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New Findings Hold Promise for Revolutionary Pre-Symptom Screening

February 17, 2012 5 comments

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

I want to share my perspective on an important new research finding released today. The study is headed up by Joe Piven, at the University of North Carolina, Chapel Hill. I am a co-author. The study followed the early brain development of 92 infant siblings, 28 of whom went on to develop autism spectrum disorder (ASD). Infants were imaged using MRI at 6, 12 and 24 months. Those who later developed ASD showed abnormal development of white matter fiber tracts by 6 months. White matter is the part of the brain cell, or neuron, that connects one part of the brain to another. (See our related news item here.)

This finding tells us that, very early and before the emergence of behavioral symptoms, the neural networks that connect different brain regions are not developing normally in infant siblings who go on to develop autism. Previous studies of both children and adults have repeatedly shown that autism involves abnormal connectivity between different brain regions. In fact, my colleagues at the University of Washington and I did one of the first studies to show this.

Now we are seeing that these changes are evident by 6 months of age. Future research is needed to help us understand what is causing these early brain changes.

Why is this finding important?  First, it helps us understand why people with autism have trouble with complex behaviors such as social interactions. Even simple social behaviors involve coordination of many brain systems. For instance, when something catches a baby’s interest, the normal response is a combination of gestures, babbling and eye contact. This requires several brain regions to communicate efficiently with one another.

Even more important, these results offer promise of using imaging results or other “biomarkers” to flag risk of ASD before symptoms become evident. In other conditions such as Alzheimer’s disease and Parkinson’s disease, such early biomarkers are being used to identify those at risk and allow treatment to start before symptoms appear – to maximize benefits.

We can imagine the day when noninvasive brain imaging is available for babies at high risk for autism (such as infant siblings of affected children). When the imaging reveals tell-tale abnormalities, these babies can receive medical or behavioral treatments that stimulate normal brain development. For example, a recent study by Marcel Just demonstrates that certain reading interventions for children with reading disabilities produce positive changes in the children’s brain white matter, or neural connectivity.

So, it’s reasonable to consider that some of the changes we are seeing in 6-month-old infants might likewise be improved through early intervention. Just’s study suggests that such “rewiring” may possible even later in life with interventions that support the connectivity between different brain regions.

Parents who are concerned that their baby might be at risk for autism may be wondering whether they should ask their doctor to order an MRI. The results published today are too preliminary for that. We are not recommending MRI screening for autism at this point. The best way to screen for autism at this time is to look for early behavioral signs (see Learn the Signs) and use screening tools such as the M-CHAT.

The research published today was funded in part by Autism Speaks and would not be possible without our community’s passionate and continuing support. Thank you.

A Weatherstone Grad Reflects on Entering Autism Research

November 29, 2011 5 comments

Posted by Dennis Weatherstone Pre-Doctoral Fellow Elaine Hsiao

 

Nearly seven years ago, I made the all-important decision to pursue a future in scientific research. I was inspired by the ability of research to humble far-fetched ideas into reality, and I wanted to help uncover knowledge that would serve as an indispensable foundation for the advancement of medicine, technology and industry. Importantly, I saw an opportunity to evoke change in a way that improves lives.

As I enter my fifth year of studying the molecular underpinnings of autism, it is precisely these real-life applications of scientific research that continue to motivate me. I am grateful for the support of Autism Speaks and its numerous donors, in defending the realization that only by pushing the frontiers of science will solutions to today’s most pressing problems be found.

As an Autism Speaks Weatherstone fellow, I have been studying maternal infection as a primary environmental risk factor for autism, under the guidance of neurobiologist Paul Patterson, PhD, at the California Institute of Technology. Using animal models, we are uncovering the biological pathways that implicate infection in the development of core behavioral symptoms of autism as well as associated alterations in brain development. We are further exploring means for effective prevention and treatment, with aims to translate our findings to the identification of potential biomarkers and targets for effective therapies.

Support from the Weatherstone fellowship has also allowed us to explore the potential connections between gastrointestinal (GI) complications, immune dysregulation and behavioral symptoms in animal models for autism. We are very excited that this is now part of a larger collaborative research effort supported by Autism Speaks, with the aim of better understanding gastrointestinal GI and immune dysfunction in certain subsets of persons affected by autism.

In addition to providing financial support for my studies, the Weatherstone fellowship has given me unique opportunities to interact with leading scientists in autism research. I am truly inspired by the breadth and depth of research being conducted by my Weatherstone colleagues and by scientists worldwide. Exchanging ideas with scientists from other laboratories and disciplines greatly informs my own work.

Finally, I am deeply grateful to Autism Speaks and the Weatherstone fellowship for providing unique forums for scientists to interact with individuals and families directly affected by autism. Being able to convey the promises, obstacles and advances of autism research to the community is not only rewarding, but also very constructive. Likewise, my time with these individuals and families—time spent learning about their experiences and needs—drives my desire to conduct autism research that is innovative and informative.

With the valuable training I have received through doctoral research combined with the unique experiences I have gained as a Weatherstone fellow, I feel prepared to pursue a productive career in scientific research, with aims to uncover knowledge that will better our understanding of autism’s causes and lead to the development of more effective tools for its diagnosis and treatment. 

[Editor’s note: Administered by Autism Speaks and funded by the Stavros Niarchos Foundation, the Dennis Weatherstone Predoctoral Fellowship Program encourages the most promising young scientists to choose autism research as their career through funding and direct mentoring by the field’s leading investigators.)

Read more news and perspective on the Autism Speaks science page.

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