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How Families Manage the Complex Medical Needs of Their Children with MECP2 Duplication SyndromeMECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder resulting from the duplication of the methyl-CpG-binding protein 2 (MECP2) gene. The clinical features of MDS include severe intellectual disability, global developmental delay, seizures, recurrent respiratory infections, and gastrointestinal problems. The aim of this qualitative study was to explore how the parents of children with MDS manage their child's seizures, recurrent respiratory infections, and gastrointestinal symptoms, and the impact on them as parents.
Research
Behavior Change Techniques Involved in Physical Activity Interventions for Children with Chronic Conditions: A Systematic ReviewBehavior change techniques (BCTs) have been extensively used in physical activity interventions for children, however, no systematic reviews have synthesized their effects.
Research
Deletions in the CDKL5 5 untranslated region lead to CDKL5 deficiency disorderPathogenic variants in the cyclin-dependent kinase-like 5 (CDKL5) gene are associated with CDKL5 deficiency disorder (CDD), a severe X-linked developmental and epileptic encephalopathy.
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Co-design of the neurodevelopment assessment scaleNeurodevelopmental disorders (NDDs) have high comorbidity rates and shared etiology. Nevertheless, NDD assessment is diagnosis-driven and focuses on symptom profiles of individual disorders, which hinders diagnosis and treatment. There is also no evidence-based, standardized transdiagnostic approach currently available to provide a full clinical picture of individuals with NDDs. The pressing need for transdiagnostic assessment led to the development of the Neurodevelopment Assessment Scale.
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Botulinum toxin and surgical intervention in children and adolescents with cerebral palsy: who, when and why do we treat?This audit aimed to increase understanding of the long-term outcomes of evidence-based medical and surgical interventions to improve gross motor function in children and adolescents with Cerebral Palsy.
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Participation predictors for leisure-time physical activity intervention in children with cerebral palsyTo determine the predictors of magnitude of change in response to a participation-focused leisure-time physical activity intervention in children with cerebral palsy (CP) using the ParticiPAte CP protocol.
News & Events
Pioneering new treatments for leukaemia in children with Down syndromeA team of world-leading scientists has secured $5 million in funding from the Leukaemia and Lymphoma Society to advance the fight against leukaemia in children with Down syndrome.
News & Events
Perth researchers unlocking mystery of rare seizure diseaseResearchers at The Kids Research Institute Australia are one step closer to finding better treatments for a rare disease causing children to have multiple seizures a day.
News & Events
Folate researcher awarded for work to prevent birth defectsProfessor Carol Bower has received the prestigious ICBDSR Distinguished Service Award for her work on birth defects - a career that spans 35 years.
Research
Hospitalizations from Birth to 28 Years in a Population Cohort of Individuals Born with Five Rare Craniofacial Anomalies in Western AustraliaTo describe trends, age-specific patterns, and factors influencing hospitalizations for 5 rare craniofacial anomalies.