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The development of research partnerships is a priority for InterRett, with centres or clinicians with access to large numbers of patients with Rett syndrome.

Research

Rett syndrome is a genetically caused neurodevelopmental disorder associated with functional deficits and comorbidities. This study investigated relationships between genotype, functional abilities and comorbidities and quality of life in Rett syndrome.

We aim to ensure that high quality outcome measures are available to evaluate treatments and services for children with disability rigorously. We aim to translate our research into resources to support families, carers and clinicians.

People

Principal Research Fellow

Research

Intellectual and developmental disabilities (IDD) are varied in their nature and presentation. Barriers to oral healthcare are reported in studies of general populations with IDD but these may not reflect the barriers experienced by individuals with rare disorders such as Rett syndrome.

Research

Multiplex ligation-dependent Probe Amplification (MLPA) has become available for the detection of a large deletion on the MECP2 gene.

Research

Intellectual disability affects more than 1.5% of the population of children in developing countries yet we know little about the daily lives and support...

Research

Our findings provide additional insight into the early clinical profile of Rett syndrome.

Research

In this paper, the issue of people with profound intellectual and multiple disabilities facing significant challenges to participating in their community is...

Research

This study aimed to compare the phenotype of Rett syndrome cases with C-terminal deletions to that of cases with different MECP2 mutations