Hannah Lewis1, Debopam Samanta2, Jenny-Li Örsell3, Katherine A Bosanko4, Amy Rowell5, Melissa Jones6, Russell C Dale7, Sasidharan Taravath8, Cecil D Hahn9, Deepa Krishnakumar10, Sarah Chagnon11, Stephanie Keller12, Eveline Hagebeuk13, Sheel Pathak14, E Martina Bebin15, Daniel H Arndt16, John J Alexander17, Gayatra Mainali18, Giangennaro Coppola19, Jane Maclean20, Steven Sparagana21, Nancy McNamara22, Douglas M Smith23, Víctor Raggio24, Marcos Cruz25, Alberto Fernández-Jaén26, Maina P Kava27, Lisa Emrick28, Jennifer L Fish29, Adeline Vanderver30, Guy Helman31, Tyler M Pierson32, Yuri A Zarate33. 1. University of Arkansas for Medical Sciences School of Medicine, Little Rock, Arkansas. 2. Section of Child Neurology, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas. 3. Division of Psychology, Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden. 4. Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas. 5. Department of Radiology, University of Arkansas for Medical Sciences, Little Rock, Arkansas. 6. Houston Area Pediatric Neurology, Houston, Texas. 7. Kids Neuroscience Centre, Children's Hospital at Westmead, Faculty of Medicine and Health, University of Sydney, Australia. 8. Department of Pediatric Neurology, Coastal Childrens service, Wilmington, North Carolina. 9. Division of Neurology, Department of Paediatrics, The Hospital for Sick Children and University of Toronto, Toronto, Canada. 10. Department of Paediatric Neurology, Addenbrooke's Hospital, Cambridge, UK. 11. Division of Child and Adolescent Neurology, Children's Hospital of the Kings Daughters, Norfolk, Virginia. 12. Division of Pediatric Neurology, Department of Pediatrics, Emory University, Atlanta, Georgia. 13. Stichting Epilepsie Instellingen Nederland (SEIN) Zwolle, the Netherlands. 14. Division of Pediatric and Developmental Neurology, Department of Neurology, Washington University School of Medicine, St. Louis, Missouri. 15. Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama. 16. Division of Pediatric Neurology, Department of Pediatrics, Beaumont Children's, Oakland University William Beaumont School of Medicine, Royal Oak, Michigan. 17. Division of Neurology, Seattle Children's Hospital, Seattle, Washington. 18. Division of Pediatric Neurology, Penn State College of Medicine, Hershey, Pennsylvania. 19. Department of Medicine, Surgery and Dentistry, Child and Adolescent Neuropsychiatry, University of Salerno, Italy. 20. Pediatric Neurology, Palo Alto medical foundation, San Jose, California. 21. Department of Neurology, Texas Scottish Rite Hospital for Children and University of Texas Southwestern Medical Center, Dallas, Texas. 22. Division of Child Neurology, Department of Pediatrics, Mott Children's Hospital, University of Michigan, Ann Arbor, Michigan. 23. Minnesota Epilepsy Group, Saint Paul, Minnesota. 24. Departamento de Genética, Facultad de Medicina, Udelar, Uruguay. 25. HighPoint Neurology Associates, Hendersonville, Tennessee. 26. Department of Pediatric Neurology, Hospital Universitario Quirónsalud and Universidad Europea de Madrid, Madrid, Spain. 27. Department of Neurology, Perth Children's Hospital, Western Australia, Australia; School of Paediatrics and Child Health, University of Western Australia, Australia. 28. Department of Pediatrics, Section of Neurology and Developmental Neuroscience, and Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children's Hospital, Houston, Texas. 29. Department of Biological Sciences, University of Massachusetts Lowell, Lowell, Massachusetts. 30. Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania. 31. Murdoch Children's Research Institute, The Royal Children's Hospital, Victoria, Australia; Institute for Molecular Bioscience, The University of Queensland, Queensland, Australia. 32. Departments of Pediatrics and Neurology & The Board of Governors Regenerative Medicine Institute, Cedars Sinai Medical Center, Los Angeles, California. 33. Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas. Electronic address: yazarate@uams.edu.
Abstract
BACKGROUND: Seizures are an under-reported feature of the SATB2-associated syndrome phenotype. We describe the electroencephalographic findings and seizure semiology and treatment in a population of individuals with SATB2-associated syndrome. METHODS: We performed a retrospective review of 101 individuals with SATB2-associated syndrome who were reported to have had a previous electroencephalographic study to identify those who had at least one reported abnormal result. For completeness, a supplemental survey was distributed to the caregivers and input from the treating neurologist was obtained whenever possible. RESULTS: Forty-one subjects were identified as having at least one prior abnormal electroencephalography. Thirty-eight individuals (93%) had epileptiform discharges, 28 (74%) with central localization. Sleep stages were included as part of the electroencephalographies performed in 31 individuals (76%), and epileptiform activity was recorded during sleep in all instances (100%). Definite clinical seizures were diagnosed in 17 individuals (42%) with a mean age of onset of 3.2 years (four months to six years), and focal seizures were the most common type of seizure observed (42%). Six subjects with definite clinical seizures needed polytherapy (35%). Delayed myelination and/or abnormal white matter hyperintensities were seen on neuroimaging in 19 individuals (61%). CONCLUSIONS: Epileptiform abnormalities are commonly seen in individuals with SATB2-associated syndrome. A baseline electroencephalography that preferably includes sleep stages is recommended during the initial evaluation of all individuals with SATB2-associated syndrome, regardless of clinical suspicion of epilepsy.
BACKGROUND:Seizures are an under-reported feature of the SATB2-associated syndrome phenotype. We describe the electroencephalographic findings and seizure semiology and treatment in a population of individuals with SATB2-associated syndrome. METHODS: We performed a retrospective review of 101 individuals with SATB2-associated syndrome who were reported to have had a previous electroencephalographic study to identify those who had at least one reported abnormal result. For completeness, a supplemental survey was distributed to the caregivers and input from the treating neurologist was obtained whenever possible. RESULTS: Forty-one subjects were identified as having at least one prior abnormal electroencephalography. Thirty-eight individuals (93%) had epileptiform discharges, 28 (74%) with central localization. Sleep stages were included as part of the electroencephalographies performed in 31 individuals (76%), and epileptiform activity was recorded during sleep in all instances (100%). Definite clinical seizures were diagnosed in 17 individuals (42%) with a mean age of onset of 3.2 years (four months to six years), and focal seizures were the most common type of seizure observed (42%). Six subjects with definite clinical seizures needed polytherapy (35%). Delayed myelination and/or abnormal white matter hyperintensities were seen on neuroimaging in 19 individuals (61%). CONCLUSIONS:Epileptiform abnormalities are commonly seen in individuals with SATB2-associated syndrome. A baseline electroencephalography that preferably includes sleep stages is recommended during the initial evaluation of all individuals with SATB2-associated syndrome, regardless of clinical suspicion of epilepsy.