Transcript of ‘Genetics of Autism: What It Means for You’ Webchat with Geri Dawson, PhD and Steve Scherer, PhD
On Thursday, October 27 our first “Office Hours” webchat was held with Autism Speaks Chief Science Officer Geri Dawson, PhD, and her guest host: University of Toronto’s Steve Scherer, PhD, a world pioneer in the discovery and understanding of the genes and genetic changes that predispose to autism. Drs. Dawson and Scherer welcomed questions about the emerging understanding of genetic predisposition to autism, related studies supported by Autism Speaks and how this research can lead to new therapies and insights of direct benefit to families and individuals affected by autism.
Hi, everyone! Thanks so much for joining us for this, our first live “Office Hours” with Autism Speaks Chief Science Officer Geri Dawson, PhD, a licensed clinical psychologist and a professor of psychiatry at the University of North Carolina, Chapel Hill. Dr. Dawson’s guest host today is University of Toronto’s Steve Scherer, PhD, a world pioneer in the discovery and understanding of the genes and genetic changes that predispose to autism. Drs. Dawson and Scherer welcome your questions about the emerging understanding of genetic predisposition to autism, related studies supported by Autism Speaks and how this research can lead to new therapies and insights of direct benefit to families and individuals affected by autism. They’ll be posting answers to as many of your questions as they can and regret that their fingers can’t fly fast enough to answer them all.
Comment From cindy
what actually keeps my autistic son from speaking?
Hello Cindy. This is Dr. Dawson. There are many reasons why kids with autism have trouble developing language. Sometimes it just take time participating in treatment. Some children don’t speak until they are in elementary school. Others learn more quickly. It is important that you have your child evaluated by a speech-language pathologist who can help you understand why young child hasn’t learned to speak yet. There are many good devices, such as iPrompt that can help children who are not speaking communicate their needs and wishes.
Comment From Robin
Hi . My question is about autism and other genetic ic disorders. Is there a connection genetically between autism and say huntington’s disease?
Hello this is Dr. Steve Scherer. Thank you for your question. I have not heard of any definitive link between autism and Huntington disease. It is possible that these two conditions will occur in the same families just by chance. This may also be the case with autism and other disorders.
Comment From Mark S.
I have a friend with a three year-old boy who was recently diagnosed with Autism. Not sure of the specifics (speech, social interactions). Are there any helpful books or resources you would recommend to parents who barely know the first thing about Autism????
Hi Mark, This is Dr. Dawson. There are many resources on the Autism Speaks website, including information about what is autism, treatments available, and local resources. Your friend is fortunate to have someone who cares about helping. I am sure you will be a great source of emotional support for your friend. Here is the link: http://www.autismspeaks.org/family-services
Advance question from Theresa
Hello: My question is will my Nuro typical son carry a gene that can lead to his children having autism?
Hi, Theresa. Dr. Scherer, here. Yes this is possible, but unless there is a significant family history of autism the likelihood of this occurring would be near to population average.
Comment From Gwendolyn
Hi, in working with young autistic children (ages 18 months to 8 years), I have noticed frequently that many of the non-verbal kids have two very interesting things in common. First, while they will not speak, they have no problem singing to themselves and can remember every lyric to their favorite songs. Second, I have been amazed by the ability of the older kids (5-8) to spell and write things with a wonderful grasp of grammar, even though they do not speak. How might these things be explained?
Comment From nettie
is there a test that can be done to fine out if it is genetic or not?
Hello Gwendolyn, This is Dr. Dawson. People with autism can be gifted in many areas, including musical ability, and sometimes it is easier for a child to learn to sing before he learns to speak. In fact, singing is often used during therapy to promote speech and social interaction. Similarly, writing can sometimes be easier than speaking. This is because some kids with autism are able to process information in the visual modality easier than the auditory modality. One way or another, the important thing is to give kids a way of expressing themselves and relating to others.
Dr. Scherer here. There is a new technology called chromosome microarray analysis that allows detection of some genetic changes involved in autism. Recent research has shown that this technology can find genetic alterations in perhaps some 10% or so of individuals with autism. There are also some other single gene tests available. In a moment we will post a link that directs you to an article that can tell you more about the tests (it will be called GeneTests).
