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Shank synaptic genes in autism: Human genetics to mouse models and therapeutics

May 24, 2011 10 comments

This is a guest post by by Mehreen Kouser, a Dennis Weatherstone Fellow, and Ph.D. Candidate working with Dr. Craig Powell at the UT Southwestern.

This year IMFAR hosted a Scientific Panel titled “Shank synaptic genes in autism: Human genetics to mouse models and therapeutics” organized and chaired by Dr. Craig Powell. This panel consisted of four presentations starting with the unequivocal role of Shank3 in autism and ending with potential treatment strategies in genetically mutated mouse models of Shank3.

Over the past few years , Shank3 has emerged as the new “it” gene for autism. Current estimates suggest that Shank3 errors account for 0.5-2 % of autism diagnoses making it a major genetic cause of  autism. Several recent human studies have implicated mutations/deletions/duplications in the Shank family of proteins, especially Shank3, to be involved in ASD and 22q13 Deletion Syndrome.  Shank3 is a scaffolding protein that is involved in synapse architecture. Mutations in Shank3 are known to affect synaptic connections between neurons in similar ways to other autism-relevant genes such as neuroligin and neurexin. Thus understanding the role of Shank3 in autism is critical.

The first presenter at this panel was Dr. Catalina Betancur from INSERM in France. Dr. Betancur was a major player in the discovery of Shank3’s relevance to autism.  She carefully detailed all known human mutations, deletions, and duplications published since the first paper on Shank3 mutations in idiopathic autism was published in 2007.She also outlined the case for Shank3 as a major causative gene in the symptoms of the 22q13 chromosomal deletion syndrome known as Phelan-McDermid Syndrome.   In addition, Dr. Betancur detailed the work of her laboratory and others implicating Shank2, another member of the Shank gene family, in autism.

Dr. Joseph Buxbaum from Mount Sinai School of Medicine in New York was the next presenter. His laboratory was the first to publish a genetic mouse model of Shank3 successfully Shank3.  Their Shank3 mutant mouse closely mimics autism-associated mutations in this area of the Shank3 gene.  His work focused on the heterozygous mutation of Shank3 gene as this is the state of autism patients with Shank3 mutations. Characterization of this mouse model, clearly suggests that Shank3 plays an important role in synapse architecture, function, and plasticity. Among the most intriguing findings in his presentation was his ability to reverse the manifestations of Shank3 mutation in brain slices treated with Insulin-like Growth Factor-1 (IGF-1). This gives us the much needed hope that Shank3 mutation models of autism will lead to identification of novel therapeutic targets that can be validated in these models.

Next, Dr. Yong-hui Jiang from Duke University in North Carolina presented his work on a genetic mouse model very similar to that of Dr. Buxbaum’s group, but his focus was the homozygous mutation of Shank3 mutating both copies of the gene. He noted that the Shank3 gene is more complex than originally thought, with potentially having as many as six variants or isoforms. His careful analysis of this mutant model clarified that only a portion of Shank3 isoforms are affected by this genetic strategy.  He identified abnormalities in synaptic connection  morphology in his model.  Moreover, his lab characterized this mouse model extensively on autism related behaviors and found them to be impaired in the social behaviors, repetitive behaviors, communication, motor coordination and learning and memory. These results demonstrate that human diseases can be successfully modeled in mice. The hope is that if we can reverse them in mice, treatments for humans are not far away.

Dr. Joao Peca from Guoping Feng’s lab at MIT in Massachusetts concluded the session by presenting a completely different Shank3 mutation in mice.  He began his presentation by telling us about another synaptic gene called SAPAP3 and showing us its involvement in a repetitive grooming behavior in mice. He showed that SAPAP3 knockout mice continuously groom themselves and that this behavior can be reversed by putting this gene back into the striatum of mice later in life. He also showed that Shank3 is a strong binding partner of SAPAP3 and their Shank3 mutant mice have the same increase in repetitive grooming behaviors.   Like the other Shank3 mutations, this mutant does not affect all forms of Shank3, but may mimic a different human mutation.

This panel set the stage for future advances in the area of Shank3 and autism.  Only 4 years after the initial study implicating Shank3 in autism, we now have at least 3 different animal models and 4 publications on these models.  Although, we may face grave challenges in sorting through the heterogeneity of mutations, deletions, and duplications and their different consequences, these presenters clearly demonstrate that this strategy will lead to identification of potential therapeutic targets that can be readily tested in animal models.

