title: Epileptic seizures, movement disorders, and breathing disturbances in Rett syndrome: diagnostic relevance of video-polygraphy.
abstract: Epileptic seizures, movement disorders and breathing disturbances may be observed in Rett syndrome, and correct diagnosis is mandatory for the management. We evaluated the usefulness of video-polygraphy in the differential diagnosis between epileptic and non-epileptic paroxysmal events in eight patients with Rett syndrome. Based on video analysis, myoclonic seizures were usually misdiagnosed as movement disorders and stereotypies; the events identified by parents as generalized tonic-clonic seizures included episodes of motor activity and breathing abnormality. Myoclonic seizures aggravated by inappropriate treatment were evident in four patients; hyperventilation and apnea during wakefulness were present in all patients, while central sleep apneas were present in one patient; sinus tachycardia and cardiac arrhythmias emerged in six patients; cortical myoclonus was disclosed in five patients. In Rett syndrome, video-polygraphy is essential in characterizing the clinical features of paroxysmal events, determining autonomic dysfunctions, documenting myoclonic motor phenomena, and evaluating the responses to the treatment of epilepsy.
authors.affiliation: Epilepsy Center, Clinic of Nervous System Diseases, University of Foggia, Riuniti Hospital, Foggia, Italy. giudorsi@yahoo.it
authors.forename: Giuseppe
authors.initials: G
authors.lastname: d'Orsi
authors.forename: Marina
authors.initials: M
authors.lastname: Trivisano
authors.forename: Concetta
authors.initials: C
authors.lastname: Luisi
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Demaio
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Di Claudio
authors.forename: Maria Grazia
authors.initials: MG
authors.lastname: Pascarella
authors.forename: Vittorio
authors.initials: V
authors.lastname: Sciruicchio
authors.forename: Dante
authors.initials: D
authors.lastname: Galeone
authors.forename: Angela
authors.initials: A
authors.lastname: La Neve
authors.forename: Francesco
authors.initials: F
authors.lastname: Scarpelli
authors.forename: Teresa
authors.initials: T
authors.lastname: Calvario
authors.forename: Mauro
authors.initials: M
authors.lastname: Minervini
authors.forename: Lorita
authors.initials: L
authors.lastname: La Selva
authors.forename: Luigi M
authors.initials: LM
authors.lastname: Specchio
mesh_terms: D000293:Adolescent; D002648:Child; D004562:Electrocardiography; D004568:Electrodiagnosis / Q000379:methods*; D004569:Electroencephalography; D004576:Electromyography; D004827:Epilepsy / Q000175:diagnosis* / Q000209:etiology; D005260:Female; D006801:Humans; D008297:Male; D009069:Movement Disorders / Q000175:diagnosis* / Q000209:etiology; D012120:Respiration Disorders / Q000175:diagnosis* / Q000209:etiology; D015518:Rett Syndrome / Q000150:complications; D014741:Video Recording / Q000379:methods*; D055815:Young Adult