due to extraordinary genetic complexity. It is our proposition that genetic polymorphisms in the HLA region, especially in the non-antigen-presenting regions, may be important in the etiology of autism in certain subjects.

6号染色体上的人类白细胞抗原(HLA)基因在许多先天性和适应性免疫反应中起着重要作用。HLA基因/单倍型也与免疫功能障碍和自身免疫性疾病有关。现在越来越明显的是,许多非抗原呈递HLA基因在自身免疫性疾病中起着重要作用。有趣的是,据报道,自闭症患者通常与HLA基因/单倍型相关,这表明HLA基因介导的免疫系统潜在失调。基因研究仅在少数受试者中成功地确定了导致自闭症的基因,这表明基因组还没有得到充分的研究。自闭症患者HLA区域的密切检查相对被忽视,很大程度上是由于异常的遗传复杂性。这是我们的主张,遗传多态性在HLA区域,特别是在非抗原呈递区,可能是重要的自闭症在某些科目的病因。
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引用次数: 48
Assessment and treatment in autism spectrum disorders: a focus on genetics and psychiatry. 自闭症谱系障碍的评估和治疗:遗传学和精神病学的焦点。
Pub Date : 2012-01-01 Epub Date: 2012-05-31 DOI: 10.1155/2012/242537
Merlin G Butler, Erin L Youngs, Jennifer L Roberts, Jessica A Hellings

Autism spectrum disorders (ASDs) are neurobehavioral disorders characterized by abnormalities in three behavioral domains including social interaction, impaired communication, and repetitive stereotypic behaviors. ASD affects approximately 1% of children and is on the rise with significant genetic mechanisms underlying these disorders. We review the current understanding of the role of genetic and metabolic factors contributing to ASD with the use of new genetic technology. Fifty percent is diagnosed with chromosomal abnormalities, small DNA deletions/duplications, single-gene conditions, or metabolic disturbances. Genetic evaluation is discussed along with psychiatric treatment and approaches for selection of medication to treat associated challenging behaviors or comorbidities seen in ASD. We emphasize the importance of prioritizing treatment based on target symptom clusters and in what order for individuals with ASD, as the treatment may vary from patient to patient.

自闭症谱系障碍(asd)是一种神经行为障碍,其特征是在三个行为领域出现异常,包括社会互动、沟通障碍和重复刻板行为。自闭症谱系障碍影响了大约1%的儿童,并且随着这些疾病背后的重要遗传机制的增加,自闭症谱系障碍的发病率正在上升。我们回顾了目前对遗传和代谢因素在ASD中的作用的理解,并利用新的基因技术。50%的人被诊断为染色体异常、小DNA缺失/重复、单基因疾病或代谢紊乱。遗传评估与精神治疗以及治疗ASD相关挑战性行为或合并症的药物选择方法一起讨论。我们强调基于目标症状群和ASD个体的优先治疗的重要性,因为治疗可能因患者而异。
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引用次数: 21
Decreased levels of EGF in plasma of children with autism spectrum disorder. 自闭症谱系障碍儿童血浆中EGF水平降低。
Pub Date : 2012-01-01 Epub Date: 2012-03-05 DOI: 10.1155/2012/205362
Charity Onore, Judy Van de Water, Paul Ashwood

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder estimated to affect 1 in 110 children in the U.S., yet the pathology of this disorder is not fully understood. Abnormal levels of several growth factors have been demonstrated in adults with ASD, including epidermal growth factor (EGF) and hepatocyte growth factor (HGF). Both of these growth factors serve important roles in neurodevelopment and immune function. In this study, concentrations of EGF and HGF were assessed in the plasma of 49 children with ASD aged 2-4 years old and 31 typically developing controls of a similar age as part of the Autism Phenome Project (APP). Levels of EGF were significantly reduced in the ASD group compared to typically developing controls (P = 0.003). There were no significant differences in HGF levels in young children with ASD and typically developing controls. EGF plays an important role in regulating neural growth, proliferation, differentiation and migration, and reduced levels of this molecule may negatively impact neurodevelopment in young children with ASD.

