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Critical mass in rare diseases - an innovative internet approach

The internet is emerging as a valuable tool for scientists to gather data for critical research into rare diseases.

How can clinical ethics guide the management of comorbidities in the child with Rett syndrome?

This paper reviews the disorder Rett syndrome and evidence for the management of scoliosis and poor growth within a clinical ethics framework

Facilitators and Barriers of Participation in “Uptime” Activities in Girls and Women With Rett Syndrome: Perspectives From Parents and Professionals

This study explored facilitators and barriers to "uptime" (non-sedentary) activities in Danish girls and women with Rett syndrome

Spinal fusion in girls with Rett syndrome: Post-operative recovery and family experiences

Rett syndrome is a severe neurodevelopmental disorder mainly affecting females and scoliosis is a common co-morbidity. Spinal fusion may be recommended if...

The diagnostic odyssey to Rett syndrome: The experience of an Australian family

The diagnosis of a rare disorder is dependent on the clinician's particular knowledge and experience, and can be challenging when the presentation is variable.

Barriers to diagnosis of a rare neurological disorder in China-Lived experiences of Rett syndrome families

Fourteen of 74 Chinese families known to the International Rett Syndrome Phenotype Database participated in this qualitative study.

Community participation: Conversations with parent-Carers of young women with Rett syndrome

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

Use of equipment and respite services and caregiver health among Australian families living with Rett syndrome

This study assessed factors that could influence equipment and respite services use among Australian families caring for a girl/woman with Rett syndrome and...

Altered attainment of developmental milestones influences the age of diagnosis of rett syndrome

This study describes the attainment of gross developmental milestones and regression, and assesses the relationships between genotype and age at diagnosis.

Global research for rare disorder

The Kids Research Institute Australia researchers set out on a worldwide search to find out all they could about Rett syndrome, establishing databases and creating awareness.