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

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.

► To characterize paroxysmal events in Rett syndrome by means of video-polygraphy ► Video-polygraphy is essential to characterize the clinical features of seizures. ► Video-polygraphy is essential to define breathing and autonomic dysfunction. ► Video-polygraphy is essential to document motor phenomenon as myoclonus. ► Video-polygraphy is essential to evaluate the response of epilepsy to treatment.