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Research

Prevalence, clinical investigation, and management of gallbladder disease in Rett syndrome

This study determined the prevalence of cholelithiasis and/or cholecystectomy in Rett syndrome, described gallbladder function in a clinical cohort, and...

Research

Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome

This study investigates relationships between methyl-CpG-binding protein 2 gene (MECP2) mutation type and speech-language abilities in girls with Rett syndrome.

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Hospital admissions and gestational age at birth: 18 Years of follow up in Western Australia

This effect of gestational age on rehospitalisation for infants born preterm is highest in the first year post-discharge, but almost disappeared by adolescence

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Twenty-Five Year Survival of Children with Intellectual Disability in Western Australia

To investigate survival up to early adulthood for children with intellectual disability and compare their risk of mortality with that of children without intellectual disability.

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Incidence and prevalence of falls in adults with intellectual disability living in the community: a systematic review protocol.

Our objective is to synthesize the best available evidence to determine the incidence and prevalence of falls in intellectually disabled adults in the community

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Family satisfaction following spinal fusion in Rett syndrome

We evaluated family satisfaction following spinal fusion in girls with Rett syndrome

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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

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Quantitative and qualitative insights into the experiences of children with Rett syndrome and their families

Early presentation of Rett syndrome, including regression and challenges for families seeking a diagnosis

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Expanding the clinical picture of the MECP2 Duplication syndrome

People with two or more copies of MECP2 gene, located at Xq28, share clinical features and a distinct facial phenotype called MECP2 Duplication syndrome.

Research

Caesarean section and risk of autism across gestational age: a multi-national cohort study of 5 million births

The positive association between caesarean section (CS) and autism spectrum disorder (ASD) may be attributed to preterm delivery.