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Autism Spectrum Disorders, Schizophrenia Genes Tied to Environment
By Janis Esch thirdage.com
A representative gene showing how sex can influence levels of methylation across the lifespan. Each dot represents a different brain. (Credit: Barbara Lipska, Ph.D., NIMH Clinical Brain Disorders Branch)
Genes linked to schizophrenia and autism spectrum disorders are members of a select club of genes regulated during environmentally sensitive times, U.S. researchers said.
Researchers at the National Institute of Health said a regulatory mechanism that turns genes on and off in the brain's executive hub are among the most environmentally responsive.
The mechanism, called DNA methylation -- a biochemical process that is important for normal development in higher organisms -- abruptly switches from off to on within the human brain's prefrontal cortex during this pivotal transition from fetal to post-natal life. As methylation increases, gene expression slows down after birth.
This mechanism leaves chemical instructions that tell genes what proteins to make -- what kind of tissue to produce or what functions to activate.
Although not part of DNA, these instructions are inherited from a child's parents, but they are also influenced by environmental factors, allowing for change throughout the lifespan, the study said.
"Developmental brain disorders may be traceable to altered methylation of genes early in life," lead author Barbara Lipska, a scientist in the NIH's National Institute of Mental Health said in a statement. "For example, genes that code for the enzymes that carry out methylation have been implicated in schizophrenia. In the prenatal brain, these genes help to shape developing circuitry for learning, memory and other executive functions which become disturbed in the disorders."
The study, published in the American Journal of Human Genetics, found methylation in a family of these genes changes dramatically during the transition from fetal to post-natal life and that this process is influenced by methylation itself, as well as genetic variability.
"Regulation of these genes may be particularly sensitive to environmental influences during this critical early life period," Lipska said.
See more detailed report below on the same subject. -ed
Gene Regulator in Brain's Executive Hub Tracked Across Lifespan
ScienceDaily — For the first time, scientists have tracked the activity, across the lifespan, of an environmentally responsive regulatory mechanism that turns genes on and off in the brain's executive hub. Among key findings of the study by National Institutes of Health scientists: genes implicated in schizophrenia and autism turn out to be members of a select club of genes in which regulatory activity peaks during an environmentally-sensitive critical period in development. The mechanism, called DNA methylation, abruptly switches from off to on within the human brain's prefrontal cortex during this pivotal transition from fetal to postnatal life. As methylation increases, gene expression slows down after birth.
Epigenetic mechanisms like methylation leave chemical instructions that tell genes what proteins to make -- what kind of tissue to produce or what functions to activate. Although not part of our DNA, these instructions are inherited from our parents. But they are also influenced by environmental factors, allowing for change throughout the lifespan.
"Developmental brain disorders may be traceable to altered methylation of genes early in life," explained Barbara Lipska, Ph.D., a scientist in the NIH's National Institute of Mental Health (NIMH) and lead author of the study. "For example, genes that code for the enzymes that carry out methylation have been implicated in schizophrenia. In the prenatal brain, these genes help to shape developing circuitry for learning, memory and other executive functions which become disturbed in the disorders. Our study reveals that methylation in a family of these genes changes dramatically during the transition from fetal to postnatal life -- and that this process is influenced by methylation itself, as well as genetic variability. Regulation of these genes may be particularly sensitive to environmental influences during this critical early life period."
Lipska and colleagues report on the ebb and flow of the human prefrontal cortex's (PFC) epigenome across the lifespan, February 2, 2012, online in the American Journal of Human Genetics.
"This new study reminds us that genetic sequence is only part of the story of development. Epigenetics links nurture and nature, showing us when and where the environment can influence how the genetic sequence is read," said NIMH director Thomas R. Insel, M.D.
In a companion study published last October, the NIMH researchers traced expression of gene products in the PFC across the lifespan. The current study instead examined methylation at 27,000 sites within PFC genes that regulate such expression. Both studies examined post-mortem brains of non-psychiatrically impaired individuals ranging in age from two weeks after conception to 80 years old.
