TAG: "Autism"

Study: Dozens of genes associated with autism


Functions of newly identified genes converge on a few important biological processes.

Two major genetic studies of autism, led in part by UC San Francisco scientists and involving more than 50 laboratories worldwide, have newly implicated dozens of genes in the disorder. The research shows that rare mutations in these genes affect communication networks in the brain and compromise fundamental biological mechanisms that govern whether, when, and how genes are activated overall.

The two new studies, published in the advance online edition of Nature today (Oct. 29), tied mutations in more than 100 genes to autism. Sixty of these genes met a “high-confidence” threshold indicating that there is a greater than 90 percent chance that mutations in those genes contribute to autism risk.

The majority of the mutations identified in the new studies are de novo (Latin for “afresh”) mutations, meaning they are not present in unaffected parents’ genomes but arise spontaneously in a single sperm or egg cell just prior to conception of a child.

The genes implicated in the new studies fall into three broad classes: they are involved in the formation and function of synapses, which are sites of nerve-cell communication in the brain; they regulate, via a process called transcription, how the instructions in other genes are relayed to the protein-making machinery in cells; and they affect how DNA is wound up and packed into cells in a structure known as chromatin. Because modifications of chromatin structure are known to lead to changes in how genes are expressed, mutations that alter chromatin, like those that affect transcription, would be expected to affect the activity of many genes.

One of the new Nature studies made use of data from the Simons Simplex Collection (SSC), a permanent repository of DNA samples from nearly 3,000 families created by the Simons Foundation Autism Research Initiative. Each SSC family has one child affected with autism, parents unaffected by the disorder and, in a large proportion, unaffected siblings. The second study was conducted under the auspices of the Autism Sequencing Consortium (ASC), an initiative supported by the National Institute of Mental Health that allows scientists from around the world to collaborate on large genomic studies that couldn’t be done by individual labs.

“Before these studies, only 11 autism genes had been identified with high confidence, and we have now more than quadrupled that number,” said Stephan Sanders, Ph.D., assistant professor of psychiatry at UCSF, co-first author on the SSC study, and co-author on the ASC study. Based on recent trends, Sanders estimates that gene discovery will continue at a quickening pace, with as many as 1,000 genes ultimately associated with autism risk.

“There has been a lot of concern that 1,000 genes means 1,000 different treatments, but I think the news is much brighter than that,” said Matthew W. State, M.D., Ph.D., chair and Oberndorf Family Distinguished Professor in Psychiatry at UCSF. State was co-leader of the Nature study focusing on the SSC and a senior participant in the study organized by the ASC, of which he is a co-founder. ”There is already strong evidence that these mutations converge on a much smaller number key biological functions. We now need to focus on these points of convergence to begin to develop novel treatments.”

Autism, which is marked by deficits in social interaction and language development, as well as by repetitive behaviors and restricted interests, is known to have a strong genetic component. But until a few years ago, genomic research had failed to decisively associate individual genes with the disorder.

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Why are some people with autism hypersensitive to sound?


UC Riverside researchers embark on five-year NIH-funded project.

(From left) Khaleel Razak, Iryna Ethell and Devin Binder. The three researchers are leading a team that will study the mechanisms of auditory hypersensitivity in fragile X syndrome. (Photo by Lille Bose, UC Riverside)

Fragile X syndrome (FXS) is a genetic disorder in humans that causes social impairments and repetitive behaviors, and other behaviors on the autistic spectrum, as well as cognitive deficits. It is the most common inherited cause of intellectual disability and the most common cause of autism.

One aspect of FXS worthy of more research is auditory hypersensitivity – an increased sensitivity to sound through a negative emotional response, resulting in behaviors such as closing the ears with the hands or running away from the sound source. People with FXS also are slow to adapt to constant repetitious sounds in our environment. These hypersensitivity deficits may lead to higher-level auditory deficits such as those involving language.

UC Riverside has received a grant from the National Institutes of Health (NIH) to study the mechanisms of auditory hypersensitivity in FXS from molecules to circuits to therapies.

The five-year $8.7 million grant is awarded to UC Riverside and the University of Texas Southwestern (UTSW) Medical Center, Dallas. UCR will receive approximately $2.7 million of the grant over five years.

