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Investigating the Evidence of Behavioral, Cognitive, and Psychiatric Endophenotypes in Autism: A Systematic Review. 调查自闭症的行为、认知和精神内表型证据:系统回顾
Pub Date : 2017-01-01 Epub Date: 2017-07-05 DOI: 10.1155/2017/6346912
Kavita Ruparelia, Karim Manji, Amina Abubakar, Charles R Newton

Substantial evidence indicates that parents of autistic individuals often display milder forms of autistic traits referred to as the broader autism phenotype (BAP). To determine if discrete endophenotypes of autism can be identified, we reviewed the literature to assess the evidence of behavioral, cognitive, and psychiatric profiles of the BAP. A systematic review was conducted using EMBASE, MEDLINE, PsycINFO, PsycEXTRA, and Global Health. Sixty papers met our inclusion criteria and results are discussed according to the proportion of studies that yield significant deficits per domain. The behavioral, cognitive, and psychiatric endophenotypes in parents of autistic probands are still not clarified; however, evidence suggests mild social/communication deficits, rigid/aloof personality traits, and pragmatic language difficulties as the most useful sociobehavioral candidate endophenotype traits. The existence of deficits in the cognitive domain does suggest familial vulnerability for autism. Furthermore, increased depressed mood and anxiety can also be useful markers; however, findings should be interpreted with caution because of the small number of studies in such heterogeneously broad domains and several methodological limitations.

大量证据表明,自闭症患者的父母通常会表现出较轻的自闭症特征,这被称为广义自闭症表型(BAP)。为了确定能否识别自闭症的离散内表型,我们回顾了相关文献,以评估 BAP 的行为、认知和精神特征的证据。我们使用 EMBASE、MEDLINE、PsycINFO、PsycEXTRA 和 Global Health 进行了系统性综述。有 60 篇论文符合我们的纳入标准,我们将根据每个领域产生显著缺陷的研究比例对结果进行讨论。自闭症疑似患者父母的行为、认知和精神内型仍未明确;但有证据表明,轻度社交/沟通障碍、刻板/冷漠的人格特质和实用性语言障碍是最有用的社会行为候选内型特征。认知领域缺陷的存在确实暗示了自闭症的家族易感性。此外,抑郁情绪和焦虑的增加也是有用的标记;但是,由于在如此广泛的异质性领域进行的研究数量较少,且存在一些方法学上的局限性,因此在解释研究结果时应谨慎。
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引用次数: 0
A Preliminary Investigation of a Specialized Music Therapy Model for Children with Disabilities Delivered in a Classroom Setting 残疾儿童课堂音乐治疗模式的初步研究
Pub Date : 2016-11-23 DOI: 10.1155/2016/1284790
Jenna L Mendelson, Y. White, L. Hans, Richard Adebari, L. Schmid, Jan Riggsbee, Alison Goldsmith, B. Ozler, Kristen Buehne, Sarah Jones, Jennifer Shapleton, G. Dawson
Music therapy is gaining popularity as an intervention strategy for children with developmental disabilities, including autism spectrum disorder (ASD). This study was a pilot investigation of a classroom-based music-based intervention, Voices Together®, for improving communication skills in children with ASD and children with intellectual disabilities. Four local public elementary school special education classrooms, serving 5 children with a classification of autistic disorder and 32 children with intellectual disability without autism, were randomly selected to receive one of two levels of exposure to Voices Together music therapy: “long-term” (15 weeks beginning in January 2015 (Time 1), n = 14) or “short-term” (7 weeks beginning 7 weeks later in February (Time 2), n = 17). Using observational ratings, investigators reliably scored participants live in terms of their level of verbal responsiveness to prompts during three songs featured each week of the program. Both groups demonstrated increases in verbal responses over time; however, only the long-term group demonstrated significant within-group increases. Preliminary findings suggest that music therapy delivered in a classroom in 45-minute weekly sessions for 15 weeks can promote improvements in verbal responsiveness among individuals with autism and other developmental disabilities. Findings warrant further investigation into the efficacy of classroom-based music therapy programs.
