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in most cases after even very extensive testing no specific medical cause for the condition is found. As with autism, children who suffer from this condition are at increased risk for seizures.

evidence suggest that it arises as a result of some form of central nervous system pathology.

Childhood disintegrative disorder is perhaps 10 times less common than more strictly defined autism

Einstein researchers contend that scientific evidence directly points to the locus coeruleus–noradrenergic (LC-NA) system as being involved in autism. “The LC-NA system is the only brain system involved both in producing fever and controlling behavior,” says co-author Dominick P. Purpura, M.D., dean emeritus and distinguished professor of neuroscience at Einstein.

The locus coeruleus has widespread connections to brain regions that process sensory information.

It is also involved in a variety of complex behaviors, such as attentional focusing (the ability to concentrate attention on environmental cues relevant to the task in hand, or to switch attention from one task to another).

“What is unique about the locus coeruleus is that it activates almost all higher-order brain centers that are involved in complex cognitive tasks,” says Dr. Mehler.

Drs. Purpura and Mehler hypothesize that in autism, the LC-NA system is dysregulated by the interplay of environment, genetic, and epigenetic factors (chemical substances both within as well as outside the genome that regulate the expression of genes). They believe that stress plays a central role in dysregulation of the LC-NA system, especially in the latter stages of prenatal development when the fetal brain is particularly vulnerable.

Drs. Purpura and Mehler believe that, in autistic children, fever stimulates the LC-NA system, temporarily restoring its normal regulatory function.

the future of autism treatment probably lies in drugs that selectively target certain types of noradrenergic brain receptors or, more likely, in epigenetic therapies targeting genes of the LC-NA system.

“You can’t take a complex neuropsychiatric disease that has escaped our understanding for 50 years and in one fell swoop have a therapy that is going to reverse it — that’s folly. On the other hand, we now have clues to the neurobiology, the genetics, and the epigenetics of autism. To move forward, we need to invest more money in basic science to look at the genome and the epigenome in a more focused way.”

"Although these are early days, we think this difference in stress hormone levels could be really significant in explaining why children with AS are less able to react and cope with unexpected change,"

If these Asperger symptoms are caused primarily by stress, caregivers could learn to steer children away from situations that would add to anxiety, the researchers said.

"This study suggests that children with AS may not adjust normally to the challenge of a new environment on waking,"

The researchers, whose findings were published in the journal Psychoneuroendocrinology, will next study if this lack of cortisol upon waking also occurs in children with other types of autism.

This study documented that autistic children experience behavior changes during fever.

Einstein researchers contend that scientific evidence directly points to the locus coeruleus–noradrenergic (LC-NA) system as being involved in autism. "The LC-NA system is the only brain system involved both in producing fever and controlling behavior," says co-author Dominick P. Purpura, M.D., dean emeritus and distinguished professor of neuroscience at Einstein.

The locus coeruleus has widespread connections to brain regions that process sensory information. It secretes most of the brain's noradrenaline, a neurotransmitter that plays a key role in arousal mechanisms, such as the "fight or flight" response. It is also involved in a variety of complex behaviors, such as attentional focusing (the ability to concentrate attention on environmental cues relevant to the task in hand, or to switch attention from one task to another). Poor attentional focusing is a defining characteristic of autism.

"What is unique about the locus coeruleus is that it activates almost all higher-order brain centers that are involved in complex cognitive tasks," says Dr. Mehler.

autism, the LC-NA system is dysregulated by the interplay of environment, genetic, and epigenetic factors

They believe that stress plays a central role in dysregulation of the LC-NA system, especially in the latter stages of prenatal development when the fetal brain is particularly vulnerable.

a higher incidence of autism among children whose mothers had been exposed to hurricanes and tropical storms during pregnancy.

autistic children, fever stimulates the LC-NA system, temporarily restoring its normal regulatory function. "This could not happen if autism was caused by a lesion or some structural abnormality of the brain," says Dr. Purpura.

future of autism treatment probably lies in drugs that selectively target certain types of noradrenergic brain receptors or, more likely, in epigenetic therapies targeting genes of the LC-NA system.

If the locus coeruleus is impaired in autism, it is probably because tens or hundreds, maybe even thousands, of genes are dysregulated in subtle and complex ways," says Dr. Mehler. "The only way you can reverse this process is with epigenetic therapies, which, we are beginning to learn, have the ability to coordinate very large integrated gene networks."

"You can't take a complex neuropsychiatric disease that has escaped our understanding for 50 years and in one fell swoop have a therapy that is going to reverse it — that's folly. On the other hand, we now have clues to the neurobiology, the genetics, and the epigenetics of autism. To move forward, we need to invest more money in basic science to look at the genome and the epigenome in a more focused way."

