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Initial Validation and Reliability of the CDKL5 Deficiency Disorder Hand Function Scale (CDD-Hand)

Pathogenic variants in the CDKL5 gene result in CDKL5 deficiency disorder (CDD), which is characterized by early-onset epilepsy, severe developmental delay, and often, cortical visual impairment. Validated clinical outcome measures are needed for future clinical trials to be successful. This study aimed to adapt the Rett Syndrome Hand Function Scale for CDKL5 deficiency disorder and evaluate its feasibility, acceptability, content validity, and reliability.

Association between early respiratory viral infections and structural lung disease in infants with cystic fibrosis

Infants with cystic fibrosis (CF) develop structural lung disease early in life, and viral infections are associated with progressive lung disease. We hypothesized that the presence of respiratory viruses would be associated with structural lung disease on computed tomography (CT) of the chest in infants with CF.

Primary school teacher outcomes from online professional development for physical literacy: A randomised controlled trial

Primary (or elementary) school teachers are often relied upon to provide children with opportunities for physical literacy development; however, many of these teachers feel they lack the skills to effectively promote or ‘teach’ physical literacy.

Racism and Indigenous Adolescent Development: A Scoping Review

Previous studies on the impacts of racism on adolescent development have largely overlooked Indigenous youth. We conducted a scoping review of the empirical literature on racism against Indigenous adolescents to determine the nature and scope of this research and to establish associations with developmental outcomes.

Skin health situational analysis to inform skin disease control programs for the Kimberley

Asha Bowen BA MBBS DCH FRACP PhD GAICD FAHMS OAM Head, Healthy Skin and ARF Prevention Head, Healthy Skin and ARF Prevention Areas of expertise: Skin

Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency

We aimed to investigate the molecular basis underlying a novel phenotype including hypopituitarism associated with primary ovarian insufficiency.

Primum non nocere (“first do no harm”) with oxygen therapy

Britta Regli-von Ungern-Sternberg AM FAHMS MD, PhD, DEAA, FANZA Chair of Paediatric anaesthesia, University of Western Australia; Consultant

Characteristics of patients ≥10 years of age with diffuse intrinsic pontine glioma: a report from the International DIPG/DMG Registry

Diffuse intrinsic pontine gliomas generally occur in young school-age children, although can occur in adolescents and young adults. The purpose of this study was to describe clinical, radiological, pathologic, and molecular characteristics in patients ≥10 years of age with DIPG enrolled in the International DIPG Registry.

They Told Me “This Isn’t a Hotel”: Young People’s Experiences and Perceptions of Care When Presenting to the Emergency Department with Suicide-Related Behaviour

In Australia, the number of young people presenting to the emergency department with mental health concerns, in particular, suicidal behaviour (defined here as suicidal ideation, thoughts, intent and attempts) is increasing.

Someday we’ll look back on this, and it will all seem funny. The lung and ventilation special issue 2030 and beyond

Britta Regli-von Ungern-Sternberg AM FAHMS MD, PhD, DEAA, FANZA Chair of Paediatric anaesthesia, University of Western Australia; Consultant