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The BabySibs Consortium: Important Findings Ahead

August 30, 2011 12 comments


Posted by Alycia Halladay, PhD, director of research for environmental science, Autism Speaks

Last week, Autism Speaks High Risk Baby Siblings Research Consortium made the news with the findings that autism recurs in families much more frequently than had been realized.

Autism’s recurrence within families is of tremendous interest to both researchers and families, and our “High Risk Baby Siblings Research Consortium” continues to study this and other important questions regarding the risks, causes, prevention, and early treatment of autism.

So I’d like to take this opportunity to tell you more about this remarkable group of researchers and their ongoing research–made possible in no small part by your volunteer and donor support.

We support this research consortium in collaboration with the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). In 2003, Alice Kau, of NICHD, and our own VP of Scientific Affairs Andy Shih organized the consortium. I joined with a leadership role in 2005. Since then, the group has grown to include 25 leading autism researchers across 21 medical centers in the United States, Canada, Israel, and the United Kingdom.

They all share the goal of studying the earliest symptoms of autism spectrum disorders (ASDs). They are able to do so because of the generous participation of families with infants and at least one older child on the autism spectrum. These families are so important to research because of the relatively high likelihood that autism will recur among younger siblings.

By following the development of these young children, our consortium researchers are able to do much more than give us more accurate information on recurrence rates.  For example, they are making exciting progress in increasing understanding of how and when autism signs and symptoms first appear. This includes insights into the pattern we call “regression,” which involves a loss of skills in an infant or toddler who appeared to be developing normally.  As a group, the consortium has published a number of articles to help guide pediatricians and other primary care doctors in how to approach children and families already affected by autism. Their research into early signs and symptoms, for example, has helped clinicians diagnose and provide treatment as early as 12 months of age.

Several of the Baby Sibling Consortium researchers also participate in another important Autism Speaks group, the Toddler Treatment Network. It has a deeper focus on early signs and symptoms, particularly as they relate to developing earlier interventions that may actually prevent the development of some or all autism symptoms.

Families with recurrent autism are crucially needed to help our researchers identify the genes and other influences that increase the risk that children will develop autism. By allowing our researchers to track progress beginning in pregnancy, for example, families provide insights into such risk factors as parental age at conception, and maternal infection and nutrition during pregnancy.

Our researchers are also tracking brain development and identifying so-called biomarkers (such as distinctive brainwave patterns) for earlier and more accurate diagnosis.  And, yes, this research can also help us look at whether certain patterns of vaccination make any difference in the risk of autism among children genetically predisposed to the disorder.

Taken together, a better understanding of early signs and symptoms has led to earlier, better accurate diagnoses of ASD along with important knowledge of what causes autism.  This research is not possible without the group working together, and without the valuable support of the National Institutes of Health, and most importantly, the families who donate their valuable time to this research.

Interested in learning more—and perhaps participating in the research?   Please check out our list of Baby Sibling Research Consortium researchers and contact one in your area.

Increased Risk of Autism in Siblings News Coverage

August 18, 2011 4 comments

Autism Risk ‘High’ for Kids with Older Sibling on the Spectrum

August 16, 2011 Leave a comment

 Autism Speaks’ Alycia Halladay, Ph.D., provides perspective on NPR’s All Things Considered. To listen to the segment, visit here.

Increased Risk of Autism in Siblings LIVE Chat Transcript

August 16, 2011 9 comments

Autism Speaks’ Alycia Halladay, Ph.D., hosted a LIVE Facebook Chat on the just released study showing a high risk of autism among the younger siblings of children on the spectrum. Dr. Halladay organized and continues to help lead the High-Risk Baby Siblings Research Consortium that conducted the research and which continues to study the factors that predispose some families to autism recurrence. Please see our news item and a special commentary from Autism Speaks’ Chief Science Officer Geri Dawson, Ph.D.

