Mari Wold Henriksen1, Hilde Breck2, Stephen von Tetzchner3, Benedicte Paus4, Ola H Skjeldal5, Eylert Brodtkorb6. 1. Department of Neurology, Drammen Hospital, Vestre Viken Hospital Trust, P.O. Box 800, 3004, Drammen, Norway; Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, P.O. Box 1171, Blindern, 0318, Oslo, Norway. Electronic address: mari.wold.henriksen@vestreviken.no. 2. Department of Habilitation, Innlandet Hospital Trust, Anders Sandvigs v. 17, 2629, Lillehammer, Norway; Department of Psychology, University of Oslo, P.O. Box 1094, Blindern, 0317, Oslo, Norway. Electronic address: hilde.breck@gmail.com. 3. Department of Psychology, University of Oslo, P.O. Box 1094, Blindern, 0317, Oslo, Norway. Electronic address: s.v.tetzchner@psykologi.uio.no. 4. Department of Medical Genetics, Oslo University Hospital, Box 4950, 0424, Oslo, Norway; Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway. Electronic address: benedicte.paus@medisin.uio.no. 5. Gillberg Neuropsychiatry Centre, Sahlgrenska Academy, University of Gothenburg, Kungsgatan 12, 41119, Gothenburg, Sweden. Electronic address: ola.skjeldal@gmail.com. 6. Department of Neurology and Clinical Neurophysiology, St. Olav's University Hospital, P.O. Box 3250, Torgarden, 7006, Trondheim, Norway; Department of Neuroscience, Norwegian University of Science and Technology, 7491, Trondheim, Norway. Electronic address: eylert.brodtkorb@ntnu.no.
Abstract
PURPOSE: Rett syndrome (RTT) is a neurodevelopmental disorder that almost exclusively affects females. Epilepsy is a major clinical feature, but its long-term course in RTT has not been sufficiently explored. This study addresses the development of the epilepsy in adults with RTT. METHODS: Available females diagnosed with RTT in Norway were asked to participate. Parents/caregivers were interviewed, the girls/women were examined and their medical records reviewed. Participants were categorized according to age, epilepsy, seizure patterns and mutation severity groups. RTT severity was assessed (epilepsy score excluded). RESULTS: 70 females with classic RTT were included. A presumed pathogenic mutation in MECP2 was found in 96%. The presence of active epilepsy (seizures last five years) was similar in all age groups above the age of ten: 11 (65%) in adolescents (11-20 years), 9 (60%) in young adults (21-30 years) and 14 (67%) in participants above 30 years of age. Tonic-clonic seizures within the last year were present in 55, 67 and 64%, and ≥ weekly seizures occurred in 27, 45 and 50% in the respective age groups. Among participants with active epilepsy, 69% had unremitting seizures, whereas 31% had experienced remissions for more than six months during the last five years. In the oldest group (>30 years), only 19% had obtained seizure control for >5 years, and 14% had never experienced seizures. Seizure activity correlated with RTT severity score, whereas the relationship to mutation type remained ambiguous. CONCLUSION: Epilepsy continues to be a major concern in adults with RTT. Two thirds of women above 30 years of age remained with active epilepsy and 50% of them had seizures at least weekly.
PURPOSE:Rett syndrome (RTT) is a neurodevelopmental disorder that almost exclusively affects females. Epilepsy is a major clinical feature, but its long-term course in RTT has not been sufficiently explored. This study addresses the development of the epilepsy in adults with RTT. METHODS: Available females diagnosed with RTT in Norway were asked to participate. Parents/caregivers were interviewed, the girls/women were examined and their medical records reviewed. Participants were categorized according to age, epilepsy, seizure patterns and mutation severity groups. RTT severity was assessed (epilepsy score excluded). RESULTS: 70 females with classic RTT were included. A presumed pathogenic mutation in MECP2 was found in 96%. The presence of active epilepsy (seizures last five years) was similar in all age groups above the age of ten: 11 (65%) in adolescents (11-20 years), 9 (60%) in young adults (21-30 years) and 14 (67%) in participants above 30 years of age. Tonic-clonic seizures within the last year were present in 55, 67 and 64%, and ≥ weekly seizures occurred in 27, 45 and 50% in the respective age groups. Among participants with active epilepsy, 69% had unremitting seizures, whereas 31% had experienced remissions for more than six months during the last five years. In the oldest group (>30 years), only 19% had obtained seizure control for >5 years, and 14% had never experienced seizures. Seizure activity correlated with RTT severity score, whereas the relationship to mutation type remained ambiguous. CONCLUSION:Epilepsy continues to be a major concern in adults with RTT. Two thirds of women above 30 years of age remained with active epilepsy and 50% of them had seizures at least weekly.
Authors: Karen M J Van Loo; Gemma L Carvill; Albert J Becker; Karen Conboy; Alica M Goldman; Katja Kobow; Iscia Lopes-Cendes; Christopher A Reid; Erwin A van Vliet; David C Henshall Journal: Nat Rev Neurol Date: 2022-07-20 Impact factor: 44.711
Authors: Cary Fu; Dallas Armstrong; Eric Marsh; David Lieberman; Kathleen Motil; Rochelle Witt; Shannon Standridge; Paige Nues; Jane Lane; Tristen Dinkel; Monica Coenraads; Jana von Hehn; Mary Jones; Katie Hale; Bernhard Suter; Daniel Glaze; Jeffrey Neul; Alan Percy; Timothy Benke Journal: BMJ Paediatr Open Date: 2020-09-13
Authors: Clare Cutri-French; Dallas Armstrong; Joni Saby; Casey Gorman; Jane Lane; Cary Fu; Sarika U Peters; Alan Percy; Jeffrey L Neul; Eric D Marsh Journal: Ann Neurol Date: 2020-06-29 Impact factor: 10.422