Dr. Partington is a licensed psychologist and Doctoral-level Board Certified Behavior Analyst (BCBA-D). He has more than 35 years experience working with children with developmental disabilities, and operates the Strategic Teaching and Reinforcement System (STARS) Clinic. 

Partington Behavior Analysts is a service-delivery system working with children with autism and other developmental disabilities, their parents, and other professionals.  Each child’s curriculum is unique, individually developed through the assessment of basic language and learning skills.

First there is a precise measurement of the existing skills of the child. Next, the Partington makes a clear analysis of the conditions under which the skills are utilized. These direct observations provide insight into the behaviors or circumstances that prevent the child from acquiring new skills.

As the autistic child learns further, Dr. Partington’s ABLLS-R system tracks and continually measures learning achievements, giving his team ongoing data and ensuring the student’s acquisition of new skills and learning. Dr. Partington will speak more the developments that led to his system and the implementation at ICare4Autism’s upcoming August 2012 conference Autism: A Global Perspective.

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.

Candida Yeast

According to Henry Butt, M.D. of the University of Melbourne, a person’s general health depends largely on how well his or her body is able to absorb the byproducts of naturally present “gut flora.” Changes to our internal physical environment, especially persistent ones, can cause a variety of gastro-intestinal symptoms, such as diarrhea or abdominal distention. Patients with autism seem to be prone to such GI issues, which may be caused by an overabundance of yeast. According to some schools of thought, elevated yeast levels can cause a variety of autism-like symptoms, including increased sensory defensiveness, inappropriate laughter, and inattention. To date, however, there has been no proof that an elevated yeast level actually causes autism, and the etiology of autism remains unknown.

Ultimately, what Dr. Butt’s research shows is that while we are not yet able to pinpoint the causes of autism, we are reaching a point where we are able to ascertain whether or not secondary treatments, such as diet modification, are able to lessen some of the symptoms associated with autism. By additional outside factors that contribute to autism-like behaviors, we will perhaps be one step closer to finding the ultimate cause of this very prevalent disease.

An abstract of the lecture he presented at the 2011 ARMS Global Autism Conference can be found in HERE.

For more information on the validity of dietary changes and their effect on autism, please see the Mayo Clinic articles on autism and candida cleanse diets.

Recent discoveries in epigenetics could soon make a clinical difference for children with attention-deficit/hyperactivity disorder, autism spectrum disorder, and other conditions, according to an expert.

The implications go beyond targeting treatment for an individual child in your practice based on a specific genetic mutation, Dr. Hakon Hakonarson, director of the center for applied genomics at the Children’s Hospital of Philadelphia, said at a pediatric update sponsored by Miami Children’s Hospital. Recent advances point to gene alterations that modify shared pathways, so the potential for wider application beyond ADHD and ASD — such as unexpected discoveries related to pediatric neuroblastoma — is a real possibility.

Dr. Hakonarson is a member of ICare4Autism’s Advisory Council and will be speaking about the gene networks underlying autism targeted for therapeutic intervention at the upcoming ICare4Autism International Autism Conference being held in Israel.

Hakon Hakonarson, M.D., Ph.D., is an associate professor of Pediatrics at The University of Pennsylvania School of Medicine.  He is a physician-scientist and director of The Children’s Hospital of Philadelphia’s Center for Applied Genomics (CAG), a high-throughput highly automated genotyping facility founded to identify the genetic causes of complex medical disorders in children, such as autism and cancer, with the objective of developing new therapies.

Dr. Hakonarson has an extensive track record in human genetics and has developed an international reputation amongst his peers. He has served previously in several senior posts in the biopharmaceutical industry, including as the director of Inflammatory and Pharmacogenomics Research and the vice president of Clinical Sciences and Development and CSO.

Dr. Hakonarson has also been the principal and co-principal investigator on several NIH-sponsored grants, and he has published numerous high-impact papers on genomic discoveries and their translations in some of the most prestigious scientific medical journals, including Nature, Nature Genetics and The New England Journal of Medicine.

Time Magazine listed Dr. Hakonarson’s autism gene discovery reported in Nature, 2009, among the top 10 medical breakthroughs of that year. With over ten years of experience in pioneering genomics research and genome-wide mapping and association studies, Dr. Hakonarson has intimate knowledge of the complexities of large-scale genomics projects and has put together the necessary infrastructure and workflow processes to unravel these complexities.

The Parent Child Training Program (PCTP) at Action For Autism is a ‘model’ program that addresses the critical need for parent education. How to parent an autistic child is not an intuitive process. True parental involvement is the key to successful autism programming and activities.

PCTP’s training empowers parents to take charge of their children’s health and education. Parental involvement on this level not only helps educate children, but it heals the emotional stresses that parents face. The PCTP training program is a ten-week country wide opportunity.

The coursework covers behavior modification and skills maintenance. Mothers learn tools and tactics for facilitating learning. Most importantly, they gain confidence through community by meeting other parents. This is the goal of ICare4Autism’s conference and our institute at large. By sharing information we strengthen our skills.

