Early Detection of Tuberous Sclerosis Complex: An Opportunity for Improved Neurodevelopmental Outcome.

Background: Tuberous sclerosis complex (TSC) is an autosomal dominant condition associated with epilepsy, benign tumors, and variable neurodevelopmental outcomes. The diagnosis is most commonly made after epilepsy onset, although a proportion are diagnosed prenatally. Presymptomatic or early treatment with agents such as vigabatrin offers the hope of improved neurodevelopmental outcome. Therefore early diagnosis, before the onset of seizures, is important. In a cohort of children with TSC, we evaluated the age and mode of initial presentation, assessed the neurocognitive and epilepsy outcome, and analyzed whether those diagnosed before the onset of seizures have a different outcome compared with those diagnosed postseizures.

Methods: We reviewed patients at the TSC clinic at Sydney Children's Hospital who were born between 2001 and 2015.

Results: A total of 74 patients were identified: 34 (46%) diagnosed preseizure (21 prenatally) and 40 (54%) postseizure. In the preseizure cohort, 77% presented with cardiac rhabdomyoma(s) and 72% developed seizures. The postseizure cohort had more severe epilepsy, requiring more antiepileptic drugs for seizure control (median five, compared with three in the preseizure cohort [P = 0.01]). Developmental disability occurred in 65% of the preseizure cohort compared with 72% of the postseizure cohort. Severe developmental disability most often occurred in children who had their first seizure before age 12 months.

Conclusion: Children who are diagnosed with TSC before the onset of seizures have less severe epilepsy and better developmental outcome.