A recent study published in the journal

These findings hold great promise for the future of early intervention and therapy for autism, because the strategies tested by the researchers at University of California, Irvine are affordable and easy caregivers to implement, and thus sustainable.

“Sensory-motor Enrichment Effective Therapy for Boys with Autism.” UPI. N.p., 19 May 2013. Web. 20 May 2013. <http://www.upi.com/Health_News/2013/05/19/Sensory-motor-enrichment-effective-therapy-for-boys-with-autism/UPI-94471368987668/>.

It is a well known fact that simply by taking essential vitamins and folic acid prior and especially during pregnancy, helps prevent spina bifida, neural tube defects etc. And according to a new study, folic acid may also reduce the risk of autism spectrum disorder.

Autism Birth Cohort Study, a subset of the Norwegian Mother and Child Cohort Study (MoBa), followed 85,176 babies to determine whether their mother’s use of folic acid supplements influenced an autism spectrum disorder. At the end of a follow-up period, 270 children were diagnosed with autism spectrum disorder: 114 with autistic disorder (0.13 percent), 56 with Asperger Syndrome (0.07 percent) and 100 with PDD-NOS, or pervasive developmental disorder – not otherwise specified (0.12 percent). Women who had taken folic acid supplements in early pregnancy han 40% reduced risk of having a child with autistic disorder than women who had not taken the supplement. No reduction in risk was shown for Asperger syndrome or PDD- NOS. Although the study does not establish cause – effect link, it does show association between the use of folic acid supplements and a lower risk of autistic disorder. The study is published Feb 13. in the Journal of the American Medical Association.

A different study, by Dr. Richard Frye, on the impact of a daily treatment of folic acid on ASD- related symptoms is currently being conducted.

The Hypothesis is that a folic acid will improve folate metabolism in the brain, oxidative stress and mitochondrial function in children with autism, resulting in specific health improvements for patients with autism, a discovery that would be very beneficial for the autism community.

Dr. Frye’s current proposal can potentially provide strong evidence for a folic acid intervention and will provide insight into the subgroups of children with ASD who would benefit from folic acid.  The primary goal is to improve language for those with ASD (which is measured by the receptive and expressive CELF language index). Preliminary studies have suggested that a folinic acid intervention is associated with receptive and expressive language improvements. For example, in a case-series of 44 children with ASD and the folate receptor alpha autoantibody, treatment with high-dose folinic acid (2 mg/kg/day divided twice a day; maximum dose 50mg / day) improved communication, attention, and stereotypical behavior in many children with ASD.

Folate is an essential B vitamin required for normal neurodevelopment.  Defects in folate metabolism can cause secondary physiological abnormalities, some of which have been associated with ASD.  In this study, Dr. Frye and his team aim to study several physiological mechanisms associated with folate abnormalities in children with ASD: the folate receptor alpha autoantibody that reduce folate transport across the blood-brain barrier, low glutathione redox status, mitochondrial dysfunction and genetic polymorphisms. Most importantly, ASD patients with these physiological mechanisms have shown improvement in ASD symptoms with a folic acid intervention.

The goal of the study is to extend these preliminary findings by documenting response to a folic acid intervention in a double-blind placebo-controlled manner and test whether the folic receptor alpha autoantibody titers, glutathione status, mitochondrial function and genetic polymorphisms predict response to a folic acid intervention. If any of these measures of physiological dysfunction predict response to the intervention, such titers could provide a biomarker to identify a subset of children with ASD that may benefit from a folic acid intervention and may even predict the development of ASD symptoms in high risk siblings during the presymptomatic period.

Using these biomarkers, it may be possible that children with ASD who optimally respond to the folic acid intervention can be readily identified early after diagnosis or even during the pre-symptomatic period.

The study is being conducted at the Arkansas Children’s Hospital and it has S. Jill James, PhD and Stepan Melnky, MD, PhD as co-investigators and in collaboration with Dr Edward Quadros, Ph.D. at SUNY Downstate in Brooklyn, NY.

