Research Topics

Our translational research is cutting edge, bringing new hope for people with the condition and their families. We are working towards the goal of developing personalised treatments for every individual with Rett Syndrome.

We have a long standing pan-European collaborative approach to research with a number of themes:

Genotypic and phenotypic correlations

  • Development of robust objective measures for the different clinical phenotypes
  • Detailed genetic studies including the variants
  • Can genetic variation predict the type and severity of clinical phenotypes

Cardiorespiratory dysfunction

  • The role of respiration in somatic symptoms
  • Cardiorespiratory changes and their role in sudden unexpected death
  • Cardiorespiratory changes in sleep

Growth and Nutrition

  • Assessing & understanding the consequences of chronic malnutrition
  • The contribution of malnutrition to growth delay

Metabolic consequences

  • The role of carbon dioxide metabolism in somatic symptoms
  • The role of carbon dioxide metabolism in development

Communication

  • Developing robust methods for accurate assessment of communication abilities in the Rett   population
  • Correlation with other phenotypic measures

Assessment of the many episodic disorders seen in Rett Syndrome and their wider clinical relevance

  • Development of cortico-bulbar neurophysiology for accurate assessment of episodic events
  • Characterising the brainstem’s contribution to the clinical phenotypes

Treatment interventions including pharmacological, respiratory modulation, nutritional, mobility and brain stimulation

  • Use of buspirone in respiratory disorders
  • Use of BIPAP in respiratory dysfunction
  • Treatment strategies for nutritional enhancement
  • Role of postural reflexes and autonomic interventions in improving mobility
  • Role and consequences of VNS treatment for episodic attacks