The Autism News

The Autism News | English

I had always suspected something about me was different. After 40 years, a diagnosis of Asperger’s syndrome set me free.

By Christopher Wood-Robbins | Boston Globe

On April 13, 2007, at Beth Israel Deaconess Medical Center, I found my Holy Grail. All my life I had sought answers as to why I had trouble getting along with the rest of the world and why I acted the way I did. But thanks to a stranger’s suggestion, and a neuropsychologist, I finally received a simple, straight answer. I was told, at age 41, that I have a form of autism called Asperger’s syndrome.

Most of the characteristics of Asperger’s syndrome fit me perfectly: the difficulties with social interaction; my narrow, intense interests; and my need to learn, through clear, logical instruction, what everybody else learns intuitively. This newfound knowledge had me thinking back to the peculiarities of my childhood, when I often felt as if I were living in a different galaxy.

I wanted to be friends with a girl in third grade who reminded me of a gypsy enchantress. The problem was I didn’t recognize that hanging around her beyond a certain amount of time (i.e., following her around) made her uncomfortable. Other kids taunted me at recess and threw dodge balls at my head (and it wasn’t during a game). I would skip down the hallways to my next class and not understand why everyone else thought it was strange. In general, I didn’t know what to do in social situations. In fact, I didn’t even realize that you were supposed to do anything in particular.

While all “Aspies” encounter different situations, many of the difficulties are the same. Today I find it hard (sometimes impossible) to describe a situation in person or to put my thoughts and feelings into the proper words. Thinking back on my life, and armed now with information on Asperger’s, I can understand more of what used to confuse me. My problems can be traced to many different factors, but all of them are consistent with Asperger’s. Take my rigidness, for example. I work in a seafood processing plant, and sometimes it grates on my nerves when I’m stocking shelves in my company’s freezer and I’m suddenly called on to do a different task, such as load food product into the pack room. If you can imagine driving a locomotive, then being ordered to immediately stop and pull every car in your train off the track and go across town to put it all on another track, you might have an idea of what it’s like to have Asperger’s.

Another bugbear that people with Asperger’s struggle with is our “lack of empathy.” By that, I don’t mean that we don’t care about anyone but ourselves. What I’m talking about is the fact that, because of our neurological “mind-blindness,” we’re not always able to sense (in the same manner that most non-autistic, or “neurotypical,” people can) when something we’re doing is upsetting other people.

In 2006, after years of abject struggle through the social landscape, a path was finally cleared. I was at a poetry reading the night before Easter, and a young woman named Ria walked in. At the end of the reading, she asked for my e-mail address. The next day, she sent me a message: “You really come off as if you have Asperger’s syndrome.” Another person might have been offended, but after everything I’d been through, it was a revelation. I did some research and decided her suggestion made sense. A year later, when I was able to get health care, I made an appointment at Beth Israel. After some testing, my doctor confirmed what I’d long suspected: that something about me was different.

I told the doctor that, for my first act as a confirmed Aspie, I “forgive all neurotypicals that ever did me any wrong.” I cannot blame people for not knowing about this kind of disorder. And even if they do know about it, I forgive them if they don’t care. It’s human nature: The only time you really care about somebody’s cross is when you have to carry it yourself.

Now that I can finally put a name to my troubles, I feel reborn. I still have much to learn — about my condition and about dealing with the outside world. I’m only now beginning this journey of enlightenment. If you can try to understand why I function the way I do, then I will do my best to learn the proper way to do things on the neurotypical side of the fence. In other words, I’ll meet you halfway.

Source: http://www.boston.com/bostonglobe/magazine/articles/2009/10/04/connecting_the_dots/

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The Autism News English Asperger’s syndrome, autism, autistic, Beth Israel Deaconess Medical Center

The Autism News | English

By Times of India

Scientists at Beth Israel Deaconess Medical Center (BIDMC) say that a form of partial epilepsy, which is associated with auditory and other sensory hallucinations, may result from the disruption of brain development during early childhood.

The researchers claim that their findings provide the first genetic link between childhood brain development and a seizure disorder that lasts throughout adulthood, and also identify a new pathway that controls how neuron circuits are “pruned” and matured.