音乐疗法作为一种治疗包括自闭症谱系障碍(ASD)在内的发育障碍儿童的干预策略越来越受欢迎。本研究是一项以课堂为基础的音乐干预的试点调查,voice Together®,旨在提高自闭症儿童和智力残疾儿童的沟通技巧。4个当地公立小学特殊教育教室,为5名自闭症儿童和32名无自闭症的智障儿童提供服务,随机选择接受两种水平的“一起发声”音乐治疗:“长期”(从2015年1月开始的15周(时间1),n = 14)或“短期”(从7周后的2月开始的7周(时间2),n = 17)。通过观察性评分,调查人员根据参与者对节目每周播放的三首歌曲提示的口头反应水平,对他们进行了可靠的评分。随着时间的推移,两组人的语言反应都有所增加;然而,只有长期用药组表现出显著的组内增高。初步研究结果表明,在15周的时间里,在教室里每周进行45分钟的音乐治疗,可以提高自闭症和其他发育障碍患者的语言反应能力。研究结果支持进一步调查以课堂为基础的音乐治疗项目的效果。
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引用次数: 19
Calcium and Vitamin D Supplement Prescribing Practices among Providers Caring for Children with Autism Spectrum Disorders: Are We Addressing Bone Health? 在照顾自闭症谱系障碍儿童的提供者中,钙和维生素D补充剂的处方实践:我们在关注骨骼健康吗?
Pub Date : 2016-03-06 DOI: 10.1155/2016/6763205
Shylaja Srinivasan, J. O'Rourke, Sara Bersche Golas, A. Neumeyer, M. Misra
Children with autism spectrum disorders (ASD) have several risk factors for low bone mineral density. The gluten-free, casein-free (GFCF) diet is a complementary therapy sometimes used in ASD that raises concerns for the adequacy of calcium and vitamin D intake. This study evaluated the prescribing practices of calcium and vitamin D supplements and the practice of checking 25-hydroxy vitamin D (25(OH)D) levels by providers in 100 children with ASD, 50 of whom were on the GFCF diet. Fifty-two percent and 46% of children on the GFCF diet were on some form of vitamin D and calcium supplements, respectively, compared to 18% and 14% of those not on this diet. Twenty-four percent of children in the GFCF group had a documented 25(OH)D level compared to none in the non-GFCF group. The data highlight a gap in calcium and vitamin D supplement prescribing practices among providers caring for children with ASD as well as a gap in the practice of checking 25(OH)D levels.
患有自闭症谱系障碍(ASD)的儿童骨密度低有几个危险因素。无麸质,无酪蛋白(GFCF)饮食是一种辅助疗法,有时用于ASD,引起对钙和维生素D摄入量是否充足的关注。这项研究评估了100名ASD儿童的钙和维生素D补充剂的处方做法,以及提供者检查25-羟基维生素D (25(OH)D)水平的做法,其中50名儿童采用GFCF饮食。在GFCF饮食组中,分别有52%和46%的儿童服用了某种形式的维生素D和钙补充剂,而没有服用这种饮食的儿童中,这一比例分别为18%和14%。GFCF组中24%的儿童有记录的25(OH)D水平,而非GFCF组中没有。这些数据强调了在照顾自闭症儿童的提供者中,钙和维生素D补充剂处方实践的差距,以及检查25(OH)D水平的实践的差距。
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引用次数: 11
The Association between Adult Participation and the Engagement of Preschoolers with ASD 成人参与与学龄前自闭症儿童参与之间的关系
Pub Date : 2016-02-24 DOI: 10.1155/2016/6029837
Ann M. Sam, Stephanie S. Reszka, B. Boyd, Yi Pan, K. Hume, S. Odom
The ability for a child to engage in the classroom is associated with better academic outcomes. Yet, there is limited information on how child characteristics of autism and adult behavior impact engagement. This study examined (1) the pattern of adult participation and child engagement in preschool classrooms that serve children with ASD, (2) the associations between child engagement and adult participation, and (3) how characteristics of ASD (autism severity, language ability, and challenging behavior) moderate the relationship between adult participation and child engagement. Overall, children were less likely to be engaged when adults were actively or passively participating with them. Moderators impacted this relationship. Children with higher levels of autism severity were more likely to be engaged when adults were actively or passively participating with them. Similarly, children with lower language abilities were more likely to be engaged when adults were actively or passively participating with them. Finally, children with higher levels of challenging behaviors were less likely to be engaged when adults were actively or passively participating with them. These findings have important implications for how adults can best support the engagement of children with ASD.
