title: Electroencephalographic patterns during sleep in children with chromosome 15q11.2-13.1 duplications (Dup15q).
abstract: Our objective was to define the EEG features during sleep of children with neurodevelopmental disorders due to copy number gains of 15q11-q13 (Dup15q). We retrospectively reviewed continuous EEG recordings of 42 children with Dup15q (mean age: eight years, 32 with idic15), and data collected included background activity, interictal epileptiform discharges, sleep organization, and ictal activity. Three patterns were recognized: Pattern 1: Alpha–delta sleep was noted in 14 children (33%), not associated with any clinical changes. Pattern 2: Electrical status epilepticus in sleep was noted in 15 children (35%), all diagnosed with treatmentresistant epilepsy. Thirteen of the 15 children had clinical seizures. Pattern 3: Frequent bursts of high amplitude bifrontal predominant, paroxysmal fast activity (12–15 Hz) during non-REM sleep was noted in 15 children (35%). All 15 children had treatment-resistant epilepsy. This is the first report of electroencephalographic patterns during sleep of children with Dup15q reporting alpha-delta rhythms, CSWS, and high amplitude fast frequencies. Alpha-delta rhythms are described in children with dysautonomia and/or mood disorders and CSWS in children with developmental regression. The significance of these findings in cognitive function and epilepsy for the children in our cohort needs to be determined with follow-up studies.
authors.affiliation: Minnesota Epilepsy Group, PA-Children's Hospitals and Clinics of Minnesota, 225 Smith Ave. N, St. 201, St. Paul, MN 55102, USA. Electronic address: arkdimi@hotmail.com.
authors.forename: Dimitrios
authors.initials: D
authors.lastname: Arkilo
authors.affiliation: Department of Neurology, NYU Langone Medical Center, New York University, 240 East 38th Street, 20th floor, New York, NY 10016, USA. Electronic address: od4@nyu.edu.
authors.forename: Orrin
authors.initials: O
authors.lastname: Devinsky
authors.affiliation: Comprehensive Epilepsy Program and Neuroscience Center, Le Bonheur Children's Hospital, 848 Adams Ave., Memphis, TN 38103, USA. Electronic address: bmudigoudar@hotmail.com.
authors.forename: Basanagoud
authors.initials: B
authors.lastname: Mudigoudar
authors.affiliation: Department of Pediatric Neurology, Vall d'Hebron Hospital, Universitat Autonoma de Barcelona, P. de la Vall d'Hebron, 119-129, 08035 Barcelona, Spain. Electronic address: susboronat@gmail.com.
authors.forename: Susana
authors.initials: S
authors.lastname: Boronat
authors.affiliation: Department of Pediatric Neurology, American Memorial Hospital, CHU Reims, 47 Rue Cognacq-Jay, 51100 Reims, France. Electronic address: meljennesson@yahoo.fr.
authors.forename: Melanie
authors.initials: M
authors.lastname: Jennesson
authors.affiliation: Department of Neurology, Massachusetts General Hospital, Harvard Medical School, 15 Parkman St., # 835, Boston, MA 02114, USA. Electronic address: ksassower@mgh.harvard.edu.
authors.forename: Kenneth
authors.initials: K
authors.lastname: Sassower
authors.affiliation: Noran Neurological Clinic, 2828 Chicago Ave. S, #200, Minneapolis, MN 55407, USA. Electronic address: dimiark@hotmail.com.
authors.forename: Okeanis Eleni
authors.initials: OE
authors.lastname: Vaou
authors.affiliation: Department of Pediatrics, Mattel Children's Hospital at UCLA, 757 Westwood Plaza, Los Angeles, CA 90095, USA. Electronic address: jlerner@mednet.ucla.edu.
authors.forename: Jason T
authors.initials: JT
authors.lastname: Lerner
authors.affiliation: Department of Neurology, UCLA Center for Autism Research and Treatment, 710 Westwood Plaza, Los Angeles, CA 90095, USA. Electronic address: sjeste@mednet.ucla.edu.
authors.forename: Shafali Spurling
authors.initials: SS
authors.lastname: Jeste
authors.affiliation: Dup15q Alliance, Fayetteville, NY 13066, USA. Electronic address: kadi.luchsinger@dup15q.org.
authors.forename: Kadi
authors.initials: K
authors.lastname: Luchsinger
authors.affiliation: Department of Neurology, Massachusetts General Hospital, Harvard Medical School, 15 Parkman St., # 835, Boston, MA 02114, USA. Electronic address: rthibert@mgh.harvard.edu.
authors.forename: Ronald
authors.initials: R
authors.lastname: Thibert
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders / Q000235:genetics; D002875:Chromosomes; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D003700:Delta Rhythm; D004569:Electroencephalography; D004827:Epilepsy / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D065886:Neurodevelopmental Disorders; D012189:Retrospective Studies; D012640:Seizures / Q000503:physiopathology*; D012890:Sleep / Q000235:genetics / Q000502:physiology*
keywords: Children; Dup15q syndrome; EEG patterns; Sleep