Breathing abnormalities in Rett syndrome
Irregular breathing patterns and abdominal bloating are prominent but poorly understood features of Rett syndome.
This study characterises the nature and severity of these autonomic abnormalities by age group and mutation type.
This manuscript has been published in The Journal of Neurodevelopmental Disorders:
Mackay J, Downs J, Wong K, Heyworth J, Epstein A, Leonard H. Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study. J Neurodev Disord. 2017;9(15).