4:11
Hello Everyone! Thanks for joining our chat!
4:12
Hi there. My name is Alycia Halladay, Director of Research for Environmental Sciences here at Autism Speaks. Autism Speaks funded the analysis released today, and we work very closely with the Baby Sibs Research Consortium, who collected the data and works with the families. I am happy to answer questions and excited to hear your thoughts.
4:12
New findings on risk of autism in siblings – What do they mean for parents? http://www.autismspeaks.org/what-autism/learn-signs
4:13
Experiencing technical difficulties.
4:13
please hang on
4:13
We received several questions throughout the day. We will start with this one question
4:13
FROM SHAMIMP: What is the definition of sibling in this research, was it children having the same set of parents, mother and father? What is the percent of ASD occurrence for step brother and step sisters where they have the same father or different mothers or same mother and different fathers?
4:13
In this study, siblings had the same mother and father. We don’t yet have the numbers for children with one parent or the other being different. In science, this is called a parent of origin effect, where the genetics can be tracked to one parent or the other. The BabySibs Research Consortium hopes to study this in the future.
4:15
Comment From Guest

I have a 4 year old on the spectrum I also have a 2 year old and a 2 month old should I have the other 2 checked and if so when

4:16
As soon as you suspect that something is wrong, you should have a pediatrician or other healthcare provider evaluate your child for developmental disorder. Symptoms of autism emerge as early as 6 months of age. Here are some helpful links.
4:17
Here is a link to an early screener that you can fill out and bring to your doctor.
4:20
FROM ANGEL: I was wondering if there have been studies on boy-girl preemie twins.
4:20
Yes, the rate of autism is higher in infants who are born prematurely, and the BabySibs Research Consortium is looking at prematurity as a risk factor for autism. Studies consistently show that boys have a higher risk of autism, up to four times higher than that of girls.
4:22
Comment From MaryAnn

Do we know of ways to decrease the risk in pregnancy for future siblings at all?

4:23
In addition to family history, there could be many nongenetic influences to the development of autism. We are currently investigating these. A study came out that showed that prenatal vitamin use protected against autism.
4:27
Comment From Guest

The new findings in the siblings study indicate that genetics play a more influenctial role in family autism. would this suggest that environmental factors are less of an influence in autism? We have a 5 yo with ASD and a 4 month old. If we are carrying the genetic markers for autism could we influence whether our youngest manifests autism by avoiding potential environmental factors?

4:28
This study did not look at nongenetic factors. But in fact many siblings do share nongenetic influences. If you already have a child with autism, you should tell obstetrician and follow their guidelines and advice about a healthy safe pregnancy.
4:30
Comment From Lyda

I have a spectrum son and a recently diagnosed daughter. Was research done on the level of autism in the sibling and what does this mean for my newborn son (3rd) child?

4:30
In this study, the level of functioning was monitored in the older sibling diagnosed with autism and it did not influence the outcome of the younger sibling. In other words, the level of function in the older child did not account for the risk of autism in the younger child.
4:33
Comment From Cynthia

Where environmental factors presented at all in this study? For instance one child was born in one state and the second child in another area?

4:34
These factors were not examined in this report. However, the BabySibs research consortium is studying prenatal and infant influences in addition to family history. Here’s a link to that study:www.earlistudy.org.
4:36
Comment From Christin

Is there anything we can do from a preventative stand point?

4:36
Autism Speaks is supporting research looking at very early intervention. It may be possible to stop the progression of autism or prevent some symptoms from developing. So knowing the early signs is important. Early diagnosis leads to early intervention. Here again is the link to early signs and an early diagnosis checklist.
4:40
Comment From Guest

i have a 4 year old boy. I am no longer with his father. the man that i am with now and i have talked about having a child of our own…a big part of me really wants to have a child with him, a bigger part is not wanting to for fear of having another autistic child….is there any way to know what the chances are of me having another autistic child. if only there was prenatal testing available for autism, that way parents can brace themselves

4:41
While it’s important to know that family history is a strong influence in the development of autism, there are other nongenetic factors. Prenatal testing is not going to provide an accurate diagnosis. We don’t know how genes interact with other influences. But knowing that your next child may be at higher risk enables you to look for signs early and seek intervention that can improve function or possibly prevent some symptoms.
4:43
Comment From Bonnie

Hello I am a mom to 2 boys with PDD-NOS. These new findings are right on. My question is how will this change anything regarding early intervention or early screening?

4:43
Bonnie, we urge parents who have a child with autism to make sure they’re vigilant in monitoring the development of their subsequent children and to advise their physicians to do so as well–and to listen to their parental concerns. We hope that by doing so, all children who show early warning signs of autism will be monitored just as closely.
4:44
Comment From dsaie

Have there been any studies pertaining to the likelyhood of a sibling of an autistic person having a child with autism?

4:44
We know that family history is a risk factor for autism. But we don’t know the rate in offspring of people with autism or the offspring of relatives of people with autism. So we don’t know these numbers, but it’s reasonable that they would be higher than the 1 in 110 risk for the general population.
4:47
Comment From Anna

My 5 year old son has autism. What are the chances of my 11 month old girl having it and what should i watch for?

