Autism Model in Mice Linked With Genetics

For the first time, researchers have linked autism in a mouse model of the condition with abnormalities in specific regions of mouse chromosomes.

This is big news and may help explain the role of genetics in autism.

The chromosome regions contain genes that have been linked to non-typical brain development and activity.

“These discoveries in mice may eventually pave the way towards understanding autism in human patients and devising new treatments,” said co-senior author, Elliott H. Sherr, MD, PhD, a pediatric neurologist at UCSF Benioff Children’s Hospital and professor of neurology at UC San Francisco (UCSF).

The press release is here.

The findings are reported in a study published on April 15 in PLOS One.

The scientists bred a group of typical mice with a line of genetically modified mice with the mouse equivalent of autism. The 400 descendants of that crossbreeding, explained Sherr, “had a random assortment of genetics — some normal and healthy, some aberrant.”

The scientists exhaustively observed and recorded the behavior of each descendant mouse. Since each animal’s genetic makeup was already known, the researchers were able to pinpoint associations between specific autistic behaviors and specific chromosomal regions.

“This allowed us to say which regions we think contain the genes that contribute to which behavior,” said Sherr.

Sherr noted that those regions “contain genes that are already known to cause autism in humans, or are involved in brain development in such a way that makes it likely that they can cause autism.”

To test for autistic behavior, the mice were put in the middle chamber of an enclosure with three chambers. In the chamber on one side was another mouse; in the other, an inanimate object. “Mice are social animals, so a normal mouse would spend much more time in the chamber with the other mouse,” said Sherr. “An autistic mouse would spend more time with the object, or equal time with the object and the other mouse, because it didn’t care.”

The researchers also observed what the mice did when they were in a chamber together. “A healthy mouse will spend a lot of time sniffing or interacting with the other mouse, while an autistic mouse will roam around the chamber ignoring the other mouse as if it was inanimate,” said Sherr.

The research will have a number of potential benefits, he said, particularly once researchers pinpoint the exact locations of the genes on the chromosomes. “Having the genes means that you can begin to pick apart the connection between the genes and the actual behavior, and look at how the mutation on a gene might result in aberrant behavior. Having an animal model means that you can look at the anatomy in a more careful way, study the cells in a tissue culture dish and manipulate them in other ways.”

Scientists will also be able to test the effects of exposure to toxins and other substances on the development of autism, he said.

Eventually, said Sherr, “Having an animal model will let us test potential drugs to treat autism.”

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It’s in the Gaze

Eye spy

Photo via Flickr

A study published last month in the American Journal of Psychiatry has interesting things to say about autism and gaze.

Apparently, kids as young as 7 months, who were later diagnosed with autism, were found to shift their gaze measurably slower than neurotypical babies. The scientists also identified specific brain circuits that seem to cause the slower response. The findings point to a problem with “sticky attention,” a phenomenon observed in preschool and older children with autism, but not well studied before in babies at risk for autism.

The study was conducted by the Infant Brain Imaging Study (IBIS) Network, which includes researchers at the Center for Autism Research at The Children’s Hospital of Philadelphia, which provided the press release.

“This is a very exciting study, because the impairments in shifting gaze and attention that we found in 7-month-olds may be a fundamental problem in autism,” said Robert T. Schultz, Ph.D. Director of the Center for Autism Research at CHOP and a co-author on the study. “These results are another piece of the puzzle in pinpointing the earliest signs of autism. Understanding how autism begins and unfolds in the first years of life will pave the way for more effective interventions and better long-term outcomes for individuals with autism and their families.”

These findings suggest that 7-month-olds who go on to develop autism show subtle, yet overt, behavioral differences prior to the emergence of autism spectrum disorder (ASD). They were slower than both high-risk-negative and low-risk infants to orient or shift their gaze to objects that appeared outside their direct gaze (by approximately 50 millisceconds). Results also implicate a specific neural circuit (the splenium of the corpus callosum), which may develop differently in those at risk for ASD compared to typically developing infants, who show more rapid orienting to visual stimuli. The study concluded that atypical visual orienting is an early feature of later emerging ASD and is associated with a deficit in a specific neural circuit in the brain.

The study included 97 infants: 16 high-risk infants later classified with an ASD, 40 high-risk infants not meeting ASD criteria (i.e., high-risk-negative) and 41 low-risk infants. For this study, infants participated in an eye-tracking test and a brain scan at 7 months of age and a clinical assessment at 25 months of age.

