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Research

Investigating falls in adults with intellectual disability living in community settings and their experiences of post-fall care services

This study will determine the rate of falls among older adults with ID living in community based settings, which will assist to identify the extent of this problem

Research

Impact of biobanks on research outcomes in rare diseases: a systematic review

This review made the important observation that registries with biobanks had the function of both stand-alone registries and stand-alone rare disease biobanks

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Changes in risk factors for preterm birth in Western Australia 1984-2006

Marked increases in maternal age and primiparous births were observed. A four-fold increase in the rates of pre-existing medical complications over time...

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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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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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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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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,...

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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.

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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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Unpacking the complex nature of the autism epidemic

The etiology of autism spectrum disorders is unknown but there are claims of increasing prevalence in many countries.