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Atypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndromeThere is often delay between onset of Rett syndrome symptoms and its diagnosis, possibly related to symptom presentation or socio-demographic factors.
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Hip displacement and scoliosis in Rett syndrome - screening is requiredThe prevalence of hip displacement and spinal deformity in a clinic population of females with Rett syndrome to define implications for screening and management
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The impact of having a sibling with an intellectual disability:parental perspectives in two disordersThis study describes the impact of having a sibling with Down syndrome or Rett syndrome using a questionnaire completed by parents.
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Physical and mental health of mothers caring for a child with Rett syndromeThis 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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The Sibling ProjectThe Sibling Project focuses on the wellbeing, relationships and needs of children, adolescents and emerging adults who have a sibling with a developmental disability.
Developmental and epileptic encephalopathy (DEE) conditions are rare, and most have a genetic cause.
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Prevalence, clinical investigation, and management of gallbladder disease in Rett syndromeThis study determined the prevalence of cholelithiasis and/or cholecystectomy in Rett syndrome, described gallbladder function in a clinical cohort, and...
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Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndromeThis 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 AustraliaThis 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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Online Health Literacy Resources for People With Intellectual Disability: A Grey Literature Scoping ReviewPeople with intellectual disability experience higher rates of physical and mental health problems than those without intellectual disability. Health literacy includes accessing, understanding, appraising and applying health information. Improving health literacy is associated with better health outcomes. The internet is a primary source of health information for many people. This study aimed to evaluate available online health resources for people with intellectual disability and their families to understand information gaps.