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Enhanced Cortisol Response to Stress in Children in Autism
Eve G. Spratt,(1) Joyce S. Nicholas,(1) Kathleen T. Brady,(1) Laura A. Carpenter,(1) Charles R. Hatcher,(1) Kirk A. Meekins,(1) Richard W. Furlanetto,(2) and Jane M. Charles(1) (1) Medical University of South Carolina, 135 Rutledge Avenue, PO Box 250561, Charleston, SC 29425-5671, USA (2) Nichols Institute-Quest Diagnostics, Chantilly, VA 20151, USA Corresponding author: Eve G. Spratt ; Email: firstname.lastname@example.org The publisher's final edited version of this article is available at J Autism Dev Disord
J Autism Dev Disord. Author manuscript; available in PMC 2012 January 1. Published in final edited form as: J Autism Dev Disord. 2012 January; 42(1): 75-81. doi: 10.1007/s10803-011-1214-0
Children with Autism often show difficulties in adapting to change. Previous studies of cortisol, a neurobiologic stress hormone reflecting hypothalamic-pituitary-adrenal (HPA) axis activity, in children with autism have demonstrated variable results. This study measured cortisol levels in children with and without Autism: (1) at rest; (2) in a novel environment; and (3) in response to a blood draw stressor. A significantly higher serum cortisol response was found in the group of children with autism. Analysis showed significantly higher peak cortisol levels and prolonged duration and recovery of cortisol elevation following the blood-stick stressor in children with autism. This study suggests increased reactivity of the HPA axis to stress and novel stimuli in children with autism.
• • •
Study Finds Jolt To The Brain Boosts Memory
Although the study of deep brain stimulation is very limited and preliminary, researchers hope the finding could lead to treatment of diseases such as Alzheimer's.
The arrow on this MRI of a brain shows areas where researchers applied electrical stimulation. (UCLA/Fried Lab / February 8, 2021)
By Melissa Healy, Los Angeles Times
In an experiment likely to raise new hopes for those with memory-robbing diseases such as Alzheimer's, researchers have found that sending an electrical jolt to a part of the brain that plays a key role in memory improved people's ability to learn — and remember — their way across an unfamiliar landscape.
The study, conducted at UCLA and published in Thursday's edition of the New England Journal of Medicine, was small and highly preliminary, involving just seven patients with epilepsy. But deep brain stimulation helped all seven subjects — including some who suffered memory impairment— navigate faster and more accurately through a virtual town.
FOR THE RECORD: This story says deep brain stimulation is being used for patients with epilepsy, and that the subjects of the study were candidates for the treatment. It should have said that the technique is being used only experimentally with epilepsy patients, and that the study subjects were not undergoing the treatment but were being prepared for surgery.
Since the treatment also gave a boost to subjects with no signs of dementia, the study is likely to reignite a simmering debate over the ethics of enhancing the mental capacities of people in perfect cognitive health, experts said.
The new results build on animal studies that found deep brain stimulation not only boosted activity in the brain's memory centers, but spurred the growth of new brain cells when those regions were damaged. The fact that the same technique improved memory performance in humans makes some researchers optimistic that it might be a way to block or reverse the destruction of brain cells in patients with Alzheimer's.
Though physicians are now able to diagnosis Alzheimer's disease earlier than ever — sometimes years before memory lapses and other cognitive changes become evident — they are still at a loss to alter the disease's progress.
Deep brain stimulation involves the insertion of guide wires through the skull and into the brain, where they deliver electrical current to clusters of neurons that no longer function properly. It is widely used in the treatment of Parkinson's disease, in which damage to regions of the brain's motor cortex cause tremors, rigidity and unsteady gait. About 90,000 Americans have had the battery-powered, stopwatch-sized devices implanted in their brains, and they often show marked improvement. But the neurostimulator has not been found to slow or block the progression of that disease.
