What is Autism Spectrum Disorder?
Autism spectrum disorder (ASD) is characterized by problems of social communication and interaction, as well as limited and repetitive behavioral patterns, interests or activities. There is also often talk of over or under sensitivity to sensory stimuli.
What Causes Autism Spectrum Disorder?
Studies have shown that ASD is highly genetic and that about 60-90% of the variability in ASD can be explained from genetic causes. ASD is also more common in people with a genetic syndrome, such as Fragile X Syndrome, Tuberous Sclerosis Complex or Angelman Syndrome. However, the genetic background of ASD is complex and, despite previous studies, remains difficult to map. UNIQUE therefore wants to focus on children and adults with a rare genetic disorder and (suspected) ASD. Click here for an extensive list of genes involved in ASD and for which you can contact us. You can also contact us if you/your child has a rare mutation that is not in this list.
How common is autism spectrum disorder?
About 1% of people have an autism spectrum disorder, and about 10% of people with ASD have a rare genetic disorder. In the Netherlands this is about 4,000 children and young people and 13,000 adults.
Examination and diagnosis
Within UNIQUE, care and scientific research go hand in hand. The development of children, young people and adults with a rare genetic disorder and (suspected) ASD will be mapped out extensively within the research center.
The UNIQUE consultation hour
UNIQUE is embedded within the outpatient clinic Child and Adolescent Psychiatry and Psychology at Erasmus MC-Sophia. A visit to our consultation hour will differ from person to person, because every patient is unique! Some of the studies carried out will be done in the context of patient care. Anyone who registers with UNIQUE is also asked to participate in medical scientific research. If you and your son / daughter decide to participate in scientific research at UNIQUE, additional research will be carried out. Click here for more information about medical scientific research.
Within the outpatient clinic of Child and Adolescent Psychiatry and Psychology, it is often possible to also offer treatment, such as parental guidance, drug treatment or specialist treatments (for example cognitive behavioral therapy or Pivotal Response Treatment). If this care cannot be provided within our outpatient clinic, we can refer you to another care provider in your region.
Child and Adolescent Psychiatrist and Coordinator: Dr. Gwen Dieleman
Child and Adolescent Psychiatrist: Dr. Bram Dierckx
Child and Adolescent Psychiatrist: Dr. Pieter de Nijs
Child and Adolescent Psychiatrist: Dr. Rob Rieken
Psychologist and coordinator: Dr. Sabine Mous
Clinical Geneticist: Dr. Anneke Kievit
Klinisch onderzoeker: Kamil Hiralal
Research leader: Prof. Dr. Ype Elgersma
Medical specialist & Professor: Prof. Dr. Steven Kushner
Within the UNIQUE research center, we will not only focus on the autism characteristics, but, in collaboration with the other specialisms within ENCORE and the Erasmus MC-Sophia, we will also make an inventory of other common (such as physical or psychological) problems. For this we work together with clinical geneticists, neurologists, (pediatric) doctors and (pediatric) psychiatrists.
E-mail:
Click here to go to our contact form or email yourself to: uniek@erasmusmc.nl
Phone:
During office hours: Mon-Tue, Thu-Fri: 010-7032110
Mailing address:
Erasmus MC-Sophia Children's Hospital
Attn. UNIEK, KP-2841
Antwoordnummer 55
3000 WB Rotterdam
Visiting address:
Erasmus MC-Sophia Children's Hospital
Department of Child and Youth Psychiatry / Psychology
Dr. Molewaterplein 40, 3015 GD Rotterdam
In order to provide the best possible care to patients with a rare condition, it is essential that global knowledge about the condition is gathered. Nationwide, centers of expertise have been set up to stimulate care for rare disorders and to gather knowledge. For the formal recognition of an expertise center by the Ministry of Health, an important condition is that the expertise center gathers, analyzes and shares knowledge through publications. These can be publications in scientific journals, but also treatment guidelines for health care professionals or information brochures for patients or caregivers. We optimize care and research within ENCORE through standardized follow-up and close collaboration between doctors and researchers. That way, we can ultimately develop better treatments for rare conditions. You may therefore be asked to participate in research. Participation in research is always on a voluntary basis. The data obtained is stored and analyzed in an anonymous form. All research has been approved in advance by an ethics review committee.
To learn more about research into rare genetic forms of autism at ENCORE, clicking here