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.

In particular, of the 29 cytokine levels investigated, the researchers found disturbed levels in five related to the T-helper cell immune system and three involved in hematopoiesis or the production of blood cells possibly affecting antibody production required for normal functioning of the immune system.

Both the immune system and genetic factors have been implicated in the biological basis for autism, said Merlin G. Butler, professor of psychiatry at the KU Medical Center. “Our study further supports a disturbed immune system in children with classic autism that may be related to genetic factors as cytokine proteins are coded by genes distributed among the human chromosomes.”

Additionally, studies in families with autism have shown the significant contribution of genetics, including deletions and duplications of chromosomes and mutations or variants found in specific genes involved with brain development and function, he said.

“The importance of identifying early immunological disturbances that may contribute to autism has implications for identifying risk factors, diagnosis and possibly intervention as cytokines may play a role in the function of the developing brain,” he said.

The study was one of the largest of its kind to date, analyzing the plasma of 99 children with AD between 5 and 10 years of age and that of 40 age- and gender- matched unrelated healthy siblings without AD under the same clinical assessments, specimen processing and laboratory conditions. The male-to-female ratio closely matches that seen in the ASD population, and there were gender-based differences found in five cytokines.

Butler said that the purpose of this research is linking the genes encoding immune-related proteins and cytokines to ASD along with identifying the sequence of the events during critical periods of brain and neurological development. This could allow for earlier recognition, diagnosis and potential treatment.

Ann Manzardo, assistant professor of psychiatry, was the first author on the study. The study was published in the April 2012 International Journal of Developmental Neuroscience.

Martha Naber, education program coordinator at KVCC, said the program is important for the health of families and communities.

As the prevalence of Autism rises, so does the need for educators to have a thorough understanding of those autism spectrum disorders.  Naber said the courses will be helpful for a host of people, including education technicians, teachers in search of recertification credits, health-care workers and family members.

“Each person on the spectrum is unique,” she said. “There is no one method (of teaching). One (child) might be very verbal and one might not have any language. One might flap their arms and one might not at all. One might be highly sensitive to light and another might be sensitive to sounds.”

Courses in the college’s 62-credit program include Working with Family Members, Language Development, Data Collection, and Assisted Technology.

Kennebec Valley Community College President Barbara Woodlee said the college is reacting to the needs of the community.

“KVCC has always adapted its program offerings to meet changing workforce needs, and the addition of a two-year autism degree is both timely and appropriate given the college’s experience in autism education and the significant increase in autism diagnosis nationwide,” she said.

Two courses for the degree will be offered this summer, according to Jonathan Humphrey, media specialist at the college. One will be available statewide through interactive television sites and one will be available online.

We have known for many years that autism is more common in boys than girls. Latest CDC figures show that as much as 5 times as many boys are diagnosed with autism than girls. The disorder appears different in the sexes, and these differences may have important implications for both diagnosis and treatment.

There is currently no adequate explanation for this imbalance in the sex ratio, but Dr. Peter Szatmari, a professor and the head of the Division of Child and Adolescent Psychiatry in the Department of Psychiatry and Behavioral Neurosciences at McMaster University believes that something could be protecting girls from developing ASD and other developmental disorders. That factor could be hormone levels in utero, epigenetic factors that turn autism susceptibility genes “on” and “off” during development, or the fact that young girls have in general better social skills than boys and so need a bigger “dose” of what causes ASD to cross that threshold to being impaired.

Dr Szatmari explains “It is possible that those possible protective factors, once identified and understood, could play an important role in pointing toward new treatments and interventions that capitalize on those protective factors and so make a real difference to long-term outcomes.”

The clinical expression of autism is also different in boys. Generally speaking, girls with autism have greater learning disabilities and more problems academically than boys.

Higher-functioning girls with ASD are may be missed by clinicians who are not experts in diagnosis, Dr Szatmari states. There is some evidence that among this subgroup, girls have better social skills than higher-functioning boys with ASD and so are not diagnosed as readily. Although, the symptoms of ASD can appear as extreme shyness or anxiety in girls, masking that they may not be responsive to the social cues of others.

Girls on the autism spectrum have fewer repetitive behaviors such as rocking and spinning and less sensory sensitivity than boys with ASD. Since these signs are subtle, doctors may not recognize the disorder. Diagnosis at a later age reduces the chances of early treatment, which is understood to provide a better outcome.

Some evidence suggests that girls with ASD are bullied less often than boys. They appear to blend in more easily with their peers and are less often the victim of bullying by other girls.

Understanding these differences both biologically and experientially holds the promise of improving the long-term outcome of all children with ASD. Most important, clinicians need to be sensitive to how the disorder shows up in girls so that those affected can receive early intervention as soon as possible.