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Friday Flick: Changing the World Is a Walk in the Park

Our Central Park Challenge is just around the corner! This most inclusive of events takes place in the heart of the most diverse city on earth on June 1. If it’s anything like last year’s event, it will be the best day of 2013.

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Mutations Found in People With Autism Interfere With Endocannabinoid Signaling in the Brain

774 - Neuron Connection - Pattern

Photo by Patrick Hoesly

This is from a new press release out of Stanford University Medical School:

Mutations found in individuals with autism block the action of molecules made by the brain that act on the same receptors that marijuana’s active chemical acts on, according to new research reported online April 11 in the Cell Press journal Neuron. The findings implicate specific molecules, called endocannabinoids, in the development of some autism cases and point to potential treatment strategies.

What does this mean, exactly? And does this have anything to do with this?

“Endocannabinoids are molecules that are critical regulators of normal neuronal activity and are important for many brain functions,” says first author Dr. Csaba Földy, of Stanford University Medical School. “By conducting studies in mice, we found that neuroligin-3, a protein that is mutated in some individuals with autism, is important for relaying endocannabinoid signals that tone down communication between neurons.”

When the researchers introduced different autism-associated mutations in neuroligin-3 into mice, this signaling was blocked and the overall excitability of the brain was changed.

“These findings point out an unexpected link between a protein implicated in autism and a signaling system that previously had not been considered to be particularly important for autism,” says senior author Dr. Thomas Südhof, also of Stanford. “Thus, the findings open up a new area of research and may suggest novel strategies for understanding the underlying causes of complex brain disorders.”

The results also indicate that targeting components of the endocannabinoid signaling system may help reverse autism symptoms.

The study’s findings resulted from a research collaboration between the Stanford laboratories of Dr. Südhof and Dr. Robert Malenka, who is also an author on the paper.

Via CellPress

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Are You Ready for Managed Care?

A key feature of our 2013 International Conference will be Premier HealthCare’s full-day conference “Are You Ready for Managed Care?” for health care professionals, social workers and family members, on Tuesday, May 7.

The day will bring together experts and thought leaders in the field of health care for people with disabilities to discuss the challenges and opportunities presented by the changes in funding and systems both nationally and in the state of New York. This is a must for health care professionals who treat or work with people with disabilities.

You can download the agenda here and register for this and other conference sessions here. We offer special discount for groups of three or more. If you have any questions, please contact Abbe Wittenberg at 212-255-4040 ext 5113.

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Diagnosis Depends on Behavior, Not Biology the small thingie.

Via Flickr

Here’s more on diagnosis bias.

We’ve covered this before, and it definitely can’t be discounted.

New research from the University of Wisconsin-Madison shows that the age at which a child with autism is diagnosed is related to the behavioral symptoms he or she exhibits.

Not too surprising.

Certain diagnostic features, including poor nonverbal communication and repetitive inclinations, were associated with diagnosis at an earlier age. Displaying more behavioral features was also associated with earlier diagnosis.

The study was published in the April issue of the Journal of the American Academy of Child and Adolescent Psychiatry.

“Early diagnosis is one of the major public health goals related to autism,” says Matthew Maenner, a researcher at the UW-Madison Waisman Center and the study’s lead author. “The earlier you can identify that a child might be having problems, the sooner they can receive support to help them succeed and reach their potential.”

Maenner says that there is a large gap between current research and what is actually happening in schools and communities. Although research suggests autism can be reliably diagnosed by age 2, the new analysis shows that fewer than half of children with autism are identified in their communities by age 5.

One challenge is that autism spectrum disorders are extremely diverse. According to the criteria outlined in the Diagnostic and Statistical Manual of Mental Disorders Fourth Edition — Text Revision (DSM-IV-TR), there are more than 600 different symptom combinations that meet the minimum criteria for diagnosing autistic disorder, one subtype of ASD.

Previous research on age at diagnosis has focused on external factors such as gender, socioeconomic status, and intellectual disability. Maenner and his colleagues instead looked at patterns of the 12 behavioral features used to diagnose autism according to the DSM-IV-TR.

