The Abrahams lab works to understand the “whys” and “hows” in the Autism Spectrum Disorders and to use these insights to achieve better patient outcomes. Dr. Abrahams has identified DNA variants that increase risk for disease and discovered how some of these impact brain structure and function. Ongoing work is poised to take these insights back to the clinic and improve quality of life for patients and families.

All of the work that they accomplish begins and ends in the clinic. The Abrahams team is always actively recruiting patients (and family members) to participate in genetic studies. If you are interested in being part of their study, you can contact them directly for more information.

Widely sought by instititutions nationwide, he chose to come to Einstein and now he is choosing to speak at ICare4Autism’s upcoming August Conference Autism: A Global Perspective. This is the second time that we have invited Dr. Abrahams to speak after the rave reviews of his last speaking engagement at our Jun 6^th conference in 2011.

Dr. Abrahams speaks from a history of personal patient interaction and detailed experiments with a protein called Cntnap2. He writes that, “convergent lines of evidence support involvement of Contactin Associated Protein-Like 2 (CNTNAP2), a Neurexin family member, in the ASDs and related disorders of cognition.” The Abrahams lab explores the biological mechanisms by which mutations in CNTNAP2 may cause disease. They characterized animals in which the murine homolog is deleted.

Cntnap2 KO mice were found to have behavioral abnormalities reminiscent of core deficits observed in patients. Mutant mice were also seen to be hyperactive and show spontaneous epileptic seizures, both primary reactions in autistic patients. Treatment with the FDA approved drug risperidone alleviated a subset of behaviors in mutant mice. Dr. Abrahams will discuss further possible treatments and elaborate on the numerous successes that his team has encountered at Einstein.

Dr. Hollander will be speaking at the upcoming ICare4Autism International Autism Conference on the Neuropsychopharmacology of Oxytocin and Inflammation in ASD.  He is also receiving Global Autism Research Award for his breakthrough research in autism treatment at the ICare4Autism Fundraising Gala on Thursday, 7th of June, 2012.

The research, which included 37 high-functioning adults with, mainly diagnosed with Asperger’s syndrome, followed participants for 12 weeks. Taking fluoxetine doubled the chances that a patient would show overall improvement, measured by their clinicians. Half of the participants taking fluoxetine had significant reductions in obsessive-compulsive symptoms, compared with 8% taking placebo.

“Repetitive behavior is a core symptom of the illness,” says lead author Dr. Eric Hollander, medical director of the Autism and Obsessive-Compulsive Spectrum Program at Montefiore Medical Center in New York, explaining that “from a very early age, these children have rituals and routines. For example, they like to line up their toys and they get very bent out of shape if there is any deviation.”

A previous, larger study of a similar medication, citalopram, in children with autism did not find a reduction in repetitive behaviors, but the drug did reduce irritability and was superior to placebo among children who had the highest levels of irritability. Irritability can sometimes lead to repetitive behaviors because people wit autism often engage in these activities to self soothe.

Both fluoxetine and citalopram belong to a class of antidepressants known as selective serotonin reuptake inhibitors, or SSRIs. Prior research on SSRIs in people with autism has also looked at fluvoxamine and found a reduction in repetitive behavior in adults but not children. It is not known if the differences between these studies are due to differences between the medications or other factors.

Obsessive behaviors may also arise in people with autism in response to the stress or discomfort of unpredictable situations. “Many of these individuals have expectations for what’s going to happen, and if there is an unexpected deviation, they experience a lot of discomfort and then they do all these kinds of behaviors,” says Hollander. That’s why people with autism may obsessively avoid locations where they previously experienced discomfort, for example, or they may engage in a repetitive habit like washing, checking, counting, touching or tapping.

When taking fluoxetine, Hollander says, “Patients acknowledge experiencing less discomfort. They’re more able to go outside their comfort zone and to better resist their habits and rituals.” One participant in Hollander’s study was previously too anxious to take the subway or eat in a restaurant, but, when taking fluoxetine, was able to tolerate these unpredictable environments.

Hollander notes that the findings were statistically significant and clinically meaningful. “The clinicians could tell that people were doing better not only in terms of OCD symptoms but overall distress and ability to function.”

Read more: http://healthland.time.com/2011/12/05/prozac-may-reduce-symptoms-of-autism-in-adults/#ixzz1toOkty7N

Jeremy Veenstra-VanderWeele (left) and Randy Blakely pose at the entrance to the Vanderbilt Laboratory for Neurobehavior, where their studies in mice have revealed a clue to autism.