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.”

Although individuals with Asperger’s tend to perform better cognitively than those with autism, the extent of the overlap between Asperger’s and high-functioning autism is unclear. Overall, relatively few differences are reported between the causes of Asperger’s and autism. One assumption is that Asperger’s and autism have a common cause, and are variable expressions of the same underlying disorder.

Asperger’s syndrome is an autism spectrum disorder, and people with it show significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development. Although not required for diagnosis, physical clumsiness and atypical use of language are often reported.

High functioning autism is not an official diagnostic term, though it may be used as such. A neuropsychological profile has been proposed for Asperger’s Syndrome; if verified, it could differentiate between AS and HFA and aid in differential diagnosis.

Relative to HFA, people with AS have deficits in nonverbal skills such as visual-spatial problem solving and visual-motor coordination.  People with HFA have language delays in childhood while people with AS have stronger verbal abilities, but both groups are likely to be of average or above average intelligence.

According to an exploratory study by Erin McCanlies, a research epidemiologist from the National Institute for Occupational Safety and Health (NIOSH), and colleagues, exposure to these chemicals could play a part in causing autism. Their pilot study is published online in Springer’s Journal of Autism and Developmental Disorders.

The expert’s assessment indicated that exposures to lacquer, varnish and xylene (a solvent found in some ink, rubber, and paint thinner) occurred more often in the parents of children with Autism Spectrum Disorder (ASD) compared to the parents of unaffected children.

Parents of children with ASD were also more likely to report exposures to asphalt and solvents, compared to parents of unaffected children.

The NIOSH researchers evaluated whether parents’ exposure to chemicals at work might be associated with autism spectrum disorder in their children in a sample of 174 families — 93 of which included children with autism spectrum disorder and 81 with children experiencing typical development.

These findings bolster earlier research showing that prenatal chemical exposure could predispose kids to autism.

A 2006 study looking at air pollutants in the San Francisco Bay Area concluded that there was a potential association between autism and estimated metal concentrations, and possibly solvents, in ambient air around the birth residence but determined that these results required future studies to explore the link.

“Overall, these results add to the mounting evidence that individual exposures may be important in the development of ASD,” McCanlies says. “However, these results are preliminary and are not conclusive. Additional research is required to confirm and extend these initial findings.”

The researchers described the study as “a first pass screen from which results can be used to target future research directions.”

While consensus among mainstream autism researchers is that genetic factors predominate; environmental factors that have been claimed to contribute to autism or exacerbate its symptoms, include certain foods, infectious disease, heavy metals, solvents, diesel exhaust, PCBs, phthalates and phenols used in plastic products, pesticides, brominated flame retardants, alcohol, smoking and illicit drugs. Some of these factors have been largely disproved and others require further study – the causes of autism are still a mystery.

The NIOSH researchers concluded that further studies that employ larger sample sizes and investigate interactions between workplace exposures and genetic factors would be beneficial.

Several lines of evidence support a heritable component to ASD, although no particular ASD-predisposing gene has been confirmed to date.

The genetics of autism are complex and it is not known whether autism spectrum disorder (ASD) is explained more by multigene interactions or by rare mutations with major effects.

Early studies of twins estimated the heritability of autism to be more than 90%. However these figures are disputed due to low sample size, inconsistency in case definition, the role of de novo mutation, and the possibility that heritable causes of ASD in non-identical twins are affected by environmental factors.

A 2011 California Twin study looked at 192 twin pairs. A large and diverse study group is important when you consider that only about 1% of the population has autism and only 3.2% of the population are twins.

The study concluded that previous rates of genetic heritability were largely inflated and that susceptibility to ASD has moderate genetic heritability and a substantial shared twin environmental component.

The researchers believed that these over-inflated heritability rates from previous studies looking at only a small group had caused autism research to be largely focused on finding the underlying genetic causes, with less emphasis on potential environmental triggers or causes. The finding of significant influence of the shared environment, experiences that are common to both twin individuals, may be important for future research paradigms.

Nongenetic risk factors that may have environmental influences that the researchers pointed out include parental age, low birth weight, multiple births, and maternal infections during pregnancy.

However, a recent study by Dan Geschwind’s group at UCLA has gathered some support for the genetic mechanisms of transmission in ASD.  The team looked at instances of autism recurrence in full siblings and half siblings using information from over five thousand families from the Interactive Autism Network (IAN). The recurrence risk is the chance that a sibling has autism if another sibling does.

The recurrence rate in full siblings was found to be approximately twice that among half siblings.  While these findings point to a primarily genetic model of autism risk, other studies being released also highlight environmental influences.  Without a specific problem gene being identified the studies above provide little more than one more piece to the mystery of autism.