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Research
Perspectives on hand function in girls and women with Rett syndromeHand function is particularly affected and we discuss theoretical and practical perspectives for optimising hand function in Rett syndrome.
Research
The experiences of mothers of young adults with an intellectual disability transitioning from secondary school to adult lifeThe transition from school to adulthood for young adults with an intellectual disability involves movement from a generally secure and supported school...
Research
What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?The MECP2 mutations occurring in the severe neurological disorder Rett syndrome are predominantly de novo, with rare familial cases. The aims of this study...
Research
Barriers to diagnosis of a rare neurological disorder in China-Lived experiences of Rett syndrome familiesFourteen of 74 Chinese families known to the International Rett Syndrome Phenotype Database participated in this qualitative study.
Research
The diagnostic odyssey to Rett syndrome: The experience of an Australian familyThe diagnosis of a rare disorder is dependent on the clinician's particular knowledge and experience, and can be challenging when the presentation is variable.
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
Thinking big to tackle kids’ brain developmentIf 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
New insight into Rett syndrome severityA 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 conditionsNew guidelines a model for better management of rare conditions
Be involved in the Sibling Snapshot Project! Researchers from The Kids Research Institute Australia are conducting research which explores the unique