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SMART Work Design: Accelerating the Diagnosis of Rare Diseases in the Western Australian Undiagnosed Diseases ProgramThe accurate and efficient diagnosis of rare diseases, many of which include congenital anomalies, depends largely on the specialists who diagnose them - including their ability to work alongside specialists from other fields and to take full advantage of cutting-edge precision medicine technologies and precision public health approaches.
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Survival of children and adolescents with intellectual disability following gastrostomy insertionWhilst gastrostomy insertion was associated with lower survival rates than children without gastrostomy, survival improved with time
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Risk of Hospitalizations Following Gastrostomy in Children with Intellectual DisabilityGastrostomy was associated with health benefits including reduced all-cause and epilepsy hospitalizations, but was not protective against acute LRTI
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Prevalence of Motor Difficulties in Autism Spectrum Disorder: Analysis of a Population-Based CohortIn this population-based cohort that included 2,084 children with autism aged ≤6 years, over one-third met the criteria for motor difficulties
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Topical antibiotics for chronic suppurative otitis mediaWe are uncertain about the effectiveness of topical antibiotics in improving resolution of ear discharge in patients with chronic suppurative otitis media
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Feasibility and Effectiveness of an Individualized 12-Week "Uptime" Participation (U-PART) Intervention in Girls and Women With Rett SyndromeThe U-PART intervention was found to be feasible and effective in the short term in girls and women with Rett Syndrome
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A Rationale for Change: An Increase in Invasive Pneumococcal Disease in Fully Vaccinated ChildrenA review of cases informed a change from a "3 + 0" infant schedule to a "2 + 1" schedule
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Are there differences in immune responses following delivery of vaccines through acutely or chronically sun-exposed compared with sun-unexposed skin?The review provides the basis for further research into the effects of acute and chronic UV radiation exposure on skin cells in the context of vaccination
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SCN1A Variants in vaccine-related febrile seizures: A prospective studyPathogenic SCN1A variants may be identified in infants with vaccine-proximate febrile seizures
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A call for global action for rare diseases in AfricaThe outcomes of the deliberations and emphasizes the international collaborative efforts required to address the global effects of rare diseases on public health