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Evaluation of the processes of family-centred care for young children with intellectual disability in Western AustraliaGovernment early intervention services for children with intellectual disability (ID) in Western Australia have adopted the model of family-centred care.
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Sleep problems in Rett syndromeSleep 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 probandComprehensive 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 DatabaseThis 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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Spinal fusion in girls with Rett syndrome: Post-operative recovery and family experiencesRett syndrome is a severe neurodevelopmental disorder mainly affecting females and scoliosis is a common co-morbidity. Spinal fusion may be recommended if...
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Association of gestational age at birth with reasons for subsequent hospitalisation: 18 Years of follow-up in a Western Australian population studyPreterm infants are at a higher risk of hospitalisation following discharge from the hospital after birth.
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The Western Australian family connections genealogical project: Detection of familial occurrences of single gene and chromosomal DisordersThis study utilised a Western Australian (WA) genealogical database for the identification of single gene and chromosome disorders among families.
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Admissions in Children with Down Syndrome: Experience of a Population-Based Cohort Followed from BirthThis study describes patterns of hospitalisations for children and young people with Down syndrome in Western Australia.
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The experiences of mothers of young adults with an intellectual disability transitioning from secondary school to adult lifeThe transition from school to adulthood for young adults with an intellectual disability involves movement from a generally secure and supported school...
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Guidelines for management of scoliosis in Rett syndrome patients based on expert consensus and clinical evidenceTo develop guidelines for the clinical management of scoliosis in Rett syndrome through evidence review and consensus expert panel opinion.