Researchers from the Murdoch Children’s Research Institute (MCRI) have developed a new screening method to identify three rare genetic disorders in babies, leading to earlier diagnosis and better treatment.
The screening method can identify Prader Willi, Angelman and Dup15q syndromes – which can lead to varying degrees of intellectual disability, autism, behavioural problems, seizures or severe obesity – via a “heel prick” test.
A sample taken from this simple test would show the number of chemical markers in affected genes that are not present at such high or low levels in children without these disorders.
The MCRI study has confirmed that the method could be delivered at large scale and at a low cost through standardised newborn heel prick tests.
“Victorian researchers are world-class and changing lives every day with discoveries like this screening test that will help children reach their full potential,” Victorian minister for Innovation, Medical Research and the Digital Economy Jaala Pulford said.
The Prader Willi, Angelman and Dup15q syndromes affect about 135 babies each year in Australia, but the disorders are not included in newborn screening programs, and many go undiagnosed in a baby’s first year.
“Such early diagnosis, if available through newborn screening, could prevent the diagnostic odyssey, reduce medical costs and the significant stress and anxiety currently experienced by the families while they await a diagnosis,” MCRI professor David Amor said.
A mother residing in Wollert in Victoria, Chrissy Cimino, said her son Elliott was diagnosed with Angelman syndrome when he was 14 months old. As a baby he couldn’t sit upright, never cried or babbled, and struggled to put on weight. If four-year-old Elliott had been diagnosed as a baby, specialists could have intervened earlier to help him develop his cognitive abilities and motor skills.
“We’ve missed out on years of intensive physio and speech and occupational therapies and if Elliot was diagnosed earlier, we could have helped him a lot sooner,” Cimino said.
Researchers from the Royal Children’s Hospital, the University of Melbourne and international research institutes also contributed to the study.
The Victorian government provided a grant of $100,000 to MCRI as part of the 2018 Victorian Medical Research Acceleration Fund, supporting researchers to develop the new screening method. Since 2014, the Victorian government has committed $1.3 billion to medical research.