“Research aimed at improving early detection of autism has largely focused on measurement of social and communication development,” said Dr. Rebecca Landa, study author and director of the Center for Autism and Related Disorders at Kennedy Krieger Institute. “However, disruption in early motor development may also provide important clues about developmental disorders such as autism.”

On May 17 in Toronto, Dr. Landa will present this and other new research on motor delay and how it impacts development of language and social skills. The spring International Meeting for Autism Research is an annual scientific meeting providing international researchers with an opportunity to share their findings on ASD.

Before Dr. Landa’s current study, the head-lag text has not been used to diagnose ASD. Her team assessed infants in a “pull-to-sit” task, a simple measure of postural control in infants. Typically developing infants achieve this type of postural control by four months of age.

Dr. Landa’s team studied two groups of infants. The first group consisted of 40 infants, ages 5.6 to 10 months, considered to be at high genetic risk because a sibling had autism. Dr. Landa and her team examined their ability to maintain head alignment when being carefully, yet firmly, pulled by the arms from lying flat on his/her back to a sitting position. Infants were scored according to whether their head maintained alignment with the spine, or was in front of the spine, during the task. Lack of this head control indicated head lag.

The second group examined six-month-olds at a single point in time for the presence of head lag. Dr. Landa and her team found that 75% (n =15) of high-risk infants exhibited head lag, compared to 33% (n =7) of low-risk infants, further supporting that head lag is more likely in infants at risk of developing ASD. “Our findings show that the evaluation of motor skills should be incorporated with other behavioral assessments to yield insights into the very earliest signs of autism,” said Dr. Landa.

“While previous research shows that motor impairments are linked to social and communication deficits in older children with autism, the field is just starting to examine this in younger children,” said Dr. Landa. “Our initial research suggests that motor delays may have an important impact on child development.”

Building on the head lag research, Dr. Landa’s team conducted a separate longitudinal study with 14-, 24- and 36-month-old children at high and low risk of developing ASD. The study found that motor delay becomes increasingly evident as children with ASD near their third birthday, yet not all children with ASD experience motor delay. Results showed that children with ASD who experience motor delays are more severely impaired by three years of age than children with ASD with no motor delays.

“While more research is needed to examine why not all children with ASD experience motor delay, the results of our studies examining motor development add to the body of research demonstrating that early detection and intervention for infants later diagnosed with autism is possible and remains crucial to minimize delays and improve outcomes,” said Dr. Landa.

To reach Dr. Landa’s team at the Kennedy Krieger Institute follow this LINK.

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.

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

Eyal Ben-David and Sagiv Shifman, Hebrew University of Jerusalem

It is widely understood that different genes interact with environmental factors to influence autism, but new research finds a common ground as the various genes involved in autism appear to influence special processes in the brain.

Autism is influenced by many different genes, and different genes are involved in different individuals, making it hard to find the common genetic ground between patients.

Now, research conducted at the Hebrew University of Jerusalem has shown that the different genes involved in autism tend to be involved in specific processes in the brain. This can explain similarities in the behavioral symptoms of different people with autism, but also the large spectrum of behaviors observed in different individuals with autism.

The Hebrew University research, conducted by Dr. Sagiv Shifman and his doctoral student Eyal Ben-David of the Department of Genetics at the Alexander Silberman Institute of Life Sciences, has potential implications for early diagnosis as well as for treatment of autism in the future.

Dr. Shifman’s areas of interest are the genetics of schizophrenia and autism and genetics of variation in gene expression.  He will be speaking about this research “Shared neuronal pathways affected by common and rare variants in autism spectrum disorders” at ICare4Autism’s upcoming International Autism Conference in Jerusalem.

The mission of the Hebrew University project was to test the contribution of rare genetic mutations, as well as the genetic variations which are common in the population, and to see whether these different types of genetic risk factors are related. Instead of testing individual genes, the researchers chose to study gene collections, in an attempt to understand general pathways involved in autism.

Based on genetic data from thousands of families with autistic children, the researchers studied the contribution of different groups of genes to autism.

To their surprise, they found – when looking at mutations found in autism as well as thousands of common gene variants that are more frequently seen in individuals with autism – that these mutations and variations are located in specific functional groups.

When looking at families with one individual with autism (sporadic cases), and in families where there is more than one affected individual (multiplex cases), the same variants were seen acting in both cases. These groups of genes are highly active in the first year of life, and are involved in processes of learning, memory, and sensory perception.

