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Our research covers a broad range of areas from the influence of mutation type on health outcomes to factors impacting on the lives of familes.
CDKL5 Deficiency Disorder (CDD) is a rare genetic disorder caused by a mutation in the cyclin-dependent kinase-like 5 (CDKL5) gene. It is now considered to be a developmental and epileptic encephalopathy because of the early onset of seizures in association with severe global delay. Other features include cortical visual impairment, sleep and gastro-intestinal problems. Progress in clinical understanding, especially regarding the spectrum of functional ability, seizure patterns, and other comorbidities was initially slow but accelerated in 2012 with the establishment of the International CDKL5 Database (ICDD). Our aim was to use this data source to investigate quality of life (QOL) and associated factors in this disorder.
Our findings suggest that some opportunities do exist for clinicians to help optimise parental well-being
This review provides the first comprehensive overview of the potential role for cannabis based preparations in the treatment of CDKL5 Deficiency Disorder
This paper aimed to describe the relationships between level of impairment and participation in community activities for girls and women with Rett syndrome.
Helen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Head, Child Disability +61 419 956 946 08 6319 1763
Many children have transitioned to home schooling as a result of the COVID-19 pandemic – bringing about a big change in routine for kids and the entire family.
A new ongoing Q & A series focusing on different research themes within the Children’s Diabetes Centre - focus: exercise team.
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