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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.

Nonvital Pulp Therapy in Primary Teeth Using Mineral Trioxide Aggregate Obturation: A Retrospective Case Series

Nonvital pulp therapy is a treatment option that can preserve pathologically affected primary teeth and contribute to space maintenance. This retrospective case series examined the healing effects in infected primary teeth after pulpectomy using mineral trioxide aggregate obturation and eruption characteristics of the succedaneous teeth. 

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. 

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. 

"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. 

Cohort profile: The WAACHS Linked Data Study

Despite the volume of accumulating knowledge from prospective Aboriginal cohort studies, longitudinal data describing developmental trajectories in health and well-being is limited.

Pandemic preparedness needs for children with rare diseases and their families: A perspective of COVID-19 experiences

People living with rare diseases had a high risk of negative health outcomes due to COVID-19. Pandemic preparedness will ensure best practice procedures and optimal outcomes during future pandemic events. This paper sought to understand the needs of children with rare diseases during the COVID-19 pandemic to inform preparation for future pandemic and disaster events. First, impacts and outcomes from the COVID-19 pandemic on people living with rare disease were identified in the literature.

Siblings of Individuals With Neurodevelopmental Conditions: Perspectives on Risk, Resiliency and Future Research Directions

Siblings of individuals with neurodevelopmental conditions (NDCs) are at increased genetic and environmental risk for poorer psychosocial and neurocognitive outcomes compared to control groups of siblings of individuals without NDCs.