Vanderbilt University researchers are using mice to explore how altered brain serotonin levels during development may produce long-lasting changes in behavior and impact the risk for autism.

Serotonin is known for giving a sense of well-being and happiness. It is a neurotransmitter, a chemical that acts like a radio tower in the brain conveying signals among cells called neurons.

An earlier study at the Graduate School of Biomedical Sciences explored the role that serotonin plays in autism spectrum disorders. Dr. Georgianna Gould and colleagues showed that a medication called buspirone improved the social behaviors of mice.  Some genetic variations result in diminished transmission of serotonin between neurons. Buspirone increased transmission by partially mimicking the effects of serotonin at cellular sites called receptors.

The supply of serotonin is regulated by the serotonin transporter (SERT). In 2005, a team of Vanderbilt researchers led by Randy Blakely and James Sutcliffe identified rare genetic variations in children with ASD that disrupt SERT function.

In a new study published this week the researchers detail the creation of a mouse model with a small biochemical change that appears to cause SERT in the brain to go into overdrive and restrict the availability of serotonin at synapses.

“The SERT protein in the brain of our mice appears to exhibit the exaggerated function and lack of regulation we saw using cell models,” said Blakely, director of the Vanderbilt Silvio O. Conte Center for Neuroscience Research.

“Remarkably, these mice show changes in social behavior and communication from early life that may parallel aspects of ASD,” noted first author Jeremy Veenstra-VanderWeele, assistant professor of psychiatry, pediatrics and pharmacology.

The researchers conclude that a lack of serotonin during development may lead to long-standing changes in the way the brain is wired.

In 1961, Schain and Freedman reported that about 40% of children with autism are born with high circulating blood levels of serotonin. This finding has been repeated many times by other researchers.  Despite around 600 published research papers looking at autism and serotonin, researchers have been largely puzzled by this – until now.

In the current study, Veenstra-VanderWeele, Blakely and their colleagues showed that they could produce elevated blood levels of serotonin, “hyperserotonemia.” in mice that express a variant of a human SERT gene associated with autism.

Because the genetic change makes the transporter more active, higher levels of serotonin accumulate in platelets and therefore in the bloodstream. In the brain, overactive transporters should have the opposite effect — lowering serotonin levels at the synapse and producing behavioral changes relevant to autism. That’s exactly what the researchers observed.

This is one more potential factor in understanding the causes of autism. Experts believe the wide spectrum of autistic behaviors represents a complex web of interactions between many genes and environmental factors.

Microglial Cell

One out of about every 10,000 girls is born with a mutation that causes autism-like behavior, stunts growth, and impairs the ability to think, sleep, and even breathe. There is no cure for the condition, known as Rett syndrome, but a new study of mice proposes that bone marrow transplants that increase a certain type of immune cell in the brain can lessen some symptoms. Researchers say the findings may be an important clue to the mechanisms of the disease, but they caution that much more work is needed to identify the treatment potential.

Rett syndrome results from mutations in a gene on the X chromosome called MECP2, which regulates the activity of other genes. Researchers replaced the mice’s immune systems by first exposing four-week-old mice to radiation to kill off their existing immune cells — including microglia — and then injecting them with bone-marrow cells with a working copy of MECP2. Stem cells in bone marrow form the immune system, including microglia cells.

Male Rett mice, with no working copy of MECP2, usually die within two months, but the ones that got bone marrow from healthy mice lived up to a year, Jonathan Kipnis, a neuroscientist at the University of Virginia School of Medicine in Charlottesville, who led the study says. The treated mice breathed easier, walked better and gained more weight compared with untreated mice. Female mice with just one working copy of MECP2 develop Rett symptoms later than male mice, but a bone-marrow transplant improved gait, breathing and weight gain for them, too.

The oldest of the treated mice has now lived almost a year, neuroimmunologists Noël Derecki who also worked on the study says. “This seems to stop the disease in its tracks.”

“If we show the immune system is playing a very important role in Rett patients and we could replace it in a safe way, we may develop some feasible therapies in the future,” says Kipnis.

