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Advances in screening and diagnostics have changed the way in which we identify and diagnose congenital anomalies.
Siblings of individuals with neurodevelopmental conditions (NDCs) are exposed to unique family environments and experience a range of psychosocial risk and resilience factors.
To describe trends, age-specific patterns, and factors influencing hospitalizations for 5 rare craniofacial anomalies.
Rett syndrome is a genetically caused neurodevelopmental disorder associated with severe impairments and complex comorbidities. This study examined predictors of anxiety and depression in Rett syndrome, including genotype.
This article aims to critically review the literature on continuous electroencephalography (cEEG) monitoring in the intensive care unit (ICU) from an Australian and New Zealand perspective and provide recommendations for clinicians. Design and review methods: A taskforce of adult and paediatric neurologists, selected by the Epilepsy Society of Australia, reviewed the literature on cEEG for seizure detection in critically ill neonates, children, and adults in the ICU.
Validated measures capable of demonstrating meaningful interventional change in the CDKL5 deficiency disorder (CDD) are lacking. The study objective was to modify the Rett Syndrome Gross Motor Scale (RSGMS) and evaluate its psychometric properties for individuals with CDD.
One third of children require repeat ventilation tube insertion (VTI) for otitis media. Disease recurrence is associated with persistent middle ear bacterial biofilms. With demonstration that Dornase alfa (a DNase) disrupts middle ear effusion biofilms ex vivo, we identified potential for this as an anti-biofilm therapy to prevent repeat VTI. First, safety and tolerability needed to be measured.
Affecting one in 20 children, Developmental Coordination Disorder (DCD) is a common neurodevelopmental disorder impacting a child's ability to learn motor skills. Despite its high prevalence, DCD is under-recognized and under-diagnosed, causing unnecessary frustration and stress for families who are seeking help for their child. This study aimed to understand how parents procure diagnostic services and their perspectives on needed supports and services to improve early identification and diagnosis of DCD.
Siblings of individuals with neurodevelopmental conditions (NDCs) are a minority population at higher genetic and environmental risk of poorer neurocognitive and psychosocial outcomes compared to siblings of individuals without NDCs.
Childhood outcomes following preterm birth are widely published, however long-term adult outcomes are less well described. We aimed to determine the quality of life and burden of co-morbidities experienced by preterm-born young adults in Western Australia.