NIH recently awarded a total of $35 million to three different centers in the United States to study FXS, allowing the establishment of “Centers for Collaborative Research in FXS.” The UTSW-UCR collaboration is one of the three centers.

The UCR team is being led by Khaleel Razak, an associate professor of psychology; and the School of Medicine’s Iryna Ethell, a professor of biomedical sciences, and Devin Binder, an associate professor of biomedical sciences. The team came together for the project through a collaborative seed grant provided by the Office of Research and Economic Development at UCR and a pilot grant from the FRAXA Research Foundation.

FXS affects 1 in 4,000 boys and is half as prevalent in girls. Symptoms include social and communication deficits, seizures, delayed language development and sensory hypersensitivity.  Despite the prevalence of FXS and the known genetic cause, a cure is yet to be discovered.

“Two recent clinical trials of drugs were suspended because the drugs performed similar to the placebo on outcome measures,” Razak said. “There is, therefore, an urgent need to develop new therapeutic targets and appropriate biomarkers and outcome measures in which the underlying neural mechanism is known at multiple levels of analyses.”

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Moms of kids with autism less likely to take iron supplements while pregnant


First study to examine relationship between maternal iron intake, having a child with autism.

Mothers of children with autism are significantly less likely to report taking iron supplements before and during their pregnancies than the mothers of children who are developing normally, a study by researchers with the UC Davis MIND Institute has found.

Low iron intake was associated with a fivefold greater risk of autism in the child if the mother was 35 or older at the time of the child’s birth or if she suffered from metabolic conditions such as obesity hypertension or diabetes.

The research is the first to examine the relationship between maternal iron intake and having a child with autism spectrum disorder, the authors said. The study, “Maternal intake of supplemental iron and risk for autism spectrum disorders,” is published online in the American Journal of Epidemiology.

Rebecca Schmidt, UC Davis

“The association between lower maternal iron intake and increased ASD risk was strongest during breastfeeding, after adjustment for folic acid intake,” said Rebecca J. Schmidt, assistant professor in the Department of Public Health Sciences and a researcher affiliated with the MIND Institute.

The authors of the current study in 2011 were the first to report associations between supplemental folic acid and reduced risk for autism spectrum disorder, a finding later replicated in larger scale investigations.

“Further, the risk associated with low maternal iron intake was much greater when the mother was also older and had metabolic conditions during her pregnancy.”

The study was conducted in mother-child pairs enrolled in the Northern California-based Childhood Autism Risks from Genetics and the Environment (CHARGE) Study between 2002 and 2009. The participants included mothers of children with autism and mothers of children with typical development.

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Autism early-detection program expands


Developed at UC San Diego, effort seeks to identify at-risk toddlers by first birthday.

Karen Pierce, UC San Diego

Autism spectrum disorder (ASD) is now estimated to impact 1 in every 68 children born in the United States. Yet despite its rising prevalence and the known benefits of early detection and treatment, toddlers in much of the United States are routinely not identified as possibly having ASD until well after their third birthday.

“By that time, much precious brain development has already occurred,” said Karen Pierce, Ph.D., associate professor of neurosciences at the UC San Diego School of Medicine and assistant director of the UC San Diego Autism Center of Excellence.

A new 5-year, $5.1 million grant from the National Institute of Mental Health (NIMH) seeks to remedy that by expanding a program developed by Pierce and colleagues to reduce the mean age of ASD diagnosis in multiple cities across the U.S.

The program, called Get SET Early, is based upon a one-year well-baby check that Pierce first described in a paper published in 2011. In those findings, Pierce and colleagues reported that San Diego toddlers who were systematically assessed for ASD around their first birthday typically began receiving treatment within a few months, years before children in many other cities.

With NIMH funding, the Get SET Early program expands upon Pierce’s original model, adding new features and technologies, such as an iPad-based automatic referral system.

The improved model consists of three stages: In the Screening stage, a network of pediatricians conduct repeat evaluations of toddlers at multiple ages – 12, 18 and 24 months – using standardized testing and scoring. “Since the symptoms of autism can come on slowly between 12 and 24 months, if we screen three times, we are almost guaranteed to detect the overwhelming majority of children with this disorder,” Pierce said.

