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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.
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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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Associations between genotype, phenotype and behaviours measured by the Rett syndrome behaviour questionnaire in Rett syndromeRett syndrome (RTT) is a rare neurodevelopmental disorder with developmental impairments, comorbidities, and abnormal behaviours such as hand stereotypies and emotional features. The Rett Syndrome Behaviour Questionnaire (RSBQ) was developed to describe the behavioural and emotional features of RTT.
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Burden of illness in Rett syndrome: initial evaluation of a disorder-specific caregiver surveyRett syndrome (RTT) is a severe X-linked neurodevelopmental disorder associated with multiple neurologic impairments. Previous studies have shown challenges to the quality of life of individuals with RTT and their caregivers. However, instruments applied to quantify disease burden have not adequately captured the impact of these impairments on affected individuals and their families. Consequently, an international collaboration of stakeholders aimed at evaluating Burden of Illness in RTT was organized.
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Psychosocial wellbeing, parental concerns, and familial impact of children with developmental coordination disorderDevelopmental Coordination Disorder (DCD) is a neurodevelopmental condition impacting motor skill acquisition and competence. While previous studies have identified adverse psychosocial outcomes in DCD, they are limited by small or population-screened, community-based samples.
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Childhood Systemic Lupus Erythematosus: Presentation, management and long-term outcomes in an Australian cohortSystemic Lupus Erythematosus (SLE) is a serious autoimmune disease often resulting in major end-organ damage and increased mortality. Currently, no data exists focussing on the presentation, long-term management and progression of SLE in the Australian paediatric population.
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CDKL5 deficiency disorder: clinical features, diagnosis, and managementCDKL5 deficiency disorder (CDD) was first identified as a cause of human disease in 2004. Although initially considered a variant of Rett syndrome, CDD is now recognised as an independent disorder and classified as a developmental epileptic encephalopathy.
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A longitudinal examination of perinatal testosterone, estradiol and vitamin D as predictors of handedness outcomes in childhood and adolescenceThe developmental origins of handedness remain elusive, though very early emergence suggests individual differences manifesting in utero could play an important role. Prenatal testosterone and Vitamin D exposure are considered, yet findings and interpretations remain equivocal.
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Common data elements to standardize genomics studies in cerebral palsyTo define clinical common data elements (CDEs) and a mandatory minimum data set (MDS) for genomic studies of cerebral palsy (CP). Method: Candidate data elements were collated following a review of the literature and existing CDEs.
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"Capturing the magic": identifying the active ingredients of a physical activity participation intervention for children and youth with disabilitiesThis study aimed to define the active ingredients of a participation-focused physical activity intervention for children and youth with disabilities.