The technique is also being used for patients with epilepsy, to disrupt the storm of electrical current in the brain that causes seizures. The patients who took part in the memory trial were candidates for this treatment, and in preparation for surgery they had electrical probes inserted in their brains — giving researchers the opportunity to conduct their experiment.
The goal was to explore whether stimulation to two key memory regions of the brain would deliver improvement in cognition. With their heads immobilized, the patients had electrodes placed in their brains. Then they played a virtual game of taxi driver, learning their way through an imaginary town in order to reach six destinations.
While navigating the new landscape, the subjects sometimes got deep brain stimulation to one of two areas — the hippocampus or an adjacent structure called the entorhinal cortex — and other times got no neurostimulation at all.
The researchers found that when subjects' entorhinal region was stimulated while they navigated through the maze for the first time, they were speedier and more accurate in learning the way to certain destinations than when they explored a similar maze without stimulation.
For instance, subjects outlined routes to stores that were 64% shorter, on average, when the entorhinal cortex was stimulated compared with when it was not. When electrodes delivered stimulation directly to the hippocampus, some subjects improved their performance while others got worse.
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• • •
Chelation Therapy Trial Continued Despite Risks
By Trine Tsouderos, Chicago Tribune
With $30 million of taxpayer money, researchers set out to conduct one of the largest studies ever of an alternative medical treatment. The question: Does intravenous chelation therapy to expel metals from the body improve symptoms of coronary artery disease? The Trial to Assess Chelation Therapy was designed to test a remedy that has been used by tens of thousands of Americans. TACT had the support of a powerful congressman and funding from two branches of the National Institutes of Health. One of them, the National Center for Complementary and Alternative Medicine, was leading the project.
But the trial was marred by problems from the start.
The scientific foundation for chelation was weak, based on decades-old ideas about plaque in the arteries that have never been proved. The treatment was so out of step with mainstream medicine that it was difficult to recruit patients willing to take part. Researchers made confusing statements about the drug being tested, giving volunteers the false impression that it was safer than it was. Several doctors involved in the trial ran into disciplinary problems, and two were convicted of crimes.
Perhaps most troubling: The drug, edetate disodium, turned out to be so risky that theU.S. Food and Drug Administration withdrew its approval. Yet the study was not halted, and the volunteers were not immediately told.
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The Three R's To Bullying Prevention for Students with Autism Spectrum Disorders:
Recognize, Respond, and Report
Free Online Webinar Series
Presentation by AAPC Author Dr. Lori Ernsperger
How to Attend: Register for this webinar by following this link .
For More Information: Follow this link .
Dr. Ernsperger will provide research and specific strategies in order for parents and professionals to create a safe educational environment and follow the legal requirements set out by the federal government on bullying prevention for students with disabilities. The webinar will be interactive. There will be an opportunity for those signed up to send in questions ahead of time or while listening to the program. The learning objectives of Dr. Ernsperger's presentation are: Recognize the statistics of bullying Recognize the warning signs of victims and stereotypes of bullies Respond to the victims of bullies Respond to bullies effectively Teach anti-bullying social skills Report bullying incidence in school settings
Dr. Lori Ernsperger is from Henderson, NV where she is the owner of Autism and Behavioral Consulting. Dr. Lori received her doctorate in Special Education from Indiana University and has more than 25 years of experience working in public schools as a classroom teacher, administrator, and behavioral consultant. She is also an adjunct professor at St. Petersburg College in Florida. Dr. Ernsperger currently provides staff development and conference workshops to school district personnel and parents. Her workshops cover the following topics: Managing Problem Behaviors, Implementing Effective Instructional Methods, Designing Appropriate and Functional Data Collection Methods for the Classroom, Practical Strategies for Working with Individuals with Asperger Syndrome, and How to Get Your Kids to Eat.
• • •
3-D Technology Helps Autistic Kids Learn To Read
By Walter Pacheco, Orlando Sentinel
A menagerie of virtual 3-D animals that swim, eat bugs and fly are building crucial reading skills in autistic children at Audubon Park Elementary in Orlando.
