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What is epigenetics, and what does it have to do with autism?

January 20, 2012 11 comments

This week’sGot Questions?” answer comes from Alycia Halladay, PhD, Autism Speaks director of research for environmental sciences

If you’ve been following autism research in recent years, you have probably read—many times—that familial, or inherited, risk is seldom the whole picture. A few inherited genes are sufficient by themselves to cause autism. But most so-called “autism genes” only increase the risk that an infant will go on to develop this developmental disorder. As is the case in many complex diseases, it appears that autism often results from a combination of genetic susceptibility and environmental triggers.

This is where epigenetics comes in. Epigenetics is the study of the factors that control gene expression, and this control is mediated by chemicals that surround a gene’s DNA. Environmental epigenetics looks at how outside influences modify these epigenetic chemicals, or “markers,” and so affect genetic activity.

It is important to remember that scientists use the term “environment” to refer to much more than pollutants and other chemical exposures. Researchers use this term to refer to pretty much any influence beyond genetic mutation. Parental age at time of conception, for example, is an environmental influence associated with increased risk of autism, as are birth complications that involve oxygen deprivation to an infant’s brain.

Because epigenetics gives us a way to look at the interaction between genes and environment, it holds great potential for identifying ways to prevent or reduce the risk of autism. It may also help us develop medicines and other interventions that can target disabling symptoms. We have written about epigenetics previously on this blog (here and here). So in this answer, I’d like to focus on the progress reported at a recent meeting hosted by Autism Speaks.

The Environmental Epigenetics of Autism Spectrum Disorders symposium, held in Washington, D.C. on Dec. 8, was the first of its kind. The meeting brought together more than 30 leaders in autism neurobiology, genetics and epidemiology with investigators in the epigenetics of other complex disorders to promote cross-disciplinary collaborations and identify opportunities for future studies.

Rob Waterland, of Baylor College of Medicine in Texas, described epidemiological studies and animal research that suggested how maternal nutrition during pregnancy can affect epigenetic markers in the brain cells of offspring.

Julie Herbstman, of Columbia University, described research that associated epigenetic changes in umbilical cord blood with a mother’s exposure to air pollutants known as polycyclic aromatic hydrocarbons (PAHs). PAHs are already infamous for their association with cancer and heart disease.

Rosanna Weksberg, of the Hospital for Sick Kids in Toronto, discussed findings that suggest how assisted reproductive technology may lead to changes in epigenetically regulated gene expression. This was of particular interest because assisted reproduction has been associated with ASD. Taking this one step further, Michael Skinner, of Washington State University, discussed “transgenerational epigenetic disease” and described research suggesting that exposures during pregnancy produce epigenetic changes that are then inherited through subsequent generations.

Arthur Beaudet, of Baylor College of Medicine, discussed a gene mutation that controls availability of the amino acid carnitine. This genetic mutation has been found to be more prevalent among children with ASD than among non-affected children, suggesting that it might be related to some subtypes of autism. Further study is needed to follow up on the suggestion that dietary supplementation of carnitine might help individuals with ASD who have this mutation. Caution is needed, however. As Laura Schaevitz, of Tufts University in Massachusetts, pointed out, studies with animal models of autism suggest that dietary supplementation may produce only temporary improvements in symptoms of neurodevelopmental disorders.

So what does this all mean for research that aims to help those currently struggling with autism? The meeting participants agreed that the role of epigenetics in ASD holds great promise but remains understudied and insufficiently understood. For clearer answers, they called for more research examining epigenetic changes in brain tissues. This type of research depends on bequeathed postmortem brain tissue, and Autism Speaks Autism Tissue Program is one of the field’s most important repositories. (Find more information on becoming an ATP family here).

The field also needs large epidemiological studies looking at epigenetic markers in blood samples taken over the course of a lifetime. One such study is the Early Autism Risk Longitudinal Investigation (EARLI). More information on participating in EARLI can be found here.

Autism Speaks remains committed to supporting and guiding environmental epigenetics as a highly important area of research.  We look forward to reporting further results in the coming year and years.

Got more questions? Send them to gotquestions@autismspeaks.org.

Read more autism research news and perspective on the science page.


Thank You for Supporting our Pioneering Research

January 10, 2012 8 comments

Guest post by epidemiologist Daniele Fallin, PhD, of Johns Hopkins Bloomberg School of Public Health

My work focuses on autism and understanding how genes and environments interplay to cause this developmental disorder. Much of this work is funded by federal grants, but there can be gaps in what these grants can support, especially in new fields of research. Support from Autism Speaks has been amazing in helping fill these gaps.

