A new search for causes of autism

May 7 2008

Dr. Eric Fombonne, from the Research Institute of the MUHC at the Montreal Children's Hospital, is involved in a multi-site consortium to gather DNA samples from 2,000 autism patients and their families over the next three years.

The Simons Simplex Collection (SSC) is a coordinated effort to create a database of genetic and behavioral information about cases where there is only one family member with autism. This group, which represents the great majority of autism spectrum disorders, Is expected to lead to the discovery of new genetic factors that increase the risk of autism.

In addition, this database will be accessible online by the scientific community and will represent an invaluable tool for future research projects.

"This database will link state-of-the-art genetic analysis to very detailed behavioral assessments. This is an unprecedented project that could greatly enhance our understanding of underlying biological processes," explains Dr. Fombonne. "This is an important step towards the unraveling of genetic mechanisms and understanding the pathophysiology of this disorder of brain development."

Families are currently being recruited to participate in an initial assessment and then may be invited to participate in other research projects as work continues. Those eligible to participate are families with only one child with an autism spectrum disorder (ASD) who is four years of age or older; with one or more siblings without an ASD, age four or older; and biological parents without an ASD and who are willing to participate. Eligible children with an ASD will receive a behavioral assessment and all family members will donate blood, a source of DNA. A small number of families with no siblings or siblings under the age of four may be eligible to participate in the study.

"The MUHC is committed to recruiting 200 families by the end of 2009. This represents an important challenge, but being the only centre in Canada we hope to be able to attract the required number of English speaking patients," says Dr. Fombonne.

In addition to the Research Institute of the MUHC, the SSC will be conducted at Baylor University, Columbia University, Emory University, Harvard University, the University of California, Los Angeles (UCLA), the University of Illinois-Chicago, the University of Michigan, the University of Missouri, the University of Washington, Vanderbilt University, Washington University, and Yale University.

Dr. Eric Fombonne is the recipient of the Canada Research Chair in Child Psychiatry. He is the Director of the Department of Psychiatry at The Montreal Children's Hospital and Head of the Division of Child Psychiatry at McGill University. He is also co-leader of the "Mental illness and addiction" axis of the Research Institute of the MUHC.

The McGill University Health Centre (MUHC) is a comprehensive academic health institution with an international reputation for excellence in clinical programs, research and teaching. Its partner hospitals are the Montreal Children's Hospital, the Montreal General Hospital, the Royal Victoria Hospital, the Montreal Neurological Hospital, the Montreal Chest Institute and the Lachine Hospital. The goal of the MUHC is to provide patient care based on the most advanced knowledge in the health care field and to contribute to the development of new knowledge.

The Montreal Children's Hospital is the pediatric teaching hospital of the McGill University Health Centre (MUHC). The institution is a leader in the care and treatment of sick infants, children, and adolescents from across Quebec. The Montreal Children's Hospital provides a high level and broad scope of health care services, and provides ultra specialized care in many fields including: cardiology and cardiac surgery; neurology and neurosurgery, traumatology; genetic research; psychiatry and child development and musculoskeletal conditions, including orthopedics and rheumatology. Fully bilingual and multicultural, the institution respectfully serves an increasingly diverse community in more than 50 languages.

The Research Institute of the McGill University Health Centre (RI MUHC) is a world-renowned biomedical and health-care hospital research centre. Located in Montreal, Quebec, the institute is the research arm of the MUHC, the university health center affiliated with the Faculty of Medicine at McGill University. The institute supports over 600 researchers, nearly 1200 graduate and post-doctoral students and operates more than 300 laboratories devoted to a broad spectrum of fundamental and clinical research. The Research Institute operates at the forefront of knowledge, innovation and technology and is inextricably linked to the clinical programs of the MUHC, ensuring that patients benefit directly from the latest research-based knowledge.

The Research Institute of the MUHC is supported in part by the Fonds de la recherche en santé du Québec.