A highly referenced resource (GeneTests) for clinical geneticists/genetic counsellors:http://www.ncbi.nlm.nih.gov/books/NBK1442/
Advance question from KARA: How do we prevent this for the next generation? protect our grand children? I have 2 with Autism one High Funtioning and in College one that should be in 6th grade and is nonverbal and not potty trained-they are number2 and 4 of 4 boys, 1 & 3 are Nuero-typical! Please help us know how they can have a family with out anymore Autisms!
Hi Kara. Dr. Scherer, here. Your family would likely benefit from discussing the latest genetic results with a local clinical genetics/counselling group. You could also enroll in research programs. New chromosome analysis methods are allowing detection of copy number variants (CNVs) that will inform on these questions in some 10% of families with autism. Even newer DNA sequencing methods may further resolve things but these are very early days and the data is just now being looked at. … More from Dr. Dawson …
from Dr. Dawson …
Kara, our hope is that every child, whether that child has autism or not, is given the best chance for a meaningful productive and enjoyable life. The good news is that methods are being developed that can identify a child at risk for autism during infancy. Intervention can begin right away and lead to more positive outcomes.
Comment From selma
ıs ıt hard to learn two language for them
Hi Selma, This is Dr. Dawson. There was a recent study published that showed that kids with autism who are exposed to two languages do not show slower development of language, as compared to those exposed to only one language. If a child is living in a bilingual home, they should be exposed to both so they can learn to communicate with their family members who speak different languages.
Comment From marie demachy fauth
I ordered a microarray analysis for my son who has autism, the microarray came back negative. At the same time I ordered genetic testings on several autism suspect genes, Shank3 gene and CNTNAP2 came back positive for genetic mutations. I wonder why the microarray analysis did not picked up these 2 genetic mutations?
Dr. Scherer’s response. Microarrays are a new technology that allows scanning of all of the DNA and genes in the genome. It will detect genetic alterations widely, but only if they are of a certain size (typically >500,000 chemical bases of DNA). DNA sequencing is a separate technology that typically looks at one gene at a time (eg. the SHANK3 or CNTNAP2 gene), but at a much higher resolution (1-1,000 chemical bases of DNA at a time). So in a way the techniques are complementary. Therefore, it would be expected that one technique would detect some changes while the other would find others.
Comment From Barb B.
Can you talk about research being done in the areas of immune disfunction and environmental causes which may lead to Autism. If a person is genetically predisposed can we avoid the things which may lead to Autism developing through early dietary and biomedical intervention? I feel very strongly that this is a path which needs so much more research
Hi Barb, This is Dr. Dawson. There is a great interest in understanding the role of the immune system and environmental factors in autism. Autism Speaks is funding a great deal of research in this area. To find out more, visit the science section of the Autism Speaks website and search under grants (link to come). We believe that autism is caused by a combination of genetic vulnerability and environmental risk factors, which can include prenatal factors (e.g. maternal infection) and postnatal factors (e.g. toxins, such as pesticides). We are very committed to funding research on these topics and hope to have more answers.
Here’s a link to our grant search:http://www.autismspeaks.org/science/grant-search/results
Comment From Christina
I’m pleased to “see” Dr. Scherer here! Wanted to let him know that my two sons, my husband, and I just gave blood samples last week, at Sick Kids, to participate in the Genetics for Autism study, with Dr. Roberts.
Very nice to hear from you. Families like yours and many others participation in research helps everyone. Ultimately, we need to work very closely with families like yours to decode the mystery of autism so hopefully we can provide answers to your questions. Dr. Roberts and my team will work hard studying your DNA! You will also get an invitation each year to our family research day where you will learn about the status of the research. Dr. Scherer.
