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Research
Family satisfaction following spinal fusion in Rett syndromeFamilies participating in the population-based and longitudinal Australian Rett Syndrome Database whose daughter had undergone spinal fusion provided data on...
Research
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...
Research
Health conditions and their impact among adolescents and young adults with down syndromeThe aim of this study was to examine the prevalence of medical conditions and use of health services among young adults with Down syndrome and describe the...
Research
Maternal Conditions and Perinatal Characteristics Associated with Autism Spectrum Disorder and Intellectual DisabilityFindings show that indicators of a poor intrauterine environment are associated with an elevated risk of ID, while for ASD, and particularly ASD without ID,...
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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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Perspectives on hand function in girls and women with Rett syndromeHand function is particularly affected and we discuss theoretical and practical perspectives for optimising hand function in Rett syndrome.
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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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What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?The MECP2 mutations occurring in the severe neurological disorder Rett syndrome are predominantly de novo, with rare familial cases. The aims of this study...
Research
Barriers to diagnosis of a rare neurological disorder in China-Lived experiences of Rett syndrome familiesFourteen of 74 Chinese families known to the International Rett Syndrome Phenotype Database participated in this qualitative study.
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The diagnostic odyssey to Rett syndrome: The experience of an Australian familyThe diagnosis of a rare disorder is dependent on the clinician's particular knowledge and experience, and can be challenging when the presentation is variable.