“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.

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.

A drawback to these videos is that some children have a hard time connecting with the subjects in the videos as they can’t relate to them. However, according to research in autism, children with autism do relate to their own face and can recognize it in a mirror.

Sen-Ching (Samson) Cheung, an associate professor in the University of Kentucky College of Engineering’s Department of Electrical and Computer Engineering and a faculty member within the UK Center for Visualization and Virtual Environments, has a son with autism.  Most of his research has been in the area of multimedia information analysis – it occurred to him that his area of research could be used to help his son and others like him.

“I enjoy solving problems and developing new theories, working on new technology and future products,” Cheung said. “Though we were disappointed about the diagnosis, we began taking our son to different therapies and reading about effective ways to help children with autism,” Cheung recalls.

Cheung hypothesized that if children with autism could watch themselves accomplishing basic daily living tasks they would be more likely to develop those skills given their inclination to want to look at themselves.

Working with UK pediatric professor Dr. Neelkamal Soares, autism expert from the UK College of Education Lisa Ruble and developmental psychologist from the College of Arts and Sciences Ramesh Bhatt, Cheung has submitted proposals for funding to develop what is called a “virtual mirror.” In the virtual mirror, a child will be able to look at himself in a large computer display. As he is looking at himself, the program will take his image and virtually create the child carrying out the very actions he needs to learn (speaking, sitting still, social interactions with others, etc.). Cheung hopes that this new technology can help children like his son better concentrate on behavioral learning and generalizing abstract concepts to daily life.

Sen-Ching (Samson) Cheung, associate professor in the University of Kentucky College of Engineering’s Department of Electrical and Computer Engineering

“Developing something new that will help autistic children is incredibly rewarding for me. I am taking my background and expertise and connecting them to something I have a personal stake in seeing succeed. It’s for our child and also for countless other parents of autistic children who need help.” Cheung says.

“I am hopeful for the virtual mirror’s possibilities — it is the most important work I have ever done,” he says. “But even more so, I am extremely hopeful for my son.”

“There is very little right now in terms of services when you reach 21”  says Paul Haughton, Ph.D., chief psychologist at CORA Services “We’re focusing on children, rightfully so, but as they move into adulthood and turn 21 it’s almost like they drop off a cliff in terms of organized systematic services for them.”

There is an increasing push for services to support those with autism in transitioning into the workplace. ICare4Autism is establishing the world’s first comprehensive autism workforce development initiative in Jerusalem which will encompass workforce entry services for high school students with autism, post-transition supportive services, vocational and employment services, and a targeted program to place persons with Asperger’s Syndrome in technology sector jobs.

ICare4Autism endeavors to spotlight other organizations that are doing similar work.  Chestnut Hill College has launched an academic and community initiative to address the rising need for more services for the growing ASD adult population. The most recent state census estimated the number of adults with ASD in Pennsylvania will rise from 3,800 in 2010 to more than 10,000 in 2014.

“There’s clearly a dramatic need for cost effective programs for adults,” said Steven Guerriero, Ph.D., dean of the School of Graduate Studies. “With this initiative, we’re developing a unique and beneficial niche.”

A new focus in the Clinical and Counseling Psychology program will concentrate on ASD across the lifespan. The four courses may also be taken as a post-graduate certificate or licensure preparation credits.

A new 12-credit professional certificate focused on the needs of adults with ASD will also be available in the fall. It is geared to professionals in various human services positions, including those in the medical, employment, education, and public safety fields. The course will look at current and historical research and quality-of-life and family issues faced by adults with ASD.

The College is hoping to expand the initiative to develop public outreach activities and direct-services programs for adults with ASD.

While the functioning PTEN gene is known for it’s anti-cancer roll in powering down cell growth, proliferation, and survival, a mutated version of PTEN has the opposite effect and has been found in autistic individuals with macroencephaly, or an increase in brain volume. Previous work with the mutated form of PTEN in mice has resulted in boosted cell size and number of neurological connections in the brain.

For this study, Professor Tony Zador and his team distributed the mutated gene to just the neurons in the auditory cortex, leaving the functioning gene in neighboring neurons of the brain. As a result, a rapid and robust increase in the strength of both long-range and local inputs due to the increase in length and density of dentritic spines (tiny, knob-like structures that extend from the neuron and act as antennae for electrical or chemical signals.

This effect, however, can be prevented and blocked by chemical negation. Because the PTEN gene controls the intracellular enzyme called mTORC1, a cell growth promoter, when the gene is mutated, there is an abundance of the enzyme. Zadors team found that, by treating the affected mice for 10 days with the mTORC1-inhibitor rapamycin, the increase in dendritic spine number and signal strength was prevented.

While the study is promising in the treatment of hypersensitivity, it brings researchers one step closer to understanding a possible autism spectrum disorder genotype. An autism spectrum disorder phenotype could help researchers develop new methods of treatment and therapeutic strategies for those with autism.

“This is a very significant study because it confirms that genetic factors are involved in the cause of the disorder,” said Dr. Peter Szatmari, a leading autism researcher who is the head of child psychiatry and behavioral neuroscience at McMaster University in Ontario. “But it shifts the focus to the possibility that environmental factors could also be really important.”

Little is known about the causes of autism and as recently as a few decades ago, psychiatrists thought autism was caused by a lack of maternal warmth. While it is currently thought that there are genetic explanations, there has been growing acceptance that genes do not paint the whole picture, partially because incidences of autism appear to be increasing faster than our genes can evolve.

