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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
CDKL5 deficiency disorder: clinical features, diagnosis, and managementCDKL5 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.
Research
Associations between genotype, phenotype and behaviours measured by the Rett syndrome behaviour questionnaire in Rett syndromeRett 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
Burden of illness in Rett syndrome: initial evaluation of a disorder-specific caregiver surveyRett syndrome (RTT) is a severe X-linked neurodevelopmental disorder associated with multiple neurologic impairments. Previous studies have shown challenges to the quality of life of individuals with RTT and their caregivers. However, instruments applied to quantify disease burden have not adequately captured the impact of these impairments on affected individuals and their families. Consequently, an international collaboration of stakeholders aimed at evaluating Burden of Illness in RTT was organized.
Research
Longitudinal Evaluation of the Stability of Hand Function in Rett SyndromeWe investigated the longitudinal stability of hand function in Rett syndrome and to analyze further the relationships between stability of hand function and genotype, age, and walking ability. Study design: Longitudinal video data of functional abilities of individuals with genetically confirmed Rett syndrome were collected by families of individuals registered with the Australian Rett Syndrome Database.
Research
Using directed-content analysis to identify a framework for understanding quality of life in adults with Rett syndromeRett 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.
Improving the lives of children with a disability and their families sits at the core of our team.