A new screening test for three rare genetic disorders in babies is giving hope to parents like Wollert’s Chrissy Cimino.
Researchers from the Murdoch Children’s Research Institute (MCRI) have developed a new screening method to identify Prader Willi, Angelman and Dup15q syndromes in newborns, after receiving a grant from the state government.
The researchers developed a method to screen for the three conditions simultaneously from a sample taken through the commonly used ‘heel prick’ test.
By looking at the number of chemical markers to affected genes, not present at such high or low levels in children without these disorders, researchers were able to identify the syndromes in babies potentially allowing for earlier diagnosis and treatment.
Prader Willi, Angelman and Dup15q can lead to varying degrees of intellectual disability, autism, behavioural problems, seizures and/or severe obesity.
Ms Cimino’s 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 newborn, 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,” Ms Cimino said.
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.
The MCRI study has confirmed that the method could be delivered at large scale for a low cost through standardised newborn ‘heel prick’ tests.
Researchers from the Royal Children’s Hospital, the University of Melbourne and international research institutes also contributed to the study.
Innovation, Medical Research and the Digital Economy Minister Jaala Pulford said the screening test will help children reach their full potential.
Murdoch Children’s Research Institute’s professor David Amor said the screening test would help reduce stress and anxiety felt by parents.
“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.” he said.
