Division of Child and Adolescent Psychiatry, Centre for Autism Research in Africa (CARA), University of Cape Town, 46 Sawkins Road, Rondebosch, Cape Town, 7700, South Africa.
Mental Health and Wellbeing Research Group, Department of Public Health, Vrije Universiteit Brussel, Brussels, Belgium.
J Neurodev Disord. 2023 Sep 14;15(1):32. doi: 10.1186/s11689-023-09500-1.
Tuberous sclerosis complex (TSC) is associated with a wide range of physical manifestations for which international clinical recommendations for diagnosis and management have been established. TSC is, however, also associated with a wide range of TSC-Associated Neuropsychiatric Disorders (TAND) that are typically under-identified and under-treated yet associated with a profound burden of disease. The contemporary evidence base for the identification and treatment of TAND is much more limited and, to date, consensus recommendations for the diagnosis and management of TAND have also been limited and non-specific.
The TANDem project was launched with an international, interdisciplinary, and participatory consortium of 24 individuals, including TSC family representatives, from all World Health Organization (WHO) regions but one. One of the aims of the TANDem project was to generate consensus recommendations for the identification and treatment of TAND. At the time of this project, no internationally adopted standard methodology and methodological checklists existed for the generation of clinical practice recommendations. We therefore developed our own systematic procedure for evidence review and consensus-building to generate evidence-informed consensus recommendations of relevance to the global TSC community.
At the heart of the consensus recommendations are ten core principles surrounded by cluster-specific recommendations for each of the seven natural TAND clusters identified in the literature (autism-like, dysregulated behavior, eat/sleep, mood/anxiety, neuropsychological, overactive/impulsive, and scholastic) and a set of wraparound psychosocial cluster recommendations. The overarching recommendation is to "screen" for TAND at least annually, to "act" using appropriate next steps for evaluation and treatment, and to "repeat" the process to ensure early identification and early intervention with the most appropriate biological, psychological, and social evidence-informed approaches to support individuals with TSC and their families.
The consensus recommendations should provide a systematic framework to approach the identification and treatment of TAND for health, educational, social care teams and families who live with TSC. To ensure global dissemination and implementation of these recommendations, partnerships with the international TSC community will be important. One of these steps will include the generation of a "TAND toolkit" of "what to seek" and "what to do" when difficulties are identified in TAND clusters.
结节性硬化症（TSC）与广泛的身体表现有关，为此已制定了国际临床诊断和管理建议。然而，TSC 还与广泛的 TSC 相关神经精神障碍（TAND）有关，这些障碍通常未被识别和治疗，但与疾病的严重负担有关。目前，TAND 的识别和治疗的证据基础要有限得多，迄今为止，TAND 的诊断和管理的共识建议也很有限且不具体。
TANDem 项目由一个由 24 名个人组成的国际跨学科参与性联盟发起，包括来自世界卫生组织（WHO）所有地区的 TSC 家庭代表，但有一个地区除外。TANDem 项目的目标之一是为 TAND 的识别和治疗制定共识建议。在该项目进行时，还没有国际上采用的标准方法和方法检查表来生成临床实践建议。因此，我们开发了自己的系统程序来进行证据审查和共识制定，以生成与全球 TSC 社区相关的循证共识建议。
共识建议的核心是十个核心原则，围绕着文献中确定的七个自然 TAND 集群中的每一个集群的特定建议（类自闭症、失调行为、饮食/睡眠、情绪/焦虑、神经心理学、多动/冲动和学业），以及一套围绕心理社会集群的建议。首要建议是每年至少“筛查”一次 TAND，使用适当的评估和治疗下一步“行动”，并“重复”该过程，以确保早期识别和早期干预，采用最合适的生物、心理和社会循证方法来支持 TSC 患者及其家属。
这些共识建议应为健康、教育、社会保健团队和与 TSC 一起生活的家庭提供一个系统的框架来解决 TAND 的识别和治疗问题。为了确保这些建议在全球范围内传播和实施，与国际 TSC 社区建立伙伴关系将非常重要。其中一个步骤将包括生成一个“TAND 工具包”，其中包括在 TAND 集群中发现问题时“寻找什么”和“做什么”。
