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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...

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

An exploration of the use of eye gaze and gestures in females with rett syndrome

Eye gaze is used more frequently than gestures for communication, and this is related to age, MECP2 mutation type, and gross motor abilities

Video: One brave little girl's battle with Rett syndrome

Imagine your baby is developing normally, then suddenly she starts losing skills. Watch Marlee's story below and find out what researchers are doing.

Validating the rett syndrome gross motor scale

The Rett Syndrome Gross Motor Scale could be an appropriate measure of gross motor skills in clinical practice and clinical trials

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.