4:48
According to this study, if an older child has autism the chances of a younger sister being diagnosed are 1 in 9. So you should learn the early warning signs of autism by clicking the link below and also check out the video glossary that has clips of young children both affected and not affected with autism. Here again are the links:
4:50
Comment From Mitch

Is there any way of telling which parent carries the gene. I am dating a women with a 16 year old autistic boy and we were wondering should we want to have a child ourselves.

4:51
In this study, siblings had the same mother and father. We don’t yet have the numbers for children with one parent or the other being different. In science, this is called a parent of origin effect, where the genetics can be tracked to one parent or the other. The BabySibs Research Consortium hopes to study this in the future.
4:52
Comment From Guest

Did the study show a difference if the older sibling with a ASD had regression autism, where they developed typically then regressed, versus autism where the child never developed typically? Would the percentages differ if regression was involved?

4:52
The study didn’t address regression specifically. The researchers did look at overall level of function in the older child and found that it did not change the risk of autism for the younger sibling.
4:56
Comment From JoHanna

Is there any reason for the boys over girls with autism that you are aware of?

4:56
Johanna, this is a great question. There are many theories on why more boys are diagnosed with autism than are girls. One has to do with the location of risk genes on the sex chromosome. Some genes are located on the X chromosome and the extra X chromosome in girls may be protective. There are other theories that girls have different thinking and feeling styles than boys and are less likely to show symptoms.
4:58
Comment From Guest

Is the rate for susbsquent children having autism based on your other child that is diagnosed with autism or spectrum disorders??

4:58
Another great question. Thanks. This publication looked at the rate of autism spectrum disorders in younger brothers and sisters of children on the spectrum. The spectrum includes Aspergers.
4:59
FROM KATIE: What we need a study of vaccinated and unvaccinated siblings.
4:59
These investigators are looking at a number of things that happen during pregnancy and infancy that may influence the development of autism. To learn more about this study, follow this link to the EARLY STUDY.
5:00
Comment From Cathy

Just wanted to share that my 3-year old son participated in a Baby Sibs Study (at Yale) and it was a very good experience. I encourage other autism parents to enroll in these types of studies. They are extremely important to us all.

5:01
Cathy, thank you for your participation and your vote of enthusiasm about participating in a BabySibs study. If you all want to learn more–and possibly participate–in a BabySib reseach study, here is a list of sites and contacts …
5:02
We have time for a couple more questions. Forgive us that we were not able to get to all of your great questions and feedback.
5:02
Here is a link to the EARLI Study mentioned earlier.http://www.earlistudy.org/
5:05
Comment From Guest

In the study was there any correlation between the rate of ASD with length between births, birth weight, or length of gestation?

5:05
This study did not look at those factors. However, these have been identified as risk factors in other studies. The BabySibs research group is planning additional studies to explore the connections further.
5:08
Comment From Guest

If there is a family history of ASD behaviors, not necessarily diagnosed, how can we determine the risks or likelihood that future children will develop ASD? Are there preventative steps these families can take? Genetic Testing? Environmental changes?

5:08
I want to emphasize that this study did not exclude the role of nongenetic factors. However, we know that family history plays a very strong role in the development of autism. As previously mentioned, it is likely that genetics and outside influences work together, rather than separately. Further studies are in the works.
5:09
Thank you everyone for participating. Thanks so much for staying on for the full hour. Please continue to post your comments to our science blog at www.blog.autismspeaks.org. We look forward to the next chat!

New findings on risk of autism in siblings – What do they mean for parents?

August 15, 2011 56 comments

A message from Autism Speaks Chief Science Officer Geri Dawson, PhD

Parents of a child with autism are understandably concerned about the likelihood that their subsequent children will be affected. Autism Speaks and its legacy organization, the National Alliance for Autism Research, have been funding research on younger siblings for nearly 15 years– to help us better understand their development.

In 2003, we began organizing and co-funding a very special collaboration—the High Risk Baby Siblings Research Consortium—in partnership with Eunice Kennedy Shriver National Institute for Child Health Development.

This week, we announced the results of the consortium’s largest ever siblings study. The researchers followed younger brothers and sisters from infancy through the preschool period, when autism diagnosis becomes possible.  The study revealed a markedly higher risk among younger siblings than had been previously reported.

