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A brief history of MECP2 duplication syndrome: 20-years of clinical understandingMECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder caused by a duplication of the methyl-CpG-binding protein 2 (MECP2) gene-a gene in which loss-of-function mutations lead to Rett syndrome (RTT). MDS has an estimated live birth prevalence in males of 1/150,000.
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Modifiable child and caregiver factors that influence community participation among children with Down syndromeTo investigate modifiable child and caregiver factors influencing community participation among children with Down syndrome.
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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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Oral health education and promotion in special needs children: Systematic review and meta-analysisTo review the effectiveness of oral health education and oral health promotion interventions for children and adolescents with intellectual and developmental disabilities (IDD), in ensuring optimal gingival health, caries experience and oral health-related quality of life, compared to no interventions or alternative interventions.
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Systematic Review and Meta-analysis: Mental Health in ChildrenThe behavioral phenotype of neurogenetic disorders associated with intellectual disability often includes psychiatric comorbidity. The objectives of this systematic review and meta-analysis were to systematically review the prevalence of psychiatric disorders and symptoms in children and adolescents
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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
Improving the lives of children with a disability and their families sits at the core of our team.
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Investigating the impact of developmental coordination difficulties across home, school, and community settings: Findings from the Australian Impact for DCD surveyTo evaluate the participation difficulties experienced by children with developmental coordination disorder in home, school, and community environments.
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Movement difficulties in children with neurodevelopmental disorders: considering a transdiagnostic approach to classificationChildren with neurodevelopmental disorders often experience difficulties in acquiring and executing movement skills. Although the motor profiles of neurodivergent children frequently overlap, rigid conceptual distinctions between diagnostic labels have been imposed by traditional categorical approaches to taxonomy. An alternative transdiagnostic approach is proposed to better represent the similarities between presentations.