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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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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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Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseasesGenetic diagnosis plays a crucial role in rare diseases, particularly with the increasing availability of emerging and accessible treatments. The International Rare Diseases Research Consortium (IRDiRC) has set its primary goal as: "Ensuring that all patients who present with a suspected rare disease receive a diagnosis within one year if their disorder is documented in the medical literature".
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The effect of CFTR modulators on structural lung disease in cystic fibrosisNewly developed quantitative chest computed tomography (CT) outcomes designed specifically to assess structural abnormalities related to cystic fibrosis (CF) lung disease are now available. CFTR modulators potentially can reduce some structural lung abnormalities. We aimed to investigate the effect of CFTR modulators on structural lung disease progression using different quantitative CT analysis methods specific for people with CF (PwCF).
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Acceptability of OP/Na swabbing for SARS-CoV-2: a prospective observational cohort surveillance study in Western Australian schoolsWhen the COVID-19 pandemic was declared, Governments responded with lockdown and isolation measures to combat viral spread, including the closure of many schools. More than a year later, widespread screening for SARS-CoV-2 is critical to allow schools and other institutions to remain open.
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Demographic and clinical predictors of vitamin D status in pregnant women tested for deficiency in Western AustraliaThis study aimed to describe the vitamin D status of pregnant women in Western Australia and identify predictors of deficiency in pregnancy. A cross-sectional study was conducted using linked data from statewide administrative data collections.
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Comorbidities and quality of life in children with intellectual disabilityMany children with intellectual disability live with medical comorbidities. This study examined the impacts of comorbidities on quality of life (QOL) of children with intellectual disabilities and whether impacts varied with caregiver perceptions that medical needs had been met.
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Cohort Profile: The ORIGINS pregnancy and birth cohortDesiree Dr Jackie Susan Lisa Zenobia Silva Davis Prescott Gibson Talati MBBS, FRACP, MPH, PhD BSc (Hons), PGradDipHlthProm, PhD MBBS BMedSci PhD
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Experience of gastrostomy using a quality care framework: The example of rett syndromeGastrostomy assisted the management of feeding difficulties and poor weight gain, and was acceptable to families
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Analytical bias in the measurement of serum 25-hydroxyVitamin D concentrations impairs assessment of Vitamin D statusThis publication demonstrated considerable differences in the measurement of 25-hydroxyvitamin D concentrations compared with a certified laboratory, even...