As the autism community absorbs the news, let me give you some background on the quality and importance of this research—and what it means for parents.

Our “Baby Sibs” researchers are an international network of clinical researchers who have been pooling information from studies of affected families in 21 sites in the US, Canada, Israel and the UK. Alycia Halladay, Autism Speaks director of research for environmental sciences, and Andy Shih, vice president of scientific affairs, have led the consortium from the start and continue to coordinate its activities.

In the study making headlines this week, the consortium researchers assessed 664 infants. Each had at least one older sibling diagnosed with an autism spectrum disorder (ASD). They found that 1 in 5 babies with an older sibling on the spectrum will likewise be affected—more than double previous estimates. The rate was higher among younger brothers—1 in 4, versus 1 in 9 for younger sisters. And autism affected nearly 1 in 3 infants with more than one older sibling on the spectrum. (Previous estimates came out of much smaller and sometimes less reliably conducted studies.)

So what does this mean for parents?

If you have an older child on the spectrum and you are concerned about your infant, talk to your pediatrician about your baby’s risk and your desire for close monitoring. And if you have any concerns about your child’s development, don’t wait. Speak with your doctor about screening.

Here are links to a number of helpful resources:

* Recent research funded by Autism Speaks shows that a one-page baby-toddler checklist can be used effectively as early as 12 months as an initial screen for autism and other developmental disorders. The screener is available here.

* The American Academy of Pediatrics has long recommended that all children be screened for autism at their 18 month well baby checkups, using the M-CHAT toddler screener, available here.

* As a parent or caregiver, one of the most important things you can do is learn the early signs of autism and understand the developmental milestones your child should be reaching.  You can see the Learn the Signs guidelines on our website, here.

* Finally, families with one or more children on the spectrum can contact their nearest “Baby Sibs” consortium researcher if they would like to participate in this important research. The list is on our website, here.

By monitoring your infant closely and promptly beginning intervention if signs of autism appear, you can ensure that your child will have the best possible outcome.

Autism risk ‘high’ for kids with older sibling with the disorder. Autism Speaks’ Alycia Halladay, Ph.D., provides perspective of NPR’s All Things Considered. To listen to the segment, visit here.

‘Meta-analysis’ Clarifies Birth Conditions Associated with Autism

July 11, 2011 50 comments

Posted by Alycia Halladay, PhD, director of research for environmental science, Autism Speaks

For over four decades, autism researchers have been combing through birth records to look for events that might increase the risk that a newborn goes on to develop an autism spectrum disorder (ASD). Many clues have emerged regarding the influence of such factors as prematurity, low birth weight, method of delivery, or even the season in which conception or delivery occurs. But no one study was large enough to provide definitive answers, and inconsistent results between studies have caused confusion among scientists as well as parents trying to follow the science.

Today, the respected journal Pediatrics publishes a study that goes far in cutting through the confusion. Researchers from Harvard and Brown universities reviewed and analyzed the combined results of 40 studies that looked at potential autism risk factors during the birth (perinatal) and newborn (neonatal) period.

Such a “meta-analysis” study is a powerful tool in science, as it allows researchers to combine and compare findings from different sources to get a clearer, more reliable picture of the associations between potential risks and conditions such as autism. Importantly, the study confirmed an association between autism and such conditions as abnormal fetal presentation during delivery (for example, breech), fetal respiratory distress (breathing difficulties), birth injury or trauma, low 5-minute APGAR score (a 1-10 score for assessing newborn health after delivery), newborn seizures, low birth weight, multiple births (twins, triplets, etc.), anemia (low blood iron, and being born in the summer.

Of note, preterm birth was not found to be associated with ASD, of particular interest because there had been considerable differences on this count across earlier studies. Most importantly, perhaps, the researchers concluded that the evidence did not implicate any one perinatal or neonatal factor as causing autism by itself. Rather, the evidence suggests that a combination of these factors—reflecting generally poor conditions during and immediately after birth–may increase the risk that a child with an underlying genetic disposition will develop autism.

One common thread across several of these risk factors is that they result in a lack of adequate blood flow to the brain during the birth process. One hypothesis is that, when combined with a genetic predisposition, oxygen deprivation to the brain worsens abnormal brain development. Studying these and other environmental (versus genetic) risk factors for autism is important to increase our understanding of the biology of ASD and to provide practical guidance for physicians and parents on how to avoid or modify those risk factors that can be changed.

