Gender Differences in Autism Spectrum Disorders in a Population-Based Twin Sample: testing three hypotheses for male preponderance.

基于人群的双胞胎样本中自闭症谱系障碍的性别差异：检验男性占优势的三个假设。

• 批准号: ES/M011488/1
• 负责人: Francesca Happe
• 金额: $ 68.87万
• 依托单位: King's College London
• 依托单位国家: 英国
• 项目类别: Research Grant
• 财政年份: 2016
• 资助国家: 英国
• 起止时间: 2016 至 无数据
• 项目状态: 已结题
• 来源: https://gtr.ukri.org/projects?ref=ES%2FM011488%2F1
• 关键词: Gender; Differences; Autism; Spectrum; Disorders

The proposed research aims to investigate gender differences across the full range of the autism spectrum, in a population-based sample of twins. Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterised by difficulties in social behaviour and communication, with restricted/repetitive behaviours and interests. One of the most striking features of ASD is the high male to female ratio, which varies across the spectrum, but is usually estimated at 4-5:1. The higher rate of ASD in males has been seen as a clue to the etiology of ASD; e.g. Baron-Cohen's 'extreme male brain' theory (Baron-Cohen, 2002) or the Female Protective Effect (FPE; e.g. Robinson et al., 2013). However, it is also possible that ASD is less well recognised in females, either due to male-stereotypes or genuine compensation. It is important to know whether current diagnostic practices miss females who would benefit from identification and intervention. The proposed study aims to address directly the question of whether females with high ASD traits are being missed by diagnostic practices or are instead coping/compensating and do not need a diagnosis. To do this the proposed research will compare four participant groups; females and males who meet diagnostic criteria for ASD, and females and males who score highly for ASD traits, but who do not meet diagnostic criteria. A battery of gold-standard diagnostic tools, cognitive tasks, measures of coping, quality of life, co-morbidities and mental and physical health will be completed by the four groups. This design will allow not only comparison of symptom presentation and cognitive profiles across genders, but also examination of whether high trait females without a diagnosis are compensating or instead 'suffering in silence'. It is vital to understand whether, and why, we fail to diagnose ASD in females, in order to clarify whether the current gender disparity is purely biological or also a reflection, in part, of problems with a male-focused conceptualisation, recognition, assessment or diagnosis of ASD.The proposed study is part of a longitudinal ASD twin study, nested within the larger Twins Early Development Study (TEDS). This design allows for the inclusion of non ASD co-twins and thus a more family wide exploration of gender, as well as specific examination of the FPE hypothesis, which suggests that a greater etiological 'load' is needed to result in ASD in females than males. Along with the FPE the proposed study tests two further, novel hypotheses: the 'Female Masking Effect' whereby females are less likely to receive a diagnosis of ASD because they are missed by male-focused diagnostic processes, and the 'Female Compensatory Effect' whereby females are less likely to receive a diagnosis of ASD because (in the absence of IQ/co-morbid problems) they cope better with high ASD traits via compensation and therefore do not need a diagnosis. The population-based design of the proposed study and the inclusion of the full ASD spectrum, address previous limitations with research in this area, such as possible sampling bias (due to use of clinic or volunteer register samples) and circularity (due to inclusion of only those meeting current diagnostic criteria).The proposed study has the potential to change the way we think about ASD; currently the accepted ratio of 4-5:1 informs research design and sample selection, and females are often excluded from research. The proposed study will tell the research/clinical/stakeholder communities whether and why this ratio may reflect bias in recognition/assessment/diagnosis, with far reaching implications for future research. In addition, the study has potential benefits for females with high traits/ASD by listening to and learning from their experiences. The proposed study has the potential to improve recognition of ASD in females, as a first step to targeting services and rebalancing the scientific and public perception of ASD.

