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Parental age at birth, telomere length, and autism spectrum disorders in the UK Biobank cohort 英国生物库队列中父母的出生年龄、端粒长度和自闭症谱系障碍。
IF 5.3 2区 医学 Q1 BEHAVIORAL SCIENCES Pub Date : 2024-10-30 DOI: 10.1002/aur.3258
Qiaofeng Ye, Abner T. Apsley, Waylon J. Hastings, Laura Etzel, Craig Newschaffer, Idan Shalev

Older parental age at birth is associated with increased risk of autism spectrum disorders (ASD) in offspring. Independently, shorter telomere length (TL) has also been shown to be associated with ASD in children. However, older paternal age at birth, with or without controlling for maternal age, has been associated with longer TL, a seemingly contradictory finding. Here, we conducted a retrospective cohort study among participants in the UK Biobank to disentangle associations between leukocyte TL and ASD status in adults, and the potential moderation by parental age on adult offspring's TL. Participants with ASD diagnosis (N = 87) with a mean age of 46.0 (SD 4.4) years were matched to participants without ASD diagnosis (N = 870) based on age, sex, ethnicity, education, household income, and assessment center. No statistically significant differences were seen in TL between participants with and without ASD when parental age at birth was not considered. However, there was a significant interaction between ASD diagnostic status and parental age on participants' TL, such that older paternal or maternal age at birth was more strongly associated with longer TL in participants with ASD. This study suggests that the shortened TL observed in children with ASD in previous research may partially depend on parental age at birth. Future studies tracking TL attrition before ASD diagnosis are warranted to depict temporal associations and the interacting effects of parental age at birth and ASD status on TL across the lifespan.

父母出生时的年龄越大,后代患自闭症谱系障碍(ASD)的风险就越高。另外,较短的端粒长度(TL)也被证明与儿童自闭症谱系障碍有关。然而,无论是否控制了母亲的年龄,父亲出生时的年龄越大,端粒长度越长,这似乎是一个矛盾的发现。在此,我们对英国生物库(UK Biobank)的参与者进行了一项回顾性队列研究,以厘清成人白细胞TL与ASD状态之间的关系,以及父母年龄对成年后代TL的潜在调节作用。根据年龄、性别、种族、教育程度、家庭收入和评估中心,对确诊为 ASD 的参与者(N = 87)与未确诊为 ASD 的参与者(N = 870)进行配对,两者的平均年龄为 46.0 岁(SD 4.4)。如果不考虑父母的出生年龄,患有 ASD 和未患有 ASD 的参与者在 TL 方面没有明显的统计学差异。然而,ASD 诊断状态和父母年龄对参与者的颅骨长度有明显的交互作用,例如,有 ASD 的参与者出生时父亲或母亲的年龄越大,其颅骨长度越长。这项研究表明,以往研究中观察到的 ASD 儿童 TL 缩短可能部分取决于父母的出生年龄。未来有必要对ASD诊断前的TL损耗进行追踪研究,以描述时间上的关联以及父母的出生年龄和ASD状况对整个生命周期中TL的交互影响。
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引用次数: 0
Regional differences in autism and intellectual disability risk associated with cesarean section delivery 与剖腹产有关的自闭症和智障风险的地区差异。
IF 5.3 2区 医学 Q1 BEHAVIORAL SCIENCES Pub Date : 2024-10-17 DOI: 10.1002/aur.3247
Deborah A. Bilder, Scott Sullivan, Michelle M. Hughes, Susan Dalton, Jennifer Hall-Lande, Connor Nicholls, Amanda V. Bakian