Autism Speaks Co-Founders Bob and Suzanne Wright Receive Honorary Degrees at Saint Joseph’s University

May 24, 2011 3 comments

Autism Speaks Co-Founders Bob and Suzanne Wright received Honorary Degrees at Saint Joseph’s University (SJU) Commencement ceremonies on Saturday, May 14.   The Wrights were recognized for their professional accomplishments, particularly, the vision and leadership in founding and building Autism Speaks – North America’s largest autism science and advocacy organization. SJU awarded honorary degrees to Bob and Suzanne in recognition of their selfless dedication to, and for, others.

During their time on the SJU campus the Wrights visited the university’s new Kinney Center for Autism Education and Support.   The mission of the Center is to provide multi-disciplinary education and research opportunities for students, teachers, professionals, and parents who seek to improve and extend opportunities, outcomes, quality of life and best practices in treatment for people withAutism Spectrum Disorders (ASD). The Center offers services, resources, and information; support and guidance; and tools for public and individual advocacy that contributes to improved autism awareness and care.  Additionally, students who minor in autism education receive hands-on training at the facility.

Here are photos from the Kinney Center and the Graduation Exercises

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 To read the Wright’s 2011 St. Joseph’s University Commencement Address, please click here.

Autism TV… Sort of.

May 24, 2011 8 comments

I recently left my longtime career as a local TV news anchor in Baltimore.  I was there for 21 years and during that time my daughter was diagnosed with an Autism Spectrum Disorder (PDD-NOS).  So,  I thought…hey, wouldn’t it be a natural fit if I could take what I know about telling stories and create a   television show with kids who are all over the “spectrum.”  Programming  that shows children and families, from all walks of life, dealing with the challenges and uniqueness of autism.  And maybe we could give them some help or ideas along the way. And maybe we could educate a mass audience about what makes autism special and why we all should care about these individuals who are all around us.

Well, the big cable channels weren’t biting.  The production companies I contacted weren’t going for it either. I mean, in theory, they liked the idea, but in reality they just couldn’t see it being very appealing for the long haul. Of course, I find the subject incredibly appealing and compelling!

Eventually I thought why not do it myself?  With the help of a very talented videographer, a guy who knows his way around the web, and many supportive friends…we created Real Look Autism. My version of Autism TV.

Real Look Autism is a video resource for anyone touched by autism.  We tell focused and beautifully shot and edited stories about therapies and strategies that are working for children on the spectrum. We look for even the smallest measure of success. Our slogan goes like this: “You tell us something that’s working for you…and we’ll show everyone else”.  So, because we look for what is “working”, our short videos have an element of optimism. And how can you not LOVE these kids, their parents, and the teachers and therapists who are so committed.  We keep it real and we aim to spread some hope and understanding.

Real Look Autism.com, thanks for visiting and watching! We hope you LIKE US on Facebook, spread the word and sign up to find out when we premiere another new video.

And besides… we don’t even run commercials… at least not yet!

-Mary Beth Marsden, Founder of Real Look Autism

Autism in the News – 05.24.11

Developmental Disabilities on the Rise in U.S.
Autism and attention deficit hyperactivity disorder (ADHD) diagnoses are on the rise in the U.S., with one in six children now having these or other developmental disabilities, according to new figures from the CDC. Read more.

Study shows sharp rise in early autism diagnoses (USA Today)
More children aged 3 and younger are now being treated for autism in Massachusetts, a new study finds. One in 129 children in Massachusetts born between 2001 and 2005 was enrolled in early intervention programs for an autism spectrum disorder by their third birthday, according to the study. Read more.

Autism: a mother’s labour of love (UK)
Lorna Wing can recall the exact moment she realised that her daughter, Susie, was different. They were on a train, sitting opposite another mother and baby, also around six months old. The other child pointed at things through the window, glancing back at his mother to check her attention. It was, explains Wing, something that Susie never did. “A cold chill settled over me and I became very worried,” she says. Read more.

Autism Changes the Roll of Grandparents (Autism Keys)
A groundbreaking survey from the Interactive Autism Network (IAN) paints a picture of grandparents assuming a larger role in the lives of their grandchildren with autism. They are often the first to suspect that a child may have autism and once diagnosed they, have their own struggles in coming to terms with it. Some are resilient, while others confess to having a hard time moving through their grief. Read more.

