Rett syndrome: critical examination of clinical features, serial EEG and video-monitoring in understanding and management.

We studied data on seizures, vacant spells and breathing dysrhythmia from the British Rett Survey and 150 electroencephalographic records from 78 classic cases, including 23 with prolonged synchronous recordings of EEG, respiration and movement. The proportion of abnormal records increased from 6 of 18 (33%) during the first 6 months of the regression period to 44 of 59 (75%) in the later period to 6 years, the increase in abnormality following rather than preceding the onset of regression. In young girls the EEG abnormality increased in sleep but decreased during episodic hyperventilation and breath-holding. Epileptogenic activity was commonly present without clinical seizures. Eleven vacant spells were monitored and were not epileptic but related to the breathing abnormality. Full monitoring is essential when supposed seizures are intractable. The intermittent EEG abnormality and behavioural changes indicate abnormal fluctuating arousal possibly of midbrain or brainstem origin.