Advance question from Felicia:
I have four children, two boys and two girls. My 9yr. old has asperger’s, my five year old is fine, my 4 yr. son is autistic functiong at an 18 mo. level and my 2 yr. old son is autistic functioning at 10 mo. level. Is it genetics that gave me so may autistic children and if so why did it skip one? My husband wants to try for a typicaly developing boy after the boys are older. I feel we should not if 75% of our kids are autistic. What are the odds we could have a non autistic child?
Hi Felicia. Dr. Scherer, here. Genes (genetics) seem to often be involved in autism but there effect is almost always not absolute. There are about a half-dozen genes known that if present in one copy instead of the typical two copies may lead to a form of autism. Sometimes it is a more debilitating form of autism and other times it is a more high-functioning form. The new genetic tests may have the most significant impact by facilitating (or highlighting) early detection, perhaps even before onset of symptoms. It is hoped that this early identification may assist in intervention. I think the question above may also be getting at the issue of why more boys have autism than girls. For some genes on the X-chromosome there is a relatively simple explanation, but for other genes the genetics are even more complex.
Comment From Christina
Could you discuss the frequent co-morbidity of autism and ADHD? Are some medications better than others to treat ADHD symptoms in a child with autism? Thanks.
Hi Christina, This is Dr. Dawson. Autism is associated with several medical conditions (“co-morbidities”) and ADHD is one of the most common co-morbidities. The treatment for ADHD for a child with autism can include medications as well as behavioral interventions that can help a child focus their attention. I suggest that you contact a physician with expertise in autism in your local community and ask the physician for help in making a decision about medication. Autism Speaks Autism Treatment Network recently published a tool kit that helps parents make a decision regarding whether they should try a medication to help with behaviors, such as ADHD. We will send a link in a minute to the toolkit.
Here’s the link for this tool kit and others:http://www.autismspeaks.org/science/resources-programs/autism-treatment-network/tools-you-can-use
Comment From Guest
My son has asperger’s, daughter has tourette’s and male family on DH’s side (including DH have motor tics and asperger tendencies). Is it a valid reason then for us to pursue donor sperm for any future children? Will there soon be a way to determine the genetic risks and probabilities? I don’t want to knowingly give any more of our kids neuro disease.
Hi, Dr. Scherer here: Different neuropsychiatric conditions are sometimes observed within families, as seems to be the case in your situation. If you haven’t already done so, you should discuss your situation with a clinical geneticist or genetic counsellor. There are now some genes identified for autism and other neurological conditions, but ultimately family history is very important and you should discuss this with your doctor and the genetic specialists. I would also refer you to the GeneTests document we posted earlier.
Comment From Dawn Ford
I have a question about diagnostic testing and autism. When my son was 2 years old he had a brain MRI and a microarray genetics test, both of which were normal. He is now 5 and since that time I have read several articles about abnormal brain MRIs and genetics tests in children with autism. I’m curious if it is considered normal for a child who clearly has autism (he also has a diagnosis of hyperlexia) to appear completely normal on these types of diagnostic tests.
Hi Dawn, This is Dr. Dawson. It is common to find that a child with autism shows no abnormalities in brain MRI and microarray genetics tests. These tests are not necessarily sensitive enough to detect the subtle genetic and brain changes that may be associated with autism. Your child’s skills in the area of reading may help him excel and communicate. I hope he is able to use these skills at school.
Comment From Guest
We have a 6yo daughter with pdd-nos and a 4yo “neurotypical” son. In contemplating the possibility of a third child, is there currently any testing we can have done to indicate whether we have a heightened chance of having another child affected by autism?
Hi 12:35 Guest. In the last few years there have been many advances in genetic analyses. Earlier, I mentioned the new chromosome microarray analysis (CMA) test. This is becoming a standard of care test in many countries and for a proportion of families with autism it can inform on relative risk. There is much information on the internet. You should do some research and talk to your doctors to see if they think it is appropriate. Much more genetic counseling information (including risk assessment) is given in the GeneTests document we linked to (it will be easier for you to read this than me trying to type out such a long answer!). Dr. Scherer.
Advance question from Lynelle: How will the new DSM V affect those of us whose kids are now diagnosed with Aspergers Syndrome and/or High Functioning Autism? Will our kids still be able to get the same service and therapies they now receive?
