Cardiovascular autonomic dysfunction in children and adolescents with Rett syndrome

Publication date: Available online 17 January 2017
Source:Pediatric Neurology
Author(s): Ajay Kumar, Ashok Jaryal, Sheffali Gulati, Biswaroop Chakrabarty, Akanksha Singh, K.K. Deepak, R.M. Pandey, Neerja Gupta, Savita Sapra, Madhulika Kabra, Rajni Khajuria
IntroductionAutonomic dysfunctions are common in children with Rett syndrome. They usually manifest with agitation, persistent screaming, constipation, gastroesophageal reflux, aerophagia, hyperventilation and breath holding spells. Cardiovascular autonomic dysfunction are known which at times may result in fatal arrhythmias. Many of these events are mistaken as seizures and treated with antiepileptics.MethodsThe current study was conducted in a tertiary care teaching hospital in north India over a 6 month period. MeCP2 mutation positive, 24 cases with Rett syndrome and 24 healthy age matched girls, were evaluated for cardiovascular autonomic dysfunction { heart rate variability (HRV), head up tilt (HUT) test and cold pressor test (CPT)}.ResultsThe mean age in years was 9.06 (+/- 3.4) and 9.75 (+/- 3.13) for patients and controls respectively. The HRV contributed independently by parasympathetic and sympathetic nervous system was significantly reduced in cases as compared to controls (p=0.033 and p=0.001 respectively). There was significant sympathovagal imbalance with sympathetic overactivity in cases as compared to controls (p=0.001). The mean longest QTc interval was significantly prolonged in cases compared to controls (p=0.001). CPT and HUT could be done in 16 RTT patients (due to poor cooperation) and in all 24 controls. The change in blood pressure during CPT and HUT was not significantly different in cases and controls.ConclusionChildren with Rett syndrome were observed to have significant cardiovascular autonomic dysfunction in the form of sympathetic overactivity, parasympathetic underactivity and sympathovagal imbalance. This has got important therapeutic and outcome related implications.



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