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Real-world benefits and tolerability of trofinetide for the treatment of Rett syndrome: The LOTUS study

Aim: To describe the real-world effects of trofinetide in individuals with Rett syndrome (RTT) using the 18-month follow-up analysis of the LOTUS study.

Game-changing program for kids with social and communication differences

A world-first program for babies with differences in their social and communication skills is aiming to help parents and caregivers better understand the different ways their child communicates.

Clocking TikTok expertise across the Institute

Early career researchers across The Kids Research Institute Australia have come together in a serendipitous project that is laying the groundwork for a more informed discussion of the impact of social media on kids and young people.

Masculine Norm Adherence Among Australian Men: Latent Structure of the CMNI-22 and Its Links With Mental Health Outcomes

Masculine norms influence men's health and wellbeing. In Australia, interest in the role of these masculine norms resulted in an assessment of masculine norm adherence being included in the Ten to Men Study, measured using the 22-item version of the Conformity to Masculine Norms Inventory.

Comparing home polysomnography with transcutaneous CO2 monitoring to laboratory polysomnography in children with neuromuscular disorders

Clinical utility of home polysomnography in children with neuromuscular disorders is limited by lack of evidence that sleep-disordered breathing can be reliably identified and inability to diagnose hypoventilation because carbon dioxide is not measured.

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.

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.

National funding success for child health researchers

Researchers from the Telethon Institute have today been awarded $3.46 million in competitive grants and two early career fellowships from the NHMRC.

Genetic analysis reveals range of Rett syndrome

The first comprehensive analysis of the clinical effects of genetic mutations involved in Rett syndrome

A Family's Journey at JHC: Analyses of routinely collected data

Desiree Silva MBBS, FRACP, MPH, PhD Co-Director, ORIGINS desiree.silva@thekids.org.au Co-Head, The ORIGINS Project Professor Desiree Silva is