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Genetic Analysis Links Autism to Missing Brain Structure

Source: 
Simons Foundation Autism Research Institute
Date Published: 
November 14, 2013
Abstract: 

The largest genetic analysis yet conducted of people lacking a brain structure called the corpus callosum shows that the condition shares many risk factors with autism. The study was published PLoS Genetics. The corpus callosum is the thick bundle of nerve fibers that connects the two hemispheres of the brain. People lacking this structure, a condition called agenesis of the corpus callosum (AgCC), often have social impairments, and roughly one-third of adults meet diagnostic criteria for autism. Children with autism seem to have a smaller corpus callosum than controls do.

Autism Science Foundation Announces 2013 Research Enhancement Grant Recipients

(November 12, 2013 -- New York, NY)—Today, the Autism Science Foundation, a not-for-profit organization dedicated to funding autism research, announced the recipients of research enhancement mini grants.   These grants are intended to enable researchers to expand the scope or increase the efficiency of existing grants, or to take advantage of changes or findings that have occurred in or around the project that warrant more funding.  Six projects were selected for funding.
 
"Our goal with this funding mechanism is to speed up the pace of research and remove research obstacles” said ASF president Alison Singer.  “We want researchers to be able to move quickly when they've made the kind of breakthrough that just needs a bit more funding to exploit rapidly”. 
 
The following projects were selected for enhancement grant funding:
 
Sex Differences in the Neural Mechanisms of Treatment Response
Dr. Pam Ventola/Yale University
This grant will support a 16-week Pivotal Response Treatment trial to expand work funded by Dr. Kevin Pelphrey’s center. This funding will add an additional cohort of girls and will focus on the sex-based differences in neural response to treatment, which is not included in the current NIH funding.
 
Use of Real Time Video Feedback to Enhance Special Education Teacher Training
Dr. Jessica Suhrheinrich/University of California at San Diego
Funds will be used to purchase iPads for teachers to enable real-time feedback during a study implementing classroom based Pivotal Response Training in preschool through fifth grade special education classes. This is significant because this study will focus on teachers who were not previously able to master PRT.
 
The Effects of Autism on the Sign Language Development of Deaf Children
Dr. Aaron Shield/Boston University
This grant will expand the control group of typically developing deaf children to compare to deaf children with ASD.  Findings from this study will inform the eventual adaptation of the Autism Diagnostic Observation Schedule and other instruments for use with deaf and hard-of-hearing children. It will also inform the design of future interventions with deaf and hard-of-hearing children with ASD.
 
Cross-Modal Automated Assessment of Behavior during Social Interactions in Children with Autism Spectrum Disorder
Dr. Adam Naples/Yale University
This grant supports implementation of hardware to monitor a child’s facial expression, gaze, speech, and posture during recording of neural activity in Dr. James McPartland’s lab. This technology will enable simulation of interpersonal interactions based on a child’s verbal and nonverbal behavior. This study will investigate the brain mechanisms of multimodal reciprocal social interaction for the first time.
 
Role of Astrocytic Glutamate Transporter GLT1 in Fragile X Syndrome
Dr. Haruki Higashimori/Tufts University
This grant will allow for promising new discoveries in mice with Fragile X Syndrome to be tested on human brain tissue samples. This is significant because it will bridge their findings from rodent models to humans and help further validate a new therapeutic target for Fragile X and autism. This study builds on a finding during Higashimori’s Autism Science Foundation Post-Doctoral fellowship. 
 
Partners in Schools: A Program for Parents and Teachers of Children with Autism
Dr. Gazi Azad/University of Pennsylvania
Funds will provide financial incentives for urban, public school parents and teachers to participate in a study testing a new paradigm to improve parent-teacher communication about evidence-based interventions. This project will result in a new culturally sensitive tool for communication improvement, which is the first step in fostering family-school partnerships for children with autism.
 
 
The Autism Science Foundation is a 501(c)(3) public charity. Its mission is to support autism research by providing funding to scientists and organizations conducting autism research. ASF also provides information about autism to the general public and serves to increase awareness of autism spectrum disorders and the needs of individuals and families affected by autism. To learn more about the Autism Science Foundation or to make a donation visit www.autismsciencefoundation.org.  
 
