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Research

Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome

There were differences in the presentation of clinical features occurring in the CDKL5 disorder and in Rett syndrome.

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Population-based prevalence of intellectual disability and autism spectrum disorders in Western Australia

The prevalence of intellectual disability has risen in WA over the last 10 years with most of this increase due to mild or moderate intellectual disability

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Autism risk associated with parental age and with increasing difference in age between the parents

Increases in ASD was not only limited to advancing paternal or maternal age alone but also to differences parental age including younger or older similarly age

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Young people with intellectual disability transitioning to adulthood: Do behaviour trajectories differ in those with and without down syndrome

Changes in emotional and behavioural problems for young people with intellectual disability with and without Down syndrome as they transition into adulthood

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Health care utilization and costs for children and adults with duchenne muscular dystrophy

Annual economic cost of Duchenne Muscular Dystrophy was found to be high, reflecting a significant socioeconomic burden, especially in boys who reach adulthood

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Neonatal complications in public and private patients: A retrospective cohort study

Despite the rates of low Apgar scores being higher in public patients, the rates of special care admission were lower.

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Trends in the diagnosis of Rett syndrome in Australia

Modifications to diagnostic criteria and introduction of genetic testing have likely affected the pattern and timing of Rett syndrome diagnosis...

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Using a large international sample to investigate epilepsy in Rett syndrome

The aim of this study was to identify characteristics of epilepsy in Rett syndrome (RTT), and relationships between epilepsy and genotype.

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The conductive environment enhances gross motor function of girls with Rett syndrome. A pilot study

This study assessed the functional skills of three girls with RTT aged 35 years before and during participation in a CE programme.

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Resourceful and creative methods are necessary to research rare disorders

Our investigation used the infrastructure of InterRett, established in 2002 with dual aims of encour- aging international collaboration and ascertaining the...