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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.
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.
CDKL5 deficiency disorder (CDD), a severe developmental and epileptic encephalopathy, is being diagnosed earlier with improved access to genetic testing, but this may also have unanticipated impacts on parents’ experience receiving the diagnosis. This study explores the lived experience of parents receiving a diagnosis of CDD for their child using mixed methods.
To describe trends, age, and sex-specific patterns of population hospital admissions with a diagnosis of craniosynostosis (CS) in Australia. Population data for hospital separations (in-patient) from public and private hospitals (July 1996-June 2018) were obtained from the publicly available Australian Institute of Health and Welfare (AIHW) National Hospital Morbidity Database.
Children born to parents with intellectual disability (ID) have been shown as disproportionally represented in child protection services however with limited population-based research.
Two The Kids Research Institute Australia researchers recognised for their role in building a global database for CDKL5 deficiency disorder are now helping to set the scene for clinical trials of much-needed potential treatments.
The Kids Research Institute Australia researchers have called for a greater focus on creating opportunities for children with disability to participate in the community, after finding a clear link between participation and better quality of life.
Researchers at The Kids Research Institute Australia are one step closer to finding better treatments for a rare disease causing children to have multiple seizures a day.
Two The Kids researchers working to improve the health & wellbeing of Aboriginal children & their families have both been honoured at the PHAA Awards.
Professor Carol Bower has received the prestigious ICBDSR Distinguished Service Award for her work on birth defects - a career that spans 35 years.