Prior epidemiological studies investigating the association between delivery mode (i.e., vaginal birth and cesarean section [C-section]) and autism spectrum disorder (ASD) and intellectual disability (ID) risk have reported mixed findings. This study examined ASD and ID risks associated with primary and repeat C-section within diverse US regions. During even years 2000–2016, 8-years-olds were identified with ASD and/or ID and matched to birth records [ASD only (N = 8566, 83.6% male), ASD + ID (N = 3445, 79.5% male), ID only (N = 6158, 60.8% male)] using the Centers for Disease Control and Prevention's Autism and Developmental Disabilities Monitoring Network methodology. The comparison birth cohort (N = 1,456,914, 51.1% male) comprised all births recorded in the National Center for Health Statistics corresponding to birth years and counties in which surveillance occurred. C-section rates in the birth cohort demonstrated significant regional variation with lowest rates in the West. Overall models demonstrate increased odds of disability associated with primary and repeat C-section. Adjusted models, stratified by region, identified significant variability in disability likelihood associated with repeat C-section: increased odds occurred for all case groups in the Southeast, for ASD only and ID only in the Mid-Atlantic, and no case groups in the West. Regional variability in disability risk associated with repeat C-section coincides with differences in birth cohorts' C-section rates. This suggests increased likelihood of disability is not incurred by the procedure itself, but rather C-section serves as a proxy for exposures with regional variability that influence fetal development and C-section rates.

先前的流行病学研究调查了分娩方式(即阴道分娩和剖腹产)与自闭症谱系障碍(ASD)和智障(ID)风险之间的关系,结果不一。本研究考察了美国不同地区与初次剖腹产和重复剖腹产相关的自闭症谱系障碍(ASD)和智力障碍(ID)风险。利用美国疾病控制和预防中心的自闭症和发育障碍监测网络方法,在 2000-2016 年间,对 8 岁儿童进行了 ASD 和/或 ID 鉴定,并与出生记录[仅 ASD(N = 8566,83.6% 为男性)、ASD + ID(N = 3445,79.5% 为男性)、仅 ID(N = 6158,60.8% 为男性)]进行了匹配。对比出生队列(N = 1,456,914,51.1% 为男性)包括国家卫生统计中心记录的所有新生儿,这些新生儿与监测所在的出生年份和县相对应。出生队列中的剖腹产率存在明显的地区差异,西部地区的剖腹产率最低。总体模型显示,初次剖腹产和重复剖腹产导致残疾的几率增加。按地区分层的调整模型确定了与重复剖腹产相关的残疾可能性的显著差异:东南部的所有病例组、大西洋中部的仅 ASD 病例组和仅 ID 病例组以及西部的无病例组都出现了几率增加的情况。与重复剖腹产相关的残疾风险的地区差异与出生队列的剖腹产率差异相吻合。这表明,残疾可能性的增加并不是由剖腹产手术本身引起的,而是剖腹产作为一种暴露的替代物,其区域差异性影响着胎儿的发育和剖腹产率。
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引用次数: 0
Expanding perspectives on figurative language processing in autism spectrum disorder: A commentary on Lampri et al.'s review 拓展自闭症谱系障碍中形象语言处理的视角:对 Lampri 等人综述的评论。
IF 5.3 2区 医学 Q1 BEHAVIORAL SCIENCES Pub Date : 2024-10-16 DOI: 10.1002/aur.3249
Yun Tien, Lien-Chung Wei
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引用次数: 0
Response to Tien and Wei letter 对 Tien 和 Wei 信件的回复。
IF 5.3 2区 医学 Q1 BEHAVIORAL SCIENCES Pub Date : 2024-10-16 DOI: 10.1002/aur.3248
Maria Andreou, Theodoros Marinis, Stella Lampri, Eleni Peristeri
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引用次数: 0
Resilience and strengths in the Black autism community in the United States: A scoping review 美国黑人自闭症群体的复原力和优势:范围审查。
IF 5.3 2区 医学 Q1 BEHAVIORAL SCIENCES Pub Date : 2024-10-10 DOI: 10.1002/aur.3243
Amber M. Davis, Nicole A. Telfer, Jonet Artis, Oluwatobi Abubakare, Yolanda D. Keller-Bell, Carmen Caruthers, Desiree R. Jones, Nigel P. Pierce

Gaps in research knowledge pertaining to resiliency factors and strengths among the Black autism community, inclusive of autistic persons and their support system exist. A scoping review was conducted to further explore quantitative, qualitative, and mixed methods studies that investigate resiliency factors and related strengths in the Black autism community in the United States. A total of 436 articles were identified, with 28 studies included in the final review. Results demonstrated that (1) strengths of Black autistic persons across the life course have been disregarded in research; (2) Black caregiver advocacy, while common, is also a developmental process that can be supported by community-based interventions; (3) informal supports including family and friends play an instrumental role in supporting the well-under investigated being of Black parents of autistic children; and (4) spirituality is often endorsed by Black caregivers of autistic children, such as playing a role in acceptance of the autism diagnosis and with coping with difficult life situations. Research and practice implications are discussed.

