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The study investigated the effect of seizure and medication burden at initial contact with the International CDKL5 Disorder Database on subsequent development and clinical severity and compared quality of life among those whose development progressed, remained stable, or regressed between baseline and follow-up.

Cerebral palsy (CP) is a physical disability that affects movement and posture. Approximately 17 million people worldwide and 34,000 people in Australia are living with CP. In clinical and kinematic research, goniometers and inclinometers are the most commonly used clinical tools to measure joint angles and positions in children with CP.

People with a disability may spend more time sitting and lying (“downtime”) and less time standing and walking (“uptime”). Caregivers and therapists supporting individuals with Rett syndrome were surveyed, aiming to gather insights on how to support participation in “uptime” activities.

We aimed to describe birth prevalence of rare craniofacial anomalies and associations with antenatal and perinatal factors. All live and stillbirths in Western Australia between 1980 and 2010 were identified from the Western Australian Birth Registrations and the Midwives Notification System (also provides information on antenatal and perinatal factors).

For thousands of children around Australia with intellectual and other disabilities, the process of eating can be traumatic, posing challenges that veer from uncomfortable to life threatening.

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.