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Research

This project will explore in detail the role of two known risk factors for cerebral palsy: assisted reproductive technology and congenital anomalies.

The CIRCA DIEM study is a multicentre, prospective, open, blinded end-point (PROBE) parallel controlled study which aims to compare long term neuro-developmental outcomes of premature babies cared for in a cycled environment to premature babies who receive routine care in a non-cycled environment.

The Australian Rett Syndrome Study is based at The Kids Research Institute Australia located in Subiaco, Western Australia. This study was established in 1993.

Funded by the International Rett Syndrome Foundation, this international online database examines the clinical features and genetic characteristics.

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.

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

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.