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Research

Laryngeal and respiratory reflexes are vitally important defense mechanisms against foreign body aspiration, safeguarding airway patency, and ventilation

One of the many reasons for setting up the International CDKL5 Disorder Database was to learn more about this condition.

With the help of clinicians and families who have children with Rett syndrome, our research aims to improve understanding of Rett syndrome.

Using information from the Australian Rett Syndrome database, we coded symptoms according to severity scales and grouped by type and location of mutation.

Therefore, we wanted to compare the features of girls and women with a C-terminal deletion with those with other MECP2 mutations.

In order to help doctors and families reduce the risk of fractures, we developed clinical guidelines for managing bone health in Rett syndrome.

We compared information on the life expectancy of Dr Rett's original group in 1966 with information in the Australian Rett Syndrome Database.

We investigated the occurrence of different types of hand stereotypies and whether they were more frequent in one hand or the other.

This study used information from international Rett syndrome database to investigate the relationship between clinical characteristics and different mutations.

We investigated the occurrence of altered pain sensitivity as well as how these altered reactions to pain were observed during daily life.