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The CDKL5 Disorder

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

Areas of research

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

Investigating genotype - phenotype relationships in Rett syndrome using an international database

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

Refining the phenotype of common mutations

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

Updating the profile of C-terminal MECP2 deletions

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

Linking MECP2 and pain sensitivity

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

Survival with 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.

Stereotypical hand movements

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

Clinical guidelines for management of bone health in Rett syndrome based on expert consensus and available evidence

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

Resources

These resources include the best available evidence about the course of Rett syndrome and its management as well as practical information about family associations, specialist clinical centres and links to relevant websites.

News & Events

JRDF One Walk

Patients, families and our centre staff members took part in JDRF's One Walk last October to raise funds for type 1 diabetes research.

News & Events

For all of our budding young actors…

We are looking to create exciting new online resources for our families to utilise, which will include how-to videos, as well as patient perspective interviews.

News & Events

Interested in insulin pump therapy but not too sure where to start?

Here's a brief guide on how to apply for insulin pump therapy.

News & Events

Diabetes Australia app

Diabetes Australia have released an app to make living with or caring for someone with diabetes a little easier.

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Be involved

Find out how to participate in our research and community groups.

Research

Total population investigation of dental hospitalizations in Indigenous children under five years in Western Australia using linked data

The aim of this study was to compare dental hospital admissions in a total state birth population of Indigenous and non-Indigenous children aged under five...

Research

Reducing Rates of Severe Hypoglycemia in a Population-Based Cohort of Children and Adolescents With Type 1 Diabetes Over the Decade 2000–2009

The objective of this study was to examine rates of severe hypoglycemia (SH) in a large population-based cohort of children with type 1 diabetes and...

Research

Molecular surveillance of true nontypeable haemophilus influenzae: An evaluation of pcr screening assays

Unambiguous identification of nontypeable Haemophilus influenzae (NTHi) is not possible by conventional microbiology. Molecular characterisation of...