In the second Evaluation stage, toddlers who may have ASD are immediately referred to local clinics that specialize in ASD for more detailed evaluation.

In the final stage, Treatment, toddlers showing clear signs of ASD are referred to an established network of health care specialists for rapid treatment. “There is evidence that early therapy can have a positive impact on the developing brain,” Pierce said. “The opportunity to diagnose and thus begin treatment for autism around a child’s first birthday has enormous potential to change outcomes for children affected with the disorder.”

The Get SET Early program will expand first to Phoenix, which has one of the oldest average ages of ASD detection in the country. A recent survey conducted by the U.S. Centers for Disease Control found that children with autism living in Phoenix were typically not identified until they were almost 5 years old.

In her 2011 study, published in the Journal of Pediatrics, Pierce and colleagues created a network of 137 pediatricians in the San Diego region and asked them to include a brief assessment at the toddlers’ traditional one-year health checkup. The assessment consisted of parents or caregivers answering a questionnaire called the Communication and Symbolic Behavior Scales Developmental Profile Infant-Toddler Checklist that queried about a child’s use of eye contact, sounds, words, gestures, object recognition and other forms of age-appropriate communication. Any infant who failed the screening was referred to the UC San Diego Autism Center of Excellence for further testing and re-evaluation every six months until age three.

While the NIMH grant will initially test the feasibility of establishing the Get SET Early model in Phoenix, research and testing will also continue in San Diego to assess the efficacy of new improvements, such as repeat triple screenings and Internet-based tracking of referrals and treatment.

“By creating a simple screening, evaluation and treatment initiation and tracking model, we hope to establish national standards so that one day ASD detection and treatment between the first and second birthday will happen for all children,” said Pierce.

Funding for this work comes from the National Institutes of Health and NIMH (grant R01 MH104446-01).

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UC Irvine autism center names executive director


Catherine Brock to spearhead efforts to bring help and hope to patients and families.

Catherine Brock, UC Irvine (Photo by Steve Zylius, UC Irvine)

Catherine M. Brock, a highly regarded clinical and administrative leader in the field of autism spectrum disorders, will become executive director of The Center for Autism & Neurodevelopmental Disorders as of Sept. 15.

Brock will be responsible for overall management of the center, and she’ll focus on positioning it as a center of excellence in the U.S. for clinical care, community engagement and research.

The center is a collaboration of the UC Irvine School of Medicine, CHOC Children’s Hospital, Chapman University’s College of Educational Studies, the Children & Families Commission of Orange County, and the William & Nancy Thompson Family Foundation.

Utilizing an innovative and integrated approach, the center provides assessment, diagnosis, treatment, care coordination, family support and education for children, teens and young adults with autism and other developmental disorders. It’s one of only a few centers in the region to deliver a continuum of support and services until age 22 and to conduct research focused on transforming autism care and treatment.

“I have a clear mission to spearhead The Center for Autism’s efforts to provide help and hope to individuals and families living with autism and neurodevelopmental disorders,” Brock said. “The center comprises world-class clinicians, researchers and practitioners who are completely dedicated to having a meaningful impact on the lives of those here in the community whom we serve, and I am honored to partner with my new colleagues to lead our efforts forward.”

Brock has 20 years of experience in operations and with the treatment of autism. She most recently was associate director of the University of Washington Autism Center, where her responsibilities included operations, administration and clinical leadership. With a master’s degree in clinical psychology from Antioch University Seattle and more than a decade in practice as a licensed mental health counselor, Brock has deep knowledge of autism and possesses the understanding and expertise necessary to forge strong relationships with patients and their families.

“Cathy is a seasoned, highly talented and passionate professional who will be a catalyst and create synergies among the five founding partner organizations and our affiliated UCI research group, the Center for Autism Research & Translation,” said Don Cardinal, chair of the center’s advisory board. “She has an ideal combination of skills, experience and expertise in autism to drive our efforts forward, and our community will be well served by her leadership.”

The center is at 2500 Red Hill Ave. in Santa Ana.

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Treating babies for autism may stave off symptoms


Infant Start therapy treats disabling delays before most kids are diagnosed with autism.

