Autonomic dysfunction and sudden death in Rett Syndrome

Congratulations to Professor Santosh and colleagues at the Department of Child and Adolescent Psychiatry, King’s College London and South London and Maudsley NHS Foundation Trust who have recently had their article on autonomic dysfunction and sudden death published in the Journal of Psychiatry and Neuroscience.

Here, Dr Jatinder Singh who is part of the research team at King’s College London and one of the authors of the paper, explains the findings to us in more detail:

What did the authors set out to do?

Autonomic dysfunction or a problem in the autonomic nervous system is a key feature of Emotional, Behavioural and Autonomic Dysregulation (EBAD) in Rett patients. EBAD can emerge with a range of symptoms in patients and one way to manage it is to find out more about its underlying autonomic features. Yet, despite numerous excellent studies published on autonomic dysfunction in the last two decades, the findings are scattered, and it is difficult to identify common themes that could inform the wider Rett community. We therefore, wanted to explore autonomic dysfunction in Rett patients, to identify common themes and the associated risk factors.

Why is this important?

The autonomic impairment might play a key role in initiating events that cause sudden unexpected cardiac death in Rett patients. Sudden death occurs in about 25% of Rett patients, and we wanted to identify the risk factors involved.

What they found

By pooling all the information sources together, we identified themes associated with brainstem vulnerability, electrical imbalance of the cardiovascular system and specific changes in neurochemicals that all contribute to the problems in the nervous system of Rett patients.

These themes allowed us to identify the common autonomic risk factors that might trigger sudden death in Rett patients and place it in a clinical context.

What can be done to reduce the risk and what should families be aware of?

While there are other risk factors associated with sudden death it is likely that the underlying autonomic impairment in Rett may increase the probability of it.

Patients who present with a combination of factors such as those with significant breathing issues (hyperventilation/breath-holding), uncontrolled generalised epileptic seizures and QT prolongation might be at increased risk. In this case, medications that prolong QT and those that might depress breathing must be used with extreme caution.

What does this mean for our children and adults living with Rett Syndrome today?

It means that there is hope and optimism, and perhaps a way forward to reduce sudden death in Rett. By discussing the clinical management to reduce sudden death in this vulnerable population, we hope that we have provided much-needed information to families, carers, clinicians and the wider Rett community on this vital issue.

The full article, entitled, Autonomic Dysfunction and Sudden Death in Patients with Rett Syndrome: A Systematic Review’ can be read here: http://jpn.ca/45-1-190033/