By Dr. Paul El-Fishawy
Researchers at Yale and the University of California San Diego have discovered a new, likely rare, recessively inherited form of classic autism with epilepsy. Simultaneous errors in the genetic code of both the maternally and paternally inherited copies of a single gene, BCKDK, cause the disorder. The protein created by BCKDK acts as a brake on the body’s degradation of 3 amino acids (the branched chain amino acids). These nutrients, present in dietary protein, cannot be synthesized by the body but must be ingested. In patients with this form of autism, blood levels of these amino acids are significantly lower than normal, despite normal levels of other amino acids and adequate nutrition. Mice with the same genetic abnormality have neurological deficits that can be ameliorated by supplementing their diet with branched chain amino acids. This suggests the possibility that patients with this specific, likely rare disorder could benefit from supplementation and that autism could be potentially be prevented in infants with this disease.
However, it is critical to note that so far cases of this disorder have only been found in only three, rare families in the Middle East where the parents are related as first cousins. To date, no cases of autism in out-bred families in the United States or other Western countries have been shown to be attributable to this genetic defect. Thus, the discovery should not lead to the immediate alteration of current practices of diagnosis and treatment of patients in countries like the United States where cousin marriages are uncommon. There is no evidence from this study that supplementing autistic patients without this specific disorder with branched chain amino acids would be of any benefit.
We do not know how low levels of branched chain amino acids are causing autism in the patients. The importance of the finding is that it reveals a new biological pathway and a new biological marker. The hope is that further scientific exploration of this pathway could lead to improved diagnosis and treatments not only for patients with this specific disorder but also for other autistic patients.
One hypothesis about how low branched chain amino acids could be causing autism in these patients is that they could be leading to altered levels of neurotransmitters in the brain. The branched chain amino acids and other amino acids that compete with them for entry from the blood into the brain are key building blocks for the neurotransmitters glutamate, GABA, dopamine, and serotonin.
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By Dr. Meghan Swanson
Meghan Swanson is a Postdoctoral Fellow at the Communication & Play Laboratory at Hunter College, City University of New York
Of all the scientific/academic conferences that I’ve attended, the International Meeting for Autism Research is by far my favorite. So I was thrilled when the Autism Science Foundation selected me as an IMFAR Travel Grantee. With ASF’s generous support I traveled to IMFAR 2012 in Toronto from May 17th to 19th and these are my experiences:
The weeks and months prior to IMFAR I had my nose in the books and fingers on the keyboard preparing for my dissertation defense. On April 18th I defended my dissertation and my degree was officially awarded on April 26th. So for many reasons this year’s IMFAR meeting was different for me. This year I attended as a newly minted Ph.D., attempting to make the transition from student to colleague.
Since I was presenting my own research on Thursday, much of the day was spent preparing and standing by my poster. Presenting posters can be such a valuable learning experience. Every year I have the “why didn’t I think of that?” moment and am so appreciative of everyone’s thoughts and enthusiasm. Recently, the study I presented at IMFAR was accepted for publication in the Journal of Autism and Developmental Delays. Click here if you’d like to read it (email email@example.com if you would like me to email you a PDF): .
On Friday, I found myself inspired by Bernie Devlin’s talk on gene discovery. He masterfully put into picture how far we have come as a field and what the future has in store for us. Friday morning I was also able to catch a talk by the prolific Charles Nelson (Bucharest Early Intervention Project). In his talk he discussed the difficulties of doing research with baby siblings of children with autism. On average 1 in 5 of these baby siblings go on to have ASD, so if we look for endophenotypes (subclinical traits associated with autism) in these populations we may be identifying endophenotypes for “risk” of autism rather than endophenotypes for autism itself. He also spoke about a research study where he showed infants pictures of their mothers and strangers. He found that high risk infants (baby siblings) and low risk infants didn’t show the same brain patterns in response to the pictures.
In the Friday afternoon oral presentations on early developmental processes and trajectories I attended what I think was the “coolest” talk of the conference. This talk by J.D. Jones, Ami Klin, and Warren Jones introduced a new approach to analyzing eye-tracking data. The approach quantifies allocation of visual resources and used “kernel density analysis at each moment in time in TD children to create a continuously changing map of normative salience in relation to movie-content” (from abstract). As an eye-tracking researcher myself, I was fascinated by this new approach and taken aback by the ingenuity and creativity on the part of this research group.
On Saturday I saw a talk by James McPartland during the Electrophysiology oral presentations. He presented a study where he cleverly collected ERP and EEG data in a single paradigm. Participants also completed the Autism Quotient and the Reading the Mind in the Eyes Task (both are measures of the broad autism phenotype). His data analysis utilized Bayesian structural equation modeling and linked traits to behavior to brain!
On Saturday afternoon I found myself in an Educational Symposium presentation by Dr. Cathy Lord. Dr. Lord presented research that highlighted the disparity is services found across different ethnic groups. She noted that a study from 20 years ago found that African American families were receiving 10 times fewer services when compared to white families. There was also an interaction with maternal education, with low-educated African American families receiving fewer services than African American families’ higher education attainment. On a sobering note, she indicated that this gap in services was at its greatest 7 years ago, but then the gap shrank for 2 years, only to remain stable for the last 5 years. For me this talk was the perfect way to wrap up my IMFAR 2012 experience. It served as a worthy reminder that as an autism researcher my number one priority has to be the families that I serve!
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Autism Science Foundation is in the running for a $10K grant from the Chase Community Giving Contest
— but we need your votes to rise to the top before September 19th!
All Your Questions Answered
How do I vote for ASF?
On the Chase Community Giving
voting page, search for “Autism Science Foundation” to find ASF’s page then click Vote and follow instructions to share with your friends to vote again!
How many times can I vote?
All Facebook users are eligible for one vote during the contest, which ends September 19th, and an additional vote for “sharing” your vote with your Facebook friends. Finally, Chase card holders are eligible for a 3rd vote. All votes may be cast for the same charity.
How do I access additional votes?
may cast their additional vote here
. Also, don’t forget to “share” your vote with your friends after you’ve voted to gain an additional vote!
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