The research landscape of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)-a comprehensive scoping review.
The research landscape of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)-a comprehensive scoping review.
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DOI：
10.1186/s11689-022-09423-3
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发表时间：
2022-02-13
影响因子：
4.9
通讯作者：
de Vries PJ
中科院分区：
文献类型：
--
作者：
Vanclooster S;Bissell S;van Eeghen AM;Chambers N;De Waele L;Byars AW;Capal JK;Cukier S;Davis P;Flinn J;Gardner-Lubbe S;Gipson T;Heunis TM;Hook D;Kingswood JC;Krueger DA;Kumm AJ;Sahin M;Schoeters E;Smith C;Srivastava S;Takei M;Waltereit R;Jansen AC;de Vries PJ
结节性硬化症(TSC)相关性神经精神障碍(TAND)是结节性硬化症的行为、精神、智力、学术、神经心理和心理社会表现的总称。尽管TAND影响了90%的TSC患者的一生，但这些表现相对地被低估、治疗和研究不足。我们对到目前为止的所有Tand研究进行了全面的范围审查，(A)描述了现有的Tand研究格局，(B)确定了知识差距，以指导未来的Tand研究。这项研究是按照Arksey和O‘Malley范围审查框架内概述的阶段进行的。研究涉及TAND水平和集群的研究特点、研究设计和研究内容等10个研究问题。在2841个返回的搜索中，包含了在1987至2020年间发表的230篇文章(动物研究=30篇，案例研究=47篇，队列研究=153篇)，其中一半以上是在2012年tand这个词被创造出来之后发表的(118/230；51%)。队列研究主要涉及儿童和/或青少年(63%)，而不是老年人(16%)。研究涉及来自45个国家的341个独立研究站点，其中大多数来自美国(89/341；26%)和英国(50/341；15%)。只有48个研究地点(14%)位于中低收入国家(LMIC)。动物研究和案例研究的质量相对较高，但队列研究显示出显著的变异性。在153项队列研究中，只有16项(10%)包括干预措施。所有这些都不是非药理学的，只有13个采用了远程方法(例如电话采访、在线调查)。在所有的类群中，自闭症谱系障碍样群被研究最广泛(138/230；60%)，而学术类群最少(53/200；27%)。尽管TAND研究最近有所增加，但代表参与者整个生命周期的研究、LMIC研究地点和非药物干预被确定为未来的优先事项。队列研究的质量需要改进，标准化的直接行为评估的使用可能有助于提高质量。在人类研究中，学术水平尤其值得进一步研究。远程技术可帮助解决许多已查明的技术和知识差距。网上版载有补充材料，可在10.1186/s11689-022-09423-3查阅。
Tuberous sclerosis complex (TSC)–associated neuropsychiatric disorders (TAND) is an umbrella term for the behavioural, psychiatric, intellectual, academic, neuropsychological and psychosocial manifestations of TSC. Although TAND affects 90% of individuals with TSC during their lifetime, these manifestations are relatively under-assessed, under-treated and under-researched. We performed a comprehensive scoping review of all TAND research to date (a) to describe the existing TAND research landscape and (b) to identify knowledge gaps to guide future TAND research. The study was conducted in accordance with stages outlined within the Arksey and O’Malley scoping review framework. Ten research questions relating to study characteristics, research design and research content of TAND levels and clusters were examined. Of the 2841 returned searches, 230 articles published between 1987 and 2020 were included (animal studies = 30, case studies = 47, cohort studies = 153), with more than half published since the term TAND was coined in 2012 (118/230; 51%). Cohort studies largely involved children and/or adolescents (63%) as opposed to older adults (16%). Studies were represented across 341 individual research sites from 45 countries, the majority from the USA (89/341; 26%) and the UK (50/341; 15%). Only 48 research sites (14%) were within low–middle income countries (LMICs). Animal studies and case studies were of relatively high/high quality, but cohort studies showed significant variability. Of the 153 cohort studies, only 16 (10%) included interventions. None of these were non-pharmacological, and only 13 employed remote methodologies (e.g. telephone interviews, online surveys). Of all TAND clusters, the autism spectrum disorder–like cluster was the most widely researched (138/230; 60%) and the scholastic cluster the least (53/200; 27%). Despite the recent increase in TAND research, studies that represent participants across the lifespan, LMIC research sites and non-pharmacological interventions were identified as future priorities. The quality of cohort studies requires improvement, to which the use of standardised direct behavioural assessments may contribute. In human studies, the academic level in particular warrants further investigation. Remote technologies could help to address many of the TAND knowledge gaps identified. The online version contains supplementary material available at 10.1186/s11689-022-09423-3.
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