In addition, this meta-analysis strongly suggests that pediatricians and parents should closely monitor the development of babies born in difficult situations so that early intervention can be offered should developmental issues such as autism arise. What this study does not say is that difficult birth means a baby will go on to develop autism. Rather, these conditions and complications may increase the risk of autism among those who have a genetic predisposition for developing it.

As in my last post, I want to invite readers to explore the many environmental risk studies that Autism Speaks is supporting with donor dollars, scientific resources, and the participation of autism families in clinical studies. Please see our Grants Search and Participate gateways at www.autismspeaks.org. Thanks for being a vital part of our mission to improve the lives of all who struggle with autism. For more on the Pediatrics meta-analysis study, also see Autism Speaks news.

Twin Study Suggests Environmental Role in Autism: Now What?

July 7, 2011 31 comments

Posted by Alycia Halladay, PhD, director of research for environmental science, Autism Speaks

As reported last week, a large twin study supported by Autism Speaks compared the frequency with which identical and fraternal twins both share a diagnosis of autism. This approach enabled the investigators to use statistical techniques to calculate the degree to which environmental factors shared by twins contribute to their risk of developing autism. Such factors include conditions in the womb and during birth.

The results of the California Autism Twin study were game-changing because they revealed a much larger environmental influence than had previously been estimated—accounting for about 58% of the risk of developing autism. By contrast, much smaller twin studies had previously suggested that genes largely accounted  for a child’s risk of autism.

The results underscore the need to investigate the role that non-inherited risk factors play in the development of autism spectrum disorders (ASD). So what’s being done to help speed this research? And what role are Autism Speaks and its donor dollars playing in this effort?

Autism Speaks has funded over $21 million in the study of environmental risk factors, an initiative we call (obviously enough) the Environmental Factors of Autism Initiative. Already, we have a large body of evidence suggesting that it is not any one environmental factor, but many different factors working together, that elevate the risk and severity of autism in individuals with a genetic predisposition for this condition. In other words, autism is seldom caused by any one thing and neither is it an “all or nothing” condition.  Furthermore, different combinations of genetic and environmental risk factors contribute to individual cases of autism.

Within the Environmental Factors of Autism Initiative are ongoing studies focusing on environmental exposures that occur before and during pregnancy and throughout the first year of life—crucial periods for human brain development. These studies look at such possible risk factors as maternal and paternal age, socioeconomic status, season of birth, exposure to chemicals or toxic agents, nutrition and exposure to various pharmaceutical drugs during pregnancy, the difficulty of labor and delivery, and various other forms of prenatal stress.  The researchers we support are also investigating the mechanisms by which genes and the environment may interact (so-called epigenetics) and the role of the immune system.  We are also supporting large scale epidemiological studies that focus on pregnancy and the first year of life.  These include the EARLI study  and the IBIS study.

Are you interested in learning more about the studies Autism Speaks is funding with donor dollars? We are proud to debut the new Grant Search function on our website. Please use it to explore past and present research studies by topic or location. And if you or your family is affected by autism, please consider participating in one of our clinical studies.

Epidemiology sheds new light on risk factors for ASD

May 19, 2011 11 comments

by Alycia Halladay, Ph.D, Director of Environmental Science 

Research using identical and fraternal twins is typically used to identify genetic influences on the development of ASD.  This year, researchers studied a large group of twins and examined the concordance of different types of symptoms (1).  Using this approach, the researchers found that the concordance of severe autism between identical twins and fraternal twins was about the same, indicating a strong environmental component to ASD severity.  But what are those environmental factors?   Epidemiological studies are providing clues.

At this year’s IMFAR, new data was presented that focused on studying groups of people and their exposures to a number of environmental factors.   Each used different designs with their own unique advantages.  For example, at UC Davis, the CHARGE study (www.beincharge.ucdavis.edu) examined the risk of developing autism following exposure to a number of factors that were identified through self report or medical records.  Those that showed an association were antidepressant SSRI use (2) and metabolic disorders including hypertension and diabetes (3).  On the other hand, a previously identified factor, maternal infection, was not associated (4).  Why not?  The researchers suggested that fever, not infection per se, may be a factor.  Using self-report and medical records obtained prior to study entry may not accurately capture all relevant information, and an infection or fever may be missed in some reports.  However, other types of information, such as method of birth, is easier to gather accurately.  An analysis revealed that non-emergency or elective c-section deliveries did not show a significant association with autism, addressing a concern that many public and community stakeholders have expressed (5).

