Metro South Addiction and Mental Health Service, Princess Alexandra Hospital, Brisbane, Queensland, Australia.
Neurosciences Unit, Queensland Children's Hospital, Brisbane, Queensland, Australia.
Epilepsia. 2024 Sep;65(9):2709-2717. doi: 10.1111/epi.18069. Epub 2024 Jul 23.
Historically, epilepsy has been the most frequently presenting feature of tuberous sclerosis complex (TSC). Advances in TSC health care have occurred over the past decade; thus, we studied whether TSC epilepsy outcomes have changed.
A retrospective chart review was undertaken for all children with TSC in Queensland, Australia. Epilepsy outcome and TSC diagnosis data were extracted, and data were compared between children born before 2012 with those born in or after 2012.
In this retrospective cohort, TSC diagnosis in children born in or after 2012 is now predominantly antenatal (51%, p < .05). Most patients with epilepsy are now known to have TSC before they develop epilepsy. Despite earlier TSC diagnosis, the frequency of epilepsy (85%) has not changed (p = .92), but diagnosis trends toward an earlier age (median = 3 months for patients born in or after 2012 vs. 5.5 months for those born before 2012, p = .23). Most (95%) patients had focal seizures as their initial clinical seizure type; it was rare (5%) for epileptic spasms (ES) to be the initial seizure type. The frequency of ES was lower in patients born in or after 2012 (36% vs. 50%, p = .27). Infantile (<24 months) onset ES was not associated with worse epilepsy outcome. Late onset ES was seen in 14%, and these patients had a lower rate of epilepsy remission. Lennox-Gastaut syndrome was seen in 7%. Febrile/illness-related status epilepticus occurred in 12% of patients, between 1 and 4 years of age. Despite many (78%) patients having multiple daily seizures at maximal seizure frequency, and 74% meeting criteria for treatment-refractory epilepsy, most patients achieved epilepsy remission (66%), either with epilepsy surgery (47%) or with age (53%). At the time of inclusion in this study, only 21% of patients had uncontrolled frequent (daily to 3 monthly) seizures and 14% had uncontrolled infrequent (3 monthly to <2 yearly) seizures.
This study provides updated information that informs the counseling of parents of newly diagnosed pediatric TSC patients.
historically，癫痫一直是结节性硬化症（TSC）最常见的表现特征。过去十年中，TSC 的医疗保健取得了进步；因此，我们研究了 TSC 癫痫的结果是否发生了变化。
对澳大利亚昆士兰州所有患有 TSC 的儿童进行回顾性图表审查。提取癫痫结局和 TSC 诊断数据，并比较 2012 年前出生的儿童与 2012 年或之后出生的儿童的数据。
在这项回顾性队列研究中，2012 年或之后出生的儿童的 TSC 诊断现在主要是产前（51%，p<.05）。现在大多数患有癫痫的患者在发病前就已经知道患有 TSC。尽管 TSC 的诊断更早，但癫痫的频率（85%）并没有改变（p=.92），但诊断趋势趋于更早的年龄（中位数=2012 年或之后出生的患者为 3 个月，而 2012 年前出生的患者为 5.5 个月，p=.23）。大多数（95%）患者的初始临床发作类型为局灶性发作；癫痫性痉挛（ES）很少见（5%）为初始发作类型。2012 年或之后出生的患者中 ES 的频率较低（36%对 50%，p=.27）。婴儿期（<24 个月）发病的 ES 与更差的癫痫结局无关。14%的患者出现晚发性 ES，这些患者癫痫缓解率较低。Lennox-Gastaut 综合征发生率为 7%。热性/疾病相关癫痫持续状态发生在 12%的患者中，年龄在 1 至 4 岁之间。尽管许多（78%）患者在最大发作频率下每天有多次发作，并且 74%符合治疗抵抗性癫痫的标准，但大多数患者（66%）实现了癫痫缓解，其中 47%通过癫痫手术，53%通过年龄。在本研究纳入时，只有 21%的患者有不受控制的频繁（每天至 3 个月）发作，14%的患者有不受控制的不频繁（3 个月至<2 年）发作。
本研究提供了更新的信息，为新诊断的儿科 TSC 患者的家长提供了咨询依据。