Clarkson University neurobiologist Alisa Woods. Photo: Joanna Richards

According to the latest CDC statistics one in 88 children in America have some form of autism. Autism affects communication and social abilities.  It’s typically diagnosed when children demonstrate slower language development than other kids. A research group at Clarkson University in Potsdam is finding information that may make earlier diagnosis and intervention promising. The study at Clarkson centers on identifying biomarkers for autism. A biomarker is some part of a subject’s biology that indicates an illness, a situation that points to the existence of a particular condition.

According to neurobiologist Alisa Woods, by finding the biomarkers for autism earlier diagnosis could result, way before the child begins to demonstrate problems with language acquirement around age two.  Woods says biomarkers could also prove useful in monitoring treatments for autism, because biological changes might prove easier to track than behavioral ones, and may also emerge in advance during treatment.  Woods says recognizing biomarkers may lead to earlier diagnosis, and earlier interventions that can assist autistic children’s development.

Since the key to helping autistic children is earlier identification, she says that “Behavioral interventions can be initiated at a very early age, even before two years old,”. “So then you might start doing those interventions – and early interventions have been known for over 20 years to be more effective than later interventions.”

Alisa Woods says her research is her obligation toward advocating for early treatments for autistic children.

“I’m a big advocate of early intervention, basically because of my personal experience going through that with my son, who, you know, is on the spectrum,” Woods says. “He was treated starting at 23 months, and I just thought it was transformative. I’m just amazed at how effective it is, and I would love to see more kids treated early.”

In the study, skilled interventionists visited the homes of half of the 48 participants for 20 hours per week providing ESDM for two years. The rest of the children were provided with regular community-based intervention.

After two years of ESDM virtually 75 percent of the children in the ESDM group established cognitive processing of the faces, the Atlantic.com reported. For those children not in the ESDM group,  just 36 percent had the similar answer.

According to the CDC, the amount of children with autism has risen considerably over the last decades. Today, 1 in 88 children is diagnosed with autism, including 1 in 54 boys. says the U.S. Centers for Disease Control and Prevention. The disorder, a neurodevelopmental condition, becomes noticeable around the age of 3, showing symptoms in communication, social interactions and repetitive behaviors..

The study conducted by Yale School of Medicine Researchers in November, confirms also that early intervention is important in the improved outcome of children on the spectrum. It showed better brain function as well as advances in their abilities to communicate and behave like other children.
The team of Fred Volkmar, M.D., Kevin A. Pelphrey, have found that brains of children  with autism respond well to an early treatment method called “pivotal response treatment”, a program geared toward helping the behavior of kids with ASD. The intervention requires parental involvement, as well as “play” situations. It was published in the Journal of Autism and Developmental Disorders.

Clusters of mutations or “hotspots” are not unique to the autism genome but instead are an intrinsic characteristic of the human genome, according to principal investigator Jonathan Sebat, PhD, professor of psychiatry and cellular and molecule medicine, and chief of the Beyster Center for Molecular Genomics of Neuropsychiatric Diseases at UC San Diego.

“Our findings provide some insights into the underlying basis of autism — that, surprisingly, the genome is not shy about tinkering with its important genes” said Sebat. “To the contrary, disease-causing genes tend to be hypermutable.”

Sebat and collaborators from Rady Children’s Hospital-San Diego and BGI genome center in China sequenced the complete genomes of identical twins with autism spectrum disorder and their parents. When they compared the genomes of the twins to the genomes of their parents, the scientists identified many “germline” mutations (genetic variants that were present in both twins but not present in their mother or father).

Nearly 600 germline mutations — out of a total of 6 billion base pairs — were detected in the 10 pairs of identical twins sequenced in the study. An average of 60 mutations was detected in each child.

“The total number of mutations that we found was not surprising,” said Sebat, “it’s exactly what we would expect based on the normal human mutation rate.” What the authors did find surprising was that mutations tended to cluster in certain regions of the genome. When the scientists looked carefully at the sites of mutation, they were able to determine the reasons why some genomic regions are “hot” while other regions are cold.

“Mutability could be explained by intrinsic properties of the genome,” said UC San Diego postdoctoral researcher Jacob Michaelson, lead author of the study. “We could accurately predict the mutation rate of a gene based on the local DNA sequence and its chromatin structure, meaning the way that the DNA is packaged.”