As an alternative to retrospective reports, the Early Markers of Autism Study in California is obtaining samples of blood from pregnant women by obtaining extra blood taken during the alpha-fetal protein screen that is banked.  Not all states bank these samples for research, so this is a unique resource.  By examining the levels of mercury in blood taken during pregnancy together with newborn blood spots, the researchers can get a more comprehensive picture of the prenatal environment.  They reported no difference in mercury levels compared to those of non-affected children during gestation, and also reported no difference in thyroid hormone levels (6,7).  Examination of subgroups of autism with regression did not change the results.  While these data are incredibly novel and valuable, these studies were not designed to capture information throughout the entire pregnancy nor capture factors after birth

Another way to study exposures during pregnancy is through birth certificate data.  In some states, the birth certificate contains information such as the place of birth and the occupation of the mother and the father.  Using this information, scientists found that occupational exposures in mothers to certain chemicals resulted in an increased risk of ASD in offspring (8).

While each approach brings unique strengths, all researchers agree that the most comprehensive way to capture all information accurately, is a prospective design.  This means identifying children as soon as possible and following them from that point on to gather every piece of relevant information from medical reports to blood samples.  Autism Speaks is proud to co-sponsor such a study:  the Early Autism Risk Longitudinal Investigation (EARLI).   This groundbreaking project will provide even more answers to what causes autism, and needs the help of the community to do so.

So how can researchers blend or expand their research if they are using only one type of design? Autism Speaks and the National Institutes for Environmental Health Sciences are sponsoring a network of projects called the Environmental Epidemiology of Autism Research Network (EEARN). The goal of this network is to improve communication among researchers in this field, identify opportunities for collaborative projects and improve research tools for both existing, and new projects. Over 20 studies from 8 countries are represented in the network. We will keep you updated on the activity of the network, and we hope you will keep checking in for updates.

1.     Understanding Clinical Variability In Autism: Results From a California Twin Study. W. Froehlich*1, S.

Cleveland1, A. Torres1, J. M. Phillips1, B. Cohen2, A. Fedele3, T. Torigoe2, J. Collins4, K. S. Smith5, L. Lotspeich1, L. A.  Croen4, S. Ozonoff6, C. Lajonchere7, J. K. Grether5, N. Risch8 and J. Hallmayer1, (1)Stanford University, Stanford, CA, (2)Autism Genetic ResourceExchange, Los Angeles, CA, (3)Autism Speaks, Westmont, NJ,

United States, (4)Kaiser Permanente, Division of Research, Oakland, CA, (5)California Department of Public Health, Richmond , CA, (6)UC Davis MIND Institute, Sacramento, CA, (7)Autism Speaks, Los Angeles, CA, United States, (8)University of California San Francisco, San Francisco, CA

2.     SSRI Use During Pregnancy and Risk of ASD or Developmental Delay In Children. R. A. Harrington*1,L. C. Lee1, C. K. Walker2, R. L. Hansen3, S. Ozonoff3 and I. Hertz-Picciotto4, (1)Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, (2)Department of Public Health Sciences, University of California at Davis, Davis, CA, (3)MIND Institute, University of California at Davis, Sacramento, CA, (4)Department of Public Health Sciences, University of California Davis, Davis, CA

3.     The Role of Maternal Diabetes and Related Conditions In Autism and Other Developmental Delays. P. Krakowiak*1,2, A. A. Bremer3, A. S. Baker1, C. K. Walker1,4, R. L. Hansen2,3 and I. Hertz-Picciotto1,2, (1)Public Health Sciences, University of California, Davis, Davis, CA, (2)M.I.N.D. Institute, Sacramento, CA, (3)Pediatrics, University of California, Davis, Sacramento, CA, (4)Obstetrics & Gynecology, University of California, Davis, Sacramento, CA

4.     Prenatal Influenza or Fever and Risk of Autism/Autism Spectrum Disorders. O. Zerbo*1, I. Hertz- Picciotto2,3, A. M. Iosif4, R. L. Hansen5,6,7 and C. K. Walker8, (1)Sacramento, CA, (2)University of California, Davis, Davis, CA, (3)Department of Public Health Sciences, University of California Davis, Davis, CA, (4)UC Davis, Davis, CA, (5)University of California, Davis, MIND Institute, Sacramento, CA, (6)MIND Institute, University of California at Davis, Sacramento, CA, (7)MIND Institute and Dept. of Pediatrics, University of California Davis, Davis, CA, (8)Department of Public Health Sciences, University of California at Davis, Davis, CA