孩子参与课堂的能力与更好的学习成绩有关。然而,关于自闭症儿童特征和成人行为如何影响参与的信息有限。本研究考察了(1)成人参与和儿童参与的模式,(2)儿童参与和成人参与之间的关联,以及(3)ASD特征(自闭症严重程度、语言能力和挑战行为)如何调节成人参与和儿童参与之间的关系。总的来说,当成年人主动或被动地与他们一起参与时,孩子们不太可能参与其中。版主影响了这种关系。自闭症严重程度较高的儿童在成人主动或被动参与时更有可能投入。同样,当成年人主动或被动地参与到孩子们的活动中时,语言能力较低的孩子更有可能投入其中。最后,当成年人主动或被动地参与时,具有较高挑战性行为水平的儿童不太可能参与其中。这些发现对于成年人如何最好地支持自闭症儿童的参与具有重要意义。
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引用次数: 7
Factor Structure, Internal Consistency, and Screening Sensitivity of the GARS-2 in a Developmental Disabilities Sample 发育障碍样本中GARS-2的因子结构、内部一致性和筛选敏感性
Pub Date : 2016-02-15 DOI: 10.1155/2016/8243079
Martin A. Volker, Elissa H. Dua, C. Lopata, M. Thomeer, J. Toomey, A. Smerbeck, Jonathan D. Rodgers, Joshua R. Popkin, Andrew T. Nelson, Gloria K. Lee
The Gilliam Autism Rating Scale-Second Edition (GARS-2) is a widely used screening instrument that assists in the identification and diagnosis of autism. The purpose of this study was to examine the factor structure, internal consistency, and screening sensitivity of the GARS-2 using ratings from special education teaching staff for a sample of 240 individuals with autism or other significant developmental disabilities. Exploratory factor analysis yielded a correlated three-factor solution similar to that found in 2005 by Lecavalier for the original GARS. Though the three factors appeared to be reasonably consistent with the intended constructs of the three GARS-2 subscales, the analysis indicated that more than a third of the GARS-2 items were assigned to the wrong subscale. Internal consistency estimates met or exceeded standards for screening and were generally higher than those in previous studies. Screening sensitivity was .65 and specificity was .81 for the Autism Index using a cut score of 85. Based on these findings, recommendations are made for instrument revision.
Gilliam自闭症评定量表-第二版(gar -2)是一种广泛使用的筛查工具,有助于自闭症的识别和诊断。本研究的目的是利用特殊教育教师对240名自闭症或其他显著发育障碍患者的评分,考察gar -2的因素结构、内部一致性和筛选敏感性。探索性因素分析产生了一个相关的三因素解决方案,类似于2005年Lecavalier对原始GARS的发现。虽然这三个因素似乎与三个gar -2子量表的预期结构合理一致,但分析表明,超过三分之一的gar -2项目被分配到错误的子量表。内部一致性估计达到或超过筛查标准,通常高于以前的研究。自闭症指数的筛查敏感性为0.65,特异性为0.81,切分值为85。根据这些发现,对文书的修订提出了建议。
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引用次数: 17
An Analysis of Canadian Institute for Health Research Funding for Research on Autism Spectrum Disorder 加拿大卫生研究所资助自闭症谱系障碍研究的分析
Pub Date : 2016-02-10 DOI: 10.1155/2016/8106595
R. Deonandan, E. Y. Liu, B. Kolisnyk, A. Konkle
We examined patterns of Canadian Institute for Health Research (CIHR) funding on autism spectrum disorder (ASD) research. From 1999 to 2013, CIHR funded 190 ASD grants worth $48 million. Biomedical research received 43% of grants (46% of dollars), clinical research 27% (41%), health services 10% (7%), and population health research 8% (3%). The greatest number of grants was given in 2009, but 2003 saw the greatest amount. Funding is clustered in a handful of provinces and institutions, favouring biomedical research and disfavouring behavioural interventions, adaptation, and institutional response. Preference for biomedical research may be due to the detriment of clinical research.
