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Parental perspectives on the communication abilities of their daughters with Rett syndrome

We interviewed 17 parents with a daughter with Rett syndrome to gain their perspectives on how their daughter communicates and barriers.

Clinical severity and X-chromosome inactivation

For this study, we examined how Rett syndrome characteristics can be affected by X-inactivation for 2 of the common types of mutation - p.R168X and p.T158M.

Feeding experiences and growth status in a Rett syndrome population

We set out to describe the feeding difficulties and nutrition of girls with Rett syndrome and to examine what factors may be influencing their nutrition.

Longitudinal hand function in Rett syndrome

Therefore, we used video data to examine changes in hand function over time. We also investigated what other factors might influence these changes.

Research

Change in Gross Motor Abilities of Girls and Women With Rett Syndrome Over a 3- to 4-Year Period

We describe change in gross motor function over 3 to 4 years for 70 subjects participating in the Australian Rett Syndrome Database

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Gastrointestinal dysmotility in rett syndrome

Through evidence review and the consensus of an expert panel, we developed recommendations for the clinical management of gastroesophageal reflux disease,...

Research

Rett syndrome: establishing a novel outcome measure for walking activity in an era of clinical trials for rare disorders

This study investigated the capacity of three accelerometer-type devices to measure walking activity in Rett syndrome

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Twenty years of surveillance in Rett syndrome: what does this tell us?

This study aimed to describe overall survival and adult health in those with Rett syndrome.

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Community participation for girls and women living with Rett syndrome

This paper aimed to describe the relationships between level of impairment and participation in community activities for girls and women with Rett syndrome.

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Linking MECP2 and pain sensitivity: the example of Rett syndrome

This study investigated the nature and prevalence of atypical pain responses in Rett syndrome and their relationships with specific MECP2 mutations.