有关黑人自闭症群体(包括自闭症患者及其支持系统)的复原因素和力量的研究知识存在空白。我们进行了一次范围审查,以进一步探索调查美国黑人自闭症群体复原力因素和相关优势的定量、定性和混合方法研究。共确定了 436 篇文章,其中 28 项研究被纳入最终评审。结果表明:(1)黑人自闭症患者在整个生命过程中的优势在研究中被忽视;(2)黑人照顾者的倡导虽然很常见,但也是一个发展过程,可以得到基于社区的干预措施的支持;(3)包括家人和朋友在内的非正式支持在支持自闭症儿童的黑人父母的良好调查方面发挥着重要作用;以及(4)自闭症儿童的黑人照顾者经常认可精神因素,例如在接受自闭症诊断和应对生活困境方面发挥作用。讨论了研究和实践的意义。
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引用次数: 0
Comparative effectiveness trial: Modular behavior approach for young autistic children compared to comprehensive behavioral intervention 比较有效性试验:针对自闭症幼儿的模块化行为疗法与综合行为干预的比较。
IF 5.3 2区 医学 Q1 BEHAVIORAL SCIENCES Pub Date : 2024-10-07 DOI: 10.1002/aur.3240
Cynthia Anderson, Samantha Hochheimer, Zachary Warren, Eric Butter, Susan L. Hyman, Hongyue Wang, Lisa Wallace, Lynne Levato, Ryan Martin, Kevin G. Stephenson, Megan Norris, Wynn Jacqueline, Tristram Smith, Cynthia R. Johnson

This 24-week single-blind trial tested a modular approach for young autistic children (MAYAC) that was delivered for fewer hours per week and modified based on child progress and parental input compared to comprehensive behavioral intervention treatment as usual (CBI, TAU). Participants were autistic children, ages 18–60 months of age. MAYAC was initially 5 h of intervention per week, one of which was parent training and the other four direct therapy focusing on social communication and engagement, but additional modules could be added for up to 10 h per week. Comprehensive behavior intervention was delivered for ≥15 h per week. Outcome measures included the Vineland Adaptive Behavior Scales; VABS, the Ohio Autism Clinical Improvement Scale – Autism Severity; OACIS – AS and the Pervasive Developmental Disorder Behavior Inventory – Parent; PDDBI-P. Implementation and parent satisfaction measures were also collected. Fifty-six children, mean age of 34 months, were randomized. Within-group analysis revealed significant improvements from baseline to week 24 for both MAYAC (p < 0.0001) and CBI, TAU (p < 0.0001) on the VABS. The noninferiority test was performed to test between group differences and MAYAC was not inferior to CBI, TAU on the VABS (p = 0.0144). On the OACIS – AS, 48.0% of MAYAC and 45.5% of CBI were treatment responders there were no significant changes on the PDDBI-P, for either group. Treatment fidelity was high for both groups (>95%) as was parent satisfaction. Findings from this small trial are promising and suggest MAYAC may be an alternative for some young autistic children and their families to CBI, TAU.

