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Our research covers a broad range of areas from the influence of mutation type on health outcomes to factors impacting on the lives of familes.

Regression, including the loss of previously learned skills, such as hand function and communication skills, is one of the most suggestive features of Rett synd

Our study investigated the quality of measurements obtained using the Rett Syndrome Gross Motor Scale.

We wanted to compare the frequency of fracture episodes, and factors associated with a fracture, in females with Rett syndrome, compared to general population.

Our study investigated the impacts of spinal fusion on survival and the risk of developing respiratory infections in females with Rett syndrome.

We wanted to examine the effects of spinal fusion surgery to treat scoliosis on the functional abilities of girls and women with Rett syndrome.

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 (RTT) is a rare neurodevelopmental disorder with developmental impairments, comorbidities, and abnormal behaviours such as hand stereotypies and emotional features. The Rett Syndrome Behaviour Questionnaire (RSBQ) was developed to describe the behavioural and emotional features of RTT.

Research

Rett syndrome (RTT) is a rare neurodevelopmental disorder mainly affecting females and is caused by a mutation in the MECP2 gene. Recent research identified the domains of quality of life (QOL) important for children with RTT but there has been no investigation of domains important for adults. This qualitative study explored QOL in adults with RTT and compared domains with those previously identified for children.

Research

CDKL5 deficiency disorder (CDD) was first identified as a cause of human disease in 2004. Although initially considered a variant of Rett syndrome, CDD is now recognised as an independent disorder and classified as a developmental epileptic encephalopathy.