When medical psychiatrist and College of Queensland researcher Dr Cathy Franklin noticed her first affected person with Catatonia and Acute Regression in Down Syndrome in 2009, she was shocked.
The situation strikes younger individuals with Down Syndrome, who would possibly beforehand have been energetic and excessive functioning, inflicting them to abruptly regress.
These younger individuals can go from having the ability to discuss, maybe work part-time, dance, sing and engaged of their neighborhood – to abruptly being non-verbal and really sluggish.
They will generally take three to 4 hours simply to eat breakfast.
This situation is devastating for the individual and their household – and we do not know what causes it.”
Dr Cathy Franklin, Researcher, College of Queensland
Since her first affected person in 2009, Dr Franklin has now seen about 15 individuals with the situation, prompting her to launch the Investigation of Catatonia and Acute Regression in Down Syndrome (ICARDS) Examine at Mater Analysis, in collaboration with UQ’s Australian Institute for Bioengineering and Nanotechnology (AIBN) and the Queensland Mind Institute (QBI).
The situation sometimes strikes when individuals with Down Syndrome are aged 15 to 25-years-old, however the trigger is unknown.
In 2020, Ursula’s household seen their beforehand social and productive 22-year-old daughter was changing into more and more withdrawn.
“First, we seen jerking, erratic pacing, particularly at social occasions and he or she may not focus,” her mom Fiona Steele mentioned.
“Then she stopped speaking and wanted help with fundamental each day actions equivalent to getting dressed.
“The change in Ursula occurred so rapidly – in simply 4 months.
“It has been terrible watching our stunning, vibrant younger lady change into a shell of herself and never have any thought why.
“We joined the research to seek out solutions for Ursula and to alert the Down Syndrome neighborhood so no different household wants to observe their little one undergo what Ursula has.”
Dr Franklin mentioned whereas the medical care journey with Down Syndrome can generally be tough, this situation is without doubt one of the worst experiences sufferers and their households face.
“As a psychiatrist, the very last thing I would like is to be lacking a medically treatable situation, and I worry this may very well be the case with Catalonia and Acute Regression in Down Syndrome,” Dr Franklin mentioned.
“We all know that we are able to use psychiatric medicines to deal with the signs however haven’t discovered the trigger which may very well be associated to an autoimmune situation or to the amyloid in Alzheimer’s illness.
“Individuals with Down Syndrome are predisposed to growing each.”
The research, now in its ultimate 12 months, goals to recruit 30 individuals with Down Syndrome – 15 individuals with regression and catatonia and 15 people who find themselves nicely.
Individuals will probably be requested to supply medical info, blood specimens (for genetics, inflammatory markers and for evaluation utilizing induced pluripotent stem cells) and bear psychological testing.
“We now have practically reached our goal for the regression group, however nonetheless in search of extra individuals to affix the research, particularly individuals with Down Syndrome who’re nicely,” Dr Franklin mentioned.
“Whereas uncommon, it is necessary we do what we are able to to seek out the trigger and hopefully higher therapies to assist these worthwhile members of our society and their households keep away from or recuperate from Catatonia and Acute Regression in Down Syndrome.”
The research is funded by a BICARE grant which is made accessible for clinicians to determine situations that may very well be investigated in collaboration with the Queensland Mind Institute.
Households excited by becoming a member of the research can contact the Mater Mental Incapacity and Autism Service on 07 3163 2412 or electronic mail [email protected]