5.     Cesarean Birth and Autism Spectrum Disorder. C. K. Walker*1, P. Krakiowiak2, A. S. Baker3, R. L. Hansen4, S. Ozonoff5 and I. Hertz-Picciotto6, (1)Obstetrics & Gynecology, UC Davis, Sacramento, CA, (2)Public Health Sciences, UC Davis, Sacramento, CA, (3)Public Health Sciences, UC Davis, Davis, CA, (4)Pediatrics, M.I.N.D. Institute, UC Davis, Sacramento, CA, (5)Psychiatry and Behavioral Sciences, M.I.N.D. Institute, UC Davis, Sacramento, CA, (6)Public Health Sciences, M.I.N.D. Institute, UC Davis, Davis, CA

6.     Prenatal and Neonatal Peripheral Blood Mercury Levels and Autism Spectrum Disorders. L. A. Croen*1, M. A. Lutsky1, C. Yoshida1, C. P. Alaimo2, M. Kharrazi3, J. K. Grether4 and P. Green2, (1)Kaiser Permanente Division of Research, Oakland, CA, (2)Civil and Environmental Engineering, Univ. of California Davis, Davis, CA, (3)Genetic Disease Screening Program, California Department of Public Health, Richmond, CA, (4)California Department of Public Health, Richmond, CA

7.     Prenatal and Neonatal Thyroid Stimulating Hormone Levels and Autism Spectrum Disorder. M. A. Lutsky*1, C. Yoshida1, B. Lasley2, M. Kharrazi3, J. K. Grether4, G. Windham4 and L. A. Croen1, (1)Kaiser Permanente Division of Research, Oakland, CA, (2)Department of Population Health and Reproduction, UC Davis, Davis, CA, (3)Genetic Disease Screening Program, California Department of Public Health, Richmond, CA, (4)California Department of Public Health, Richmond, CA

8.     Autism Spectrum Disorders In Relation to Parental Occupational Exposures During Pregnancy. G. Windham*1, J. K. Grether2, A. Sumner3, S. Li4, E. Katz5 and L. A. Croen6, (1)California Department of Public Health, Richmond, CA, (2)California Department of Public Health, Richmond, CA, (3)Vermont Department of Health, Burlington, VT, (4)Kaiser Permanente Divison of Research, Oakland, CA, (5)Occupational Health Branch, CA Department of Public Health, Richmond, CA, (6)Kaiser Permanente Division of Research, Oakland, CA

Is early intervention for ASD actually prevention?

May 15, 2011 12 comments

By: Alycia Halladay, Ph.D., Director of Research, Environmental Health Sciences

As the average age at which early signs and symptoms of autism and diagnosis moves becomes younger and younger, methods for intervening at autism at the earliest possible ages are becoming more widely used. At this year’s IMFAR meeting, several clinicians and researchers addressed differences in design, methods, and identified challenges and potential solutions for delivering intervention from individuals with ASD as young at 10 months of age. Since this is when very early symptoms of ASD can be detected, but not yet diagnosed, many are considering this as a method of prevention rather than intervention. A feasible and cost-efficient way to provide interventions to infants and toddlers is to engage parents and train them to use behavioral techniques to improve development. What works for adolescents and adults does not apply to infants and toddlers. Instead of spending time working on specific tasks and skillsets, clinicians work with parents and provide ongoing support to engage children in social, communication and motor skills during playtime activities. But does this prevent ASD?

The simple answer is that it is very complicated. As reported in an earlier report, one size does not fit all. There may be a number of variables that affect outcome. In addition, last year, a report out of the UK last year reported that parent-mediated interventions did not result in a change in diagnostic status in young children. This same group showed new data at IMFAR this year showing that the intervention was effective in some ways – infants showed increased attention and gestures as well as improved shared interest. These early improvements are thought to lead to a higher level of functioning later on.

Children with ASD suffer from impoverished social interaction, and parents can be instrumental in providing stimuli to their children to change behavior. Most interventions now focus on encouraging parents to actively engage the child using evidence based strategies, in natural environments. Other types of interventions that were used included promoting behaviors and responsiveness in the context of everyday routines.

Given that published research don’t actually prevent ASD, but improve long-term outcomes, is the goal of early interventions to reduce the incidence of ASD? Alice Carter, member of the Autism Speaks Toddler Treatment Network noted that earlier screening and delivery of parent interventions which improve joint attention, and coordinated attention between parent and child – may prevent symptoms down the road, but may not always lead to a change in diagnosis. She stated “working with parents can make a huge difference in many children’s lives.”

