Clara W T Chung1, John A Lawson2, Vanessa Sarkozy3, Kate Riney4, Orli Wargon5, Antonia W Shand6, Stephen Cooper7, Harrison King1, Sean E Kennedy8, David Mowat9. 1. Department of Medical Genetics, Sydney Children's Hospital, Randwick, NSW, Australia. 2. Department of Neurology, Sydney Children's Hospital, Randwick, NSW, Australia; School of Women's and Children's Health, UNSW Medicine, The University of New South Wales, Kensington, NSW, Australia. 3. School of Women's and Children's Health, UNSW Medicine, The University of New South Wales, Kensington, NSW, Australia; Child Development Services (Tumbatin), Sydney Children's Hospital, Randwick, NSW, Australia. 4. Department of Neurology, Lady Cilento Children's Hospital, South Brisbane, QLD, Australia. 5. Department of Dermatology, Sydney Children's Hospital, Randwick, NSW, Australia. 6. School of Women's and Children's Health, UNSW Medicine, The University of New South Wales, Kensington, NSW, Australia; Maternal Fetal Medicine Unit, The Royal Hospital for Women, Randwick, NSW, Australia; Menzies Centre for Health Policy, School of Public Health, University of Sydney, Sydney, NSW, Australia. 7. Department of Cardiology, Sydney Children's Hospital, Randwick, NSW, Australia. 8. School of Women's and Children's Health, UNSW Medicine, The University of New South Wales, Kensington, NSW, Australia; Department of Nephrology, Sydney Children's Hospital, Randwick, NSW, Australia. 9. Department of Medical Genetics, Sydney Children's Hospital, Randwick, NSW, Australia; School of Women's and Children's Health, UNSW Medicine, The University of New South Wales, Kensington, NSW, Australia. Electronic address: david.mowat@health.nsw.gov.au.
Abstract
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.
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.
Authors: Charlotte Tye; Laura E Thomas; Julian R Sampson; Julia Lewis; Finbar O'Callaghan; John R W Yates; Patrick F Bolton Journal: Epilepsia Open Date: 2018-04-06
Authors: Jacqueline A French; Martina Bebin; Marc A Dichter; Jerome Engel; Adam L Hartman; Sergiusz Jóźwiak; Pavel Klein; James McNamara; Roy Twyman; Paul Vespa Journal: Epilepsia Open Date: 2021-07-29