Be wary of questionnaire intended to detect autism (Staten Island, N.Y.)
The Journal of Pediatrics has just released the results of a study that reports on the use of a screening questionnaire that is able to identify early signs of autism and other developmental disorders in children as young as 12 months of age. Read more.

 

Healthy Living

May 23, 2011 17 comments

Welcome to this installment of ‘Topic of the Week.’ These topics stem from submissions from our community. If there is anything in particular that you would like to see featured, please contact us!

Fitness, nutrition, and general health and hygiene are critical components of a full and happy life. Do you have a health and wellness plan? What types of fitness do you or or child engage in? How do you implement health and wellness in the day-to-day?

For more information on Healthy Living, please visit here.

Autism in the News – 05.23.11

Developmental disability on rise in U.S. kids: Why? (CBS News)
Developmental disability is on the rise in the U.S. Between 1997 and 2008, the number of school-age children diagnosed with autism, ADHD, or another developmental disability rose by about 17 percent, a new study showed. Read more.

15,000 Walk For Autism Awareness, Raise $500,000 (The Atlanta-Journal Constitution)
Autism Speaks and Marcus Autism Center held the 5th Annual Walk For Autism Speaks at the Georgia World Congress Center Sunday. The walk received 15,000 participants and raised $500,000 for the two organizations that are dedicated to autism awareness, advocacy, family resources and research. Read more.

‘What happens if I’m not around?’ mother of autistic teenager asks (Canada)
Janet Gan wonders who will care for her autistic son when the day comes that she can’t help him safely get across the street. Read more.

Thousands take steps to fight autism (Atlanta, Ga.)
The push for more research and awareness took a big step forward on Sunday with the 5th annual Georgia Walk Now for Autism Speaks. Read more.

Therapeutic horse riding program in Alexandria has new name, plans activities (Alexandria Township, N.J.)
Dreams Come True Therapeutic Riding program is now called Riding with HEART (RWH) and has many events planned. Read more.

Join a LIVE Facebook Chat with Our Family Services Department

May 23, 2011 4 comments

On Wednesday, May 25 at 3:30pm EST, our Family Services Department will be hosting a LIVE Chat! Visit our Facebook page and join in the conversation!

While we work to change the future for those who struggle with autism, the Family Services Team is committed to addressing the daily challenges people with autism, their families, and caregivers face today.

Living with autism is often accompanied by a profound sense of isolation and helplessness, for the individual with autism as well as the family. “It is important that families can connect with us, quickly get the information they need, and that they recognize the power of their own advocacy,” states Marianne Sullivan, Assistant Director of National Outreach and Resources.

The Family Services Team supports families by connecting them to resources and information, enabling them to make informed decisions. Information is a powerful tool; it can lead to dramatic improvement in the outcome and quality of life of an individual with autism.

Resources for all Ages
The Autism Speaks online Resource Guide is one of the largest databases of autism resources in the country with more than 36,000 entries and information from all over the United States. Searchable by state or by zip code, resources are organized into over 35 categories.

An online Resource Library provides a variety of autism related information and reference materials including books, blogs, catalogs, and tool kits as well as resources for Spanish-speaking families.

Age-Related Resources
Age-related resources are organized into three categories in the Family Services section of the Autism Speaks website: Diagnosis /Intervention (0-3), School Age/Youth (3-22) and Young Adult/Adult (22 years and older).
A family can quickly get to the information that is relevant to their loved one. We realize families are busy people, short on time, and want to put their finger on information that typically has to do with an individual’s age.

Autism Response Team (ART)
Families have the opportunity to contact the Autism Response Team (ART), who are specially trained to talk and email hundreds of families each month. An ART coordinator can be contacted through a toll-free number, 888-AUTISM2 (288-4762), or by email at familyservices@autismspeaks.org

Tool Kits are free and available to download online

100 Day Kit, available in English and Spanish, provides information for families whose child has recently been diagnosed with autism.
Asperger Syndrome/High-Functioning Autism Tool Kit is also available

School Community Tool Kit
provides information and resources for general education and administrative school staff to support a positive school experience for children with autism.

Talking to Parents about Autism: Action Kit
contains tools to help initiate the critical conversation with parents if someone suspects their child may be exhibiting early signs of autism.

Transition Tool Kit
serves as a guide to assist families on the journey from adolescence to adulthood.

To learn more about additional resources available to the autism community join us for a Live Chat on Wednesday, May 25th at 3:30 EST


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