Hi Lynelle. Dr. Dawson here. The DSM V likely will combine autism, PDDNOS, and Asperger into one category called Autism Spectrum Disorders. We expect that this will actually help kids qualify for services because sometimes kids are denied unless they are diagnosed with autism. Your kids should be able to qualify for the same services they are receiving now.
Comment From Teresa
Sorry this question is not about genetic links, etc. If you want to disregard, it’s fine. Do you know anything about side effects of Risperdal to control behavior? My daughter has high-functioning autism and has been on R since last February. We are really concerned about this medication but nothing else was suggested except for Topomax which she also takes during the day to calm her down. Thanks!
Hi Thersa, This is Dr. Dawson. Risperdal is one of only a couple of medications that has been FDA approved for the treatment of “irritability” in individuals with autism. Irritability includes aggression, tantrums, and self-injury. Unfortunately, a side effect of Risperdal is weight gain, so a parent has to weigh the pros and cons. We posted earlier a link to a Tool Kit that helps parents make decisions about medications for their child. A recent study showed that medications such as Risperdal are more effective when combined with behavioral intervention. We are currently working toward developing drugs for autism that have fewer side effects.
Comment From Brie
When is genetic testing appropriate for a child suspected of autism or related developmental delays?
Dr. Scherer’s response. A major impact of the genetic testing will be if it can help to identify individuals with autism at the earliest possible time. This will then facilitate attempts for intervention treatments, which have maximal impact when started early. So, if there is a family history of autism the genetic tests (eg. chromosome microarray analysis) might be used early. Right now, most of the microarray analysis is occurring after their is some clinical indication of autism of developmental delay (or later). So it is being used mainly as a confirmatory test. As the information becomes better understood the tests will likely have an increasing impact. The American College of Medical Genetics, the Canadian College of Medical Genetics, and others have recently published medical papers describing when this type of testing is appropriate. You can find these documents in Pubmed. If you need help finding them I think we can direct you to the source.
Here’s the report. Downloadable freehttp://www.springerlink.com/content/b286184612181424/
Comment From Rebecca
Is there a link between vaccinations & autism?
Hi Rebecca, There have been many epidemiological studies that have examined the link between the MMR vaccine and a preservative used in vaccines (thimerosal) and autism, and no link has been found. Thus, we strongly encourage parents to vaccinate their children because we know that this can help ensure that the child doesn’t get serious infectious diseases. We are still exploring whether there may be rare instances in which a child with a specific medical or genetic background may have an adverse response to a vaccination that triggers the onset of autism symptoms.
Comment From Nancy
How can1 of my kids have austism but my other 2 are fine?
Hi 12:43 Nancy. Autism sometimes appears as ‘sporadic’ and in other instances as ‘familial’. We know the most about genes being involved, but environmental triggers could also be culprit. The other thing to consider is that autism favors males over females (~4:1). If I was a betting person I would guess your your child with autism is a boy. We’re just now learning the rules and the one common theme that emerges is complexity. Some of the newer genetic tests might help inform on autism appearing in other family members, but these are still rather rudimentary. We will post a link to a scientific paper Dr. Dawson and I co-authored that explains this more.
Here’s the link again:
Hi Marie, This is Dr. Dawson. You are right that drugs are being developed that help restore the functioning of the synapse (connections bewteen neurons in the brain) in disorders such as Fragile X, in which autism is common. This is a very exciting and promising area of research and Autism Speaks is investing in studies in this area. It is possible that the same drugs that we hope will be helpful in Fragile X and other syndromic forms of autism will also be helpful for people with autism without syndromes. These studies and clinical trials are on-going. Be sure to subscribe to e-Speaks because we will keep you up to date on these studies that seek to develop medicines that can reduce core symptoms of autism.
You can subscribe to eSpeaks here! http://ow.ly/7b1dE
Advance question from Sheetal: Hi. What do you know about the genetics and chances involved regarding a neurotypical sibling of an autistic having a child with autism. Thanks Sheetal
Hi Sheetal. Dr. Scherer, here. Genetic counsellors have statistics they use for just such a question. Given the rapid advances in genetic research in autism there are now some known autism risk genes and in a proportion of families (~10%) there may be genetic information available that will help inform on this question.
