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        Research

        Expanding the phenotype of the CDKL5 deficiency disorder: Are seizures mandatory?

        These cases, both without seizures but with apparent behavioral symptomatology, together question whether seizures are mandatory in this disorder ...

        Research

        The contributions of fetal growth restriction and gestational age to developmental outcomes at 12 months of age: A cohort study

        Developmental assessment of infants with fetal growth restriction was mostly comparable to those born without fetal growth restriction at 12 months ...

        Research

        Recurrence Risk of Autism in Siblings and Cousins: A Multinational, Population-Based Study

        The present estimates of relative recurrence risks for autism spectrum disorder and childhood autism will assist clinicians and families in understanding autism risk ...

        Research

        The incidence, prevalence and clinical features of MECP2 duplication syndrome in Australian children

        MECP2 duplication syndrome is a rare but important diagnosis in children because of the burden of respiratory illness and recurrence risk ...

        Research

        Incidence and associated risk factors for falls in adults with intellectual disability

        People with intellectual disability fall at a younger age compared with the broader community ...

        Research

        Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review

        Clinical presentations and genetic variations in Cyclin-dependent kinase-like 5 deficiency disorder based on a systematic literature review and experience ...

        Research

        Incidence and prevalence of falls in adults with intellectual disability living in the community: a systematic review

        Synthesized findings demonstrate that people with intellectual disability, who live in community or residential settings, may fall more frequently, and at a younger age ...

        Research

        Perspectives on the essential skills of healthcare decision making in children and adolescents with intellectual disability

        Involvement in healthcare decisions is associated with better health outcomes for patients. For children and adolescents with intellectual disability, parents and healthcare professionals need to balance listening to a child's wishes with the responsibility of keeping them safe.  ...

        Research

        Diagnostic services for developmental coordination disorder: Gaps and opportunities identified by parents

        Affecting one in 20 children, Developmental Coordination Disorder (DCD) is a common neurodevelopmental disorder impacting a child's ability to learn motor skills. Despite its high prevalence, DCD is under-recognized and under-diagnosed, causing unnecessary frustration and stress for families who are seeking help for their child. This study aimed to understand how parents procure diagnostic services and their perspectives on needed supports and services to improve early identification and diagnosis of DCD.  ...

        Research

        qPCR assay optimisation for a clinical study comparing oral health risk in Rett syndrome

        This study aimed to validate qPCR assays for specific microbiota, for use on dental plaque samples stored on Whatman FTA cards to compare relative oral health risk in Rett syndrome. ...

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