Searching for drivers of devastating Down Syndrome condition

21 March 2022


Tiny ‘live’ brain models are being used at The University of Queensland to study a condition causing high-functioning young people with Down Syndrome to suddenly regress.

Professor Ernst Wolvetang is using stem cells from the blood of people with Catatonia and Acute Regression to grow and study brain models, called organoids.

His team at UQ’s Australian Institute for Bioengineering and Nanotechnology (AIBN) will study disease progression, screen medicines and ultimately aim to steer personalised treatment.

“The research is important in understanding what causes once high-functioning people to regress, so we can try to lessen the severe physical and psychological impact,” Professor Wolvetang said.

His research is part of the larger Investigation of Catatonia and Acute Regression in Down Syndrome (ICARDS) study that aims to recruit 30 people with Down Syndrome – including 15 people with regression.

Participants will donate blood samples for making organoids and analysing genetics and inflammatory markers, will undergo psychological testing and will provide medical information.

Ursula's family noticed her becoming increasingly withdrawn in 2020.

Among the participants is Canberra woman Ursula, whose family noticed her becoming increasingly withdrawn in 2020 when previously she was a social and productive 22-year-old.

“First, we noticed jerking, erratic pacing, especially at social events and she could no longer concentrate,” her mother Fiona Steele said.

“Then she completely stopped talking and needed assistance with basic daily activities such as getting dressed.

“The change in Ursula occurred so quickly – in just four months.

“It has been awful watching our beautiful, vibrant young woman become a shell of herself and not have any idea why.


“We joined the study to find answers for Ursula and to alert the Down Syndrome community so no other family needs to watch their child go through what Ursula has.”

UQ and Mater Research clinical psychiatrist and ICARDS chief investigator Dr Cathy Franklin said young people can go from talking, working part-time and engaging in their community – to suddenly being non-verbal and very slow.

“They can sometimes take three to four hours just to eat breakfast,” Dr Franklin said.

“This condition is devastating for the person and their family – and we don’t know what causes it.”

Since her first patient in 2009, Dr Franklin has now seen about 15 people with the condition, prompting her to launch the study in collaboration with AIBN and UQ’s Queensland Brain Institute.

Dr Cathy Franklin with Ursula at AIBN

The condition can typically strike when people with Down Syndrome are aged 15 to 25 years – and while some treatments can help patients, the cause is unknown.

The study is funded by a BICARE grant which is made available for clinicians to identify conditions that could be investigated in collaboration with the Queensland Brain Institute.

Families interested in joining the study can contact the Mater Intellectual Disability and Autism Service on 07 3163 2412 or email