Rett Syndrome: Clinical and Electrophysiologic Aspects

• Published in: Pediatric neurology Vol. 36; no. 2; pp. 95 - 100
• Main Authors: Moser, Sonya Jourdan, MD, Weber, Peter, MD, Lütschg, Juerg, MD
• Format: Journal Article
• Language: English
• Published: New York, NY Elsevier Inc 01.02.2007; Elsevier
• Subjects: Anticonvulsants - therapeutic use; Biological and medical sciences; Child; Child, Preschool; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Drug Resistance; Electroencephalography; Epilepsies, Myoclonic - diagnosis; Epilepsies, Myoclonic - drug therapy; Epilepsies, Myoclonic - etiology; Epilepsy - diagnosis; Epilepsy - drug therapy; Epilepsy - etiology; Epilepsy, Absence - diagnosis; Epilepsy, Absence - drug therapy; Epilepsy, Absence - etiology; Epilepsy, Complex Partial - diagnosis; Epilepsy, Complex Partial - drug therapy; Epilepsy, Complex Partial - etiology; Epilepsy, Generalized - diagnosis; Epilepsy, Generalized - drug therapy; Epilepsy, Generalized - etiology; Epilepsy, Tonic-Clonic - diagnosis; Epilepsy, Tonic-Clonic - drug therapy; Epilepsy, Tonic-Clonic - etiology; Female; Humans; Malformations of the nervous system; Medical sciences; Neurology; Pediatrics; Retrospective Studies; Rett Syndrome - complications; Rett Syndrome - diagnosis; Rett Syndrome - physiopathology; Nervous system diseases; Degenerative disease; Central nervous system disease; Rett syndrome; Cerebral disorder; Genetic disease
• ISSN: 0887-8994; 1873-5150
• DOI: 10.1016/j.pediatrneurol.2006.10.003

Rett syndrome is a neurodevelopmental disorder that almost exclusively affects females. The clinical course as well as the electroencephalogram pattern are characteristic and have been correlated to the clinical stages of the disease. Sixty to 70 percent of the patients develop epilepsy. The aim of this retrospective study was to investigate the correlation between clinical stages and electroencephalogram stages and to more specifically correlate epileptic activity in electroencephalograms with the clinical symptoms of patients. The clinical development and electroencephalogram results of 11 patients diagnosed with Rett syndrome between 1 and 33 years old are compared. In 8 of 11 patients, a correlation was found between electroencephalogram stage and clinical stage. In three of them, epileptic activity in the electroencephalogram was not associated with clinical seizures. Some typical symptoms of Rett patients (hand stereotypies, vacant spells) can be difficult to differentiate from seizures. Therefore application of antiepileptic treatment should be well evaluated, as the clinical course is decisive.