“I think we now understand that both genetic and environmental factors have to be taken seriously,” said Dr. Joachim Hallmayer, an associate professor of psychiatry and behavioral sciences at Stanford and the lead author of the new study, which is to be published in the November issue of Archives of General Psychiatry.

Other experts have cited factors like parental age, multiple pregnancies, low birth weight and exposure to medications or maternal infection during pregnancy.

In Dr Hallmayer’s study, the largest of its kind among twins, looked at 192 pairs of identical and fraternal twins whose cases were drawn from California databases. At least one twin per pair had the classic form of autism. In many cases, the other twin also had classic autism or a milder “autism spectrum” disorder like Asperger’s syndrome.

Identical twins share 100 percent of their genes while fraternal twins share only half of their genes. So comparing autism rates in both types of twins can enable researchers to measure the importance of genes versus shared environment.

The study found autism spectrum disorders occurred in both children in 77 percent of the male identical twins and in 50 percent of the female identical twins. As expected, the rates among fraternal twins were lower: 31 percent of males and 36 percent of females.

The researchers concluded that only 38 percent of the cases could be attributed to genetic factors, compared with the 90 percent suggested by previous studies.

And more surprising still, shared environmental factors appeared to be at work in 58 percent of the cases.

There has been some critique of these findings.  “Overall, I think the authors of this study were speculating a lot and their findings go against previous data,” Max Wiznitzer, MD, associate professor of pediatrics and neurology at Case Western Reserve University in Cleveland, Ohio, and pediatric neurologist at Rainbow Babies and Children’s Hospital in Cleveland, told Medscape Medical News.

“There are wide margins of how to apply the information and the authors appear to be leaning in 1 direction when their data could have easily allowed them to go in another,” he added.

“In other words, their conclusions are exceeding what their data can support. It doesn’t support their enthusiastic interpretation of the prominence of environmental factors,” Dr. Wiznitzer asserted.

He pointed to a recent twin study by researchers from Johns Hopkins Medical Institutions.

“Their raw data looked very similar except that they had a higher concordance rate in the twins than this study shows. And they didn’t reach the conclusion that there is a significant environmental factor, which is very interesting,” said Dr. Wiznitzer.

“I don’t think they’re saying anything new. They’re just putting a spin on it. There are a lot of environmental factors out there. But I think all of us would agree that there is still a very strong genetic basis to autism that is different than heritability.”

“I think the big question is this: how do environmental factors interact with the child’s innate genetic infrastructure? Is it just that those with a specific genetic vulnerability are susceptible to the environment? That’s the discussion now,” concluded Dr. Wiznitzer.

Children with Autism were taught how to use Google SketchUp

Researchers at the University of Utah have created a program that helps kids with autism focus on building their skills and utilizing an aptitude for visual-spatial thinking, computers and other electronic media.

Cheryl Wright, associate professor of family and consumer studies, coordinated the workshops in partnership with Google’s Project Spectrum, an initiative to teach job skills to kids with autism. Steve Gross, a certified SketchUp instructor and designer for Universal Creative theme parks, leads the workshops.

Each workshop teaching the 3D modeling software SketchUp was two hours long and included hands-on training as well as time for students to share their design projects. At the end of six weeks, the participants, all boys, presented their designs to classmates at their schools and at community events.

The organizers soon found far greater benefits to these workshops than acquiring a skill set for potential employment.  The sessions facilitated social engagement among the students and their peers, parents, siblings and even grandparents.

The success of the workshops led to greater self-confidence in parents, who began to rethink what they expected of their parenting ability and began to feel more effective.

They also noticed their sons’ sincere concern about friends in the workshops – something that hadn’t happened in other social interactions. The parents and grandparents who noticed these changes began to feel optimistic that the boys would be able to develop genuine relationships with children and adults in the future.

The study published in Nature Medicine, explained that Timothy syndrome is caused by a genetic mutation that changes one amino acid in a calcium channel expressed in the brain. Therefore the neurons secrete twice as much dopamine and three times as much norepinephrine than control neurons. Being that these neurotransmitters have important social functions, their increased synthesis could play a role in the development of autism.

The Timothy cells also had an altered profile of neuronal differentiation markers, with the changes suggesting that Timothy neurons would preferentially target different areas of the brain. This is consistent with an emerging idea among those who study ASDs that they arise from defects in the connectivity between cortical areas.

The autism seen in Timothy syndrome is unusual, because it is caused by a single, known genetic mutation. Now that some of the functional steps between the genetic mutation and the neurodevelopmental disorder have been elucidated in this study, perhaps they can isolate the causes of autism from those of Timothy syndrome.

Curemark reported the drug was now in phase-3 trial and showing statistically significant effects on symptoms of autism compared with a placebo on core and non-core symptoms. Curemark said the analysis of the full trial data is ongoing and the results will be presented at an upcoming medical meeting.

“We are extremely pleased with the results of our trial,” Curemark CEO Joan Fallon said. “We wish to thank all the children and their parents who participated in the study and look forward to a full review of the data by the FDA.”

The Food and Drug Administration has granted the drug fast-track status, a standard procedure for investigational drugs to treat serious or life-threatening conditions that may concentrate on chronic medical needs that have gone untreated.