Kipnis hypothesizes that microglia from Rett mice have trouble clearing cellular rubbish in the brain, making it more difficult for their neurons to work properly. Fixing MECP2 mutations with gene therapy is well beyond current technology, Kipnis notes. “But if we can improve the environment by adding microglia, which is feasible, we may be able to attenuate some aspects of the disease.” He’s not advocating clinical trials anytime soon, though. Although bone marrow transplants are already performed on children with leukemia and other cancers, the procedure carries a high risk of serious, and even fatal, side effects.

Less drastically, Kipnis thinks that the disease could also be treated with drugs that improve microglia function. Girls with Rett syndrome have one working copy of MECP2, so half of their microglia may work.

Frauke Zipp, a neuro-immunologist at the Johannes Gutenberg University Mainz in Germany, agrees that a clinical trial of cell transplantation to treat Rett syndrome is far afield, but not inconceivable if additional research pins down their role in disease.

“These findings contribute to the idea that Rett syndrome is a very complicated disorder involving multiple cell types and systems,” adds Gail Mandel, a neuroscientist at Oregon Health Sciences University near Portland. Some form of gene therapy may be a way of fixing all these different problems, she says.

Berg Pharma, a molecular diagnostics company, has been working on a new approach to understanding autism and identifying novel biomarkers for diagnosis.

The unveiled study conducted by Berg involves assessing tissues from families with children with autism.  Researchers hope to analyze more families to validate these biomarkers.

The researchers subjected data driven biological modeling to a bioinformatic module to assess the differences between disease and normal samples. They put more emphasis on proteomic, metabolomic, and lipidomic data rather than genomics. Three key biomarkers were identified: SPTAN1, CORO1A, and GLUD1.

“The identification of biomarkers for autism and similar conditions would form the basis for a paradigm shift in the way we diagnose and likely treat these disorders,” said Stephanie Peabody, lead faculty at Harvard University’s Mind, Brain, Health, and Education course.

“The disorder is currently diagnosed by behavioral observation, and to date no associated biomarkers have been identified and clinically validated,” Berg Biosystems central nervous system diseases program leader Paula P. Perez said in a statement.

Niven R. Narain, president and chief technology officer of Berg Pharma explained that it is Berg’s belief that the fundamental biological workings of autism must be uncovered before any real biomarkers or therapeutics can be realized.

“These highly innovative approaches to exploring the underlying biological abnormalities of autism are revealing new genes and biochemical pathways possibly linked to the disorder,” added Eric Nestler, chairman of the department of neuroscience at the Mount Sinai School of Medicine in New York, “The work presented herein by the Berg research teams is an important start that may lead to earlier diagnosis and more effective treatments.”

NEW YORK, NY. (December 8, 2011) — A new study led by Dr. Eric Hollander, Chairman of the Advisory Council of The International Center for Autism Research and Education (ICare4Autism), demonstrates for the first time that the antidepressant fluoxetine produces an improvement in overall functioning and a decrease in repetitive behaviors in a significant number of adults with autism spectrum disorders.

The study, funded by the Orphan Products Division of the Food and Drug Administration (FDA), will be published this month in The American Journal of Psychiatry, the official journal of the American Psychiatric Association.  Its findings have important clinical implications.

To read the full article in The American Journal of Psychiatry click here.

Notes Dr. Hollander, Director of the Autism Spectrum Program of the Albert Einstein College of Medicine/Montefiore Medical Center in New York City, “While research on medications for the core features of autism spectrum disorders is still in the early stages, successful treatments could greatly improve the daily lives of patients and their families.”

ICare4Autism founder and CEO Dr. Joshua Weinstein hailed the new study as “groundbreaking work that will lead to novel therapeutic interventions with the potential to help the vast and rapidly growing population of adults with autism all over the world.”

Contact: Kim Robinson krobinson@icare4autism.org

Doreen Granpeesheh is the Founder and Executive Director of The Center for Autism and Related Disorders (CARD). Dr. Granpeesheh earned her Ph.D. in Psychology from UCLA under the guidance of Dr. Ivar Lovaas. (Photo by Ron Uriel)

A recent study conducted by Dr. Doreen Granpeesheh concluded that children are capable of making significant strides against autism with the help of intensive behavioral therapy. The study showed that the children who participated in the study produced significant gains in regard to their cognitive and adaptive functions.

The three-year study was conducted by the Center for Autism and Related Disorders (CARD).  CARD is one of the largest provider of behavioral intervention for children in the world.  The evaluations were conducted on 14 young children who underwent a blended structure of teaching that included a hybrid version of learning.  Applied Behavior Analysis (ABA) incorporated play-based learning with structured teaching.  Currently findings show that 43 percent of the participants show no signs of autism symptoms.

