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March 21st is World Down Syndrome Day, where we celebrate the lives and achievements of people with Down Syndrome, creating a global voice, advocating for their rights, inclusion and wellbeing but also the need for more research into the condition.
Dr Catherine Franklin is a Psychiatrist, Director of the Mater Intellectual Disability and Autism Service and a Senior Research Fellow at Mater Research Institute. She is currently conducting research to better understand a condition called acute regression in young people with Down Syndrome, supported by the BICARE Grant.
Late last year she was also awarded a Betty McGrath Fellowship to continue this research which includes the Down Syndrome Registry, recruited through the MIDAS clinic. The Down Syndrome Registry is part of a research group led by Harvard Medical School, together with a number of leading USA university clinics.
This has contributed to a recent publication in the medical journal “Genetics in Medicine”, a Springer Nature journal.
She explains that acute regression can mean a person with Down Syndrome can go from being a happy, social and active member of their community to completely withdrawing and losing basic functions in a matter of weeks to the point where they can no longer feed or dress themselves.
“We do not know what causes acute regression and it is very distressing to both the patient and their families,” Dr Franklin said.
“Regression can mean the person loses speech, social skills, interest in food, cognitive function and memory while their motor control, behaviour and mental health are also negatively impacted. Additional symptoms can include aggression, psychosis and catatonia.
“One patient we saw could read, work part time and play the piano however developed progressive motor slowing along with periodic cessation of all motor activity and was eventually diagnosed as catatonic.”
Dr Franklin explains patients with regression have four times as many mental health concerns, six times as many stressors and seven times as many depressive symptoms as other patients. They are more likely to be female with regression occurring anywhere from four to 30 years of age.
“I am hoping this research will give us a better understanding of people with Down Syndrome and their complex health needs and inevitably provide them and their families with answers to why they regress,” Dr Franklin said.
“It would be ideal to see what the signs of regression were so we could implement preventative measures with the patient to stop this from happening.
“Clearly more research into this field is needed to support people living with Down Syndrome and their families.”
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