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Research

Rett Syndrome: Revised diagnostic criteria and nomenclature

The purpose of this work was to revise and clarify 2002 consensus criteria for the diagnosis of RTT in anticipation of treatment trials.

Research

InterRett, a model for international data collection in a rare genetic disorder

This study compared socio-demographic, clinical and genetic characteristics of the international database, InterRett, and the population-based Australian...

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Stereotypical hand movements in 144 subjects with Rett syndrome from the population-based Australian database

Stereotypic hand movements are a feature of Rett Syndrome but few studies have observed their nature systematically.

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The increasing prevalence of reported diagnoses of childhood psychiatric disorders: a descriptive multinational comparison

The objective of this study is to compare the time trend of reported diagnoses of autism spectrum disorder, hyperkinetic disorder, Tourette's syndrome, and...

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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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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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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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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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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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Overview of health issues in school-aged children with Down Syndrome

Overview of Health Issues in School-aged Children with Down Syndrome