Sally Rogers, UC Davis

Treatment at the earliest age when symptoms of autism spectrum disorder (ASD) appear – sometimes in infants as young as 6 months old – significantly reduces symptoms so that, by age 3, most who received the therapy had neither ASD nor developmental delay, a UC Davis MIND Institute research study has found.

The treatment, known as Infant Start, was administered over a six-month period to 6- to 15-month-old infants who exhibited marked autism symptoms, such as decreased eye contact, social interest or engagement, repetitive movement patterns and a lack of intentional communication. It was delivered by the people who were most in tune with and spent the most time with the babies: their parents.

“Autism treatment in the first year of life: A pilot study of Infant Start, a parent-implemented intervention for symptomatic infants,” is co-authored by UC Davis professors of Psychiatry and Behavioral Sciences Sally J. Rogers and Sally Ozonoff. It is published online today (Sept. 9) in the Journal of Autism and Developmental Disorders.

“Most of the children in the study, six out of seven, caught up in all of their learning skills and their language by the time they were 2 to 3,” said Rogers, the study’s lead author and the developer of the Infant Start therapy. “Most children with ASD are barely even getting diagnosed by then.”

“For the children who are achieving typical developmental rates, we are essentially ameliorating their developmental delays,” Rogers said. “We have speeded up their developmental rates and profiles, not for every child in our sample, but for six of the seven.”

Rogers credited the parents in the small, pilot study with making the difference.

“It was the parents – not therapists – who did that,” she said. “Parents are there every day with their babies. It’s the little moments of diapering, feeding, playing on the floor, going for a walk, being on a swing, that are the critical learning moments for babies. Those moments are what parents can capitalize on in a way that nobody else really can.”

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UC Davis researchers launch study examining autism in girls


Little is known about biological differences between boys and girls with autism.

Little is known about autism in girls.

Autism is far more common in boys than girls – affecting 1 in 54 boys and 1 in 252 girls — but little is known about biological differences between boys and girls with autism. A new study, called the ‘Girls with Autism — Imaging of Neurodevelopment’ or GAIN Study, led by researchers at the UC Davis MIND Institute will explore those differences in very young girls with autism.

“We know that the incidence of autism is much lower in girls than it is in boys. But we don’t know much about why that is, and what those differences are,” said Christine Wu Nordahl, assistant professor of psychiatry and behavioral sciences and principal investigator for the study. “Because autism so much more common in boys, girls are often understudied, and we haven’t had the chance to evaluate them in depth.”

To investigate the differences between autism in boys and autism in girls, MIND Institute researchers are seeking very young girls with autism — between the ages of 2 and 3.5 years old — who are recently diagnosed with autism. The researchers also are enrolling girls in the same age range who are developing typically.

Study participants will be followed for two years and will receive magnetic resonance imaging (MRI) scans and other tests, to help researchers identify differences in brain structure and connectivity between boys and girls with autism.

“A comprehensive understanding of the female phenotype of autism spectrum disorder is a pressing and timely topic, as indicated by national efforts to direct research towards this goal,” Wu Nordahl said.

For further information about the research or to inquire about enrolling a child in the study, please contact Michelle Huynh, study coordinator, at (916) 703-0410, or michelle.huynh@ucdmc.ucdavis.edu.

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UC autism summit offers hope for help


First step toward collaborating systemwide to address need for treatments.

Leonard Abbeduto, director of the UC Davis MIND Institute, speaks at the UC summit on autism in Sacramento. (Photo by UC Davis)

By Alec Rosenberg

Researchers from across the University of California convened Thursday (Aug. 14) for a first-ever summit on autism — an initial step toward collaborating systemwide to address the urgent need for treatments.

Epidemiologists and geneticists joined neuroscientists and psychiatrists as more than 50 researchers from five UC campuses participated in the daylong summit at the UC Davis MIND Institute in Sacramento. They shared what they are doing in autism research and discussed ways to increase coordination and have a greater impact in improving the lives of children with autism and their families.