Improved outcome measures which are more sensitive to improvements over time on a number of domains need to be developed to better describe these differences. In addition, working with a young child at home is difficult in any situation, and especially for families affected by ASD. Therefore, methods and techniques to maximize the amount of time parents deliver effective interventions are considered a priority. Autism Speaks is proud to sponsor this network in thinking about these important issues.

Using the well baby checkup to screen for autism

April 28, 2011 4 comments

by Autism Speaks’ Staff bloggers Alycia Halladay, Ph.D., Director of Environmental Science and Geri Dawson, Ph.D., Chief Science Officer

In 2007, the American Academy of Pediatrics published guidelines recommending that all children be screened for autism at their 18 and 24 month well baby checkups.  While these recommendations have not been universally implemented in clinical practice, these guidelines are a positive step forward. New research from the Baby Siblings Research Consortium suggests that signs of autism can be detected as early as 6-12 months.   Early detection and subsequent early intervention provide hope of changing the developmental trajectories of children with ASD to improve their outcome.

A recent study published in the Journal of Pediatrics, and supported by Autism Speaks, aims to address each of these challenges by utilizing a checklist called the Communication and Symbolic Behavior Scales Developmental Profile Infant-Toddler Checklist.  Lead author Karen Pierce, Ph.D. of UCSD asked pediatricians to use this instrument as part of a well-baby checkup.  This checklist was developed by Amy Wetherby, Ph.D., who was instrumental in creating the Autism Video Glossary.  The instrument is also available online at www.firstsigns.org.

The researchers took a multi-phase approach.  They first provided training to pediatricians on the signs and symptoms of autism.  Such an approach has been used successfully before by a group at Vanderbilt University.  However, this study screened infants as early as 12 months of age and conducted the 1 year screening in pediatricians’ offices, which had not been done before.  Next, parents were asked to fill out the questionnaire in the waiting room, and the questionnaire was scored by the time the parent met with the physician.  The checklist responses from parents then were reviewed by participating pediatricians, and children who were flagged by the questionnaire were referred to a UCSD clinic for further evaluation.  About 12% of children who were screened were referred to the clinic for an evaluation.  Of those, about half were followed to 3 years of age and 17% were later diagnosed with an ASD.  Other diagnoses included learning disabilities and developmental disabilities.

This study is important for several obvious and some not so obvious reasons.  First, and perhaps most importantly, this study shows that it is feasible for pediatricians to become actively engaged in an easy-to-implement early screening program for ASD for children as young as 12 months of age.   Also important, all families who were interested were able to obtain the services of a clinician very early in their child’s development.  For those that were later diagnosed with an ASD, 100% received treatment by 17 months.

Second, a training program that increased awareness about ASD in the medical community among pediatricians produced a long-term impact on their practice.  Only 22% of pediatricians involved were screening for autism at 1 year before the program; now all of them report they are maintaining the use of the toddler checklist.

However, this method is not without its limitations.  The effectiveness of this program depends on the ability of pediatricians to have access to and a relationship with a clinic they can refer to, which is not the case in every area of the country or the world.  Also, not all infants who were referred went on to receive an evaluation, for reasons that are unclear.   The results suggest that early screening may enhance, not replace, evaluation at 18 and 24 months to ensure that cases that may not be detected as early as 12 months are not missed.

We applaud the work of Pierce and her colleagues for their efforts to identify autism as early as possible and bring primary medical care staff into that process.  Studies such as this highlight the many very important steps, undertaken by the Baby Siblings Research Consortium, the Autism Treatment Network and the Toddler Treatment Network, to ensure that children are screened as early as possible, seen by a clinician as part of a full evaluation, and then treated by trained personnel for medical and behavioral interventions.  Additional efforts should be made to ensure that parents have access to a knowledgeable pediatrician and are provided with the resources to follow up on the recommendations.

Reference:

Karen Pierce, PhD, Cindy Carter, PhD, Melanie Weinfeld, PhD, Jamie Desmond, MPH, Roxana Hazin, BS, Robert Bjork, MD, and Nicole Gallagher, BA.  Detecting, Studying, and Treating Autism Early: The One-Year Well-Baby Check-Up Approach, J. Pediatrics, 2011 (published online April 28, 2011).

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