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Research

Evaluation of the processes of family-centred care for young children with intellectual disability in Western Australia

Government early intervention services for children with intellectual disability (ID) in Western Australia have adopted the model of family-centred care.

Research

Guidelines for management of scoliosis in Rett syndrome patients based on expert consensus and clinical evidence

To develop guidelines for the clinical management of scoliosis in Rett syndrome through evidence review and consensus expert panel opinion.

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Parental experiences of scoliosis management in Rett syndrome

Scoliosis is the most common orthopaedic complication of Rett syndrome. Parents of affected individuals are vital partners in the clinical management...

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Sleep problems in Rett syndrome

Sleep problems are thought to occur commonly in Rett syndrome, but there has been little research on prevalence or natural history.

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Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband

Comprehensive genetic screening programs have led to the identification of pathogenic methyl-CpG-binding protein 2 (MECP2) mutations...

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The association between behaviour and genotype in Rett Syndrome using the Australian Rett Syndrome Database

This study compared the behavior profile of cases in the Australian Rett Syndrome Database (ARSD) with those in a British study using the Rett Syndrome...

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Choice making in Rett syndrome: a descriptive study using video data

We describe the choice-making abilities of girls and women with Rett syndrome.

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Parent-observed thematic data on quality of life in children with autism spectrum disorder

Parent observations provide an initial framework for understanding quality of life in autism spectrum disorder

Research

Impact of Gastrostomy Placement on Nutritional Status, Physical Health, and Parental Well-Being of Females with Rett Syndrome

Gastrostomy placement was associated with improvement in BMI in females with Rett syndrome, but its long-term impact on individuals and their families is unclear