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The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy

Germline pathogenic variants in the RAS/mitogen-activated protein kinase (MAPK) signaling pathway are the molecular cause of RASopathies, a group of clinically overlapping genetic syndromes. RASopathies constitute a wide clinical spectrum characterized by distinct facial features, short stature, predisposition to cancer, and variable anomalies in nearly all the major body systems. 

Intellectual disability and autism prevalence in Western Australia: impact of the NDIS

Estimates of the prevalence of intellectual disability or autism spectrum disorder may vary depending on the methodology, geographical location, and sources of ascertainment. The National Disability Insurance Scheme in Australia was introduced progressively from 2016 to provide individualized funding for eligible people with a significant and permanent disability.

Deletions in the CDKL5 5 untranslated region lead to CDKL5 deficiency disorder

Pathogenic 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. 

Behavior Change Techniques Involved in Physical Activity Interventions for Children with Chronic Conditions: A Systematic Review

Behavior change techniques (BCTs) have been extensively used in physical activity interventions for children, however, no systematic reviews have synthesized their effects.

Novel approaches to measuring cognition in individuals with severe to profound functional impairment: A pilot study in SCN2A-related disorder

Valid clinical outcome assessments with the ability to capture meaningful aspects of neurodevelopment for individuals with neurogenetic conditions associated with profound functional impairments are lacking, yet critical for clinical care and clinical trial readiness.

Trends in prenatal diagnosis of congenital anomalies in Western Australia between 1980 and 2020: A population-based study

Advances in screening and diagnostics have changed the way in which we identify and diagnose congenital anomalies.

Kindy Moves: the feasibility of an intensive interdisciplinary programme on goal and motor outcomes for preschool-aged children with neurodisabilities requiring daily equipment and physical assistance

To determine the feasibility of an intensive interdisciplinary programme in improving goal and motor outcomes for preschool-aged children with non-progressive neurodisabilities. The primary hypothesis was that the intervention would be feasible.

The cost of respiratory hospitalizations in children with cerebral palsy

To establish the burden of respiratory illness in cerebral palsy (CP) on the Western Australian health care system by quantifying the costs of respiratory hospitalizations in children with CP, compared with non-respiratory hospitalizations.

Inter-rater reliability and agreement of the General Movement Assessment and Motor Optimality Score-Revised in a large population-based sample

Prechtl's General Movement Assessment (GMA) at fidgety age (3-5 months) is a widely used tool for early detection of cerebral palsy. Further to GMA classification, detailed assessment of movement patterns at fidgety age is conducted with the Motor Optimality Score-Revised. 

Hospitalizations from Birth to 28 Years in a Population Cohort of Individuals Born with Five Rare Craniofacial Anomalies in Western Australia

To describe trends, age-specific patterns, and factors influencing hospitalizations for 5 rare craniofacial anomalies.