In particular, Autism Speaks provided important support for two of my current projects. The funding is allowing us to study families with autism and, so, gain insights into  interactions between autism risk genes and environment exposures.

The Early Autism Risk Longitudinal Investigation (EARLI) is a national study of families that have at least one child on the autism spectrum and anticipate having more children. By following these high-risk families we seek to identify causes and risk factors—be they genetic, environmental or a combination of both. Information is regularly collected from mothers enrolled in the study, and their newborns receive free developmental assessments until 3 years of age.

The second study is a genome-wide investigation of DNA methylation, or epigenetics. It will allow us to investigate how various environmental exposures can affect gene expression in ways that increase—or potentially decrease—the risk of autism. This study will place special focus on environmental exposures during crucial periods of prenatal brain development.

Autism Speaks realizes the importance of these new areas of research and has put forth great effort to ensure we can explore and, hopefully, uncover risk factors for autism that, over the long term, may lead to prevention and improved treatments.

We continue to recruit study participants. Specifically we are enrolling mothers who have one or more children with autism and who may become pregnant or who are currently less than 28 weeks pregnant. They must live near an EARLI research site (California, Maryland or Pennsylvania). For more details, please visit www.EARLIstudy.org or our Facebook page.

On behalf of the EARLI research team, I want to extend a special thanks to Autism Speaks supporters for helping make this pioneering research possible.

Explore more of the studies our supporters are funding with our Grant Search Engine. And read more autism research news and perspective on the science page.

Our Science Data-Meister Reflects on the Big Picture

December 12, 2011 Leave a comment

Posted by Dusan Bosnjakovic, director of research information systems for Autism Speaks Autism Genetic Resource Exchange

On a day to day basis, I can get so immersed in the mechanics, data and details of what I do that I sometimes forget to step back and see the bigger picture: The tremendous value of the research information systems that Autism Speaks has created within its Autism Genetic Resource Exchange (AGRE).

I am feeling particularly sensitive to this “big picture” with this week’s announcement of the historic addition of AGRE information to the National Database for Autism Research (NDAR), which is supported and maintained by the National Institutes of Health.

I’m reminded that the goal of all my work is to increase the availability and usefulness of the vital information that we collect—information that can advance the scientific understanding of autism and speed the development of better treatments.

I promise to spare you the technical details. Suffice it to say, our role is to take the anonymous information (de-identified data) we gather from our participating families and put it in an easy-to-use format that autism researchers can use to increase the power and accuracy of their scientific findings and insights.

In joining our data with NDAR’s, we are making more comprehensive data available to the broader scientific community and also linking data collected on participants within AGRE with additional data on the same participants across a variety of other research studies (all anonymous). This is adding significantly to the autism field’s body of scientific knowledge. And this is our obligation to our families: To maximize their contributions and make sure their de-identified data will always be available to qualified scientists who are working to improve the lives of those who struggle with autism.  We take pride in providing researchers with the most comprehensive and highest quality of data possible, so that they can do what they do best: science.

Special thanks go to Reinis Berzins, our AGRE data projects coordinator, whose position was made possible by the $1 million National Institutes of Health grant we received to integrate the AGRE and NDAR databases. To learn more about AGRE, please visit its website. To learn more about the AGRE-NDAR federation, please see this week’s related news item.

Read more science news and perspective on the Science Page.

Autism Speaks Science Team Returns from China

November 8, 2011 3 comments


Posted by Autism Speaks Chief Science Officer Geri Dawson, Ph.D.

The Autism Speaks science team traveled to Shanghai, China, last week with the goal of enhancing collaboration among Chinese and North American scientists. Despite the challenges of speaking different languages, we learned a lot from each other. Our Chinese colleagues were eager to hear about new research and treatments being developed in North America. The Americans were impressed with the technological prowess of the Chinese.

A prime example of this technological power is the Beijing Genome Institute, the largest genome sequencing institution in the world and a new Autism Speaks partner. In the coming year, the Beijing Genome Institute will be sequencing the DNA of families participating in our Autism Genome Resource Exchange (AGRE) program, allowing us to create the world’s largest whole genome sequence library for autism research. (See our related news item.)

Another example is a recently launched Chinese program that sends text messages to new mothers, alerting them to the early signs of autism. Chinese researchers are studying whether this innovative “eHealth” strategy results in better referral, assessment and intervention rates for children with early symptoms.