我们检查了加拿大卫生研究所(CIHR)资助自闭症谱系障碍(ASD)研究的模式。从1999年到2013年,CIHR资助了190个ASD项目,价值4800万美元。生物医学研究获得43%的资助(46%),临床研究27%(41%),卫生服务10%(7%),人口健康研究8%(3%)。2009年是获得资助最多的一年,但2003年是最多的一年。资金集中在少数几个省和机构,有利于生物医学研究,不利于行为干预、适应和机构反应。对生物医学研究的偏爱可能是由于对临床研究的损害。
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引用次数: 1
Illness Severity, Social and Cognitive Ability, and EEG Analysis of Ten Patients with Rett Syndrome Treated with Mecasermin (Recombinant Human IGF-1) Mecasermin(重组人IGF-1)治疗10例Rett综合征患者病情严重程度、社会认知能力及脑电图分析
Pub Date : 2016-01-26 DOI: 10.1155/2016/5073078
G. Pini, L. Congiu, A. Benincasa, Pietro DiMarco, S. Bigoni, A. Dyer, Niall Mortimer, Andrea Della-Chiesa, Seán O’Leary, R. McNamara, K. Mitchell, M. Gill, D. Tropea
Rett Syndrome (RTT) is a severe neurodevelopmental disorder characterized by an apparently normal development followed by an arrest and subsequent regression of cognitive and psychomotor abilities. At present, RTT has no definitive cure and the treatment of RTT represents a largely unmet clinical need. Following partial elucidation of the underlying neurobiology of RTT, a new treatment has been proposed, Mecasermin (recombinant human Insulin-Like Growth Factor 1), which, in addition to impressive evidence from preclinical murine models of RTT, has demonstrated safety in human studies of patients with RTT. The present clinical study examines the disease severity as assessed by clinicians (International Scoring System: ISS), social and cognitive ability assessed by two blinded, independent observers (RSS: Rett Severity Score), and changes in brain activity (EEG) parameters of ten patients with classic RTT and ten untreated patients matched for age and clinical severity. Significant improvement in both the ISS (p = 0.0106) and RSS (p = 0.0274) was found in patients treated with IGF1 in comparison to untreated patients. Analysis of the novel RSS also suggests that patients treated with IGF1 have a greater endurance to social and cognitive testing. The present clinical study adds significant preliminary evidence for the use of IGF-1 in the treatment of RTT and other disorders of the autism spectrum.