“Years ago, some doctors would tell parents that they should institutionalize their children after an autism diagnosis,” said Dr. Granpeesheh. “Today, we know that autism is treatable and recovery is possible with the right services. Every child deserves a chance to learn and grow, and we hope that these results provide hope to families of newly diagnosed children.”

Another major discovery made because of this research illustrated the fact that children who learned language skills earlier in therapy than their counterparts showed significantly more improvement over time.  Even the children who did not recover showed signs of improvement in their abilities to communicate and live independently.

This behavioral therapy is remarkable and shows limitless potential who for allowing children with autism to overcome their condition and maintain a better quality of life.

In summer of 2010, Dr. Granpeesheh presented “Curriculum for People with ASDs/ An International Model of Service Delivery for People with ASDs” at ICare4Autism’s 2010 International Autism Conference. The event was held in Jerusalem and attracted over 600 attendees from around the globe. CLICK HERE to VISIT the OFFICIAL CONFERENCE WEBSITE of the ANNUAL CONFERENCE.

Dr. Doreen Granpeesheh is the Founder and Executive Director of The Center for Autism and Related Disorders (CARD). Dr. Granpeesheh earned her Ph.D. in Psychology from UCLA under the guidance of Dr. Ivar Lovaas. She is a licensed psychologist and a Board Certified Behavior Analyst. She started the Center for Autism & Related Disorders, Inc.(CARD) in 1990. Click here to VIEW Extended Bio

SOURCE

CLICK HERE to VIEW SOURCE

Photo by CarbonNYC/Flickr

New studies have shown that individuals who have been treated with the hormone oxytocin have shown significant levels of improvement with their social interaction skills.  Oxytocin, often referred to as the “cuddle hormone,” aids in treating autism, which is a disease whose main side effect includes minimal ability to interact with others while sometimes simultaneously possessing extremely high levels of general intelligence.

French researchers conducted a study to determine if there was a link to the use of oxytocin and increased social interaction.  The viewed the participants, with autism, before and after administering oxytocin to them. During the study, the subjects paid more attention to the faces of other people in a ball game task and sought the most cooperative players.  Prior to the use of the hormone, subjects avoided the game entirely.

The hormone oxytocin is often referred to as the “cuddle hormone” because it helps mothers and children bond during the infancy stage and creates feelings of love between two lovers.  It also has been known to play a significant role in other aspects of social interaction that people with autism often suffer from: face recognition, social bonding, and interpreting gestures. Additional evidence shows that the brain matter we use in social interaction is different than the one responsible for memory and learning.  Oxytocin is the bond within the brain to help maintain social relationships.

Thomas Insel, Director of the U.S. National Institute of Mental Health, told the Seventh Forum of European Neuroscience (FENS) in Amsterdam, “These pro-social compounds could help people with autism improve their social interactions.”

According to reports, most researchers at the U.S. National Institute for Mental Health do not feel that this hormone presents a cure for autism, but it does make day-to-day life easier and would allow for an improvement in the social lives of any person who does suffer from this condition.

Photo by: moomettes/flickr

In an early 2010 interview, published in The Epoch Times, reporter James Ottar Grundvig asked renowed autism expert, Dr. Eric Hollander (Chair of Psychiatry at Montefiore Medical Center and Chair of Research for ICare4Autism) about his work with oxytocin. Grundvig asked, “On your research and “randomized double-blind study” on the effects of Oxytocin on repetitive behaviors in ASD: What have you learned so far about the causal relationship between Oxytocin in these children? Is it related to abnormalities in Oxytocin?”

Dr. Hollander responded by saying, “The studies were in healthy adults. We gave Oxytocin via a nasal delivery. It improved strong trust bonds. It improved emotions that could be read in the eyes. In the recent study of young adults (above 18 years of age) on the spectrum, Oxytocin therapy lessened the “stimming.” It reduced or eliminated repetitive behavior. Delivered intravenously, it improved social cognition. The improvements were preserved for a two-week period on a single dose.”

Dr. Hollander continued on to say, “We are going to conduct a third Oxytocin study with an eight (8) week time period to rescue certain symptom domains. It is important to expand the database in the young adults with autism. We need to acquire evidence by the studies that Oxytocin treatment works. Recruiting clinical patients for this study is vital. So is safety. Safety and evidence. In this study we will give Oxytocin with intranasal delivery.”