自闭症谱系障碍(ASD)是一种神经发育障碍,据估计,在美国每110名儿童中就有1名受到影响,但这种疾病的病理尚不完全清楚。一些生长因子水平异常已经在成人ASD患者中得到证实,包括表皮生长因子(EGF)和肝细胞生长因子(HGF)。这两种生长因子在神经发育和免疫功能中都起着重要作用。在这项研究中,作为自闭症表型计划(APP)的一部分,研究人员对49名2-4岁的ASD儿童和31名年龄相近的正常发育对照组的血浆中EGF和HGF的浓度进行了评估。与正常发展的对照组相比,ASD组EGF水平显著降低(P = 0.003)。在患有ASD的幼儿和正常发育的对照组中,HGF水平没有显著差异。EGF在调节神经生长、增殖、分化和迁移中发挥重要作用,该分子水平的降低可能会对幼儿ASD的神经发育产生负面影响。
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引用次数: 26
Investigating the Relationship between Self-Injurious Behavior, Social Deficits, and Cooccurring Behaviors in Children and Adolescents with Autism Spectrum Disorder. 调查自闭症谱系障碍儿童和青少年的自伤行为、社交缺陷和共生行为之间的关系。
Pub Date : 2012-01-01 Epub Date: 2012-11-07 DOI: 10.1155/2012/156481
Paul Waters, Olive Healy

Research suggests that self-injurious behavior (SIB) is related to social deficits and cooccurring problem behaviors in children and adolescents with autism spectrum disorder. A sample of 95 participants with ASD was assessed on presence and frequency of SIB (Behavior Problems Inventory), social deficits (the Matson Evaluation of Social Skills with Youngsters-II) and cooccurring problem behaviors (ASD-Comorbidity-Child version). A model was created and tested to explain the relationship between these variables. Results showed that the model was acceptable in presenting the relationships between these variables. This information could be used to help predict which individuals are at risk of developing further cooccurring behavioral problems and determine risk markers for the development of social deficits.

研究表明,自伤行为(SIB)与自闭症谱系障碍儿童和青少年的社交缺陷和共生问题行为有关。研究人员对 95 名患有自闭症谱系障碍的参与者进行了抽样调查,评估他们是否存在自伤行为及其发生频率(行为问题量表)、社交能力缺陷(马森青少年社交能力评估-II)以及共生问题行为(自闭症谱系障碍-共病-儿童版)。为了解释这些变量之间的关系,我们建立并测试了一个模型。结果表明,该模型在呈现这些变量之间的关系方面是可以接受的。这些信息可用于帮助预测哪些人有可能进一步发展出并发行为问题,并确定发展社交障碍的风险标记。
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引用次数: 0
Meta-analysis of studies incorporating the interests of young children with autism spectrum disorders into early intervention practices. 将自闭症谱系障碍幼儿的兴趣纳入早期干预实践的研究荟萃分析。
Pub Date : 2012-01-01 Epub Date: 2012-05-14 DOI: 10.1155/2012/462531
Carl J Dunst, Carol M Trivette, Deborah W Hamby

Incorporating the interests and preferences of young children with autism spectrum disorders into interventions to promote prosocial behavior and decrease behavior excesses has emerged as a promising practice for addressing the core features of autism. The efficacy of interest-based early intervention practices was examined in a meta-analysis of 24 studies including 78 children 2 to 6 years of age diagnosed with autism spectrum disorders. Effect size analyses of intervention versus nonintervention conditions and high-interest versus low-interest contrasts indicated that interest-based intervention practices were effective in terms of increasing prosocial and decreasing aberrant child behavior. Additionally, interest-based interventions that focused on two of the three core features of autism spectrum disorders (poor communication, poor interpersonal relationships) were found most effective in influencing child outcomes. Implications for very early intervention are discussed in terms addressing the behavior markers of autism spectrum disorders before they become firmly established.

将自闭症谱系障碍幼儿的兴趣和偏好纳入干预措施,以促进亲社会行为和减少行为过度,已成为解决自闭症核心特征的一种有希望的实践。基于兴趣的早期干预实践的效果在24项研究的荟萃分析中进行了检验,其中包括78名2至6岁被诊断为自闭症谱系障碍的儿童。干预与非干预条件、高兴趣与低兴趣对比的效应量分析表明,基于兴趣的干预实践在增加亲社会和减少异常儿童行为方面是有效的。此外,研究发现,关注自闭症谱系障碍三个核心特征中的两个(沟通不良、人际关系不良)的基于兴趣的干预措施在影响儿童结局方面最为有效。在自闭症谱系障碍的行为标志确立之前,讨论了早期干预的意义。
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引用次数: 35
Meditation as a potential therapy for autism: a review. 冥想作为自闭症的一种潜在疗法:综述。
Pub Date : 2012-01-01 Epub Date: 2012-06-04 DOI: 10.1155/2012/835847
Sonia Sequeira, Mahiuddin Ahmed

