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

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

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.

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

While individual diseases are rare, as a group, rare diseases are common. Recent estimates suggest that between 3% and 6% of the world’s population are affected by rare disease.

News & Events

If there’s one thing modern researchers and health professionals now understand, it’s that for so many diseases and conditions affecting children and adolescents, early intervention is crucial.

News & Events

A research collaboration between Australia and Israel has identified a genetic variation that influences the severity of symptoms in Rett syndrome.

News & Events

New guidelines a model for better management of rare conditions

Research

The Rett Syndrome Gross Motor Scale (RSGMS) is an observational measurement, assessing gross motor skills in individuals with Rett syndrome. A Dutch version is lacking. The current study aims to translate and cross-culturally adapt the original RSMGS to Dutch and assess its inter-rater and intra-rater reliability.