这项为期 24 周的单盲试验测试了针对自闭症幼儿的模块化方法(MAYAC),与常规综合行为干预治疗(CBI,TAU)相比,该方法每周授课时间较短,并根据儿童的进步和家长的意见进行修改。参与者为 18-60 个月大的自闭症儿童。MAYAC 最初每周干预 5 个小时,其中一个小时是家长培训,另外四个小时是直接治疗,重点是社交沟通和参与,但可以增加额外的模块,每周最多 10 个小时。综合行为干预每周≥15小时。结果测量包括维尼兰适应行为量表(Vineland Adaptive Behavior Scales; VABS)、俄亥俄自闭症临床改善量表(Ohio Autism Clinical Improvement Scale - Autism Severity; OACIS - AS)和广泛性发育障碍行为量表(Pervasive Developmental Disorder Behavior Inventory - Parent; PDDBI-P)。此外,还收集了实施情况和家长满意度测量结果。56 名平均年龄为 34 个月的儿童被随机分配。组内分析显示,从基线到第 24 周,MAYAC 和家长满意度均有明显改善(P 95%)。这项小规模试验的结果很有希望,表明对于一些自闭症幼儿及其家庭来说,MAYAC 可能是社区康复中心和自闭症儿童治疗中心之外的另一种选择。
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引用次数: 0
Eye-tracking training improves visuospatial working memory of children with attention-deficit/hyperactivity disorder and autism spectrum disorder 眼动跟踪训练可改善注意力缺陷/多动障碍和自闭症谱系障碍儿童的视觉空间工作记忆。
IF 5.3 2区 医学 Q1 BEHAVIORAL SCIENCES Pub Date : 2024-10-04 DOI: 10.1002/aur.3238
Agnes S. Chan, Pui-Ying Leung, Tiffany Wing-Yin Pang, Sophia L. Sze

Given the close connection between eye movement and frontal lobe functions and some evidence supporting the effect of eye-tracking training on enhancing cognitive performance mediated by the frontal lobe, this study aimed to explore if after-school eye-tracking training can improve the visuospatial working memory (VSWM) and cognitive flexibility performance in children with attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). This study is a non-randomized cluster trial. Forty children from eight primary schools were selected, half receiving eye-tracking training for 20 sessions over 9 months, while the other half served as a waitlist control. They were matched on demographic characteristics and baseline cognitive performance. Their VSWM and cognitive flexibility were assessed at the beginning and end of the study. Results showed that children who received eye-tracking training, but not those on a waitlist, exhibited significant improvements in the total score and working memory span of the VSWM tests, and the correct responses in cognitive flexibility tests. Specifically, VSWM performance at higher span levels (5 or above) yielded a greater improvement. The findings suggest that eye-tracking training can be a feasible and effective after-school program for improving working memory and cognitive flexibility performance in children with ADHD and ASD. This study was prospectively registered at ClinicalTrials.gov (https://clinicaltrials.gov/, trial number: NCT05428657).

鉴于眼动与额叶功能之间的密切联系,以及一些证据支持眼动追踪训练对提高由额叶介导的认知表现的作用,本研究旨在探讨课后眼动追踪训练能否改善注意力缺陷/多动症(ADHD)和自闭症谱系障碍(ASD)儿童的视觉空间工作记忆(VSWM)和认知灵活性表现。本研究是一项非随机分组试验。研究人员从八所小学中挑选了 40 名儿童,其中一半接受眼动追踪训练,为期 9 个月,共 20 节课,另一半作为候补对照。他们的人口统计学特征和基线认知表现是匹配的。在研究开始和结束时对他们的 VSWM 和认知灵活性进行了评估。结果显示,接受眼动追踪训练的儿童(而非候补对照组儿童)在VSWM测试的总分和工作记忆跨度以及认知灵活性测试的正确反应方面均有显著提高。特别是,在跨度较高(5 或以上)的工作记忆测试中,VSWM 的成绩提高幅度更大。研究结果表明,眼动追踪训练是一项可行且有效的课后项目,可改善多动症和自闭症儿童的工作记忆和认知灵活性表现。本研究已在ClinicalTrials.gov(https://clinicaltrials.gov/,试验编号:NCT05428657)上进行了前瞻性注册。
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引用次数: 0
Longitudinal change in symptom severity in children with ASD: Results from the ELENA cohort 自闭症儿童症状严重程度的纵向变化:ELENA队列的研究结果。
IF 5.3 2区 医学 Q1 BEHAVIORAL SCIENCES Pub Date : 2024-10-04 DOI: 10.1002/aur.3242
Florine Dellapiazza, Cécile Rattaz, Cécile Michelon, Hugo Peyre, Marie-Christine Picot, Amaria Baghdadli

