CORRELATION OF ELECTROENCEPHALOGRAM, RESPIRATION AND MOVEMENT IN THE RETT SYNDROME

Day time video records of 14 girls with the Rett syndrome (RS) (6–17, mean 7 years) were analysed to correlate episodic abnormalities in respiration, movement and electroencephalograms (EEG). Records were compared with those of 12 healthy girls (6–18, median 14 years) who hyperventilated voluntarily. Three RS girls (6–7 years) had minimal respiratory dysrhythmia and showed no correlation between EEG respiration and movement. The other 11 RS girls (6–17 years) had severe awake respiratory dysrhythmia; 10 showing hyperventilation (with hypocapnia) which alternated with active expiratory apnoeic pauses and one with the latter only. All had periods of awake regular breathing with normal respiratory gases. In these girls EEG showed non-epileptic generalised slow activity some of which was paroxysmal. In the six youngest (6–10 years) of these 11 RS girls, non-epileptic paroxysms of EEG slow activity at 1½–4Hz occurred and were associated with periods of normal breathing and normal pCO2 levels whether girls were alert, drowsy or asleep, but were uncommon during episodes of hyperventilation (and hypocapnia). In four of these girls the EEG paroxysms occupied ≦ 7–5% of the time during periods of respiratory dysrhythmia (81 minutes) and 8–100% of the time during alert periods with normal breathing (29 minutes), p≦ 0.001 for this difference. Short bursts of EEG slowing occasionally followed prolonged apnoeic pauses. In two cases brief partial complex seizures occurred. In five of these girls stereotypic movements exacerbated during episodes of respiratory dysrhythmia and reduced during normal breathing. In four clear demarcation of these changes allowed comparison of time spent in vigorous stereotyped movement during periods of awake normal and dysrhythmic breathing (p<0.01 for this difference). In the older girls (11–17years) stereotyped movements did not fluctuate with periods of respiratory dysrhythmia. Fairly persistent generalised, largely unreactive theta activity at 4–6 Hz was present in all these girls and in one tended to increase at the end of apnoeic pauses. The consistent appearance in the younger girls of episodes of non-epileptic EEG slow activity during normal breathing, their relative absence during hyperventilation and the association between episodes of respiratory dysrhythmia and exacerbation of stereotypic movement helps to define the underlying neurological mechanisms in the Rett syndrome. © 1990, All rights reserved.