背景:结节性硬化症(TSC)与广泛的身体表现有关,已经建立了诊断和治疗的国际临床建议。TSC是,然而,还与广泛的TSC相关神经精神疾病(TAND)相关,这些疾病通常未得到充分识别和治疗,但与严重的疾病负担相关。识别和治疗TAND的当代证据基础更为有限,到目前为止,TAND的诊断和治疗的共识建议也有限且无特异性.
方法:TANDem项目是在国际上启动的,跨学科,和24个人的参与联盟,包括TSC家族代表,来自所有世界卫生组织(WHO)地区,只有一个。TANDem项目的目标之一是为TAND的识别和治疗提出共识建议。在这个项目的时候,没有国际上采用的标准方法学和方法学检查表来生成临床实践建议.因此,我们制定了自己的证据审查和建立共识的系统程序,以生成与全球TSC社区相关的循证共识建议。
结果:共识建议的核心是十个核心原则,围绕着针对文献中确定的七个自然TAND聚类中的每个聚类的特定建议(类自闭症,失调的行为,吃饭/睡觉,情绪/焦虑,神经心理学,过度活跃/冲动,和学术)和一套环绕的心理社会集群建议。首要建议是至少每年“筛选”TAND,使用适当的后续步骤进行评估和治疗,并“重复”过程,以确保早期识别和早期干预与最合适的生物,心理,和社会循证方法,以支持个人与TSC及其家人。
结论:共识建议应提供一个系统的框架,以确定和治疗TAND以促进健康,教育,与TSC生活在一起的社会护理团队和家庭。为了确保在全球范围内传播和执行这些建议,与国际TSC社区的伙伴关系将是重要的。这些步骤之一将包括当在TAND集群中识别出困难时,生成“寻求什么”和“做什么”的“TAND工具包”。
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.