Child and Adolescent Psychiatry and Psychotherapy, University Medical Center Göttingen, Von-Siebold-Str. 5, 37075, Göttingen, Germany.
Association Sclérose Tubéreuse De Bourneville, Hindisheim, France.
Orphanet J Rare Dis. 2021 May 12;16(1):216. doi: 10.1186/s13023-021-01800-w.
Tuberous sclerosis complex (TSC) is a rare, genetic, multisystem disorder characterized by the growth of hamartomas in several organs, including the brain, kidneys, heart, eyes, and lungs. Even though over 90% of patients will have some form of TSC-associated neuropsychiatric disorder (TAND), there is an apparent lack of involvement of mental health professionals (MHPs) in the care of patients with TSC. The aim of this study was to determine the current level of TAND awareness in the TSC community and to identify possible barriers to effective multidisciplinary collaboration between MHPs and other healthcare providers (HCPs) in TAND management.
An electronic survey on current TSC and TAND management was conducted, targeting TSC caregivers/families, psychiatrists, neurologists, TSC specialists, and primary care physicians.
The invitation to participate in the survey was emailed to 659 HCPs and was disseminated through social media channels of patient advocacy groups. The survey was open for 4 months, with 359 responses collected. The majority of participants were TSC caregivers/families (73.3% of all responses). Of the 96 HCPs who participated, most were neurologists (61.5%) or TSC specialists (28.1%). Only 6 psychiatrists and 4 primary care physicians participated. Approximately half of patients have never had a neuropsychiatric assessment, and it was their caregivers/families who initiated the discussion of TAND with their providers. Almost 70% of TSC caregivers/families believed that psychiatric treatment could improve their quality of life. However, 54% of patients had difficulty obtaining psychiatric assessment. In turn, only 21% of HCPs believed that psychiatric therapy would help and 74% were concerned that their patients would be stigmatized by psychiatric referral.
This study focused on European healthcare systems suggests that current care for mental health issues in patients with TSC is inadequate, despite guideline recommendations for regular neuropsychiatric assessments. This appears to be due to a combination of gaps in diagnosis and surveillance, low frequency of psychiatric referrals, insufficient resources, and stigmatization of mental healthcare. There is a pressing need for further initiatives to study and address the mechanisms underlying the mental health treatment gap. The importance of MHP support must be recognized to optimize TSC management.
结节性硬化症（TSC）是一种罕见的遗传性多系统疾病，其特征是脑、肾、心、眼和肺等多个器官的错构瘤生长。尽管超过 90%的患者会出现某种形式的 TSC 相关神经精神障碍（TAND），但精神健康专业人员（MHPs）显然并未参与 TSC 患者的护理。本研究旨在确定 TSC 社区中 TAND 的认知水平，并确定 MHPs 与 TAND 管理中的其他医疗保健提供者（HCPs）之间进行有效多学科合作的可能障碍。
对 TSC 护理者/家属、精神科医生、神经科医生、TSC 专家和初级保健医生进行了一项关于当前 TSC 和 TAND 管理的电子调查。
向 659 名 HCP 发送了参与调查的邀请，并通过患者权益组织的社交媒体渠道进行了传播。调查开放了 4 个月，共收到 359 份回复。大多数参与者是 TSC 护理者/家属（所有回复的 73.3%）。在 96 名参与的 HCP 中，大多数是神经科医生（61.5%）或 TSC 专家（28.1%）。只有 6 名精神科医生和 4 名初级保健医生参与了调查。大约一半的患者从未接受过神经精神评估，是他们的护理者/家属与他们的医疗服务提供者讨论了 TAND。近 70%的 TSC 护理者/家属认为精神科治疗可以改善他们的生活质量。然而，54%的患者在获得精神科评估方面存在困难。相反，只有 21%的 HCP 认为心理治疗会有所帮助，74%的人担心患者会因精神科转介而受到污名化。
这项针对欧洲医疗保健系统的研究表明，尽管有定期进行神经精神评估的指南建议，但目前 TSC 患者的心理健康问题护理不足。这似乎是由于诊断和监测方面的差距、精神科转诊的频率较低、资源不足以及对精神保健的污名化等多种因素造成的。迫切需要进一步采取措施来研究和解决精神卫生治疗差距的根本原因。必须认识到 MHPs 的支持的重要性，以优化 TSC 的管理。