Although my conversations and learnings from my Chinese colleagues were enlightening and we planned many future collaborations, the most significant moment for me was talking to 200 Chinese parents of children with autism. I walked into a room filled with mothers and fathers eager to hear new information about autism. Through a translator, I described new research findings and treatments and fielded questions from the audience.

The questions were remarkably similar to those I hear from parents in the United States. One mother told me that her son had frequent tummy aches and constipation; she wondered if this could be related to his autism. Another parent asked what she should do about her daughter’s fear of fireworks, a common part of special events here. Should she keep her at home and miss the family outings?  A father showed me a large bag filled with medicines he had purchased through the mail and asked if I thought they would help his child.

We talked about the association between autism and gastrointestinal problems and how treating these physical problems can relieve discomfort and, so, help children gain more from their educational programs. We talked about auditory sensitivities and discussed a range of strategies for helping children cope with loud noises. And we talked about how to evaluate whether a treatment is truly effective and safe for a child.

As our conversation continued, I was struck by the fact that, although China and the United States are very different cultures, autism is a common bond. Parents across the globe are looking for answers to help their children. My hope is that Autism Speaks Global Autism Public Health Initiative will be able to make a difference for these families. By partnering with scientists and clinicians in China, we can translate and adapt many of the tool kits and other resources we have developed here in North America—while also learning from our colleagues and families in China.

Transcript of ‘Genetics of Autism: What It Means for You’ Webchat with Geri Dawson, PhD and Steve Scherer, PhD

October 27, 2011 4 comments

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.

12:29
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. 
12:32
Comment From cindy

what actually keeps my autistic son from speaking?

12:32
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.
12:34
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?

12:35
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.
12:36
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????

12:36
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
12:37
Advance question from Theresa
Hello: My question is will my Nuro typical son carry a gene that can lead to his children having autism?
12:38
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.
12:40
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?

12:40
Comment From nettie

is there a test that can be done to fine out if it is genetic or not?

12:40
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.
12:41
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).
12:41
A highly referenced resource (GeneTests) for clinical geneticists/genetic counsellors:http://www.ncbi.nlm.nih.gov/books/NBK1442/
12:42
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!
12:43
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 … 
12:43
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. 
12:44
Comment From selma

ıs ıt hard to learn two language for them

12:44
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.
12:45
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?

12:46
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.
12:47
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

12:48
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.
12:49
Here’s a link to our grant search:http://www.autismspeaks.org/science/grant-search/results
12:49
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.

12:50
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.
12:52
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?
12:53
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.
12:54
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.

12:54
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.
12:55
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.

12:56
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.
12:57
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.

12:58
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.
12:59
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?

1:00
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.
1:03
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?
1:04
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.
1:05
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!

1:05
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.
1:06
Comment From Brie

When is genetic testing appropriate for a child suspected of autism or related developmental delays?

1:07
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.
1:09
Here’s the report. Downloadable freehttp://www.springerlink.com/content/b286184612181424/
1:10
Comment From Rebecca

Is there a link between vaccinations & autism?

1:10
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.
1:12
Comment From Nancy

How can1 of my kids have austism but my other 2 are fine?

1:14
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.
1:16
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.
1:17
You can subscribe to eSpeaks here! http://ow.ly/7b1dE
1:18
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
1:19
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.
1:19
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?
1:20
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.
1:21
Comment From Donna

Is there any way to control my sons violent outbursts? He is constantly grabbing at peoples throats.

1:22
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.
1:22
Here is a link to our Resource Guide:http://www.autismspeaks.org/resource-guide
1:24
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.
1:25
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. 
1:26
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?

1:27
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.
1:29
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?

1:29
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.
1:31
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?

1:32
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.
1:34
Comment From Brie

Thank you! I would love to have a link to those papers.

1:37
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
1:38
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. 
1:38
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.
1:39
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 .
1:43
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.

If environmental factors can lead to autism, why does only one of my twin boys have autism?

October 21, 2011 41 comments


This week’s “Got Questions?” response comes from Alycia Halladay, PhD, Autism Speaks’ director of research for environmental science
.

Today’s question came in response to my last blog post. In it, I explained that when scientists talk about the “environmental factors” that increase the risk of a disorder, they’re referring to pretty much any influence beyond genetics.

In the case of autism, the clearest evidence of environmental influence seems to surround very early events such as conception, pregnancy and birth. Those with the strongest link include parental age at time of conception (both mom and dad), maternal nutrition or illness during pregnancy, and certain birth complications.

