Y. Khan et al., SLEEP STUDIES AND SUPPORTIVE VENTILATORY TREATMENT IN PATIENTS WITH CONGENITAL MUSCLE DISORDERS, Archives of Disease in Childhood, 74(3), 1996, pp. 195-200
Eight ambulant children aged 6-13 years, four with congenital myopathy
, two with congenital muscular dystrophy and two with the rigid spine
syndrome, presented with recurrent chest infections, morning headaches
, shallow breathing at night, or respiratory failure. Polysomnography
confirmed the presence of nocturnal hypoxaemia with oxygen saturation
on average less than 90% for 49% of sleep and less than 80% for 19% of
sleep accompanied with severe hypoventilation. Additionally there was
sleep disturbance characterised by an increased number of wake epochs
from deep sleep (in comparison to 10 non-hypoxaemic subjects). The se
verity of sleep hypoxaemia did not correlate with symptoms. Treatment
with night time nasal ventilation was started and repeat polysomnograp
hy showed normal overnight oxygen saturation and a reduced number of w
ake epochs during deep sleep. It is important to be vigilant for sleep
hypoventilation in these patients and sleep studies should be part of
the routine respiratory evaluation. Treatment with nasal ventilation
is effective in reversing the nocturnal respiratory failure without si
gnificant disturbance to life style.