“During early childhood – roughly between the ages of one and five – the brain undergoes a period of major circuit remodeling,” Nature magazine quoted senior author Dr. Matthew Anderson, a principal investigator in the Departments of Neurology and Pathology at BIDMC, as saying.

“Our discovery that a familial form of temporal lobe epilepsy can develop at this point demonstrates the fragility of the brain during this critical period,” he added.

In their study report, the researchers have revealed that their findings focus on the development of synapses, the connections between brain cells.

“At birth, the brain is loaded with excitatory synapses which help make nerve cells ‘fire,’” says Anderson, who is also an Assistant Professor of Neurology and Pathology at Harvard Medical School. “However, if these excess synapses are not adequately ‘pruned,’ they can overgrow, leading to excessive transmission of excitatory signals and the development of pathological conditions, including learning disabilities and autism in addition to epilepsy,” he adds.

Anderson has revealed that his study involved a genetically engineered mouse model, and and brain slice patch-clamp electrophysiology techniques.

He said that his team found that a mutant form of the LGI1 (leucine-rich glioma-inactivated 1) gene was preventing the normal brain development.

“The first clue was our discovery that LGI1 is not expressed until the exact time when excitatory synapses are matured. We subsequently learned that the mLGI1 gene was indeed prohibiting excitatory synapses from being adequately pruned, leading to an increased excitability of circuits in the brain which left it prone to excessive synchronous discharges that are characteristic of epilepsy,” said Anderson.

Autosomal dominant lateral temporal lobe epilepsy (ADLTE) is characterized by frequent partial seizures—two to five per month—that are associated with auditory or other sensory auras. Tonic-clonic seizures also occur in the majority of ADLTE patients, but are infrequent, developing only about once a year.

“These partial seizures can have a significant impact on a patient’s quality of life. Because patients can be disoriented and excessively tired following a seizure event, their day-to-day lives can sometimes be seriously disrupted. And when it comes to driving and other activities, there is still a real danger associated with this condition,” notes Anderson.

“One important reason to identify genetic causes of epilepsy is the hope that these discoveries will eventually lead to new therapies. By identifying this new pathway, we may have found a new target for future drug development,” he adds.

A research article describing Anderson’s study has been published in the journal Nature Medicine.

Source: http://timesofindia.indiatimes.com/life-style/health-fitness/health/Epilepsy-linked-to-disruption-of-brain-development/articleshow/4928534.cms

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The Autism News English Beth Israel Deaconess Medical Center, disruption of brain development, Epilepsy, journal Nature Medicine, scientists

The Autism News | English

Method may pave way for treatment

By Carolyn Y. Johnson | The Boston Globe

Scientists are trying a new approach to unravel the workings of the autistic brain: the neurological equivalent of banging a patient’s knee with a hammer to test reflexes.

Instead of a hammer, though, researchers are pressing a flat paddle against patients’ heads and creating a magnetic field that triggers brain cell activity.

As the quest to understand autism has grown more urgent, researchers have used brain scanners to peer into autistic minds, searched for faulty genes, and scrutinized the play of 1-year-olds.

The work has provided theories – but few concrete answers – about what goes awry to cause social isolation, repetitive behaviors, and communication problems that afflict an estimated one in 150 children with autism spectrum disorders. The hunt has focused on everything from “mirror neurons,” brain cells some re searchers think enable people to understand other’s actions and intentions, to an overgrowth of local connections in the brain.

Now a small but growing number of researchers see hope in a tool called transcranial magnetic stimulation, which lets scientists spark activity in specific areas of the brain and watch what happens to patients’ behavior. The technology may illuminate some of the biology behind the disease, and some specialists speculate it may one day offer a treatment.

“There’s a lot of mystery about autism – it’s not as if there’s a well-understood story of what’s going on at all, and there’s a huge variety of autism, too,” said John Gabrieli, a neuroscientist at Massachusetts Institute of Technology. Transcranial magnetic stimulation “is fantastic for identifying brain regions that are essential for specific mental functions. . . . I think if we can start to use it more systematically with autism, one could hope we’d understand a lot more about what’s going on.”

Gabrieli said he hopes to team up with researchers at Beth Israel Deaconess Medical Center who are already getting preliminary results with the technology, finding that autistic brains appear to be more malleable than those of other people.

