Epileptic seizures, movement disorders, and breathing disturbances in Rett syndrome: diagnostic relevance of video-polygraphy

Epilepsy Behav. 2012 Nov;25(3):401-7. doi: 10.1016/j.yebeh.2012.08.033. Epub 2012 Oct 26.


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.

MeSH terms

  • Adolescent
  • Child
  • Electrocardiography
  • Electrodiagnosis / methods*
  • Electroencephalography
  • Electromyography
  • Epilepsy / diagnosis*
  • Epilepsy / etiology
  • Female
  • Humans
  • Male
  • Movement Disorders / diagnosis*
  • Movement Disorders / etiology
  • Respiration Disorders / diagnosis*
  • Respiration Disorders / etiology
  • Rett Syndrome / complications
  • Video Recording / methods*
  • Young Adult