Autism spectrum disorder (ASD) is a lifelong neurodevelopmental condition and understanding the changes in autism symptoms over time is crucial for tailoring support and interventions. This study therefore aimed to investigate the changes in symptom severity in a large cohort of children with ASD over a three-year follow-up period and identify factors that influence these changes. The study included 575 children diagnosed with ASD, ranging in age from 2 to 12 years, who were assessed at baseline and again 3 years later using the Autism Diagnostic Observational Schedule-2 (ADOS-2). ASD severity changes were investigated using the ADOS calibrated severity score (CSS) scores for total, social affect (SA) and restricted and repetitive behaviors (RRB). Results highlight four distinct patterns: stable high, stable low, increased, and decreased severity. The ADOS CSS total score changed for half of the sample, reflecting an increase in ASD severity for 21.9% and a decrease for 29.1% of children. For the other half, the ADOS CSS score remained stable, either high (34.4%) or low (14.6%). While the majority of previous studies reported stability in ASD severity, our findings revealed significant variability with frequent improvements in SA symptoms whereas RRBs remained stable or worsened. Our findings also showed that an improvement in SA was associated with the youngest group and early diagnosis. However, no clinical or sociodemographic factors were linked to changes in RRB, emphasizing the necessity for RRB-specific therapies. The third six-year follow-up point of the ongoing ELENA cohort study will map the long-term trajectories of the severity of ASD symptoms and their potential risk factors.

自闭症谱系障碍(ASD)是一种终身性神经发育疾病,了解自闭症症状随时间的变化对于调整支持和干预措施至关重要。因此,本研究旨在调查一大批自闭症儿童在三年随访期内症状严重程度的变化,并找出影响这些变化的因素。这项研究包括575名被诊断患有自闭症的儿童,年龄从2岁到12岁不等,他们在基线时接受评估,并在3年后再次接受自闭症诊断观察表-2(ADOS-2)的评估。自闭症严重程度的变化采用 ADOS 校准严重程度评分(CSS)对总分、社会情感(SA)和限制性重复行为(RRB)进行调查。结果突出显示了四种不同的模式:严重程度稳定在高、稳定在低、增加和减少。半数样本的 ADOS CSS 总分发生了变化,21.9% 的儿童 ASD 严重程度有所上升,29.1% 的儿童有所下降。另一半样本的 ADOS CSS 总分保持稳定,要么偏高(34.4%),要么偏低(14.6%)。虽然之前的大多数研究都报告了 ASD 严重程度的稳定性,但我们的研究结果显示,SA 症状经常出现改善,而 RRB 症状则保持稳定或恶化,因此存在很大的差异。我们的研究结果还显示,自闭症症状的改善与年龄最小的群体和早期诊断有关。然而,临床或社会人口因素都与 RRB 的变化无关,这强调了针对 RRB 治疗的必要性。正在进行的ELENA队列研究的第三个六年随访点将描绘出自闭症症状严重程度及其潜在风险因素的长期轨迹。
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引用次数: 0
Fast updating of stimulus history reveals weak internal representations of faces in autism 刺激历史的快速更新揭示了自闭症患者薄弱的人脸内部表征。
IF 5.3 2区 医学 Q1 BEHAVIORAL SCIENCES Pub Date : 2024-09-30 DOI: 10.1002/aur.3236
Marissa Hartston, Tal Lulav-Bash, Yael Goldstein-Marcusohn, Galia Avidan, Bat-Sheva Hadad

Atypical perception has been widely reported in autism spectrum disorders, and deficits in face recognition, specifically, are argued to be closely associated with social impairment experienced by these individuals. However, it is still debated (a) whether deficits are perceptually based, and (b) what the role is of experience-based refinements of perceptual face representations in autism. We investigated the effect of short- and long-term experienced stimulus history on face processing. Autistic and non-autistic individuals performed same-different judgments in a serial discrimination task where two consecutive faces were drawn from a distribution of morphed faces. Use of stimulus statistics was measured by testing the gravitation of face representations towards, the mean of a range of morphed faces around which they were sampled (regression-to-the-mean). The results show that unlike non-autistic individuals, representations of own- and other-race faces were equally biased by stimulus statistics in autistic individuals. Moreover, autistic individuals used the most recently exposed faces without forming a strong internal representation based on the overall experienced faces, indicating a weaker internal model of the “typical” averaged face. This accumulated history of faces may underlie typical face specialization, and thus may account for the reduced specialization for own-race faces shown in autism. The results shed light on the way autistic people process and recognize faces, and on the basic mechanisms underlying atypical face perception.