Four-year-old Christopher Gómez lined up a set of specialized word and animal cards, including one with the letter 'I' and a picture of an iguana under a camera to compose the sentence, "The iguana can eat."
Christopher shifted his eyes toward a projection screen, smiled and said, "I like the iguana!" as the reptile appeared to pop off the card and onto the screen to eat an insect. A woman's voice simultaneously spoke the sentence displayed above the screen.
Teachers at the Baldwin Park public school say "Letters alive," software that combines interactive 3-D technology with sounds, words and realistic animal actions, is helping the school's 50 autistic children overcome the challenges they encounter when learning to read.
"A static image has little meaning to Christopher, but a three-dimensional image that interacts with him through movement and sound makes a lasting impression because it becomes functional," said Mary-Elizabeth Langston, Audubon Park's primary special education teacher. "I hear the children throughout the day repeating the sounds they learned."
Audubon Park is the first school in the nation to test the preschool and kindergarten program developed by Logical Choice Technologies, an educational firm based in Georgia.
The program costs $995 and contains the software, a document camera, 26 alphabet cards illustrated with animals and a set of 94 flash cards with common pronouns, adjectives, adverbs, prepositions, conjunctions and verbs necessary for developing reading skills before a child enters the second grade.
When the animal and word cards are joined in a sentence under the camera, the animals perform the actions, but only if that particular creature is capable of such movement. For example, in the sentence, "The giraffe can fly," the 3-D giraffe will shake its head from left to right to show it cannot do it.
"Students learn what these actions mean, how they are performed, and how they are spelled based on real animals in their natural habitat," said Audra Cervi, the school's reading resource teacher.
The user can also flip the animal card to show all sides of the creature. If the teacher presses a colored tab on the card, a 3-D letter replaces the animal. Teachers can show students all sides of the letter. These features appeal especially to autistic students who focus more on visuals as they learn language.
Teachers at Audubon Park, which acquired the program in October, said so far there has been no measurable improvement in their students' skills. But Langston said students are more socially engaged since they launched the technology.
"We're starting to see the difference in how they form sounds and words," she said. "I've noticed more eye contact with others, and there's a willingness to learn that we had not seen before."
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• • •
Autistic Boy Wanders From School, Elementary Didn't Notice
Chellie Mills Reporting KFOR-TV
Oklahoma City -- A metro family is upset with Oklahoma City Public Schools after a kindergartner with autism walks home from school in the middle of the afternoon. It was about an hour before school got out on Friday, 6-year-old Trevor, who has autism, walked away from Oakridge Elementary School in Southeast Oklahoma City.
He made his way through the neighborhood to his house.
When the family contacted the school to let them know he had made it home, they say no one even knew he was even missing.
Trevorâ€™s aunt, Tamera Pelts, says, "He's autistic. He wears braces on his feet. He can't communicate with people to say, 'Hey, I'm going home.'"
Pelts is angry.
She says, "They didn't know he was missing until we went up there."
Tierney Tinnin with Oklahoma City Public Schools says, "It is a scary situation and we regret that it happened. We want parents to know we apologize for it."
Trevor had gone down the hall to pick up a backpack with three other students when he walked out of the school and made his way home.
School officials say they did notice he was gone.
Tinnin says, "Just as they were starting to look and realized he was gone was when the grandmother called."
Part of Tamera's concern is the path he takes to get home from Oakridge Elementary.
Alone, Trevor crossed a couple of busy streets and a bridge.
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• • •
Employment: Autism and Driving
From the National Conference on Autism & Employment newsletter.
Transportation is a significant secondary factor in autism employment and one which has received limited attention (although the folks at Rutgers University hosted a conference on the topic last April).
The January 2012 issue of Journal of Developmental & Behavioral Pediatrics carried an article titled "Factors Associated with Driving in Teens with Autism Spectrum Disorders", by a research team based at the Center for Injury Research & Prevention at the Children's Hospital of Philadelphia. Disability Scoop had some of the best coverage of the article.