Autism spectrum disorder is one of health’s toughest challenges — a lifelong developmental condition with varying symptoms and severity that can affect social interactions, behavior and the ability to think, learn and problem solve. It has no single known cause and no known cure, though early behavioral-based treatments can help. And its prevalence is rising rapidly: Estimates are that autism affects more than 3 million individuals in the U.S., increasing the need for breakthroughs.

“How can we provide high-quality care for kids when the numbers are increasing dramatically and the resources are not?” said Leonard Abbeduto, Tsakopoulos-Vismara Endowed Chair and director of the UC Davis MIND Institute. “We’re all here because we want to impact the lives of kids and families.”

The autism summit, sponsored by the UC Office of the President, is the first step in an 18-month process aimed at accelerating progress toward treatments and strategies for prevention. The effort will include drafting a strategic plan for a coordinated approach to UC autism research, identifying research opportunities, increasing the number of multicampus grants and launching a series of public statewide autism forums to discuss ways of translating research into improved services.

“These are ambitious goals, but this is the group to make it happen,” Abbeduto said.

Harnessing UC’s expertise

The campuses participating in the summit — Davis, Irvine, UCLA, San Diego and San Francisco — are those with interdisciplinary autism research programs, integrated health care systems and programs that train pediatric health care professionals. Other UC campuses will participate in follow-up meetings.

The summit arose from discussions within the systemwide UC BRAID (Biomedical Research Acceleration, Integration and Development), which identified autism as an area of expertise that was ripe for increased coordination.

“This is really the beginning,” said Dan Cooper, chair of the Department of Pediatrics and director of the Institute for Clinical and Translational Science at UC Irvine. “The summit is designed to harness the unique basic science and translational research talent across the UC system in a way that will profoundly benefit children and adults with autism and related disorders.”

As one of the world’s largest and most prestigious research institutions, UC is uniquely positioned to address the mysteries surrounding autism.

“If we combine and band together, the promise is tremendous,” said Elysa Marco, a cognitive and behavioral child neurologist at UC San Francisco. “I think this represents a wonderful opportunity for us to do something greater.”

A timely collaboration

Thomas Insel, director of the National Institute of Mental Health, who delivered a summit presentation by videoconference, encouraged UC’s efforts, which he said could be a model at the statewide level.

“If you can get a group of people across the state sharing things, that’s a great way to accelerate our understanding and development of treatments,” said neurologist Jeffrey Neul of UC San Diego.

Autism is considered a public health crisis, with an incidence that has increased by more than 600 percent during the past two decades. The U.S. Centers for Disease Control and Prevention estimates that autism now affects 1 in 68 children. More than 350,000 Californians live with autism today.

Los Angeles Unified School District alone has 10,000 students with autism, said James McCracken, the Joseph Campbell Professor of Child Psychiatry and director of the Division of Child and Adolescent Psychiatry at UCLA. He’s optimistic that the UC autism summit will lead to positive outcomes.

“It’s an exciting first step,” McCracken said.

Making an impact

At the summit, researchers split into six working groups aimed at tackling different aspects of autism: genetic risk factors; environmental risk factors; neurobiology; diagnosis, symptoms and developmental trajectories; treatment, pharmacology and services; and research infrastructure.

They identified opportunities for collaboration such as multicampus research projects, hosting workshops to share data and provide training, and developing a systemwide autism patient registry and research repository. They encouraged using the UC ReX (Research eXchange) Data Explorer, a UC BRAID effort that enables UC investigators to identify potential research study cohorts at the five UC medical centers. Several mentioned that offering incentives would spur broader collaborations.

Ultimately, UC summit participants want to help prevent autism and speed treatments and cures. They’re working on many fronts, from behavior to medications to stem cells.

UC Davis MIND Institute researcher Sally Rogers helped develop the Early Start Denver Model, an intensive early intervention therapy for children with autism that fuses play- and relationship-based approaches with teaching practices of applied behavior analysis (a model developed at UCLA).

The Early Start Denver Model is being used around the world. Last week, Rogers trained a group that included participants from Brazil, Canada, Mexico, Spain and Turkey. She wants to have an even bigger impact and sees potential in a universitywide autism collaboration.

“It’s about trying to enhance the quality of life,” Rogers said.

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UC hosting statewide autism summit


UC researchers collaborate across system to address urgent need for treatments.