 
Contact Information:   
Casey Gold
cgold@autismsciencefoundation.org
 
 
To download this press release, please click here

Mild Traits of Autism May Shift with Cultures

Source: 
Simons Foundation Autism Research Initiative
Date Published: 
November 4, 2013
Abstract: 

Clinicians around the world diagnose children with autism, but is autism the same disorder around the world? A team of researchers has begun testing this question by comparing children in two European countries. The American definition of autism travels well across international borders in the case of British and Finnish children, they reported in the journal Autism. However, when the researchers compared mild traits of autism — collectively referred to as broad autism phenotype, or BAP — those of children from Finland do not line up well with descriptions in the DSM-5. This may be because of differences in language, culture and genetics between Finland and the U.K.

Attention to Eyes is Present but in Decline in 2–6-Month-old Infants Later Diagnosed with Autism

Source: 
Natue
Date Published: 
November 6, 2013
Abstract: 

Today, in a publication in Nature, scientists show that it is possible to identify markers of autism in the first 6 months of life, much before children begin to show symptoms. In this study, these markers predicted both diagnosis and level of disability 2 1Ž2 years later when the children were evaluated by expert clinicians. The scientists used eye-tracking technology to measure the way babies visually engage with others. If these results are replicated in larger samples, these procedures might in the future empower primary care physicians to screen for autism as part of routine well-baby check ups. Equal energy and resources will then have to be invested in improving access to early treatment so that children are afforded the opportunity to fulfill their full potential.

Click here for the full article from Nature.

Click here for the New York Times article, Baby's Gaze May Signal Autism, a Study Finds

 

Earliest marker for autism found in young infants

NIH-funded study finds attention to others' eyes declines in 2 to 6-month-old infants later diagnosed with autism

Eye contact during early infancy may be a key to early identification of autism, according to a study funded by the National Institute of Mental Health (NIMH), part of the National Institutes of Health. Published this week in the journal Nature, the study reveals the earliest sign of developing autism ever observed—a steady decline in attention to others' eyes within the first two to six months of life.

"Autism isn't usually diagnosed until after age 2, when delays in a child's social behavior and language skills become apparent. This study shows that children exhibit clear signs of autism at a much younger age," said Thomas R. Insel, M.D., director of NIMH. "The sooner we are able to identify early markers for autism, the more effective our treatment interventions can be."

Typically developing children begin to focus on human faces within the first few hours of life, and they learn to pick up social cues by paying special attention to other people's eyes. Children with autism, however, do not exhibit this sort of interest in eye-looking. In fact, a lack of eye contact is one of the diagnostic features of the disorder.

To find out how this deficit in eye-looking emerges in children with autism, Warren Jones, Ph.D., and Ami Klin, Ph.D., of the Marcus Autism Center, Children's Healthcare of Atlanta, and Emory University School of Medicine followed infants from birth to age 3. The infants were divided into two groups, based on their risk for developing an autism spectrum disorder. Those in the high risk group had an older sibling already diagnosed with autism; those in the low risk group did not.

Jones and Klin used eye-tracking equipment to measure each child's eye movements as they watched video scenes of a caregiver. The researchers calculated the percentage of time each child fixated on the caregiver's eyes, mouth, and body, as well as the non-human spaces in the images. Children were tested at 10 different times between 2 and 24 months of age.

By age 3, some of the children—nearly all from the high risk group—had received a clinical diagnosis of an autism spectrum disorder. The researchers then reviewed the eye-tracking data to determine what factors differed between those children who received an autism diagnosis and those who did not.

"In infants later diagnosed with autism, we see a steady decline in how much they look at mom's eyes," said Jones. This drop in eye-looking began between two and six months and continued throughout the course of the study. By 24 months, the children later diagnosed with autism focused on the caregiver's eyes only about half as long as did their typically developing counterparts.

