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Novel approaches to measuring cognition in individuals with severe to profound functional impairment: A pilot study in SCN2A-related disorder

Valid clinical outcome assessments with the ability to capture meaningful aspects of neurodevelopment for individuals with neurogenetic conditions associated with profound functional impairments are lacking, yet critical for clinical care and clinical trial readiness.

Are C-reactive protein and procalcitonin safe and useful for antimicrobial stewardship purposes in patients with COVID-19 - A scoping review

The primary objectives of this study were to assess the usefulness of C-reactive protein and procalcitonin in the diagnosis of bacterial co-infections in coronavirus disease 2019 (COVID-19) and if their incorporation in antimicrobial stewardship programs is safe and useful, stratified by severity of disease as level of care, intensive care unit (ICU) or non-ICU.

Contributions of digital technologies for resilience capacity in a type 1 diabetes transition clinic: A qualitative study

A type 1 diabetes (T1D) transition clinic in Sydney, Australia, provides age specific care for young adults (aged 16-25 years) and for adults (aged 21 years and above), and has reported improved clinical outcomes post transition to adult care over a 21-year period. This study investigated the contribution of digital technology to long-term resilient capacity of the clinic.

Alcohol pharmacotherapy dispensing trends in Australia between 2006 and 2023

This study aimed to investigate acamprosate and naltrexone dispensing patterns in Australia.

Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review

A growing number of genes have been identified in individuals with cerebral palsy; however, many of these studies have poor compliance with the cerebral palsy clinical description. This systematic review aimed to assess the quality of the cerebral palsy clinical description/phenotype in cerebral palsy genetic studies published between 2010 and 2024 and report clinically relevant genes based on the quality of the cerebral palsy phenotype. 

Diet culture on TikTok: a descriptive content analysis

To investigate how dieting is portrayed on TikTok and the potential implications for public health considering the effect of diet culture on eating disorders amongst young people.  

Low-intensity parent- and clinician-delivered support for young autistic children in Aotearoa New Zealand: a randomised controlled trial

Aotearoa New Zealand does not provide publicly-funded intensive autism support. While parent-mediated supports are promising, children and families may also benefit from direct clinician support. We tested the efficacy of a low-intensity programme involving parent- and clinician-delivered support for autistic children.

Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis using induced pluripotent stem cells and neural disease modelling

SETBP1 Haploinsufficiency Disorder (SETBD) is characterised by mild to moderate intellectual disability, speech and language impairment, mild motor developmental delay, behavioural issues, hypotonia, mild facial dysmorphisms, and vision impairment. Despite a clear link between SETBP1 mutations and neurodevelopmental disorders the precise role of SETBP1 in neural development remains elusive.

Fine-grained Fidgety Movement Classification using Active Learning

Typically developing infants, between the corrected age of 9-20 weeks, produce fidgety movements. These movements can be identified with the General Movement Assessment, but their identification requires trained professionals to conduct the assessment from video recordings.

Early Dysglycemia Is Detectable Using Continuous Glucose Monitoring in Very Young Children at Risk of Type 1 Diabetes

Continuous glucose monitoring (CGM) can detect early dysglycemia in older children and adults with presymptomatic type 1 diabetes and predict risk of progression to clinical onset. However, CGM data for very young children at greatest risk of disease progression are lacking.