BACKGROUND Tuberous sclerosis complex (TSC) is a highly variable condition and its clinical features cannot reliably be predicted from the genotype. Counselling of parents of a child with TSC is challenging because of the variability of the condition and the changing outlook due to new treatment options. This study explored current counselling strategies in TSC in the Netherlands, with the aim of developing a recommendation for counselling. METHOD We performed a nationwide survey using digital questionnaires. Questionnaires were sent to parents of children diagnosed with TSC, and to medical doctors involved in counselling, both no more than ten years prior to the study. Questions focused on general information about the child with TSC, medical doctors involved in counselling, type of information provided, mode of providing information, and recommendations for improvement of counselling. RESULTS Parents of 34 children diagnosed with TSC (7 prenatally) and 18 medical doctors from different departments responded to the questionnaires. Almost all parents were informed on the neurological and cardiac symptoms of TSC, other symptoms were mentioned less often. Satisfaction on counselling was higher when more information on the variability of TSC was provided, preferentially during a clinical visit, when emotional support was provided, and when parents were notified of the TSC patient society. CONCLUSIONS Information on the variability in expression and quality of life is highly demanded by (expecting) parents of a child with TSC. Furthermore, reference should be made to institutions such as the support organisation for patients and social services for questions and support.

中文翻译：

---

结节性硬化症咨询：荷兰内容和满意度调查

背景结节性硬化症(TSC) 是一种高度可变的病症，其临床特征不能从基因型可靠地预测。由于病情的可变性和因新的治疗方案而改变的前景，为患有 TSC 的孩子的父母提供咨询具有挑战性。本研究探讨了荷兰 TSC 当前的咨询策略，目的是制定咨询建议。方法 我们使用数字问卷进行了全国性调查。调查问卷被发送给被诊断患有 TSC 的儿童的父母，以及参与咨询的医生，两者均在研究前不超过十年。问题集中在关于患有 TSC 的孩子的一般信息、参与咨询的医生、提供的信息类型、提供信息的方式、和改进咨询的建议。结果 34 名确诊为 TSC 的儿童（7 名产前）的父母和 18 名来自不同科室的医生对问卷进行了回应。几乎所有的父母都被告知 TSC 的神经和心脏症状，其他症状很少被提及。当提供更多关于 TSC 变异性的信息时，对咨询的满意度更高，优先在临床访问期间，当提供情感支持时，以及当父母被告知 TSC 患者社会时。结论 患有 TSC 儿童的（预期）父母非常需要有关表达和生活质量变异性的信息。此外，应参考患者支持组织和社会服务机构等机构进行提问和支持。