自闭症谱系障碍中的非典型感知已被广泛报道,特别是人脸识别方面的缺陷,被认为与这些人的社交障碍密切相关。然而,目前仍存在以下争议:(a) 这些缺陷是否基于知觉;(b) 自闭症患者基于经验的人脸知觉表征的完善有何作用。我们研究了短期和长期经验刺激史对人脸加工的影响。自闭症患者和非自闭症患者在连续辨别任务中进行了同异判断。通过测试人脸表征对其取样范围内变形人脸的平均值的引力(回归平均值),对刺激统计量的使用进行了测量。结果表明,与非自闭症患者不同,自闭症患者对自己和其他种族面孔的表征同样受到刺激统计数据的影响。此外,自闭症患者使用的是最近接触的面孔,并没有根据整体经验形成强大的内部表征,这表明 "典型 "平均面孔的内部模型较弱。这种累积的面孔历史可能是典型面孔特化的基础,因此可能是自闭症患者对自己种族面孔的特化减少的原因。这些结果揭示了自闭症患者处理和识别面孔的方式,以及非典型面孔感知的基本机制。
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引用次数: 0
Autism is associated with in vivo changes in gray matter neurite architecture 自闭症与体内灰质神经元结构的变化有关。
IF 5.3 2区 医学 Q1 BEHAVIORAL SCIENCES Pub Date : 2024-09-26 DOI: 10.1002/aur.3239
Zachary P. Christensen, Edward G. Freedman, John J. Foxe

Postmortem investigations in autism have identified anomalies in neural cytoarchitecture across limbic, cerebellar, and neocortical networks. These anomalies include narrow cell mini-columns and variable neuron density. However, difficulty obtaining sufficient post-mortem samples has often prevented investigations from converging on reproducible measures. Recent advances in processing magnetic resonance diffusion weighted images (DWI) make in vivo characterization of neuronal cytoarchitecture a potential alternative to post-mortem studies. Using extensive DWI data from the Adolescent Brain Cognitive Developmentsm (ABCD®) study 142 individuals with an autism diagnosis were compared with 8971 controls using a restriction spectrum imaging (RSI) framework that characterized total neurite density (TND), its component restricted normalized directional diffusion (RND), and restricted normalized isotropic diffusion (RNI). A significant decrease in TND was observed in autism in the right cerebellar cortex (β = −0.005, SE =0.0015, p = 0.0267), with significant decreases in RNI and significant increases in RND found diffusely throughout posterior and anterior aspects of the brain, respectively. Furthermore, these regions remained significant in post-hoc analysis when the autism sample was compared against a subset of 1404 individuals with other psychiatric conditions (pulled from the original 8971). These findings highlight the importance of characterizing neuron cytoarchitecture in autism and the significance of their incorporation as physiological covariates in future studies.

自闭症患者的尸检发现,边缘、小脑和新皮层网络的神经细胞结构出现异常。这些异常包括狭窄的细胞小柱和可变的神经元密度。然而,由于难以获得足够的尸检样本,研究往往无法集中在可重复的测量上。磁共振弥散加权成像(DWI)处理技术的最新进展使神经元细胞结构的活体特征描述成为尸体研究的潜在替代方案。利用青少年脑认知发展(ABCD®)研究中的大量 DWI 数据,将 142 名被诊断为自闭症的患者与 8971 名对照组患者进行了比较,并采用限制谱成像(RSI)框架对神经元总密度(TND)、其组成部分限制归一化定向扩散(RND)和限制归一化各向同性扩散(RNI)进行了表征。自闭症患者右侧小脑皮层的神经元总密度显著降低(β = -0.005,SE =0.0015,p = 0.0267),RNI显著降低,RND显著增加,分别遍布大脑的后部和前部。此外,在将自闭症样本与1404名其他精神疾病患者(从最初的8971人中抽取)进行比较时,这些区域在事后分析中仍具有显著性。这些发现凸显了研究自闭症患者神经元细胞结构特征的重要性,以及将其作为生理协变量纳入未来研究的意义。
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引用次数: 0
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Autism Research
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