This decline in attention to others' eyes was somewhat surprising to the researchers. In opposition to a long-standing theory in the field—that social behaviors are entirely absent in children with autism—these results suggest that social engagement skills are intact shortly after birth in children with autism. If clinicians can identify this sort of marker for autism in a young infant, interventions may be better able to keep the child's social development on track.

"This insight, the preservation of some early eye-looking, is important," explained Jones. "In the future, if we were able to use similar technologies to identify early signs of social disability, we could then consider interventions to build on that early eye-looking and help reduce some of the associated disabilities that often accompany autism."

The next step for Jones and Klin is to translate this finding into a viable tool for use in the clinic. With support from the NIH Autism Centers of Excellence program, the research team has already started to extend this research by enrolling many more babies and their families into related long-term studies. They also plan to examine additional markers for autism in infancy in order to give clinicians more tools for the early identification and treatment of autism.

 

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Reference: Jones W, Klin A. Attention to eyes is present but in decline in 2-6-month-old infants later diagnosed with autism. Nature, Nov. 6, 2013.

Grant: R01MH083727

About the National Institute of Mental Health (NIMH): The mission of the NIMH is to transform the understanding and treatment of mental illnesses through basic and clinical research, paving the way for prevention, recovery, and care. For more information, visit http://www.nimh.nih.gov.

About the National Institutes of Health (NIH): NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit http://www.nih.gov.

 

Genetic Link Between Family Members with Autism and Language Impairment

Source: 
American Journal of Psychiatry
Date Published: 
October 30, 2013
Abstract: 

New research shows a genetic link between individuals with autism and family members with specific speech and language difficulties otherwise unexplained by cognitive or physical problems. Researchers discovered that genes in a small region of two chromosomes can lead to one family member developing autism and another family member only developing language impairment.

Spinning System Turns Stem Cells Into Mini-Brains

Source: 
Simons Foundation Autism Research Institute
Date Published: 
October 30, 2013
Abstract: 

Researchers have coaxed human stem cells to develop into simplified mini-brains, with regions resembling discrete brain structures, reported in the journal Nature. A spinning culture system prods stem cells to develop into neurons in three dimensions. The culture system is a gelatinous protein-rich mixture that provides both the structural support and nutrients required for neuronal development. Already, the researchers have shown that these artificial brains may model human disorders better than real mouse brains do.

Maternal Prenatal Weight Gain and Autism Spectrum Disorders

Source: 
Pediatrics
Date Published: 
October 28, 2013
Abstract: 

New research from the University of Utah and published in the journal Pediatrics has uncovered an association between autism spectrum disorders and a small increase in the amount of weight a mother gains during pregnancy. These findings suggest that weight gain during pregnancy is not the cause of ASD but rather may reflect an underlying process that it shares with autism spectrum disorders, such as abnormal hormone levels or inflammation.

Researchers Can Now Track Multiple Mice Simultaneously

Source: 
Simons Foundation Autism Research Institute
Date Published: 
October 16, 2013
Abstract: 

Researchers have developed software that can automatically track and catalog the behavior of up to four mice at once. Mice are often used for autism research because they are easy to manipulate genetically. This new method, which involves using images taken by a heat-sensing camera and a new software algorithm, makes collecting research more efficient.

Study Ties Growth Factor to Autism

Source: 
Simons Foundation Autism Research Initiative
Date Published: 
October 22, 2013
Abstract: 

Mutations in the autism-linked protein NHE6 may block the development of neuronal junctions by interfering with a growth factor called BDNF, according to a study published in the journal Neuron. The results suggest that drugs that enhance BDNF signaling could treat some forms of autism, the researchers say.

Kids with Autism are Often on Many Medications at Once

Source: 
Pediatrics
Date Published: 
October 21, 2013
Abstract: 

According to a new study in the journal Pediatrics, kids with autism are often prescribed mood altering drugs, sometimes many at one time and for extended periods of time. These drugs include antipsychotics, antidepressants, and anti-anxiety medications. The study states that this practice occurs despite minimal evidence of the effectiveness or appropriateness of multidrug treatment of ASD.