Rett综合征(RTT)是一种严重的神经发育障碍,其特征是认知和精神运动能力的停止和随后的退化。目前,RTT没有明确的治愈方法,RTT的治疗在很大程度上代表了未满足的临床需求。在部分阐明RTT的潜在神经生物学之后,一种新的治疗方法被提出,Mecasermin(重组人胰岛素样生长因子1),除了来自RTT临床前小鼠模型的令人印象深刻的证据外,还在RTT患者的人类研究中证明了安全性。目前的临床研究检查了由临床医生评估的疾病严重程度(国际评分系统:ISS),由两位盲法独立观察者评估的社会和认知能力(RSS: Rett严重程度评分),以及10例经典RTT患者和10例年龄和临床严重程度相匹配的未治疗患者的脑活动(EEG)参数的变化。与未接受IGF1治疗的患者相比,接受IGF1治疗的患者ISS (p = 0.0106)和RSS (p = 0.0274)均有显著改善。对新型RSS的分析还表明,接受IGF1治疗的患者对社会和认知测试有更大的耐力。目前的临床研究为使用IGF-1治疗RTT和其他自闭症谱系障碍提供了重要的初步证据。
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引用次数: 48
Theory of Mind Indexes the Broader Autism Phenotype in Siblings of Children with Autism at School Age 心理理论在学龄自闭症儿童兄弟姐妹中更广泛的自闭症表型指标
Pub Date : 2016-01-10 DOI: 10.1155/2016/6309189
Tawny Tsang, K. Gillespie-Lynch, T. Hutman
Subclinical variants of the social-communicative challenges and rigidity that define autism spectrum disorder (ASD) are known as the broader autism phenotype (BAP). The BAP has been conceptualized categorically (as specific to a subset of relatives of individuals with ASD) and dimensionally (as continuously distributed within the general population). The current study examined the compatibility of these two approaches by assessing associations among autism symptoms and social-communicative skills in young school-age children with ASD, children who have a sibling with ASD, and children without a sibling with ASD. Autism symptoms were associated with reduced Theory of Mind (ToM), adaptive skills, cognitive empathy, and language skills across the full sample. Reduced ToM was a core aspect of the BAP in the current sample regardless of whether the BAP was defined categorically (in terms of siblings of children with ASD who exhibited atypical developmental) or dimensionally (in terms of associations with autism symptoms across the entire sample). Early language skills predicted school-age ToM. Findings support the compatibility of categorical and dimensional approaches to the BAP, highlight reduced ToM as a core aspect of the school-age BAP, and suggest that narrative-based approaches to promoting ToM may be beneficial for siblings of children with ASD.
定义自闭症谱系障碍(ASD)的社会交际挑战和僵化的亚临床变异被称为更广泛的自闭症表型(BAP)。BAP已经在分类上(作为特定于ASD个体的一小部分亲属)和维度上(作为在一般人群中连续分布)概念化。目前的研究通过评估自闭症症状和社交技能之间的联系来检验这两种方法的兼容性,这些儿童包括患有自闭症的学龄儿童、有兄弟姐妹患有自闭症的儿童和没有兄弟姐妹患有自闭症的儿童。在整个样本中,自闭症症状与心理理论(ToM)、适应技能、认知同理心和语言技能的降低有关。在当前的样本中,降低的ToM是BAP的一个核心方面,无论BAP是被分类地定义(就表现出非典型发育的ASD儿童的兄弟姐妹而言)还是在维度上定义(就与整个样本中的自闭症症状的关联而言)。早期的语言技能预示着学龄ToM。研究结果支持了分类和维度方法对BAP的兼容性,强调了ToM的减少是学龄BAP的核心方面,并建议基于叙述的方法来促进ToM可能对ASD儿童的兄弟姐妹有益。
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引用次数: 9
What Do Parents Think about Chromosomal Microarray Testing? A Qualitative Report from Parents of Children with Autism Spectrum Disorders. 家长如何看待染色体微阵列检测?自闭症谱系障碍儿童家长的定性报告。
Pub Date : 2016-01-01 Epub Date: 2016-06-20 DOI: 10.1155/2016/6852539
Lei Xu, Linda Crane Mitchell, Alice R Richman, Kaitlyn Clawson

Background. Chromosomal Microarray Analysis (CMA) is increasingly utilized to detect copy number variants among children and families affected with autism spectrum disorders (ASD). However, CMA is controversial due to possible ambiguous test findings, uncertain clinical implications, and other social and legal issues related to the test. Methods. Participants were parents of children with ASD residing in the North Eastern region of North Carolina, USA. We conducted individual, face-to-face interviews with 45 parents and inquired about their perceptions of CMA. Results. Three major themes dominated parents' perceptions of CMA. None of the parents had ever heard of the test before and the majority of the parents postulated positive attitudes toward the test. Parents' motivations in undergoing the test were attributed to finding a potential cause of ASD, to being better prepared for having another affected child, and to helping with future reproductive decisions. Perceived barriers included the cost of testing, risk/pain of CMA testing, and fear of test results. Conclusion. This study contributes to the understanding of psychosocial aspects and cultural influences towards adoption of genetic testing for ASD in clinical practice. Genetic education can aid informed decision-making related to CMA genetic testing among parents of children with ASD.

