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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.
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
Parent-reported outcome measures evaluating communication in individuals with rare neurodevelopmental disorders: A systematic reviewCommunication impairments are a leading concern for parent caregivers of individuals with rare neurodevelopmental disorders. Clinical trials of disease modifying therapies require valid and responsive outcome measures that are relevant to individuals with RNDDs. Identifying and evaluating current psychometric properties for communication measures is a critical step towards the selection and use of appropriate instruments.
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.
Research
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.
Research
Communication of individuals with CDKL5 deficiency disorder as observed by caregivers: A descriptive qualitative studyCDKL5 deficiency disorder (CDD) is a genetically caused developmental epileptic encephalopathy that causes severe communication impairments. Communication of individuals with CDD is not well understood in the literature and currently available measures are not well validated in this population. Accurate and sensitive measurement of the communication of individuals with CDD is important for understanding this condition, clinical practice, and upcoming interventional trials.
Research
Down syndrome and leukemia: from basic mechanisms to clinical advancesChildren with Down syndrome (DS, trisomy 21) are at a significantly higher risk of developing acute leukemia compared to the overall population. Many studies investigating the link between trisomy 21 and leukemia initiation and progression have been conducted over the last two decades.
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
Discovery of 42 genome-wide significant loci associated with dyslexiaReading and writing are crucial life skills but roughly one in ten children are affected by dyslexia, which can persist into adulthood. Family studies of dyslexia suggest heritability up to 70%, yet few convincing genetic markers have been found.