Ms. Barua’s organization quotes that they hope for “a society that views the interdependence of people of every ability as valuable and enriching.” AFA seeks to provide equal opportunities for all. Their goals are not only research and expanding autism education in India but also independent life training and skills.

The AFA’s reach goes beyond Los Angeles and India to the Europe. AFA created “Activate Yourself!” to put into action the value of all people. Due to the nature Autism, people with this disorder have difficulties in terms of self-advocating their fundamental rights. Therefore “Activate Yourself” was developed to encourage active participation of young people with ASD; empower them as active citizens, make them aware of their role in creating their own future and promote their equal rights and opportunities. The project is supported by the Youth in Action Programme of the European Union.

This kind of active work is right in line with the International Center for Global Research. We learn as much in the classroom as we do from the scientists in our lab. How to educate our autistic youth comes directly from their communication and achievements.

ICare4Autism Founder and President, Joshua Weinstein with Dr. W. Ted Brown

The Fragile X Syndrome is the most common inherited cause of intellectual disability. Fragile X has a population incidence of approximately 1 in 4,000 affected (full-mutation) males, 1 in 6,000 affected females, 1 in 700 premutation carrier males and 1 in 260 carrier females. This disorder typically causes moderate to severe intellectual deficiency in affected males, and milder deficiency in affected females.  It is associated with autism or PDD-NOS in about 50% of affected males, and most affected individuals evidence some autistic-like behaviors. 

Fragile X syndrome is considered to be the most common known single gene cause of autism. It is estimated that Fragile X accounts for 2-4% of intellectual deficiency overall, and is second to Down syndrome, which is not inherited, as a genetic cause of intellectual deficiency. The fragile X mutation results in the lack of expression of the Fragile X Protein (FMRP), an mRNA finding protein, which results in overexpression of the glutamate (stimulatory) and under-expression of the GABA (inhibitory) pathways in the brain.

Current experimental treatment trails are being carried out in Fragile X and in autism with glutamate receptor blockers and GABA stimulatory drugs.  The underlying defects in neurochemical pathways in both conditions appear to have much in common, involving the ERK, mTOR and PI3K signaling pathways.

Dr. W. Ted Brown will be speaking at the upcoming ICare4Autism International Conference on Autism, in Israel, about the relationship between Fragile X syndrome and autism.

W. Ted Brown, MD, PhD, is the Director of the New York State Institute for Basic Research (IBR) in Developmental Disabilities, Chair of the IBR Department of Human Genetics and Director of the IBR Jervis Clinic.  He is a fellow of the American College of Medical Genetics and Professor at the State University of New York- Downstate Medical Center in Brooklyn.

In 1991, he was appointed the Director of IBR’s Jervis Clinic and in 2005 became IBR’s Director. He is the author of more than 350 publications.  At IBR, he began research focused on the Fragile X syndrome, which was then newly recognized and is now considered to be the most common inherited cause of intellectual deficiency or mental retardation. At IBR, he established a DNA diagnostic and molecular laboratory. He developed a screening and prenatal testing program for Fragile X.

His work on Fragile X has ranged from clinical studies relating to phenotype, to family inheritance studies, to mouse model development, and to basic molecular research. His current research is focused on autism genetics and the Fragile X syndrome.

The daily encounters and friction between the staff of therapists and the families of children with special needs (and sometimes also with the extended family) are often obscured within the obligations of rather complicated professional and mental challenges.

The family of the special needs child – who face a tremendous financial burden on top of the emotional burden they already bear – loses its privacy; they find themselves exposed, against their will, to the team of therapists. Often there are sensitive situations which cannot be hidden, and sometimes the family encounters open or latent criticism. The therapists also find themselves privy to the difficult emotional situation of the family members; crises in the relationships between the child’s parents; and complicated ethical problems: all of which while they are supposed to be providing professional and appropriate treatment for the child with whom they are working.

Inbar Konforti will be speaking about bridging the gap between families and therapists in home-based ABA at the upcoming ICare4Autism International Autism Conference in Israel.

The presentation will cover how parents and family members should be supported and involved in the treatment process, the difficulties experienced by the parents of children with special needs during such complex treatment and the difficulties experienced by the therapists.  She will also discuss how to optimize the effectiveness in applying such a home involvement program.

Inbar Konforti is the founder and Director of the Refael Center (www.merkaz-refael.co.il) – the National Guidance Center to Train Behavioral Therapists ABA; Certified Behavior Analyst BCABA, with 12 years’ experience working with children suffering from autism and delayed development. She is a graduate of the University of Tel Aviv for certification studies in Applied Behavioral Analysis. BA (Honors) in Special Education from Bar Ilan University. Inbar Konforti is a lecturer on ABA at various locations in Israel, instructor of the Home-Based Program, and programs designed to integrate children suffering from autism and delayed development into schools and kindergartens.

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

Young brains are capable of forming many new synapses, and are consequently better at learning new things. That is why we acquire vital skills – walking, talking, hearing and seeing – early on in life. The adult brain stabilizes the synapses so that we can use what we have learned in childhood for the rest of our lives. 

