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FDA Patient-Focused Drug Development Guidances: Considerations for Trial Readiness in Rare Developmental and Epileptic Encephalopathies

Developmental and epileptic encephalopathies (DEE) are rare, often monogenic neurodevelopmental conditions. Most affected individuals have refractory seizures. All have multiple severe impairments which can be as life-limiting as or more limiting than the seizures themselves. Mechanism- and gene-targeted therapies for these individually rare, genetic conditions hold hope for treatment, amelioration of disease expression, and even cure. 

Shoulder dystocia in babies born to Aboriginal mothers with diabetes: a population-based cohort study, 1998–2015

Australian Aboriginal and Torres Strait Islander women with diabetes in pregnancy (DIP) are more likely to have glycaemic levels above the target range, and their babies are thus at higher risk of excessive fetal growth. Shoulder dystocia, defined by failure of spontaneous birth of fetal shoulder after birth of the head requiring obstetric maneuvers, is an obstetric emergency that is strongly associated with DIP and fetal size.

Influenza vaccination in Western Australian children: Exploring the health benefits and cost savings of increased vaccine coverage in children

To assess potential benefits and direct healthcare cost savings with expansion of an existing childhood influenza immunisation program, we developed a dynamic transmission model for the state of Western Australia, evaluating increasing coverage in children < 5 years and routinely immunising school-aged children.

Fetal alcohol spectrum disorder resources for health professionals: a scoping review protocol

People with fetal alcohol spectrum disorder (FASD) encounter a range of health and allied health providers and require specialised support to ensure health services are provided safely and effectively. Not all health professionals possess the knowledge or expertise required for the identification, assessment, referral and management of FASD.

Pain coping tools for children and young adults with a neurodevelopmental disability: A systematic review of measurement properties

To systematically identify and evaluate the measurement properties of patient-reported outcome measures (PROMs) and observer-reported outcome measures (parent proxy report) of pain coping tools that have been used with children and young adults (aged 0–24 years) with a neurodevelopmental disability.

Association between lack of dental service utilisation and caregiver-reported caries in Australian Indigenous children: A national survey

To investigate the association between the lack of dental service utilisation and dental caries in Australian Indigenous children.

Quality of life beyond diagnosis in intellectual disability – Latent profiling

To compare quality of life (QOL) across diagnoses associated with intellectual disability, construct QOL profiles and evaluate membership by diagnostic group, function and comorbidities.

Charting developmental trajectories from 12 to 36 months and associated early risk and protective factors

To investigate developmental trajectories in early childhood and predictors of class assignment.

Modelling quality of life in children with intellectual disability using regression trees

To identify factors associated with quality of life (QoL) in children with intellectual disability. We aimed to identify patterns of association not observable in previous hypothesis-driven regression modelling using the same data set from a cross-sectional observational study.

Psychosocial Interventions and Support Groups for Siblings of Individuals with Neurodevelopmental Conditions: A Mixed Methods Systematic Review of Sibling Self-reported Mental Health and Wellbeing Outcomes

Siblings of persons with neurodevelopmental conditions (NDCs) have increased risk of poorer psychosocial functioning. This systematic review evaluated quantitative and qualitative evidence on sibling mental health and wellbeing outcomes following psychosocial interventions and the risk and protective factors associated with post-intervention outcomes.