Comment From Teresa
Hi :) Thanks for being here for us! My question: with so many children currently being diagnosed with autism – 1 in 110 – is it not equally important to research autism causes not only because of genetics but also caused by environmental issues?
Hi Teresa. I believe it is equally important to perform autism research into genetic and environmental causes of autism. To be honest, however, the genetic research (right now) is easier to do because we have the right technologies and there are endpoints in our experiments. We know precisely how much DNA and genes there are so we think genetic studies will be tractable. The environment on the other hand is much more complex. I think the majority of research will continue on the genetics side for the next five years, but then once we have done this work we will have a more solid basis to frame ‘environmental’ research questions on. This is my personal opinion, Dr. Scherer.
Comment From Donna
Is there any way to control my sons violent outbursts? He is constantly grabbing at peoples throats.
Hi Donna, This is Dr. Dawson. Many children with autism have challenging behaviors, such as violent outbursts. It is important to find out why the outbursts are occurring. Is your son frustrated, confused, bored, or trying to escape an unpleasant situation? A psychologist trained in “functional behavioral assessment” can help you determine the reason for the outbursts and then develop a behavioral problem to reduce these outbursts. These behavioral interventions are very effective. Sometimes medication can also be helpful. Another thing to consider is whether your son many have an underlying medical condition, such as GI distress or even a sleep problem, that is contributing to his outbursts. To find a psychologist in your area, visit our Resource Guide on the Autism Speaks website. We will send the link.
Here is a link to our Resource Guide:http://www.autismspeaks.org/resource-guide
Advance question from Tracy: Are there any studies going on right now? My oldest daughter was going to participate in a study, but did not qualify. However my younger daughter has been diagnosed twice for autism, non-verbal. Considered moderate to severe due to the lack of communication. now I cannot find any studies. I need to get her into a Developmental Pediatrician, but once I get the paper work in, it’s at least another 6-8 month wait to get in.
She does get help at her pre-school, and occasionally qualifies for SSI, but we do not make enough money to afford private at home therapy. Is there any help out there for her? She is an adorable, affectionate little girl. She makes great eye contact ever since her eye surgery for severe eye crossing. Since then it seems an entirely new world has opened up for her.
Communication is still slow going. Potty training is in progress, but slowly.
I guess I am just another parent in need of re-assurance and understanding that has lots of questions, and just wishes to find someone that might have some answers.
Dr. Dawson here. Dear Tracy, One of the best ways to find out about studies is to register on the Interactive Autism Network website (www.ian.org ). On this website, families are connected with researchers. I am sorry it has been so difficult to find services. It sounds like your daughter has many strengths. Have you taken a look at the Resource Guide on Autism Speaks’ website:http://www.autismspeaks.org/resource-guide ? I should list the services that are available in your area. Some services are covered by insurance, others are not. You may also find the IEP toolkit helpful: http://www.autismspeaks.org/family-services/tool-kits . We are working on a toilet training toolkit, so check back on the website later.
Comment From Guest
I have one adult son (22) with early onset autism, an adult daughter who exhibits OCD traits and a son with non-verbal learning problems and some mild sensory issues. Am I reading you correctly – they can seek genetic counseling to help ascertain the risk of the younger two having a child with autism? Would my oldest son need to give a sample to determine the type of autism and if it’s genetic?
Dear 1:15 Guest. Your questions are bang on. I have answered in part some of them but I wanted to use this response to address a few thinks I may have missed. The genetic tests use either blood or saliva (usually blood) as the source of the DNA. While taking blood can cause some discomfort, that is all you have to do. Then the genetic testing occurs. To understand if there are genetic changes presented that may be ‘familial’ in nature you do have to get DNA from the parents and siblings (and sometimes extended family members). Some of the ‘autism’ genes that have been identified in the past few years (such as SHANK3, NRXN1 and other mentioned earlier) are also being observed to be altered in other disorders such as schizophrenia, OCD and ADHD. It is all very complex. I often say that the only simple thing in autism is that it is complex (both with respect to the clinical presentation and the genetics). The genetic counsellors will know more about assigning risk.
