Search

Research

Rett syndrome is associated with severe functional impairments and many comorbidities, each in urgent need of treatments. Mutations in the MECP2 gene were identified as causing Rett syndrome in 1999. Over the past 20 years there has been an abundance of preclinical research with some studies leading to human clinical trials.

Research

ATP Binding Cassette Subfamily A Member 3 (ABCA-3) is a lipid transporter protein highly expressed in type-II alveolar (AT-II) cells. Mutations in ABCA3 can result in severe respiratory disease in infants and children. To study ABCA-3 deficiency in vitro, primary AT-II cells would be the cell culture of choice although sample accessibility is limited. Our aim was to investigate the suitability of primary nasal epithelial cells, as a surrogate culture model for AT-II cells, to study ABCA-3 deficiency.

Research

To investigate in a population-based pediatric cohort: prevalence of moderate-severe diabetic ketoacidosis at type 1 diabetes diagnosis over two decades and its association with long-term glycemic control.

Research

Hemiplegic cerebral palsy (hCP) typically impacts sensorimotor control of the hand, but comprehensive assessments of the hands of children with hCP are relatively rare. This scoping review summarizes the development of hand function for children with hCP.

Research

Breastfeeding is important for infants, and fathers are influential in supporting their partner in their decision to breastfeed and how long they breastfeed for. Fathers can feel excluded from traditional antenatal education and support opportunities but highly value social support from peers. Online health forums can be a useful source of social support, yet little is known about how fathers would use a conversation forum embedded in a breastfeeding-focused app. Milk Man is a mobile app that aimed to increase paternal support for breastfeeding using a range of strategies, including a conversation forum.

Research

Impairment in social motivation (SM) has been suggested as a key mechanism underlying social communication deficits observed in autism spectrum disorder (ASD). However, the factors accounting for variability in SM remain poorly described and understood. The current study aimed to characterize the relationship between parental and proband SM. Data from 2,759 children with ASD and their parents from the Simons Simplex Collection (SSC) project was included in this study.

Research

Malaria in Bhutan has fallen significantly over the last decade. As Bhutan attempts to eliminate malaria in 2022, this study aimed to characterize the space-time clustering of malaria from 2010 to 2019. Malaria data were obtained from the Bhutan Vector-Borne Disease Control Program data repository.

Research

To examine if skin autofluorescence differed in early adulthood between individuals with type 1 diabetes and age-matched controls and to ascertain if sAF aligned with risk for kidney disease.

Research

Having a child on the autism spectrum (AS) is known to impact caregiver quality of life (QoL), time use, and stress. A co-occurring diagnosis of intellectual disability (ID) is common among children on the autism spectrum, with ID itself impacting caregiver outcomes. This study sought to understand how co-occurring ID in children on the autism spectrum may influence caregiver-related outcomes. Secondary analysis of survey data from caregivers of 278 children on the autism spectrum with (n = 62) and without (n = 216) co-occurring ID was conducted, exploring impacts on caregiver QoL, stress, coping, and time-use.

Research

Neurological disorders are a leading cause of disease burden worldwide, placing a heavy demand on health systems. This study evaluated the impacts and cost savings of a community-based nursing service providing supported discharge for neurological patients deemed high-risk for unplanned emergency department presentations and/or hospital readmissions. It focused on adult patients with stroke, epilepsy, migraine/headache or functional neurological disorders discharged from a Western Australian tertiary hospital.