Rare intellectual disability in children
Providing accurate and timely diagnosis for regional families.
Families who have a child with a rare neurodevelopmental disorder and live in rural areas typically spend extensive amounts of time and energy trying to find out what their child has, before trying a succession of treatments.
This project will improve the timeliness of diagnosis and access to key services for regional patients and their families through a new model of care which supports and upskills general paediatricians in rural and regional Queensland.
The new model of care will involve:
- Providing genomic testing for children with rare neurodevelopmental disorders to improve diagnostic understanding of patients with complex disorders such as Fragile X Syndrome, Angelman’s Syndrome and Rett Syndrome.
- Establishing an ‘expert review group’ to support general paediatricians across Queensland caring for patients with rare neurodevelopmental disorders. This multidisciplinary team will review cases regularly and consist of a paediatrician, genetic counsellor, a clinician sub-specialist and a researcher.
Supporting paediatricians in regional and rural Queensland to deliver this new model of care will improve local clinical capability, knowledge and genetic literacy. It will also work towards providing specialist healthcare as close to home as possible for all Queenslanders.
Project leaders engage with and draw upon the expertise of partners within universities, research institutes and hospital and health services around Queensland.
Dr Helen Heussler, Children’s Health Queensland Hospital and Health Service (lead)
Dr Jacinta Tobin (Mackay Hospital and Health Service)
Dr Andrew White (Townsville Hospital and Health Service)
Dr David Coman (Children’s Health Queensland)
Dr Jim McGill (Children’s Health Queensland)
Dr David Levitt (Children’s Health Queensland)