The new expertise center called UNIEK welcomes children and adults with rare genetic disorders as well as an autism spectrum disorder. Often the two go hand in hand, because autism is highly hereditary. But exactly how that genetically works remains complex, despite much research. Sometimes a relatively well known mutation contributes to autism, as in Fragile X syndrome, but more often a rare genetic variant is the culprit. At least 150 genes are known to have a link to autism, some of which occur in only one or a few patients in the Netherlands.
To learn from these rare disorders, understand their differences and explore treatment options, the expertise center UNIEK was launched in October 2021. All patients who report to UNIEK are asked to participate in scientific research. ‘Patient care and research go hand in hand at our facility. Our goal is to optimize care and advance science,’ explains initiator and child and adolescent psychiatrist Gwen Dieleman.
UNIEK is embedded within the outpatient clinic Child and Adolescent Psychiatry and Psychology at Erasmus MC Sophia and is part of ENCORE, the Expertise Center Neurodevelopmental Disorders of Erasmus MC. The following departments are involved in UNIEK: Child and Adolescent Psychiatry/Psychology, Clinical Genetics, Neuroscience, Pediatrics and Neurology. UNIEK is recognized as an expertise center by the Dutch Federation of University Medical Centers (NFU) and the Ministry of Health, Welfare and Sport (VWS).
The participants in the UNIEK study are mapped out very comprehensively. In short, the researchers want to know: how are these children doing? That starts, of course, with the genetic background and a visit to a clinical geneticist. ‘Often the genetic profile is already known when people report to us, but if not, extensive genetic testing is done at the Clinical Genetics department,’ says Dieleman.
A tube of blood is also taken. The blood sample is used by researchers from the Neuroscience department to make so-called induced pluripotent stem cells. These stem cells can be transformed into human brain cells in the laboratory. The researchers use brain cells to find out how the rare mutations disrupt the brain and to test potential new drugs for autism.
Participants are also invited for an intelligence test, physical examination and they perform various tasks and computer games. During the tasks, the researchers monitor eye movements and measure brain activity with a technique called functional Near Infrared Spectroscopy (fNIRS). ‘For this, participants are given a kind of bathing cap with lights on it. We use light signals to measure which parts of the brain are active’, explains initiator and neuropsychologist Sabine Herrman-Mous.
The researchers also take a 3D photograph of the face. Previous studies have shown that people with autism share certain, subtle external features. The researchers want to map these features to see which characteristics occur with which mutations. Participants and their parents or teachers will also fill out questionnaires about physical and social functioning.
Parents in the dark
The information from the various studies and tasks leads to an extensive biobank and database with data on the physical, social and psychological functioning of individuals with a rare form of autism. ‘In the long term, this information will allow us to conduct research into the genetic disorders, their influence on the social and physical functioning of these people and the underlying biological mechanisms. We also hope to learn more about the genetic background of autism spectrum disorders in the broad sense’, Dieleman said.
The Sophia Bus
The Sophia Bus is a mobile research laboratory, bringing research to parents and children. The bus has all the facilities needed for research, making a visit to the hospital not necessary. The Sophia Bus is available to all researchers within Erasmus MC Sophia.
Participation can also provide useful information for parents and children, the researchers believe. ‘When a rare mutation is found in a child, parents are often in the dark. What does this mean for the future? Now that we are bringing different genetic variants together in one center for the first time, it may give parents some insight into what to expect’, says Herrman-Mous.
The researchers welcome participants from all parts of the Netherlands to the center at Erasmus MC Sophia. This poses a challenge: the trip to Rotterdam can be tiring for children. A number of hours of research after such a trip, it is not the optimal situation for child, parents and researchers.
The researchers have found a solution to this problem. They are travelling the Netherlands with a special research bus. ‘In this Sophia bus we can do all the research we also do in the expertise center. This way, parents and children for whom it is not possible to come to the hospital can still participate in the research’, explains research assistant Jessica Hommel.
Want to know more about UNIEK or participate in the study? Contact the researchers at UNIEK@erasmusmc.nl or check out the website.