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Research
A national harmonised data collection network for neurodevelopmental disorders: A transdiagnostic assessment protocol for neurodevelopment, mental health, functioning and well-beingChildren with neurodevelopmental disorders share common phenotypes, support needs and comorbidities. Such overlap suggests the value of transdiagnostic assessment pathways that contribute to knowledge about research and clinical needs of these children and their families.
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Measuring skeletal muscle morphology and architecture with imaging modalities in children with cerebral palsy: a scoping reviewTo investigate the use of ultrasound and magnetic resonance imaging (MRI) methodologies to assess muscle morphology and architecture in children with cerebral palsy (CP).
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The Development and Feasibility of a Manualised Therapeutic Playgroup for Children with Developmental DelayPlaygroups are widely used throughout the Australian community yet understanding of their efficacy is hindered by inconsistent playgroup definitions and practice principles. This study aimed to develop, implement and evaluate the feasibility of a manualised therapeutic playgroup for children with developmental delay and their families using a three step process.
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Longitudinal observational research study: establishing the Australasian Congenital Cytomegalovirus Register (ACMVR)Congenital cytomegalovirus (cCMV) is an important cause of long-term childhood disability. In Australia, the identification and treatment practices and the long-term clinical and neurodevelopmental outcomes of children with cCMV are unknown.
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Resting Energy Expenditure and Metabolic Features in Children With Septo-Optic DysplasiaSepto-optic dysplasia (SOD) is a major cause of congenital hypopituitarism and is known to be associated with overweight and obesity in up to 44% of children. Given the role of the hypothalamus in hormonal regulation, we sought to assess the association of resting energy expenditure (REE), appetite and physical activity with SOD.
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The potential of antisense oligonucleotide therapies for inherited childhood lung diseasesAntisense oligonucleotides are an emerging therapeutic option to treat diseases with known genetic origin. In the age of personalised medicines, antisense oligonucleotides can sometimes be designed to target and bypass or overcome a patient's genetic mutation, in particular those lesions that compromise normal pre-mRNA processing. Antisense oligonucleotides can alter gene expression through a variety of mechanisms as determined by the chemistry and antisense oligomer design.
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Caregivers' Perceptions of Clinical Symptoms, Disease Management, and Quality of Life Impact in Cases of Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Cross-Sectional Online SurveyCyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is an ultrarare genetic condition causing developmental epileptic encephalopathy characterized by seizures and motor and intellectual disabilities. No disease-modifying therapies are available, and treatments focus mainly on symptom management to improve quality of life.
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Parents’ Disclosure of Their Child’s Health and Neurodevelopmental Conditions: A Systematic Review and Qualitative MetasynthesisParents of children with physical/mental health and/or neurodevelopmental conditions often need to make disclosure decisions for their child. Disclosure can bring benefits (e.g., support) but can also risk harm (e.g., stigma). This systematic review aimed to consolidate research regarding parents' disclosure experiences to better understand how to support parents during this process.
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Down syndrome-associated leukaemias: current evidence and challengesChildren with Down syndrome (DS) are at increased risk of developing haematological malignancies, in particular acute megakaryoblastic leukaemia and acute lymphoblastic leukaemia. The microenvironment established by abnormal haematopoiesis driven by trisomy 21 is compounded by additional genetic and epigenetic changes that can drive leukaemogenesis in patients with DS.
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Cases of trisomy 21 and trisomy 18 among historic and prehistoric individuals discovered from ancient DNAAneuploidies, and in particular, trisomies represent the most common genetic aberrations observed in human genetics today. To explore the presence of trisomies in historic and prehistoric populations we screen nearly 10,000 ancient human individuals for the presence of three copies of any of the target autosomes. We find clear genetic evidence for six cases of trisomy 21 (Down syndrome) and one case of trisomy 18 (Edwards syndrome), and all cases are present in infant or perinatal burials.