Web page maintained by
Laura Deboer.
Last updated February 2006.
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+NEWSLINK ARTICLE Jeanette J.A. Holden, PhD February 2001 Since Kanner first described infantile autism in the 1940's, great strides have been made towards understanding the causes and developing treatments for Autism Spectrum Disorders (ASDs). For example, we now know that ASDs are neurodevelopmental disorders, meaning that something goes awry during early fetal brain development. We also know that some treatments (including early intensive behavioural interventions, changes in diet, etc) can vastly improve behaviour problems in some children with ASD - instead of screaming, tantruming, and head-banging in frustration, a child can learn to communicate and enjoy the company of others - sometimes the transitions are nothing short of miraculous. And, we also know that ASDs are largely genetic in origin: by this we mean that susceptibility to ASD is genetic. This comes from a variety of different findings, including the facts that 1) when one identical twin is autistic, the chance that the other identical twin has some form of ASD is very high; 2) families who have one child with autism, have a higher risk of having a second child with ASD than families without any children with autism; and 3) in cases of autistic children who are adopted, there is more often a positive family history of ASD in the biological families than in the adoptive families. It's not surprising that autism spectrum disorders are largely genetic in origin, because so many of our behaviours and characteristics are genetic, and very often families mention that other family members seem to have "some characteristics" of ASD, even though they do not have a diagnosis of ASD. With these findings in mind, a group of more than 50 researchers, clinicians, and parents from across Canada and the US have come together to form a multidisciplinary Autism Spectrum Disorders Research Team (ASD-RT). Using our complementary expertise, our research team hopes to gain a better understanding of the biological basis of ASDs, determine the very earliest of signs of ASD during infancy, identify genes important in determining risk for ASDs, and develop methods for identifying individuals at risk for ASD during infancy so that treatments can be introduced even earlier, optimizing outcomes for children with ASDs. Understanding the specific brain changes that occur in autism, and the strategies that can be used to help individuals with autism to communicate will benefit not only young children with autism, but all individuals with autism, including my brother, Jim, who is 48! Our ASD-RT stretches across Canada and extends into the US, with Regional Teams in Kingston, Vancouver, Calgary, Winnipeg, Toronto/Mississauga, North York, Ottawa, Halifax, Staten Island (New York), Davis (California), and Manhattan (Kansas). We have recently received major funding from the Canadian Institutes of Health Research (CIHR) (Website: www.cihr.ca), through a program called the Interdisciplinary Health Research Team (IHRT) program. In addition, we have received considerable funding and support from Cure Autism Now (CAN) (Website: www.canfoundation.org), a family driven organization that has established a unique Repository of genetic samples from families with two or more cases of ASD: the Autism Genetics Resource Exchange (AGRE). Through our own studies, we hope that Canadian families can be well-represented in this important Repository. By making these samples and diagnostic information available (anonymously) to researchers world-wide, it improves the chances that the genes that are important in determining risk for ASD in your family, are found! Our ASD-RT has other funding from a variety of other sources, supporting work carried out by different team members, including the Ontario Mental Health Foundation which has supported genetic research on autism and developmental disabilities by the author for many years, and the Scottish Rite Charitable Foundation of Canada which has supported this work in the past. Below we briefly describe some of the studies we are carrying out, and outline ways in which you can help us with this important research. 1) Epidemiology of Autism Spectrum Disorders in Canada. In order to plan services and lobby governments for funding, it is imperative that we can accurately estimate the number of individuals with ASD in Canada and understand how these numbers vary over time and across the country. To do this, we are establishing an ASD Research Registry at Queen's University, with the help of the Autism Society of Ontario, other Autism Societies across Canada, and FEAT groups of Canada. We invite all families with an individual with ASD (including autism, Asperger's, PDD-NOS, Rett Syndrome, Childhood disintegrative disorder) under 20 years of age to be a part of this ASD Research Registry. We are asking for basic information, which may help us to identify factors that are shared with many other families with a child with ASD, including obstetrical history, family history, etc. Our findings will be summarized and put on our Web-site (currently in development). A second purpose of the ASD Research Registry is to invite families and individuals to participate in various studies - many of which will be questionnaire-based. Information from a large number of families will help us to understand, for example, whether and how gluten-free diets have been helpful; patterns of sleep disturbance in children with ASD and successful treatments; extent of GI (gastrointestinal) disturbances and the extent to which secretin therapy has been beneficial; etc. Registry members can chose whether or not to participate in these surveys. 2) Genetics of ASD. As mentioned, it is known that ASDs are highly genetic - meaning that much of the susceptibility to ASD lies in our genes. This is important for a few reasons. First, by identifying the genetic factors, we hope to be able to develop a simple blood test that will predict who is likely to develop ASD. This will enable caregivers to introduce treatments at a very early age. Also, by knowing the genes involved, researchers will be able to better understand how these genes work to predispose an individual to ASD: this may lead to the development of dietary or pharmacological or other treatments that could ameliorate symptoms. One of the most productive ways of identifying genes involved in ASD is to study families with two or more cases of ASD. These can be families with two children with ASD, or families in which extended family members are affected (e.g. cousins, nephews/uncles, etc). Since literally hundreds of such families are necessary for researchers to "find" these genes, the Autism Genetics Resource Exchange (AGRE) was established by CAN. AGRE houses blood samples and diagnostic information from families that can be used by many researchers at a small cost per sample. This repository has very few