He and Maureen Durkin, a UW-Madison professor of population health and pediatrics and Waisman Center investigator, studied records of 2,757 8-year- olds from 11 surveillance sites in the nationwide Autism and Developmental Disabilities Monitoring Network, run by the Centers for Disease Control and Prevention (CDC). They found significant associations between the presence of certain behavioral features and age at diagnosis.

“When it comes to the timing of autism identification, the symptoms actually matter quite a bit,” Maenner says.

In the study population, the median age at diagnosis (the age by which half the children were diagnosed) was 8.2 years for children with only seven of the listed behavioral features but dropped to just 3.8 years for children with all 12 of the symptoms.

The specific symptoms present also emerged as an important factor. Children with impairments in nonverbal communication, imaginary play, repetitive motor behaviors, and inflexibility in routines were more likely to be diagnosed at a younger age, while those with deficits in conversational ability, idiosyncratic speech and relating to peers were more likely to be diagnosed at a later age.

These patterns make a lot of sense, Maenner says, since they involve behaviors that may arise at different developmental times. The findings suggest that children who show fewer behavioral features or whose autism is characterized by symptoms typically identified at later ages may face more barriers to early diagnosis.

But they also indicate that more screening may not always lead to early diagnoses for everyone.

“Increasing the intensity of screening for autism might lead to identifying more children earlier, but it could also catch a lot of people at later ages who might not have otherwise been identified as having autism,” Maenner says.

//via University of Wisconsin-Madison

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Do Kids with Autism ‘Get’ Silly?

magic mirror

Photo by Rajesh Kumar

Finding reported in Current Biology on April 8 purport to be the first to show that the social nature of imitation is very important and challenging for children with autism (we’re not sure that’s true — see here and here). The finding also emphasize how important it is for most children to feel like they are acting like others.

When a child with autism copies the actions of an adult, he or she is likely to omit anything “silly” about what they’ve just seen, say the researchers. In contrast, typically developing children will go out of their way to repeat each and every element of the behavior even as they may realize that parts of it don’t make any sense.

“The data suggest that children with autism do things efficiently rather than socially, whereas typical children do things socially rather than efficiently,” says Antonia Hamilton of the University of Nottingham. “We find that typical children copy everything an adult does, whereas autistic children only do the actions they really need to do.”

That could seem to imply a greater grasp of…rationality?

The researchers made the “discovery” after testing 31 children with autism spectrum conditions and 30 typically developing children who were matched for verbal mental age.

Keep in mind, 31 is not a very large sample size.

On each of five trials, each child was asked to watch carefully as a demonstrator showed how to retrieve a toy from a box or build a simple object. Importantly, each demonstration included two necessary actions (e.g. unclipping and removing the box lid) and one unnecessary action (e.g. tapping the top of the box twice). The box was then reset behind a screen and handed to the child, who was instructed to “get or make the toy as fast as you can.” They were not specifically told to copy the behavior they’d just seen.

Almost all of the children successfully reached the goal of getting or making the toy, but typically developing children were much more likely to include the unnecessary step as they did so, a behavior known as overimitation. Those children copied 43 to 57 percent of the unnecessary actions, compared to 22 percent in the children with autism. That’s despite the fact that the children correctly identified the tapping action as “silly,” not “sensible.”

Hamilton says the researchers now want to know precisely what kind of actions children copy, and how that tendency to copy everything might contribute to human cultural transmission of knowledge. She says that parents and teachers should be aware of the social value in going beyond the successful completion of such tasks.

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Friday Flick: Seeing Beyond Disability: A new era. A new approach.

Our field is changing and the needs of the people we support are, as well. Get a glimpse of the future from YAI CEO Stephen Freeman, NYS OPWDD Commissioner Courtney Burke, Self-Advocates and IBM’s innovations guru Francoise LeGoues. Register for the conference here.

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New Initiative Provides Free Developmental Assessments for Children Most at Risk for Autism

Through the looking glass

via Flickr

Kennedy Krieger Institute announced on Monday a new, pilot initiative to help identify the red flags of autism spectrum disorders  in infant siblings of children with ASD as early as possible. Visit for more information.

Research studies have found that for families who have one child with ASD, the chance of a subsequent sibling developing the disorder is one in five. The goal of this new initiative is to put a national spotlight on children most at risk — infant siblings — and to bring support and awareness to those families already affected by the disorder.