Sources

The Autism News

The Epoch Times

(Photo by monojussi/Flickr)

The world sits on the edge of their seats as we watch Cellceutix Corporation make leaps and bounds towards creating a drug that could potentially treat autism. Cellceutix is a preclinical cancer, anti-inflammatory, and autism drug developer that acquired the rights to a compound known as KM 391 in December, 2009. KM 391 is a molecule that was developed in India and will now be synthesized in the United States for testing. It is intended to be used as a treatment for autism, and there are currently no drugs on the market for such treatment.

Everyone from investors to researchers have been keeping a close eye on Cellceutix as they expedite the preliminary stages of testing with the backing of many organizations, awareness groups, and parents. Three stages of research with mice were conducted and the administering of KM 391 revealed a significant increase in serotonin uptake compared to the control group. Why is this significant? Many researchers argue that the equalization of serotonin uptake is an important development in the treatment of autism spectrum disorders.

The CEO of Cellceutix, George Evans, has been talking in length about the development of KM 391 and what this could potentially mean for the science and health care world. Mr. Evans was quoted saying,

“Autism is a condition where there is loss in certain brain functions, which leads to behavior disorder. The present scientific research directs us to a few things. One being the plasticity of brain tissue, the second being nerve tangling in the brain and the third being uneven production of serotonin, all which may have a significant effect on evolution and degree of severity of autism in any particular individual.”

Tests, completed by Cellceutix, on KM 391 also indicated that there may be no apparent side-effects in the long-term administration of KM 391 in mice. This type of information can help the drug maker in the process of becoming FDA approved, a step that they are currently en-route to.  If development continues to render positive results, this could be a very big break in the fight to effectively treat autism.

For more information on Cellceutix, their preliminary lab results and KM 391, visit the company’s website: http://www.cellceutix.com

Today it is possible for anybody to write a blog and share it online. People have many different reasons to do so. Some people do it to vent their frustrations in a journal type blog. Some people do it to remember personal experiences and have a written collection of them. Others still do it to share and swap information and knowledge.

Marie Myung-Ok Lee is a professor at Brown University. She is author of the novel Somebody’s Daughter, and is a winner of the Richard Margolis award for social justice reporting. In her published blog, “Why I Give My 9-year-old Pot,” she does many of these things.

Her son, J., is autistic. He is also the youngest person in Rhode Island with a medical marijuana license. She describes the difficult decision to take her young son off of traditional medicines used for autism symptoms and transition him to medical marijuana.

As well as having autism, J. had a spinal cord tumor that needed to be removed, and was diagnosed with an inflammatory bowel disease. Marie was afraid that his increasingly frequent violent outbursts and tantrums were due to his being in immense pain from these conditions.

“He began to bite and to smack the glasses off my face. If you were in that much pain, you’d probably want to hit someone, too,” Marie writes in her blog.

Marie explains in her blog that J. also suffers from the condition of pica, which means he consumes things that are not intended for food, and when he has to pass things like thread and cloth it can be extremely painful. He would come home from school and the entire front of his shirt would be gone. Marie was constantly worried what would happen if the long threads became knotted in his digestive organs.

Marie was worried about the side effects that go along with anti-psychotic drugs commonly used like Risperdal—Thorazine. She did not feel that they had enough of a positive outcome on her son for it to be worth the danger it posed.

“When I canvassed parents of autistic children who take Risperdal, I didn’t hear a single story of an improvement that seemed worth the risks,” Marie recalls. “….We met with J’s doctor, who’d read the studies and agreed: No Risperdal or its kin.”

She got the idea to try using medical marijuana when it was suggested to her by a homeopath. “After reading studies of how cannabis can ease pain and worry, and in consultation with his doctor, we decided to give it a try,” said Marie.

In the second part to Marie’s blog, she tells about how J. is going with his new medication and how happy she is that he is doing better. His autism is not cured; in fact, she says it seems like his autistic tendencies are more pronounced.

On the second page of her second blog Marie writes, “There’s a twist to the happy marijuana story, though. While the cannabis has eased J.’s most overwhelming problem, his autism has become more distinct.”

Marie is relieved that her son’s aggressive behavior has lessened but his vocal outbursts, typical of autism, are still present. She does not regret her decision to use the herbal remedy for her son, and she looks forward to his behavior continuing to improve.