Autism is a chronic neurodevelopmental disorder of unknown cause that affects approximately 1-3 percent of children and four times more boys than girls. Its prevalence is global and its social impact is devastating. In autism, the brain is unable to process sensory information normally. Instead, simple stimuli from the outside world are experienced as overwhelmingly intense and strain the emotional centers of the brain. A stress response to the incoming information is initiated that destabilizes cognitive networks and short-circuits adequate behavioral output. As a result, the child is unable to respond adequately to stimulation and initiate social behavior towards family, friends, and peers. In addition, these children typically face immune-digestive disorders that heighten social fears, anxieties, and internal conflicts. While it is critical to treat the physical symptoms, it is equally vital to offer an evidence-based holistic solution that harmonizes both their emotional and physical well-being as they move from childhood into adult life. Here, we summarize evidence from clinical studies and neuroscience research that suggests that an approach built on yogic principles and meditative tools is worth pursuing. Desired outcomes include relief of clinical symptoms of the disease, greater relaxation, and facilitated expression of feelings and skills, as well as improved family and social quality of life.

自闭症是一种原因不明的慢性神经发育障碍,影响了大约1- 3%的儿童,男孩是女孩的四倍。它的普遍性是全球性的,其社会影响是毁灭性的。自闭症患者的大脑无法正常处理感觉信息。相反,来自外部世界的简单刺激被体验为压倒性的强烈,并使大脑的情感中心紧张。对传入信息的应激反应被启动,破坏了认知网络的稳定,使适当的行为输出短路。因此,孩子不能对刺激做出充分的反应,也不能主动对家人、朋友和同伴做出社会行为。此外,这些儿童通常面临免疫消化障碍,这加剧了社会恐惧、焦虑和内部冲突。虽然治疗身体症状至关重要,但同样重要的是,提供一个以证据为基础的整体解决方案,在他们从童年进入成年生活的过程中协调他们的情绪和身体健康。在这里,我们总结了临床研究和神经科学研究的证据,这些证据表明,建立在瑜伽原则和冥想工具之上的方法值得追求。期望的结果包括缓解疾病的临床症状,更放松,促进情感和技能的表达,以及改善家庭和社会生活质量。
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引用次数: 21
The development of executive function in autism. 自闭症患者执行功能的发展。
Pub Date : 2012-01-01 Epub Date: 2012-07-05 DOI: 10.1155/2012/146132
Elizabeth Pellicano

Autism is a common and often highly debilitating neurodevelopmental condition, whose core behavioral features are believed to be rooted in disrupted neurocognitive processes, including especially "executive function." Researchers have predominantly focused upon understanding the putative causal relationship between difficulties in EF and autistic symptomatology. This paper suggests, however, that the effects of individual differences in EF should be more far-reaching, playing a significant part in the real-life outcomes of individuals with autism, including their social competence, everyday adaptive behavior, and academic achievement. It further considers the nature of the EF-outcome relationship, including the possible determinants of individual differences in EF, and makes several recommendations for future research.

自闭症是一种常见的神经发育性疾病,通常会严重削弱患者的能力,其核心行为特征被认为源于神经认知过程的紊乱,尤其包括 "执行功能"。研究人员主要致力于了解执行功能困难与自闭症症状之间的因果关系。然而,本文认为,执行功能个体差异的影响更为深远,对自闭症患者的现实生活结果,包括社交能力、日常适应行为和学业成绩,都有重要影响。本研究进一步探讨了 EF 与结果之间关系的本质,包括 EF 个体差异的可能决定因素,并对未来研究提出了若干建议。
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引用次数: 0
Gait symmetry in children with autism. 自闭症儿童的步态对称性。
Pub Date : 2012-01-01 Epub Date: 2012-05-20 DOI: 10.1155/2012/576478
Victoria L Chester, Matthew Calhoun

Most studies examining gait asymmetry have focused on infants and toddlers and have tended to use subjective methods of evaluating movement. No previous studies have examined gait symmetry in older children with autism using objective motion capture systems. The purpose of this paper was to quantify gait symmetry in children with autism versus age-matched controls. Fourteen children with autism (N = 14) and twenty-two (N = 22) age, height, and weight-matched controls participated in the study. An eight camera Vicon motion capture system and four Kistler force plates were used to compute temporal-spatial parameters and symmetry indices during walking. Group differences in these measures were tested using MANOVAs. No significant differences between the autism and control group were found for any of the temporal-spatial measures or symmetry indices. Therefore, results suggest that children with autism demonstrate typical symmetry or interlimb movement during gait. Further research is needed to examine the use of different gait inputs to the symmetry indices (e.g., joint angles and moments). A greater awareness of the movement patterns associated with autism may increase our understanding of this disorder and have important implications for treatment planning.

