Early detection of Tuberous Sclerosis Complex: an opportunity for improved neurodevelopmental outcome

Publication date: Available online 26 May 2017
Source:Pediatric Neurology
Author(s): Clara Wai Ting Chung, John Anthony Lawson, Vanessa Sarkozy, Kate Riney, Orli Wargon, Antonia W. Shand, Stephen Cooper, Harrison King, Sean E. Kennedy, David Mowat
BackgroundTuberous 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. We evaluated the age and mode of initial presentation; assess the neurocognitive and epilepsy outcome of a recent cohort of children with TSC; and to determine if those diagnosed pre-seizures have a different outcome compared with those diagnosed post-seizures.MethodsA retrospective review of patients at the TSC clinic at Sydney Children's Hospital born between 2001 and 2015.Results74 patients were ascertained: 34 (46%) diagnosed pre-seizure (21 prenatally) and 40 (54%) post-seizure. In the pre-seizure cohort, 77% presented with cardiac rhabdomyoma(s), and 72% developed seizures. The post-seizure cohort had more severe epilepsy, requiring more anticonvulsants for seizure control (median 5, compared with 3 in the pre-seizure cohort (p=0.01)). Developmental disability occurred in 65% of the pre-seizure cohort compared with 72% of the post-seizure cohort. Severe developmental disability was most often seen in children who had their first seizure before 12 months of age.ConclusionChildren diagnosed with TSC pre-seizures have less severe epilepsy and better developmental outcome.



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