The researchers also observed some remarkable examples of mutation clustering in an individual child, where a shower of mutations occurred all at once. “When multiple mutations occur in the same place, such an event has a greater chance of disrupting a gene,” said Michaelson.

The researchers surmised that hypermutable genes could be relevant to disease. When they predicted the mutation rates for genes, the authors found that genes that have been linked to autism were more mutable than the average gene, suggesting that some of the genetic culprits that contribute to autism are mutation hotspots.

The authors observed a similar trend for other disease genes. Genes associated with dominant disorders tended to be highly mutable, while mutation rates were lower for genes associated with complex traits.

“We plan to focus on these mutation hotspots in our future studies,” said Sebat. “Sequencing these regions in larger numbers of patients could enable us to identify more of the genetic risk factors for autism.”

http://www.sciencedaily.com/releases/2012/12/121220143516.htm

In a recent study involving the connection between mental-health related emergency room visits and children diagnosed with autism, it has been discovered that autistic children reporting to the emergency room are 9 times more likely to be suffering from a psychiatric related issue than any other health related problem. This study has brought to light that many children diagnosed with autism are not receiving the proper mental health support and treatment that is urgently needed.

The support offered by specialists, organizations, and foundations made available to individuals with autism and their families should be taken full advantage of. Researchers have discovered that the earlier a child begins treatment for autism, the more effective and beneficial it will be for the child. There are many avenues of support for autism that if utilized properly will decrease the number of issues that may arise throughout the child’s life.

Researchers conducted a study focusing on different types of insurance coverage for psychiatric emergency room visits. This study discovered that families dealing with autism that have private medical insurance were 58% more likely to report to an emergency room than families with state provided medical insurance. Currently 1 in 88 children diagnosed with ASD are paying a visit to their local emergency room for psychiatric evaluations.

These current statistics will continue to increase if support and treatment programs are not incorporated into the lives of those with autism. It is extremely important to educate yourself and your loved ones on how to handle specific emotional, mental, and physical complications that may occur throughout the lives of individuals diagnosed with autism. In addition to this, it is imperative to exercise an autistic treatment plan in order to avoid any potential issues or complications in the future.

Please refer to the full article below.

http://www.medicalnewstoday.com/releases/253550.php

The findings of this study led by Dr. Mark Weiser, of Tel Aviv University’s Sackler Faculty of Medicine, and the Sheba Medical Center; were published in the latest issue of the journal Archives of General Psychiatry. The study was carried out in collaboration with researchers at the Karolinska Institute in Sweden, the IDF Medical Corps, Kings College London and the University of North Carolina. ASD includes Autism, Pervasive Developmental Disorder (PDD) and Asperger’s Syndrome (AS), all neurobehavioral conditions which are characterized primarily by problems with behavior, communication and social skills.

In his research, Weiser and his team discovered by reviewing databases in Israel and Sweden, that ASD has a genetic link with schizophrenia. People with schizophrenic sibling’s, are 12 times more likely to have autism than those without schizophrenic genes in the family, according to the study. Bipolar disorder in a sibling, presented a similar pattern of association, but to a lesser degree.

Three data sets were used to determine the familial connection between the two conditions: one in Israel and two in Sweden.

 In Israel, the database was used under the auspices of the ethics committees, of both the IDF and Sheba Hospital and Tel HaShomer Medical Center. This information included anonymous data, involving more than one million soldiers with ASD and schizophrenia.

The same results were found in all three data sets, noted Weiser. The replication is what makes the finding so significant, and shed’s new light on the genetics of these disorders.

Elizabeth Carter from the University said the results from previous studies of behavior functions support similar conclusions about the impairment of language in children with autism.

The researchers, during the study, asked children with autism and children with typical development to identify in which of two pictures was outdoors (physical judgment) or which of two pictures a boy was being bad (social judgment).

The children with autism showed activity in fewer brain regions involving social and language networks while performing the task although both groups successfully performed the task.  The children with typical development recruited language areas of the brain while making their decisions even though language was not required for the task.

Their results support the philosophy that children with autism may recognize socially inappropriate behavior, but have difficulty expressing why the behavior is considered wrong, according to the researchers.

“These results indicate that it is important to work with these children on translating their knowledge into language”, said Carter.