背景。染色体微阵列分析(CMA)越来越多地用于检测自闭症谱系障碍(ASD)儿童和家庭的拷贝数变异。然而,由于可能存在模棱两可的检测结果、不确定的临床意义以及与检测相关的其他社会和法律问题,CMA存在争议。方法。参与者是居住在美国北卡罗来纳州东北部地区的自闭症儿童的父母。我们对45位家长进行了面对面的访谈,并询问了他们对CMA的看法。结果。三大主题主导了家长对CMA的看法。没有一个家长以前听说过这个测试,大多数家长对这个测试持积极态度。父母进行测试的动机被认为是为了找到自闭症的潜在原因,为生下另一个受自闭症影响的孩子做更好的准备,以及帮助他们做出未来的生育决定。感知到的障碍包括测试成本、CMA测试的风险/痛苦以及对测试结果的恐惧。结论。本研究有助于理解社会心理方面和文化对临床实践中采用ASD基因检测的影响。基因教育可以帮助自闭症儿童的父母做出与CMA基因检测相关的明智决策。
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引用次数: 13
The Effects of Rhythm and Robotic Interventions on the Imitation/Praxis, Interpersonal Synchrony, and Motor Performance of Children with Autism Spectrum Disorder (ASD): A Pilot Randomized Controlled Trial 节奏和机器人干预对自闭症谱系障碍(ASD)儿童模仿/实践、人际同步和运动表现的影响:一项随机对照试验
Pub Date : 2015-12-17 DOI: 10.1155/2015/736516
S. Srinivasan, M. Kaur, Isabel K. Park, T. Gifford, K. L. Marsh, A. Bhat
We assessed the effects of three interventions, rhythm, robotic, and standard-of-care, on the imitation/praxis, interpersonal synchrony, and overall motor performance of 36 children with Autism Spectrum Disorder (ASD) between 5 and 12 years of age. Children were matched on age, level of functioning, and services received, prior to random assignment to one of the three groups. Training was provided for 8 weeks with 4 sessions provided each week. We assessed generalized changes in motor skills from the pretest to the posttest using a standardized test of motor performance, the Bruininks-Oseretsky Test of Motor Proficiency, 2nd edition (BOT-2). We also assessed training-specific changes in imitation/praxis and interpersonal synchrony during an early and a late session. Consistent with the training activities practiced, the rhythm and robot groups improved on the body coordination composite of the BOT-2, whereas the comparison group improved on the fine manual control composite of the BOT-2. All three groups demonstrated improvements in imitation/praxis. The rhythm and robot groups also showed improved interpersonal synchrony performance from the early to the late session. Overall, socially embedded movement-based contexts are valuable in promoting imitation/praxis, interpersonal synchrony, and motor performance and should be included within the standard-of-care treatment for children with ASD.
我们评估了节奏、机器人和标准护理三种干预措施对36名5至12岁自闭症谱系障碍(ASD)儿童的模仿/实践、人际同步和整体运动表现的影响。在随机分配到三组中的一组之前,儿童根据年龄、功能水平和接受的服务进行匹配。培训为期8周,每周4节。我们使用一种标准化的运动表现测试,即Bruininks-Oseretsky运动能力测试,第二版(BOT-2)来评估运动技能从测试前到测试后的普遍变化。我们还评估了在早期和后期训练中模仿/实践和人际同步的特定训练变化。与所练习的训练活动一致,节奏组和机器人组在BOT-2的身体协调综合能力上有所提高,而对照组在BOT-2的精细手控综合能力上有所提高。所有三组在模仿/实践方面都表现出了进步。节奏组和机器人组也表现出人际关系同步性能从早期到后期的改善。总的来说,社会嵌入的基于运动的环境在促进模仿/实践,人际同步和运动表现方面是有价值的,应该包括在ASD儿童的标准护理治疗中。
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引用次数: 83
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Autism Research and Treatment
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