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What does better look like in individuals with severe neurodevelopmental impairments? A qualitative descriptive study on SCN2A-related developmental and epileptic encephalopathy

There are limited psychometric data on outcome measures for children with Developmental Epileptic Encephalopathies (DEEs), beyond measuring seizures, and no data to describe meaningful change. This study aimed to explore parent perceptions of important differences in functional abilities that would guide their participation in clinical trials.

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.

Overweight/obesity and other predictors of gestational diabetes among Aboriginal and non-Aboriginal women in Western Australia

This population-based study investigated the association of BMI and other predictors with gestational diabetes mellitus among Australian Aboriginal and non-Aboriginal mothers. We conducted a state-wide retrospective cohort study that included all singleton births in Western Australia between 2012 and 2015 using population health datasets linked by the Western Australian Data Linkage Branch.

Factors influencing public perceptions of child neglect: A mixed methods study

More than 1 in 5 children experience neglect, exposing them to several adverse consequences. Children with intellectual disability experience additional neglect related challenges. Public perceptions significantly influence the identification, intervention, and prevention of child neglect. 

Growth patterns in individuals with CDKL5 deficiency disorder

Aim: To compare growth in individuals with cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder with population norms and to investigate the effect of gastrostomy on growth. 

Neurocognitive and self-reported psychosocial and behavioral functioning in siblings of individuals with neurodevelopmental conditions: a study using remote self-administered testing

This study compared and explored the neurocognitive profiles of siblings of persons with and without neurodevelopmental conditions (NDCs) and associations between objective test performance and self-reported psychosocial functioning. 

Motor problems in autism: Co-occurrence or feature?

Motor features of autism have long been acknowledged by clinicians, researchers, and community stakeholders. Current DSM-5 and ICD-11 guidelines allow clinicians to assign a co-occurring diagnosis of developmental [motor] coordination disorder for autistic individuals with significant motor problems.

Is sleep captured during a standard daytime EEG sufficient to diagnose Electrical Status Epilepticus in Sleep

Electrical Status epilepticus of sleep (SES) is an EEG pattern where there is significant activation of epileptiform activity in NREM sleep. A spike wave index (SWI) of > 80-85% is often labelled as typical SES. We aimed to explore if sleep during a standard daytime-EEG, as compared an overnight-EEG, was adequate to diagnose ESES.

A Comparison of Inertial Measurement Units and Overnight Videography to Assess Sleep Biomechanics

The assessment of sleep biomechanics (comprising movement and position during sleep) is of interest in a wide variety of clinical and research settings. However, there is no standard method by which sleep biomechanics are measured. This study aimed to (1) compare the intra- and inter-rater reliability of the current clinical standard, manually coded overnight videography, and (2) compare sleep position recorded using overnight videography to sleep position recorded using the XSENS DOT wearable sensor platform.

Rett Syndrome Behaviour Questionnaire in Children and Adults With Rett Syndrome: Psychometric Characterization and Revised Factor Structure

Rett syndrome (RTT) is a severe neurodevelopmental disorder associated with multiple neurobehavioral abnormalities. The Rett Syndrome Behaviour Questionnaire (RSBQ) was developed for pediatric RTT observational studies. Because its application has expanded to adult and interventional studies, we evaluated the RSBQ's psychometric properties in six pediatric (n = 323) and five adult (n = 309) datasets.