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Contact us If you'd like to get in touch, please contact us by phone or email. Phone: 0400 450 240 Email: vtg@thekids.org.au The PRIME Study The
April Welsh lives life in top gear, literally. Diagnosed with T1D just before her 4th birthday, April became the first female to race in the Formula Vee
As well as ORIGINS long-term core research, there are a number of clinical trials, early interventions and shorter-term research studies that sit within ORIGINS. Known as sub-projects, these studies look at multiple aspects of child and family health and development.
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.
There were differences in the presentation of clinical features occurring in the CDKL5 disorder and in Rett syndrome.
Characterized by early-onset seizures, global developmental delay and severe motor deficits, CDKL5 deficiency disorder is caused by pathogenic variants in the cyclin-dependent kinase-like 5 gene. Previous efforts to investigate genotype-phenotype relationships have been limited due to small numbers of recurrent mutations and small cohort sizes. Using data from the International CDKL5 Disorder Database we examined genotype-phenotype relationships for 13 recurrent CDKL5 variants and the previously analyzed historic variant groupings. We have applied the CDKL5 Developmental Score (CDS) and an adapted version of the CDKL5 Clinical Severity Assessment (CCSA), to grade the severity of phenotype and developmental outcomes for 285 individuals with CDKL5 variants.
Keely Amy Tim Bebbington Finlay-Jones Jones MClinPsych/PhD BPsych(Hons), MPsych(Clinical), MHealthEcon, PhD (Clin Psych) MBBS DCH FRACP MD McCusker
The Early Neurodevelopment and Mental Health team is focused on preventing childhood mental illness and optimising children’s development and wellbeing in the first years of their life. We are interested in understanding and identifying the factors that contribute to difficulties in mental health and development, as well as developing cost-effective prevention and early intervention approaches for addressing developmental needs and promoting resilience.
To celebrate International Day of Women and Girls in Science, we asked our research team to share why they became researchers, how autism became their focus and for their top tip for girls interested in pursuing a STEM career.
Qualitative research on sensitive topics (e.g. abuse, mental health difficulties, discrimination) is needed to understand lived experiences of complex issues. However, this type of research raises concerns about potential adverse effects on participants, especially with younger participants and those from marginalized populations. In this study, we conducted a reflexive thematic analysis of 20 trans adolescents’ (14–18 years of age) experiences of participating in research about their stigma experiences.