Search

Negative impact of insomnia and daytime sleepiness on quality of life in individuals with the cyclin-dependent kinase-like 5 deficiency disorder

Cyclin-dependent kinase-like 5 (CDKL5) gene pathogenic variants result in CDKL5 deficiency disorder (CDD). Early onset intractable epilepsy and severe developmental delays are prominent symptoms of CDD. Comorbid sleep disturbances are a major concerning symptom for families.

The challenges of developing and optimising an assay to measure 25-hydroxyvitamin D in saliva

We have developed an LC-MS/MS assay that accurately measures saliva 25(OH)D3 levels, which correlated with serum levels

Defining Group A Streptococcus interaction with the tonsil epithelium to inform vaccine development

A vaccine that prevents the initial attachment of Strep A to the tonsils would reduce the incidence of Strep throat and severe diseases that result.

Establishing a national platform for the provision of evidence based practice in Prader-Willi syndrome

Helen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Head, Child Disability +61 419 956 946 08 6319 1763

The natural history of the MECP2 Duplication disorder: Australian surveillance and plans for development of an international register

Helen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Head, Child Disability +61 419 956 946 08 6319 1763

Patterns of language and visuospatial lateralisation in three-year-old children

Little is known about how or when language and visuospatial processing lateralise in the brain, and if individual differences in lateralisation are related to early language or visuospatial abilities. We explored if patterns of language and visuospatial lateralisation are related to cognitive skills in young children.

Content Validation of Clinician-Reported Items for a Severity Measure for CDKL5 Deficiency Disorder

CDKL5 deficiency disorder (CDD) results in early-onset seizures and severe developmental impairments. A CDD clinical severity assessment (CCSA) was previously developed with clinician and parent-report items to capture information on a range of domains.

Can positive mindsets be protective against stress and isolation experienced during the covid-19 pandemic? A mixed methods approach to understanding emotional health and wellbeing needs of perinatal women

The aim of this study was to explore the relationship between emotional health and wellbeing and support needs of perinatal women during the COVID-19 pandemic, and to understand their experiences and need for support. This is a potentially vulnerable group and a critical developmental phase for women and infants.

Content validation of the Quality of Life Inventory—Disability

Satisfactory content validity is reported, where ongoing consumer feedback shaped the dataset from which the final items were selected

A Population-Based Matched-Sibling Analysis Estimating the Associations Between First Interpregnancy Interval and Birth Outcomes

Interpregnancy intervals of <6 months were associated with increased odds of preterm birth in second-born infants