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Rett syndrome is a genetically caused neurodevelopmental disorder associated with severe impairments and complex comorbidities. This study examined predictors of anxiety and depression in Rett syndrome, including genotype.
In Australia, Aboriginal children experience disproportionate rates of type 2 diabetes (T2D) compared with non-Aboriginal children. The aim of this qualitative study was to explore the experiences of Aboriginal adolescents with T2D and their family members to better understand the influences of T2D on self-management, with findings used to inform an enhanced service model of care.
Maternal diet during pregnancy has long been recognised as an important determinant of neonatal outcomes and child development. Infant body composition is a potentially modifiable risk factor for predicting future health and metabolic disease.
To evaluate the effects of a physical activity programme on sedentary behaviour and physical activity in ambulant individuals with Rett syndrome.
Alcohol related harms disproportionately affect Aboriginal people in Australia. Motives to drink have been identified as the most proximal factor to alcohol consumption.The aim of this study is to assess the validity of a culturally modified Drinking Motives Questionnaire-Revised (DMQ-R) (Cooper, 1994) with Aboriginal participants. The study was cross sectional, utilising data collected via face-to-face surveys with a sample of adult Aboriginal participants.
Accurate knowledge of the relationship between craniofacial anomalies (CFA), intellectual disability (ID) and autism spectrum disorder (ASD) is essential to improve services and outcomes. The aim is to describe the association between CFA, ID and ASD using linked population data.
Fetal Alcohol Spectrum Disorder is a neurodevelopmental disorder caused by exposure to alcohol in utero. It has pervasive, lifelong impacts and is recognised as a major public health concern in many countries where alcohol is used. The FASD Research Australia Centre of Research Excellence was funded by the National Health and Medical Research Council to generate and translate evidence to address prevention, diagnosis, and management of FASD in Australia.
Intellectual and developmental disabilities are heterogeneous in aetiology and presentation, and one cannot make assumptions about the oral health barriers of those with Rett syndrome (RTT) based on findings from generic studies. This study investigated caregivers' perceptions regarding access to dental care for those with RTT, and associations of dental treatments received by those with RTT with their caregivers' perceived value of oral health and perception of their own as well as their daughter's dental anxiety.
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.
Adam Punam Susan Saddler Amratia Rumisha PhD PhD PhD (Biostatistics) Senior Research Officer Honorary Research Associate Honorary Research Associate