In summary, the article surveyed the parents of 248 young adults with "higher functioning autism spectrum disorders" contacted through the Interactive Autism Network. Approximately one third were driving and another third planned to drive later on. Of those who were driving, rates for crashes and driving tickets were about half those of equivalent neurotypical teens. Factors linked with driving skills included work experience, plans to attend college, parents who had experience teaching other teens to drive, and inclusion of driving skills in the IEP.
• • •
New DSM Is "Dangerous" Say Experts
By Kate Kelland, Reuters
Millions of healthy people - including shy or defiant children, grieving relatives and people with fetishes - may be wrongly labelled mentally ill by a new international diagnostic manual, specialists said on Thursday.
In a damning analysis of an upcoming revision of the influential Diagnostic and Statistical Manual of Mental Disorders (DSM), psychologists, psychiatrists and other experts said new categories of mental illness identified in the book were at best "silly" and at worst "worrying and dangerous".
"Many people who are shy, bereaved, eccentric, or have unconventional romantic lives will suddenly find themselves labelled as mentally ill," said Peter Kinderman, head of Liverpool University's Institute of Psychology at a briefing in London about widespread concerns over the manual.
"It's not humane, it's not scientific, and it won't help decide what help a person needs."
The DSM is published by the American Psychiatric Association (APA) and has symptoms and other criteria for diagnosing mental disorders. It is used internationally and seen as the diagnostic "bible" for mental health medicine.
No one from the APA was immediately available for comment.
More than 11,000 health professionals have already signed a petition calling for the development of the fifth edition of the manual to be halted and re-thought.
Some diagnoses - for conditions like "oppositional defiant disorder" and "apathy syndrome" - risk devaluing the seriousness of mental illness and medicalising behaviours most people would consider normal or just mildly eccentric, the experts said.
At the other end of the spectrum, the new DSM, due out next year, could give medical diagnoses for serial rapists and sex abusers - under labels like "paraphilic coercive disorder" - and may allow offenders to escape prison by providing what could be seen as an excuse for their behaviour, they added.
RADICAL, RECKLESS, AND INHUMANE Simon Wessely of the Institute of Psychiatry at King's College London said a look back at history should make health experts ask themselves: "Do we need all these labels?"
He said the 1840 Census of the United States included just one category for mental disorder, but by 1917 the APA was already recognising 59. That rose to 128 in 1959, to 227 in 1980, and again to around 350 disorders in the fastest revisions of DSM in 1994 and 2000.
Allen Frances of Duke University and chair of the committee that oversaw the previous DSM revision, said DSM-5 would "radically and recklessly expand the boundaries of psychiatry" and result in the "medicalisation of normality, individual difference, and criminality".
David Pilgrim of Britain's University of Central Lancashire said it was "hard to avoid the conclusion that DSM-5 will help the interests of the drug companies".
"Madness and misery exist but they come in many shapes and sizes," he said. "We risk treating the experience and conduct of people as if they are botanical specimens waiting to be identified and categorised in rigid boxes.
"That would itself be a form of collective madness for all those complicit in the continuing pseudo-scientific exercise."
Nick Craddock of Cardiff University's department of psychological medicine and neurology, who also spoke at the London briefing, cited depression as a key example of where DSM's broad categories were going wrong.
Whereas in previous editions, a person who had recently lost a loved one and was suffering low moods would be seen as experiencing a normal human reaction to bereavement, the new DSM criteria would ignore the death, look only at the symptoms, and class the person as having a depressive illness.
Other examples of diagnoses cited by experts as problematic included "gambling disorder", "internet addiction disorder" and "oppositional defiant disorder" - a condition in which a child "actively refuses to comply with majority's requests" and "performs deliberate actions to annoy others".
"That basically means children who say 'no' to their parents more than a certain number of times," Kinderman said. "On that criteria, many of us would have to say our children are mentally ill."
Note: The opinions expressed in COMMENTARY are those of the author and do not necessarily represent the views of the Schafer Autism Report.
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