Canadian families, and our ASD-RT is recruiting families for both our own research and to help the research efforts of many research teams, by "joining forces" with CAN/AGRE! By offering families the opportunity to take part in AGRE, families can help researchers worldwide to find the culprit genes. In the past, families who wanted to participate in more than one genetics study (after all, we can't predict who will find the genes that are responsible for ASD in your specific family) would have to have blood drawn several times, and would have to undergo the interviews as many times. By participating in our study, you have the option of our sharing blood and information (anonymously) with CAN/AGRE and thus with researchers worldwide! We see this route as the quickest way to finding the genes responsible for ASD, and the most economical. At this time, we are recruiting families with two or more instances of ASD, but beginning in 2002, we will be recruiting families with a single family member with ASD, so please look for more information about that study at a later date! 3) Clinical and Behavioural Studies in ASD. What we have learned to date about ASD is considerable, but much more information is needed before we really understand ASDs. For example, we know that not all cases of ASD are the same - there is a very wide range of clinical presentation, age-of-onset, areas of strength and weakness, etc. We believe that by careful assessments, both current and retrospective (e.g. through the analysis of videotapes from infancy), we will find clues that will help us understand some of the very earliest signs of developmental anomalies. And perhaps very careful clinical assessments will lead to our separating families into different groups based on subtle clinical/morphological differences. For example, abnormalities of the ears are common in autism, but not all children with autism have abnormal ears. If we study a subgroup of children with these ear anomalies, will we have a clearer picture of this "subgroup" of children with autism than if combine our findings on all children? Intuitively, the answer is "Yes" - and so this is the approach that we are taking. Again, many of these studies will be on families with two or more affected children, but they will be extended to families with a single affected child at a later date. We hope that you are as excited about this study as the members of the ASD-RT. We are thrilled that we have received major funding from the Canadian Institutes of Health Research and Cure Autism Now to undertake this research. The government's commitment is about $4.27 million dollars, over a 5-year period. Together with significant infrastructural and financial support from CAN, we can make a difference. Now we need your help to make our dreams, and yours, come true: to understand Autism Spectrum Disorders and to develop treatments that will lead to optimal qualities of life for our precious children and siblings. Who we are and what our goals are: The ASD-RT includes more than 50 investigators, with complementary expertise, including medical geneticists, molecular and cyto-geneticists, clinical psychologists, neurologists, developmental pediatricians, clinicians, speech and language pathologists, developmental psychologists, experts in imaging techniques, basic scientists, behaviour specialists, and parents of children and adults with autism spectrum disorders. By combining our expertise, we hope to answer questions about the nature of ASDs and their causes, in order to identify individuals at risk at a very early age - between birth and 6 months of age - so that treatments can be introduced early, maximizing the potential of each child with ASD. How you can help: If you have a family member with an autism spectrum disorder, you can help: All Families: If you are willing to be a part of our Autism Spectrum Disorders Research Registry, please contact Dr. Holden or her associates as indicated below. We will send you some forms to complete, which will help us to identify factors that may be common to many cases of ASD and will help us determine the numbers of affected individuals. Families with two or more cases of autism spectrum disorders: If you have two or more cases of ASD in your family - either your immediate family, or your extended family (i.e. your children or other relatives) - we would like to invite you to participate in our genetic studies, aimed at identifying genes important in the development of ASD. We have already identified three genes that appear to be important in the susceptibility to ASD. However, we need to test additional families, to determine whether our findings can be "replicated" - meaning that if we obtain the same results as we did on the initial families, then we are indeed on the right track! We are inviting families to consider participating in our studies and providing information to AGRE at the same time - you will only have to undergo the detailed interviews for diagnosis once, and blood samples will only be taken once. The information will be made available without your names or identifying information to other researchers worldwide, maximizing the possibility that the specific genetic factors responsible for ASD in your family are discovered. Families who have early videotapes of their children: We would like to determine if there are very early, very subtle signs of ASD in infants later diagnosed with ASD. To do this, we will be analyzing videotapes of children from birth to about 3 years of age. If you have such videotapes and might consider sharing the information with us (all videotapes will be returned to you), please contact us at the addresses below. Families with one or more children with autism and an infant (less than 6 months of age): Although the risk for having a child with autism is about 1/500 in the general population, this risk is substantially higher for siblings of autistic children: that is, the risk for a second child having some of the symptoms and characteristics of ASD (i.e. NOT full-blown autism) is about 10-20%. Since we hope to develop tests that will identify these children, we are recruiting families who already have a child with autism and an infant less than 6 months of age (or families with a pregnancy) for some detailed studies. Please contact: If you are interested in obtaining more information about our research, or wish to participate in any of these studies, please call Dr. Jeanette Holden at 613-548-4419, ext 192 and leave a voicemail message or send an email to autism@post.queensu.ca. Our mailing address is: Autism Spectrum Disorders Study, c/o Dr. Jeanette Holden, Ongwanada, 191 Portsmouth Avenue, Kingston, Ontario K7M 8A6. We are very grateful to all families who consider participating in our studies. We know that your time is valuable and that by participating you are helping not only your own families, but future families as well. Thank you |
Web page maintained by
Laura Deboer.
Last updated February 2006.