First and foremost, children think of it as fun and learn skills by doing what they enjoy.

PRT is effective in all of the child’s environments and versatile enough to use at home, in clinical settings, in an inclusive classroom, and in the community, and parents can easily start folding PRT strategies into the child's established routine right away.

How does PRT decrease stress for parents?

Children often hate having to perform drill practices involved with other autism treatments, they feel like they are being forced to do something they don't enjoy and they react to this by causing a scene to get out of treatment.

What exactly are "pivotal responses?"

"areas that are central to wide areas of functioning such that improvements occur across a large number of behaviors." 

Once they understand the connection between using their own words and getting something they want, they will start to use words spontaneously to communicate their needs. Mastering this one pivotal behavior, motivating the child to understand the connection between their own efforts to communicate with the outcomes of their efforts, will have an enormous ripple effect on other skills.

It works because there is a motivator that makes the child want to work to accomplish the task at hand, the reward for accomplishing the task has a direct connection to it.

PRT was named by the National Research Council of the National Academy of Sciences in 2001 as one of the top 10 state-of-the-art treatments for autism in the United States.

A child who is highly motivated to communicate and is having fun doing it will learn much more rapidly than a child who is not motivated and not enjoying what they are learning.

It found several genetic variants commonly associated with ASD, all of them pointing two specific genes found on chromosome 5 which control production of proteins which help cells stick to each other, and make nervous connections.

One variant, linked to a gene called CDH10, was so common - present in over 65% of cases of autism - that the researchers calculated that fixing it would cut the number of autism cases by 15%.

They also linked ASD rather less strongly to a group of about 30 genes which produce proteins that play a key role in enabling brain cells to migrate to correct places, and to connect to neighbouring cells.

Professor Simon Baron-Cohen, an autism expert at the University of Cambridge, said 133 genes had now been linked to the condition, and much work was needed to piece together how they interacted with each other and the environment.

The National Autistic Society said the exact causes of autism were unknown. In a statement, the society said: "There is evidence to suggest that genetic factors are responsible for some forms of autism. "However, the difficulty of establishing gene involvement is compounded by the interaction of genes and by their interaction with environmental factors. "Various studies over many years have sought to identify candidate genes but so far inconclusively."

An initial retrospective study is comparing two groups of 20 children initially diagnosed with autism who were functioning well after two or more years of treatment, either with a discrete trial training approach or the DIR approach. The study aims to determine if treatment differences lead to subtle differences in outcome, for example, in terms of flexibility, emotional range, creativity and richness of the child's inner life. Investigators are planning to follow this research with a prospective, randomized, more rigorous study of the two approaches.

"In our previous studies we found out that it looks like you can't just deliver a standard treatment to autistic kids, that there's so much variability among the children that what works for one child doesn't work for another child," he says. "Our hypothesis is that...unless you individualize treatment, you're not going to get the best effect."

Researchers at the University of Maryland are testing an intervention to trigger children's "social engagement system," which includes behaviors such as listening, looking, facial expressions and vocalizations that support social interaction, says psychologist Stephen Porges, PhD. The treatment is designed to improve autistic children's ability to interact with others, thereby making them more receptive to traditional therapies.

The intervention is based on the theory that tensing the middle ear muscles enables people to pick out the human voice from lower frequency sounds in the environment, Porges says. Treatment involves exercising middle ear muscles by playing music that has been altered to include only frequencies associated with the human voice, which improves one's ability to listen to human voices. This, in turn, stimulates the entire social engagement system, Porges says. About 80 percent of 50 children with autism or other behavioral problems receiving this treatment via five 45-minute sessions in a double blind, randomized controlled study showed marked improvements in listening, language and other communication skills.

In a report last year in the Journal of Autism and Developmental Disorders (Vol. 28, No. 1, p. 15-23) evaluating an intensive home-based discrete trial training intervention, Stephen Sheinkopf, PhD, of the University of Miami and Bryna Siegel, PhD, of the University of California, San Francisco, noted that children receiving an average of only 21 hours per week of treatment showed gains in IQ comparable to those achieved by children receiving 32 hours per week. The intensity question remains an issue of importance for the autism community. "If we need 40 hours a week, fine," says psychologist Geraldine Dawson, PhD, of the University of Washington. "But if you only need 25, you have to realize that 40 hours is a tremendous burden not only financially, but on families and on the child."

Nonetheless, this incidence is about 100 times greater than the rate at which autism affects unrelated people in the population.

One study showed that the likelihood that the identical twin of an autistic child also would be autistic was 82 percent, whereas the equivalent rate for fraternal twins was only 10 percent.

With sophisticated statistical techniques and numerous twin studies, behavioral geneticists now believe that as much as 90 percent of the behavioral phenotype of autism is related to inherited genes.