Comment From Janet
our daughter was diagnosed with PDDNOS at the age of 5.5. At that time, the psychologist was debating whether the diagnosis was appropriate and suggested that we have her retested in 3 to 4 years and that the diagnosis may change. She is very high functioning, with issues primarily being social. She is also very anxious. Is it at all common for a diagnosis in a young child to change or even disappear as they grow older?
Hi Janet, This is Dr. Dawson. ASD is diagnosed based on a set of behavioral symptoms. Overtime, those symptoms can change, either because of developmental changes or therapy. So, yes, the diagnosis can also change as the behavior changes. The important thing is to consider your child’s individual needs and symptoms. It sounds like the two areas that are challenging are social skills and anxiety. Behavioral interventions, especially Social Skills Training and Cognitive Behavioral Therapy, can be very helpful for higher functioning kids on the spectrum. These therapies can help a child learn to relate socially to other and feel less anxious. Medications can also help reduce anxiety symptoms. To find a clinician in your area, I suggest that you visit the Autism Speaks website and click on our Resource Guide. We sent the link earlier.
Comment From Guest
Will there be a way to tie the genetics of autism development with the risk of autoimmune disease development as being linked or possibly a genetic predisposition but then something triggers them and why someone with family history of autoimmune and or autism/neuro dysfunction seem to have a genetic link? IT seems like anything could be the trigger, stress, environment, viral, but there has to be some genetic underpinning as to why it can happen to those who later become afflicted. If the genetic predisposition is exposed and known, perhaps things could be done to prevent?
Great question. Without going on too long, there are an increasing number of research studies investigating this. It is an entirely plausible way to explain environment and genetic links. Dr. Scherer.
Comment From Brie
Thank you! I would love to have a link to those papers.
Here’s the full studyhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC2869000/?tool=pubmed
Advance question from Patricia: If a child with autism is making really good progress & is on ADHD meds, what additionally can be done to help irrational fears & anxiety that lead to anger? Meds for an 8 yr. old? If genetic predisposition-a child of alcoholic parents can avoid alcohol; what should an autistic person be taught to avoid? Thanks, Patricia
Dr. Dawson, here. Hi, Patricia.
There is a treatment method called Cognitive Behavioral Therapy which has been shown to help children with autism who feel anxious do better. The child is taught strategies for coping with his or her fears before it leads to an emotional outburst. There are also medications that can specifically help with anxiety. Often, a combination of both behavioral therapy and medication is used.
Advance question from Muhammad and Sabrina: Hi, My 6 1/2 years old son is second in 3 brothers , and elder and younger than him are 100 % normal kids but as he was growing elder his habits were not satisfactory all the times complains form teachers we were also known of all his habits then we consult a doctor a he prescribed us Ratline tab and call this as ADHA after a long treatment we haven’t seen any improvements after about 2 years of treatment we consult another doctor he prescribed us respedrol and called it as Autism.
Dr. Dawson, here. Hi Muhammad and Sabrina. Autism is frequently associated with attention difficulties (called ADHD) and medication can sometimes be helpful. I hope that your son is also receiving educational and behavioral therapies to help him succeed at home and school. To find out more about the different therapies that are available, you can visit our website. Seehttp://www.autismspeaks.org/family-services/tool-kits .
From Dr. Scherer: I have to get back to the laboratory now. I wanted to close by saying how important it is for families to get information from relevant and trusted websites (and other sources) such as Autism Speaks. The reason autism research has been so successful in the past decade is because the clinicians, scientists, funders and families are all working together. Many of my best ideas arise directly from listening to the questions the families are asking. This webinar was also a good learning experience for me today. Thank you. Dr. Steve Scherer. And from Dr. Dawson: Thanks, everyone, for such great questions. Forgive us for not being able to all of them. We’ll be posting a transcript of this webchat on the Autism Speaks blog atblog.autismspeaks.org.