The commenter’s question is a great one that scientists are actively exploring. The short answer is that inherited genes (DNA) and environmental factors seem to interact to influence whether an infant goes on to develop autism. So if the commenter’s twins are fraternal (meaning they share about half their DNA), the difference in their genetic makeup might explain why only one developed autism.

But what if the boys are identical twins–meaning they share exactly the same DNA? In this case, something beyond genes likely accounts for the different outcomes. Comparing the rates of autism among identical and fraternal twins provides clues.

In July, researchers used our Autism Genetic Resource Exchange (AGRE) to complete the largest autism twin study to date. They found a 70 percent overlap in autism among identical twins and a 35 percent overlap among fraternal twins. That overlap between fraternal twins is much higher than the estimated 19 percent overlap between different-age siblings.

These numbers tell us that it’s not always genes alone that determine whether a child develops autism. If it were, two identical twins would always share the same outcome, and the rate of a shared autism among fraternal twins would look more like that for different-age siblings. So we conclude that shared environmental influences are also at play.

Although twins share very similar pregnancy and birth environments, those environments aren’t exactly the same. For example, twins can have different positions in the womb or different placentas, and this can affect such environmental influences as blood and oxygen flow. Indeed, twins often have different birth weights, a known risk factor for autism.

It’s important to remember that “environmental” influences such as these don’t cause autism by themselves. Rather, if a child has a genetic predisposition for developing autism, these influences may further increase the risk.

Autism Speaks continues to fund and otherwise support research on both genetic and nongenetic risk factors for autism. EARLI is a network of researchers who follow mothers of children with autism beginning at the start of another pregnancy. IBIS is a study of early brain development in the younger siblings of children with autism. These studies depend on the participation and support of the autism community.  Please visit our Participate in Research page to learn more.

Importantly, these studies provide insights into the underlying biology of different types of autism. This in turn becomes a basis for developing ways to treat and possibly prevent autism. As always, the goal of the research we support is to improve the lives of all on the autism spectrum.

And thanks for the question. Please keep them coming.

What do scientists mean when they talk about ‘environmental factors’ that cause autism?

September 30, 2011 34 comments

This week’s “Got Questions?” response comes from Alycia Halladay, PhD, Autism Speaks’ director of research for environmental science.

Research has taught us that there’s no simple explanation for what causes autism. We know that genes play a role, but they aren’t the whole picture. Environment also matters.

However “environment” can be a tricky term, as pediatrician Perri Klass recently noted in her New York Times column. In autism research, we use the word to refer to pretty much any influence beyond inherited genes—not just exposure to pollutants or other toxic chemicals.

In fact, the environmental factors that research most strongly links to autism are influences such as maternal infection during pregnancy (especially rubella), birth complications (especially those involving oxygen deprivation), and parental age at time of conception (dad as well as mom). Parents who wait less than one year between pregnancies may be at a slightly higher risk for having a child with autism. (Conversely, there is strong evidence that mothers who take prenatal vitamins before conceiving reduce the odds that their children will develop autism.)

Clearly, countless fetuses and babies are exposed to “environmental risk factors” such as these without ever developing autism. But if a child is genetically predisposed to autism, it appears that these influences further increase the risk. For this reason, we say that environmental factors increase the risk of autism rather than cause it.

Research has suggested that many other environmental, or nongenetic, factors may increase the risk for autism. But scientists can’t yet say whether these involve direct (versus coincidental) links. Such factors include a pregnant woman’s exposure to certain chemicals such as pesticides and phthalates (commonly found in plastics) or certain drugs such as terbutaline (used to stop premature labor), valproic acid (to control seizures), and some antipsychotics and mood stabilizers. Of course, in the case of medications, any possible increased risk of autism must be balanced against a woman’s medical needs—which can likewise affect the health of her pregnancy and children.

In addition, most environmental factors associated with autism appear to increase risk only slightly and only in combination with other factors such as genetic predisposition.  So it is difficult, in most cases, to pinpoint any one environmental influence. For these reasons, Autism Speaks continues to fund research on a wide range of environmental risk factors. Importantly, the more we learn about how these influences affect brain development, the better we can help the children, adults and families who are affected by autism.

Want to learn more about the research Autism Speaks is funding? On our Science Grant Search page, you can browse studies by topic and location. Finally, if you or your child is affected by autism, please consider participating in one of our clinical studies. Thanks, and please keep sending us your questions.

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