大多数检查步态不对称的研究都集中在婴儿和幼儿身上,并且倾向于使用主观的方法来评估运动。以前还没有研究使用客观动作捕捉系统检查大龄自闭症儿童的步态对称性。本文的目的是量化自闭症儿童与年龄匹配对照的步态对称性。14名自闭症儿童(N = 14)和22名年龄、身高和体重匹配的对照组(N = 22)参加了这项研究。采用八摄像头Vicon运动捕捉系统和四个Kistler力板计算行走过程的时空参数和对称性指标。使用方差分析(manova)检验这些测量的组间差异。自闭症组和对照组在任何时空测量或对称性指标上都没有发现显著差异。因此,结果表明自闭症儿童在步态中表现出典型的对称性或肢间运动。需要进一步的研究来检验不同步态输入对对称指数(如关节角度和力矩)的使用。对与自闭症相关的运动模式的更多认识可能会增加我们对这种疾病的理解,并对治疗计划具有重要意义。
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引用次数: 49
Telehealth for expanding the reach of early autism training to parents. 远程保健,扩大早期自闭症培训对父母的影响。
Pub Date : 2012-01-01 Epub Date: 2012-11-22 DOI: 10.1155/2012/121878
Laurie A Vismara, Gregory S Young, Sally J Rogers

Although there is consensus that parents should be involved in interventions designed for young children with autism spectrum disorder (ASD), parent participation alone does not ensure consistent, generalized gains in children's development. Barriers such as costly intervention, time-intensive sessions, and family life may prevent parents from using the intervention at home. Telehealth integrates communication technologies to provide health-related services at a distance. A 12 one-hour per week parent intervention program was tested using telehealth delivery with nine families with ASD. The goal was to examine its feasibility and acceptance for promoting child learning throughout families' daily play and caretaking interactions at home. Parents became skilled at using teachable moments to promote children's spontaneous language and imitation skills and were pleased with the support and ease of telehealth learning. Preliminary results suggest the potential of technology for helping parents understand and use early intervention practices more often in their daily interactions with children.

虽然人们一致认为父母应该参与为患有自闭症谱系障碍(ASD)的幼儿设计的干预措施,但仅父母参与并不能确保儿童发展的一致、普遍的收益。昂贵的干预、耗时的治疗和家庭生活等障碍可能会阻止父母在家中使用干预措施。远程保健综合了通信技术,在远距离提供与健康有关的服务。通过远程医疗服务,对9个自闭症家庭进行了12个每周一小时的家长干预项目的测试。我们的目标是检验在家庭日常游戏和照顾互动中促进儿童学习的可行性和可接受性。家长们熟练地利用可教时刻来促进儿童自发的语言和模仿技能,并对远程医疗学习的支持和便利感到满意。初步结果表明,技术有可能帮助父母在与孩子的日常互动中更多地理解和使用早期干预措施。
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引用次数: 200
Experiences of siblings of individuals with autism spectrum disorders. 自闭症谱系障碍患者的兄弟姐妹的经历。
Pub Date : 2012-01-01 Epub Date: 2012-04-10 DOI: 10.1155/2012/949586
Maureen E Angell, Hedda Meadan, Julia B Stoner

The purpose of this study was to explore the experiences of siblings of individuals with autism spectrum disorders (ASDs) and identify their self-reported support needs. We conducted in-person semi-structured interviews with 12 siblings aged 7 to 15 of children aged 6 to 15 with ASDs. Employing a qualitative collective case study research method, we conducted cross-case analyses to address our research questions. Three major themes emerged: (a) descriptions of the sibling subsystem (b) cohesion between and among the siblings, and (c) adaptability of the participant siblings to having family members with ASDs. Discussion of these findings and recommendations for future research contributes to the existing literature on siblings of children with disabilities.

本研究的目的是探讨自闭症谱系障碍(asd)患者的兄弟姐妹的经历,并确定他们自我报告的支持需求。我们对12个7到15岁的6到15岁的自闭症儿童进行了面对面的半结构化访谈。采用定性的集体案例研究方法,我们进行了跨案例分析来解决我们的研究问题。出现了三个主要主题:(a)兄弟姐妹子系统的描述;(b)兄弟姐妹之间和兄弟姐妹之间的凝聚力;(c)参与研究的兄弟姐妹对家庭成员患有自闭症的适应性。对这些发现的讨论和对未来研究的建议有助于现有的关于残疾儿童兄弟姐妹的文献。
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引用次数: 79
期刊
Autism Research and Treatment
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