The Hebrew University scientists believe that their work could pave the way for large-scale genetic scans in the future that could allow for early diagnosis of autism. Further, the results of their study provide a ray of hope that by concentrating on specific gene groups, it will one day be possible to design drugs which could alleviate symptom

Ben-David E, Shifman S (2012) Networks of Neuronal Genes Affected by Common and Rare Variants in Autism Spectrum Disorders. PLoS Genet 8(3):e1002556. doi:10.1371/journal.pgen.1002556

http://medicalxpress.com/news/2012-05-genetic-disrupted-autistic-brain.html

Overall, they found autism had been diagnosed in 10 percent to 11 percent of full siblings and 5 percent to 7 percent of half-siblings.

The new finding may not be a surprise – given that half-siblings share about 25 percent of their genes – but provides new clues to how autism is inherited.

The study included more than 5,000 U.S. families enrolled in a nationwide autism registry in which there was a child with autism and at least one other sibling. Included were 619 families with at least one maternal half-sibling, meaning the children shared the same mother but not the same father. The researchers compared autism recurrence among the half-siblings to the rate among the full siblings.

The researchers also looked at half-siblings in a group of St. Louis families to try to replicate the findings from the larger study.

“We found that autism risk for half-siblings is about half of what it is for full siblings,” principal investigator Dr. John Constantino, director of child and adolescent psychiatry at the Washington University School of Medicine in St. Louis and psychiatrist-in-chief at St. Louis Children’s Hospital, said in a university news release.

“Most of the half-siblings we studied had the same mothers. Given that half of the risk of transmission was lost and half was preserved among those maternal half-siblings, mothers and fathers appear to be transmitting risk equally in families in which autism recurs,” Constantino said.

The findings also suggest that in many families, the transmission of autism from parents to children is the result of the effects of many genes, with each contributing a small proportion of the risk, he said.

The study was published online April 16 in the journal Molecular Psychiatry.

Sources:

J N Constantino, A Todorov, C Hilton, P Law, Y Zhang, E Molloy, R Fitzgerald, D Geschwind. Autism recurrence in half siblings: strong support for genetic mechanisms of transmission in ASD. Molecular Psychiatry, 2012; DOI:10.1038/mp.2012.9

Washington University in St. Louis (2012, April 17). Study of half siblings provides genetic clues to autism. ScienceDaily. Retrieved April 23, 2012, from http://www.sciencedaily.com­/releases/2012/04/120417143849.htm

Attendees at past ICare4Autism International Autism Conference

On August 1-2, 2012, more than 1,500 leaders in autism research, educationand policy from every continent will gather in Jerusalem, Israel, for ICare4Autism‘s 2012 International Conference, “Autism: A Global Perspective“.

Dr.Joshua Weinstein, CEO & Founder indicated that the, “Conference will highlight groundbreaking research into the causes and treatments of Autism Spectrum Disorders, and serve as a catalyst for powerful new collaborations to tackle the global autism crisis”.

Students from around the world are invited to present their autism research at a poster session. One poster will be selected by the review committee to receive a scholarship to attend the Conference.  The scholarship will cover travel, hotel accommodations and conference registration fee. The scholarship winner will also be invited to participate on one of the Conference panels. The Poster Session consists of physical displays (aka posters) of information shown during a 60-90 minute session, with presenters standing by their poster reporting empirical research and pilot projects for future research.  Attendees have the opportunity to speak with the presenters about their work.

Dame Stephanie Shirley, The British Government’s Founding Ambassador for Philanthropy, and Chairman of the Shirley Foundation, will deliver the Keynote Address and The First Lady of Panama Mrs. Marta Linares de Martinelli will be giving opening remarks.

They will be joined by distinguished researchers and practitioners from more than 20 countries who will unveil their latest biomedical discoveries andeducational innovations.

Groundbreaking biomedical research will be presented; notably Henry Markram, Ph.D, the Director of Blue Brain Project, Coordinator of the Human Brain Project and Professor at Swiss Federal Institute for Technology (EPFL) will present, “Prospects of using detailed brain simulations to explore possible causes and treatments of Autism”

Innovativeeducational practices will be featured in presentations by Dr. S. Mariam Aljunied (Senior Autism Specialist, Singapore Ministry of Education); Dr.Carlos MarcinSalazar (Director of the National Autism Clinic of Mexico); and Dr. Pamela Wolfberg (Director, Autism Spectrum Program,UniversityofCalifornia San Francisco). Attendees will tour the campus where ICare4Autism will open the world’s first Global Autism Research andEducationCenterin 2015.

ICare4Autism (InternationalCenterfor Autism Research & Education) is a charitable organization, founded in 2004 to catalyze breakthrough innovations in autism research, diagnosis and treatment.