Bringing together the research prowess of the University of California to address the increase in autism incidence, its public health impacts, and the need to speed the development of treatments for affected individuals and their families, internationally respected scientists from UC campuses at Irvine, Los Angeles, San Diego, San Francisco and Davis will converge at the UC Davis MIND Institute for a daylong summit on innovative translational neurodevelopmental research.

An initiative of the UC Office of the President, the University of California Summit on Translational Research in Autism Spectrum Disorders will be held Thursday (Aug. 14) from 8 a.m. to 5 p.m. at the UC Davis MIND Institute, 2825 50th St., Sacramento. The summit will include a presentation via video conference on “Pressing Issues for a Translational Science of Autism Spectrum Disorder” by Thomas Insel, director of the National Institute of Mental Health (NIMH). Participation in the summit is by invitation only.

“The increase in autism spectrum disorder cases has exceeded the capacity of public and private organizations to provide effective health care, education and treatment to affected families,” said Leonard Abbeduto, Vismara-Tsakopoulos Endowed Chair and director of the MIND Institute.

“We must develop new, more effective strategies for treatment and prevention that are informed by a deeper understanding of the etiology, mechanisms and manifestations of the disorder.”

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Kids with autism, SPD show brain wiring differences


UCSF study builds on its research showing kids with SPD have measurable brain differences.

Pratik Mukherjee, UC San Francisco

Researchers at UC San Francisco have found that children with sensory processing disorders have decreased structural brain connections in specific sensory regions different than those in autism, further establishing SPD as a clinically important neurodevelopmental disorder.

The research, published in the journal PLOS ONE, is the first study to compare structural connectivity in the brains of children with an autism diagnosis versus those with an SPD diagnosis, and with a group of typically developing boys. This new research follows UCSF’s groundbreaking study published in 2013 that was the first to find that boys affected with SPD have quantifiable regional differences in brain structure when compared to typically developing boys. This work showed a biological basis for the disease but prompted the question of how these differences compared with other neurodevelopmental disorders.

“With more than 1 percent of children in the U.S. diagnosed with an autism spectrum disorder, and reports of 5 to 16 percent of children having sensory processing difficulties, it’s essential we define the neural underpinnings of these conditions, and identify the areas they overlap and where they are very distinct,” said senior author Pratik Mukherjee, M.D., Ph.D., a professor of radiology and biomedical imaging and bioengineering at UCSF.

SPD can be hard to pinpoint, as more than 90 percent of children with autism also are reported to have atypical sensory behaviors, and SPD has not been listed in the Diagnostic and Statistical Manual used by psychiatrists and psychologists.

Elysa Marco, UC San Francisco

“One of the most striking new findings is that the children with SPD show even greater brain disconnection than the kids with a full autism diagnosis in some sensory-based tracts,” said Elysa Marco, M.D., cognitive and behavioral child neurologist at UCSF Benioff Children’s Hospital San Francisco and the study’s corresponding author. “However, the children with autism, but not those with SPD, showed impairment in brain connections essential to the processing of facial emotion and memory.”

Children with SPD struggle with how to process stimulation, which can cause a wide range of symptoms including hypersensitivity to sound, sight and touch, poor fine motor skills and easy distractibility. Some SPD children cannot tolerate the sound of a vacuum, while others can’t hold a pencil or struggle with emotional regulation. Furthermore, a sound that is an irritant one day can be tolerated the next. The disease can be baffling for parents and has been a source of much controversy for clinicians who debate whether it constitutes its own disorder, according to the researchers.

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Study links autistic behaviors to enzyme


Deleting the enzyme favorably impacts behaviors associated with fragile X syndrome.

Iryna Ethell, UC Riverside (Photo by L. Duka)

Fragile X syndrome (FXS) is a genetic disorder that causes obsessive-compulsive and repetitive behaviors, and other behaviors on the autistic spectrum, as well as cognitive deficits. It is the most common inherited cause of mental impairment and the most common cause of autism.

