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Evaluation Tools Developed for Rett SyndromeRett syndrome (RTT) is a complex neurodevelopmental X-linked disorder associated with severe functional impairments and multiple comorbidities. There is wide variation in the clinical presentation, and because of its unique characteristics, several evaluation tools of clinical severity, behavior, and functional motor abilities have been proposed specifically for it.
Research
Building the Future Therapies for Down Syndrome: The Third International Conference of the T21 Research SocietyResearch focused on Down syndrome has increased in the last several years to advance understanding of the consequences of trisomy 21 (T21) on molecular and cellular processes and, ultimately, on individuals with Down syndrome. The Trisomy 21 Research Society (T21RS) is the premier scientific organization for researchers and clinicians studying Down syndrome.
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NHMRC funding awarded to support child health researchThe Kids Research Institute Australia researchers have been awarded more than $10 million in research funding from the National Health and Medical Research Council (NHMRC).
Research
Functional outcomes in children and adolescents with neurodisability accessing music therapy: A scoping reviewTo determine the evidence for functional outcomes experienced by a population with paediatric neurodisability (such as acquired brain injury, cerebral palsy, spinal cord injury, and other neurological disorders), who access music therapy through neurorehabilitation services across the rehabilitation spectrum.
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Key elements of Goal-Directed Training for children with cerebral palsy: A qualitative content analysisGoal-directed training is an evidence-based occupational therapy intervention for children with cerebral palsy targeting motor performance and goal attainment. There is variability and limited description on goal-directed training delivery within the studies who found it a successful intervention. The aim of this study was to establish the who, what, why and how of goal directed training according to practicing occupational therapists.
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Childhood leukaemia in Down's syndrome primed by blood-cell biasAn in-depth investigation of gene regulation and cell populations at sites of fetal blood-cell production provides clues as to why children with Down’s syndrome are predisposed to developing leukaemia.
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Efficacy of DYRK1A inhibitors in novel models of Down syndrome acute lymphoblastic leukemiaDespite significant advances, outcomes for children with Down syndrome (DS, trisomy 21) who develop acute lymphoblastic leukemia remain poor. Reports of large DS-ALL cohorts have shown that children with DS have inferior event-free survival and overall survival compared to children without DS.
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qPCR assay optimisation for a clinical study comparing oral health risk in Rett syndromeThis 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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Perspectives on the essential skills of healthcare decision making in children and adolescents with intellectual disabilityInvolvement 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.
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Does somatosensory discrimination therapy alter sensorimotor upper limb function differently compared to motor therapy in children and adolescents with unilateral cerebral palsy: study protocol for a randomized controlled trialBesides motor impairments, up to 90% of the children and adolescents with unilateral cerebral palsy (uCP) present with somatosensory impairments in the upper limb. As somatosensory information is of utmost importance for coordinated movements and motor learning, somatosensory impairments can further compromise the effective use of the impaired upper limb in daily life activities.