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Plasma Cortisol Levels in Infants With Respiratory Distress During Different Phases of Neonatal Transport: A Pilot Prospective Observational Before-After Study

The transport of sick newborn infants with respiratory distress leads to unwanted stress at time of physiological instability. There is dearth of studies to evaluate these stress levels. This pilot prospective observational before-after study aimed to evaluate the plasma cortisol levels (as surrogate marker of stress) in infants with respiratory distress during different phases of neonatal transport.

Diagnostic services for developmental coordination disorder: Gaps and opportunities identified by parents

Affecting one in 20 children, Developmental Coordination Disorder (DCD) is a common neurodevelopmental disorder impacting a child's ability to learn motor skills. Despite its high prevalence, DCD is under-recognized and under-diagnosed, causing unnecessary frustration and stress for families who are seeking help for their child. This study aimed to understand how parents procure diagnostic services and their perspectives on needed supports and services to improve early identification and diagnosis of DCD. 

Ovulation induction and subfertile untreated conception groups offer improved options for interpreting risks associated with ART

To identify and characterise appropriate comparison groups for population studies of health outcomes in ART-conceived births: ovulation induction (OI), subfertile untreated and fertile natural conceptions. Our secondary objective was to examine whether known risks of pregnancy complications and adverse birth outcomes in ART births are elevated in comparison with subfertile (untreated and OI) conception groups.

Stability and change in self-reported risk and resilience factors associated with mental health of siblings of individuals with and without neurodevelopmental conditions over 15 months

Siblings of individuals with neurodevelopmental conditions (NDCs) are a minority population at higher genetic and environmental risk of poorer neurocognitive and psychosocial outcomes compared to siblings of individuals without NDCs.

Longitudinal Rett syndrome behaviour questionnaire scores and their associations with genotype and trajectories of mobility, weight and seizure frequency status

The Rett Syndrome Behaviour Questionnaire (RSBQ) describes behavioural and emotional features. This study investigated total RSBQ score trajectories and their clustering, and for trajectory groups, relationships with genotype and mobility, weight-for-age z scores, and seizure frequency.

Longitudinal trajectory of gross motor skills in school-aged children with Rett syndrome

In children with Rett syndrome, this study aimed to (1) describe gross motor skill trajectories; and (2) analyse the influences of genetic variant and comorbidities. This was a prospective longitudinal study conducted at the Danish National Center for Rett Syndrome 2008 to 2022. The Rett Syndrome Gross Motor Scale (RSGMS) was administered, and clinical data collected at each visit.

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.

"The absolute dearth of resources": Challenges and unmet support needs for emerging adult siblings of individuals with neurodevelopmental conditions in regional and remote Australia

Siblings of individuals with neurodevelopmental conditions have unique experiences and sometimes additional challenges, especially in rural areas where there may be limited access to sibling-specific support services. 

Cardiovascular outcomes for Australian women with rheumatic heart disease during pregnancy: A retrospective linked data analysis, 2002–2017

Rheumatic heart disease (RHD) is the acquired autoimmune heart valve damage resulting from untreated infection with the Streptococcus pyogenes bacterium, which affects people experiencing socioeconomic disadvantage globally. This study measured RHD-associated major adverse cardiovascular events (MACE) and the increased risk associated with pregnancy among women diagnosed with RHD. 

Well-being and support preferences of siblings of individuals with a neurodevelopmental condition in regional and remote Australia: a mixed methods investigation

This convergent parallel mixed methods study examined the role of protective factors (resilience, family functioning, and social support) in explaining sibling well-being, alongside this population's support preferences and experiences.