Earlier research found that approximately one fifth of the synapses in the brain inhibit rather than excite other nerve-cell activity. Neuroscientists have now shown that many of these inhibitory synapses vanish if the adult brain is forced to learn new skills. They came to this conclusion by labeling inhibitory synapses in mouse brains with fluorescent proteins and then tracking them for several weeks using a specialized microscope. They then closed one of the mice’s eyes temporarily to accustom them to seeing through just one eye. After a few days, the area of the brain that processes information from both eyes began to respond more actively to the open eye. At the same time, many of the inhibitory synapses disappeared and were later replaced by new synapses.

Inhibitory synapses are essential for the way networks function in the brain. “Think of the excitatory synapses as a road network, with traffic being guided from A to B, and the inhibitory synapses as the matrix signs that regulate the traffic,” explains research leader Christiaan Levelt. “The inhibitory synapses ensure an efficient flow of traffic in the brain. If they don’t, the system becomes overloaded, for example as in epilepsy; if they constantly indicate a speed of 20 kilometres an hour, then everything will grind to a halt, for example when an anaesthetic is administered. If you can move the signs to different locations, you can bring about major changes in traffic flows without having to entirely reroute the road network.”

Inhibitory synapses play a immensely influential role on learning in the young brain. People who have neurodevelopmental disorders – including autism – may have trouble forming inhibitory synapses. The discovery that the adult brain is still capable of pruning or forming these synapses offers hope that pharmacological or genetic intervention can be used to manage this process. This could lead to important guideposts for treating autism, but also repairing damaged brain tissue.

Daniëlle van Versendaal, Rajeev Rajendran, M. Hadi Saiepour, Jan Klooster, Laura Smit-Rigter, Jean-Pierre Sommeijer, Chris I. De Zeeuw, Sonja B. Hofer, J. Alexander Heimel, Christiaan N. Levelt. Elimination of Inhibitory Synapses Is a Major Component of Adult Ocular Dominance Plasticity. Neuron, 2012; 74 (2): 374 DOI:10.1016/j.neuron.2012.03.015

Royal Netherlands Academy of Arts and Sciences. (2012, April 30). “Learning Mechanism Of The Adult Brain Revealed.” Medical News Today. Retrieved from http://www.medicalnewstoday.com/releases/244690.php.

Genetic variation caused by mutation leading to autism spectrum disorders is well established, and research has repeatedly implicated “de novo” (new) mutations, those that show up for the first time in affected children, as being especially pertinent. Identification of the specific genes connected to autism may lead to vital advances in the diagnosis and treatment of autism spectrum disorders. The current study, led by Dr. Michael Wigler from Cold Spring Harbor Laboratory, used gene sequencing methods to look at nearly 350 families with healthy children and children on the autistic spectrum, part of the larger Simons Simplex Collection. Specifically, the researchers looked for mutations that were present in the children but not in their parents.

The researchers found that autism is linked with the types of new mutations that are likely to disrupt the function of a gene. By disrupting one of the pair of healthy genes that we normally inherit, such mutations alter “gene dosage.” There was double the incidence of such mutations in the affected child than in the healthy child, but little to no difference in the overall incidence of much more common types of mutations. The results also showed that children with older parents have more new mutations. This is in line with other recent reports and possibly explains why older parents are more likely to have children on the autism spectrum. “More generally, this work and the work preceding it point to the importance of new mutations and gene dosage in so-called complex genetic disorders,” says Dr. Wigler.

The study also identified many new autism candidate genes, and these genes showed a strong overlap with genes linked to the pathway involved in fragile X syndrome, one of the best studied cognitive-behavioral disorders in humans. “We observe strong statistical evidence for the link between autism and fragile X syndrome, first suggested by study coauthors Dr. Jennifer Darnell and Dr. Robert Darnell, in a paper they published in Cell last year,” explains Dr. Wigler. “Our finding has important implications for therapy and shows that autism is in large part a molecular disorder of neuroplasticity, the mechanisms by which our nervous system adapts to change.”

Sources:

Ivan Iossifov, Michael Ronemus, Dan Levy, Zihua Wang, Inessa Hakker, Julie Rosenbaum, Boris Yamrom, Yoon-ha Lee, Giuseppe Narzisi, Anthony Leotta, Jude Kendall, Ewa Grabowska, Beicong Ma, Steven Marks, Linda Rodgers, Asya Stepansky, Jennifer Troge, Peter Andrews, Mitchell Bekritsky, Kith Pradhan, Elena Ghiban, Melissa Kramer, Jennifer Parla, Ryan Demeter, Lucinda L. Fulton, Robert S. Fulton, Vincent J. Magrini, Kenny Ye, Jennifer C. Darnell, Robert B. Darnell, Elaine R. Mardis, Richard K. Wilson, Michael C. Schatz, W. Richard McCombie, Michael Wigler. De Novo Gene Disruptions in Children on the Autistic Spectrum. Neuron, 2012; 74 (2): 285 DOI:10.1016/j.neuron.2012.04.009

Cold Spring Harbor Laboratory (2012, April 25). A striking link is found between the Fragile-X gene and mutations that cause autism. ScienceDaily. Retrieved April 27, 2012, from http://www.sciencedaily.com­/releases/2012/04/120425140359.html