Researchers at the Boston hospital’s Berenson-Allen Center for Noninvasive Brain Stimulation used rapid, repetitive stimulation to simulate what happens in the brain when people learn a new task. Then they gave a single pulse of stimulation and measured minute muscle twitches that told them how long people’s brains maintained connections formed by the initial stimulation.

In people with no evidence of autism, changes lasted about 30 minutes, on average. But in people on the autism spectrum, the initial stimulation caused brain changes that lasted much longer – on average an hour and a half.

“As they’re going through their world, their brains are changing their circuits much more and much longer,” said Lindsay Oberman, a postdoctoral researcher at Beth Israel Deaconess. “They’re making connections, just not breaking them at the same rate as normal people.”

That suggests to Oberman that important cognitive processes may be getting stuck on labyrinthine side roads.

Researchers in the laboratory are also investigating whether stimulating a specific area of the brain improves language skills.

John Elder Robison, 51, said he decided to participate in the experiments because it wasn’t until he reached adulthood that he was diagnosed with Asperger syndrome, a disease on the autism spectrum.

“I have a strong desire to do this to benefit people like me,” Robison said. “I knew how much I had struggled as a young person – not knowing, being called ‘retard’ or ‘freak.’ This might help young people.”

Use of transcranial magnetic stimulation to investigate autism is in its early days, but the technology is well-established. In the noninvasive procedure, a current travels through two loops in a figure-eight-shaped paddle, creating a changing magnetic field. The paddle is pressed against the patient’s head, and the changing field induces an electrical current in brain tissue.

Transcranial magnetic stimulation was approved by the US Food and Drug Administration as a depression treatment last fall. The main side effect is a risk of seizure, but the risk is low, researchers say, because years of research have provided insight into how to use the technology safely.

While such stimulation may turn out to be a useful tool in autism research, Michael Merzenich, emeritus professor at the University of California at San Francisco, cautioned that a limitation of the technology may be that so much has gone wrong in the autistic brain.

“Virtually any way you would probe it in detail, you’d quickly reveal abnormalities,” Merzenich said. “My question is, if I start poking around . . . it’s a pretty complex, multivariable mess that I’m poking. How likely is it that’s going to lead to great insight?”

Dr. Manuel Casanova, a neuroscientist at the University of Louisville, began using the technique on patients a few years ago.

Casanova was interested in groups of brain cells called minicolumns, which are abnormally small in autistic people and seem to lack what he calls an inhibitory “shower curtain” that prevents activity from spilling into the rest of the brain. His idea was to boost the shower curtain using the stimulation.

Casanova reported last year in the Journal of Autism and Developmental Disorders that when he used repetitive stimulation on 13 high-functioning people with autism spectrum disorder, the treatment seemed to improve synchronization between brain regions. The patients were also able to sit still longer, follow directions better, and reduce repetitive behaviors.

Initially, he paid for the research out of his own pocket, but last week he received gratifying validation – a grant from the National Institutes of Health to support his work over the next four years.

Dr. Marco Iacoboni, a psychiatry professor at the University of California at Los Angeles, recently submitted a grant proposing a study using the technique. He would like to use it to inhibit activity in a part of the brain that may be suppressing the activity of “mirror neurons” – brain cells that appear to be active both when a person moves and when the person watches someone move.

Robison, the Asperger patient, said he believes some of the experiments at Beth Israel Deaconess have helped him, and Oberman and colleagues have been encouraged by their attempts to use the tool as a treatment. But researchers embracing the tool also urge caution.

“These are just the very first steps – it’s the first man on the moon just collecting rocks and looking at the composition of the rocks,” Iacoboni said. “There is a very strong rationale for doing this; that’s why it’s promising. But people shouldn’t hope we’ve found anything yet.”

Source:  http://www.boston.com/news/local/massachusetts/articles/2009/06/08/magnetic_stimulation_helps_researchers_trigger_responses_in_autistic_brain/

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The Autism News English autism, autistic, Beth Israel Deaconess Medical Center, brain cell activity, English, John Gabrieli, Magnetic fields, Massachusetts Institute of Technology, neurological, neuroscientist, new approach, scientists, test reflexes, the Boston hospital's Berenson-Allen Center for Noninvasive Brain Stimulation