“In terms of screening for early diagnosis, a predisposition to autism should not be treated differently than a predisposition to cancer or diabetes,” says Rebecca Landa, Ph.D., director, Center for Autism and Related Disorders at the Kennedy Krieger Institute. Beginning in April, Dr. Landa’s team will provide free developmental assessments for infants between ages five to 10 months who have an older sibling diagnosed with ASD and live within a Mid-Atlantic five-state region or the District of Columbia.

Landa says, “If your mother had breast cancer, then you know you should get tested earlier and more frequently than someone without an elevated risk. The same is true for autism. The tracking of developmental milestones is critical for all children, but babies who are at increased risk for autism need to be monitored earlier and more often than the current screening recommendations for infants and toddlers.”

While the overall incidence of autism is widely discussed, Kennedy Krieger is striving to educate families on siblings’ increased risk and empower them to seek out a developmental expert in their area armed with this information.

“We’ve launched this initiative to increase the likelihood of identifying children most at risk so that families can seek help sooner and not miss out on early intervention, which can improve lifelong learning, communication and social skills,” said Dr. Landa. “My hope is that our initiative encourages institutions and physicians across the country to provide this same type of support for families.”

While children typically receive a diagnosis of ASD between ages two to four, researchers are discovering that the earliest signs of ASD can be detected in infants as young as six to 14 months of age. The earlier ASD is detected, the more effective early intervention can be in the life of a child.

The free developmental assessments will take place at the nationally renowned Center for Autism and Related Disorders at Kennedy Krieger Institute in Baltimore, Maryland. Families living in Delaware, Maryland, Pennsylvania, Virginia, West Virginia and the District of Columbia are currently eligible.

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There Is No Such Thing as ‘Too Many’ Vaccines

Measles and Scarlet Fever


Although scientific evidence has found, over and over again, that vaccines do not cause autism, approximately one-third of parents continue to express concern that they do; nearly 1 in 10 parents refuse or delay vaccinations because they believe it is safer than following the Centers for Disease Control and Prevention’s schedule.

They believe that life-threatening diseases, such as measles and pertussis, are worth the risk. And that’s a big reason why these diseases, which should be unheard of in countries with widespread access to vaccines, are on the rise.

A primary concern is the number of vaccines administered, both on a single day and cumulatively over the first 2 years of life. In a new study scheduled for publication in The Journal of Pediatrics, researchers concluded that there is no association between receiving “too many vaccines too soon” and autism.

Dr. Frank DeStefano and colleagues from the CDC and Abt Associates, Inc. analyzed data from 256 children with autism spectrum disorder (ASD) and 752 children without ASD (born from 1994-1999) from 3 managed care organizations. They looked at each child’s cumulative exposure to antigens, the substances in vaccines that cause the body’s immune system to produce antibodies to fight disease, and the maximum number of antigens each child received in a single day of vaccination.

The researchers determined the total antigen numbers by adding the number of different antigens in all vaccines each child received in one day, as well as all vaccines each child received up to 2 years of age. The authors found that the total antigens from vaccines received by age 2 years, or the maximum number received on a single day, was the same between children with and without ASD. Furthermore, when comparing antigen numbers, no relationship was found when they evaluated the sub-categories of autistic disorder and ASD with regression.

Although the current routine childhood vaccine schedule contains more vaccines than the schedule in the late 1990s, the maximum number of antigens that a child could be exposed to by 2 years of age in 2013 is 315, compared with several thousand in the late 1990s. Because different types of vaccines contain varying amounts of antigens, this research acknowledged that merely counting the number of vaccines received does not adequately account for how different vaccines and vaccine combinations stimulate the immune system. For example, the older whole cell pertussis vaccine causes the production of about 3000 different antibodies, whereas the newer acellular pertussis vaccine causes the production of 6 or fewer different antibodies.

An infant’s immune system is capable of responding to a large amount of immunologic stimuli and, from time of birth, infants are exposed to hundreds of viruses and countless antigens outside of vaccination. According to the authors, “The possibility that immunological stimulation from vaccines during the first 1 or 2 years of life could be related to the development of ASD is not well-supported by what is known about the neurobiology of ASDs.” In 2004, a comprehensive review by the Institute of Medicine concluded that there is not a causal relationship between certain vaccine types and autism, and this study supports that conclusion.

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