Now biomedical scientists at UC Riverside have published a study that sheds light on the cause of autistic behaviors in FXS. Appearing online today (July 23) in the Journal of Neuroscience, and highlighted also on the cover in this week’s print issue of the journal, the study describes how MMP-9, an enzyme, plays a critical role in the development of autistic behaviors and synapse irregularities, with potential implications for other autistic spectrum disorders.

MMP-9 is produced by brain cells. Inactive, it is secreted into the spaces between cells of the brain, where it awaits activation. Normal brains have quite a bit of inactive MMP-9, and the activation of small amounts has significant effects on the connections between neurons, called synapses. Too much MMP-9 activity causes synapses in the brain to become unstable, leading to functional deficits.

“Our study targets MMP-9 as a potential therapeutic target in fragile X and shows that genetic deletion of MMP-9 favorably impacts key aspects of FXS-associated anatomical alterations and behaviors in a mouse model of fragile X,” said Iryna Ethell, a professor of biomedical sciences in the UC Riverside School of Medicine, who co-led the study. “We found that too much MMP-9 activity causes synapses to become unstable, which leads to functional deficits that depend on where in the brain that occurs.”

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Personalized approach enhances communications skills in children with autism


Computer tablets play key role in the blended therapy, UCLA-led study finds.

Connie Kasari, UCLA

A UCLA-led study has found that the communication skills of minimally verbal children with autism can be greatly improved through personalized interventions that are combined with the use of computer tablets.

The three-year study examined different approaches to improving communication abilities among children with autism spectrum disorder and minimal verbal skills. Approximately 30 percent of children with ASD overall remain minimally verbal even after years of intervention.

UCLA professor Connie Kasari, the paper’s senior author, worked with researchers at Vanderbilt University and the Kennedy Krieger Institute. They found that children’s language skills greatly improved when spoken- and social-communication therapy was tailored based on their individual progress and delivered using computer tablets.

The trial involved 61 children with ASD, ages 5 to 8. For six months, each child received communication therapy focusing on social communication gestures, such as pointing, as well as play skills and spoken language.

Half of the children were randomly selected to also use speech-generating applications on computer tablets for at least half of the time during their sessions. The tablets were programmed with audio clips of words the children were learning about during their therapy sessions and images of the corresponding objects. Working with a therapist, the child could tap a picture of a block, for example, and the tablet would play audio of the word “block.”

The researchers found that children who had access to the tablets during therapy were more likely to use language spontaneously and socially than the children who received the communication intervention alone — and that incorporating the tablets at the beginning of the treatment was more effective than introducing it later in the therapy.

“It was remarkable how well the tablet worked in providing access to communication for these children,” said Kasari, professor of human development and psychology in the UCLA Graduate School of Education and professor of psychiatry at UCLA’s Semel Institute for Neuroscience and Human Behavior. “Children who received the behavioral intervention along with the tablet to support their communication attempts made much faster progress in learning to communicate, and especially in using spoken language.”

Researchers also conducted follow-up visits with the children three months after the initial study period and found that their improvement had been maintained during that time.

The study was the first ASD research to use a sequential multiple assignment randomized trial, or SMART, design. The approach, which enables researchers to tailor interventions according to how each child in the study responds, was designed by Daniel Almirall and Susan Murphy, biostatisticians at the University of Michigan who were members of the research team. It also was the first randomized, controlled trial on this underserved population of children to use a computer tablet combined with an effective behavioral intervention.

Other study authors were Rebecca Landa of Kennedy Krieger and Johns Hopkins University, and Ann Kaiser of Vanderbilt. The study was funded by a High Risk High Impact grant from the Autism Speaks Foundation.

The findings were published in the June issue of the Journal of the American Academy of Child and Adolescent Psychiatry.

Based on this study, Kasari, who also is a member of UCLA’s Center for Autism Research and Treatment, received a $13 million grant from the National Institutes of Health’s Autism Centers of Excellence to fund continued research involving minimally verbal children.

The ACE Network–funded research, which is now under way, compares two types of intensive, daily instruction for children who attend schools in underserved communities and have an autism spectrum disorder and minimal communication abilities. The study also uses a SMART design and computer tablets. Researchers on the five-year network study are enrolling nearly 200 children at UCLA, Weill Cornell Medical Center in New York City, the University of Rochester and Vanderbilt University in Nashville.

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