这项拟议中的研究旨在以双胞胎为样本，调查自闭症谱系的性别差异。自闭症谱系障碍（ASD）是一种神经发育状况，其特征是社交行为和沟通困难，行为和兴趣受限/重复。ASD最显著的特征之一是男性与女性的比例很高，这在不同的谱系中有所不同，但通常估计为4-5：1。男性中ASD的较高比率已被视为ASD病因学的线索;例如Baron-Cohen的“极端男性大脑”理论（Baron-Cohen，2002）或女性保护效应（FPE;例如罗宾逊等人，2013年）。然而，也有可能ASD在女性中不太被认可，这可能是由于男性的刻板印象或真正的补偿。重要的是要知道，目前的诊断做法是否错过了女性谁将受益于识别和干预。这项拟议的研究旨在直接解决具有高ASD特征的女性是否被诊断实践所遗漏的问题，或者是应对/补偿而不需要诊断。为了做到这一点，拟议的研究将比较四个参与者组;符合ASD诊断标准的女性和男性，以及ASD特征得分高但不符合诊断标准的女性和男性。四个小组将完成一系列金标准诊断工具、认知任务、应对措施、生活质量、合并症以及身心健康。这种设计不仅可以比较不同性别的症状表现和认知特征，还可以检查没有诊断的高特质女性是否正在补偿或“沉默中受苦”。重要的是要了解我们是否以及为什么未能诊断出女性ASD，以澄清当前的性别差异是否纯粹是生物学的，或者也反映了部分以男性为中心的ASD概念化，识别，评估或诊断问题。拟议的研究是纵向ASD双胞胎研究的一部分，嵌套在更大的双胞胎早期发育研究（TEDS）中。这种设计允许包括非ASD双胞胎，从而更广泛地探索性别，以及对FPE假设的具体检查，这表明女性比男性需要更大的病因学“负荷”才能导致ASD。沿着FPE，拟议的研究进一步测试了两个新的假设：“女性掩蔽效应”，即女性不太可能接受ASD的诊断，因为他们被男性为重点的诊断过程所遗漏，以及“女性补偿效应”，即女性不太可能接受ASD的诊断，（在没有智商/共病问题的情况下）他们通过补偿更好地科普高ASD特征，因此不需要诊断。该研究以人群为基础的设计，并纳入了完整的ASD谱，解决了以前在这一领域研究的局限性，例如可能的抽样偏倚（由于使用诊所或志愿者登记样本）和循环（由于仅纳入符合当前诊断标准的患者）。拟议的研究有可能改变我们对ASD的看法;目前接受的比例为4-5：1为研究设计和样本选择提供了信息，女性往往被排除在研究之外。拟议的研究将告诉研究/临床/利益相关者社区，这一比例是否以及为什么可能反映识别/评估/诊断中的偏见，对未来的研究产生深远的影响。此外，这项研究通过倾听和学习她们的经验，对具有高特质/ASD的女性有潜在的好处。这项研究有可能提高女性对ASD的认识，作为有针对性的服务和重新平衡ASD的科学和公众认知的第一步。

项目成果

Additional file 1 of Quantifying compensatory strategies in adults with and without diagnosed autism

附加文件 1：量化患有和未诊断出自闭症的成年人的补偿策略

• DOI: 10.6084/m9.figshare.11846412
• 发表时间: 2020
• 作者: Livingston L

Autism Spectrum Disorder and Mental Health Problems: Patterns of Difficulties and Longitudinal Trajectories in a Population-Based Twin Sample.

• DOI: 10.1007/s10803-021-05006-8
• 发表时间: 2022-03
• 期刊: Journal of autism and developmental disorders
• 影响因子: 3.9
• 作者: Colvert E;Simonoff E;Capp SJ;Ronald A;Bolton P;Happé F
• 通讯作者: Happé F

Quantifying and exploring camouflaging in men and women with autism.

量化和探索自闭症男性和女人的伪装。

• DOI: 10.1177/1362361316671012
• 发表时间: 2017-08
• 期刊: Autism : the international journal of research and practice
• 作者: Lai MC;Lombardo MV;Ruigrok AN;Chakrabarti B;Auyeung B;Szatmari P;Happé F;Baron-Cohen S;MRC AIMS Consortium
• 通讯作者: MRC AIMS Consortium

Is quality of life related to high autistic traits, high ADHD traits and their Interaction? Evidence from a Young-Adult Community-Based twin sample.

生活质量是否与高自闭症性状，高多动症性状及其相互作用有关？来自年轻成年社区的双胞胎样本的证据。

• DOI: 10.1007/s10803-022-05640-w
• 发表时间: 2023-09
• 期刊: JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
• 影响因子: 3.9
• 作者: Capp, Simone J.;Agnew-Blais, Jessica;Lau-Zhu, Alex;Colvert, Emma;Tye, Charlotte;Aydin, Umit;Lautarescu, Alexandra;Ellis, Claire;Saunders, Tyler;O'Brien, Lucy;Ronald, Angelica;Happe, Francesca;McLoughlin, Grainne
• 通讯作者: McLoughlin, Grainne

Neural self-representation in autistic women and association with 'compensatory camouflaging'.

• DOI: 10.1177/1362361318807159
• 发表时间: 2019-07
• 期刊: Autism : the international journal of research and practice
• 作者: Lai MC;Lombardo MV;Chakrabarti B;Ruigrok AN;Bullmore ET;Suckling J;Auyeung B;Happé F;Szatmari P;Baron-Cohen S;MRC AIMS Consortium
• 通讯作者: MRC AIMS Consortium