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7-year-old twins Tristan and Tyler Waldner, there are no strangers. The
boys have an genetic condition called the Williams syndrome which makes
them unusually social.
Scientists think that this may be the key to understanding autism:
Williams syndrome is the perfect test case for studying the link between genes and behavior, Bellugi said. The disorder is very specific, occurring only when a certain cluster of genes is missing from one of two copies of chromosome 7.
“We’re only talking about something like 25 to 28 genes out of 30,000 genes in the brain,” Bellugi said. “And it’s always the same set of genes.”
That genetic deletion creates a well-defined but diverse set of characteristics. People with Williams syndrome have distinctive facial features, often described as “elfin,” including small, upturned noses, wide mouths and lips, a longer span between nose and upper lip and tiny, widely spaced teeth. They often suffer from heart, skeletal and dental problems.
Those with Williams syndrome have a distinctive pattern of intellectual peaks and valleys, including low IQs, developmental delays and learning disabilities, all coupled with rich, imaginative capacity for language — and those exuberantly social personalities.
“The behavior is quite consistent,” Bellugi says. “In terms of their social interest, their social drive, attraction to strangers, looking at faces, looking more intently at faces. We have this kind of social phenotype that we’ve been studying.”
Read more from Today Health: Link
Imagine glasses that can read body language and offer suggestions about how you should respond, or goggles which can scan faces and call up criminal databases to find a real time match. These snazzy high tech specs aren’t just science fiction props anymore, and researchers at the Massachusetts Institute of Technology are sure that their “social x-ray specs” are going to find a multitude of uses in society, from communicating more effectively with Autistic people to becoming human lie detectors and much more. Read all about it at NewScientist.
(image courtesy of Ryan Heuser via Wikimedia Commons)
Scientists at Vrije University in Brussels, Belgium have developed a robot that looks like a cartoon elephant. Probo has fully articulate features and a flexible trunk that can display a variety of responses and emotions. It was designed as a therapy aid for autistic children. Probo is being tested now at Babes-Bolyai University in Cluj, Romania, where the team has reportedly achieved some remarkable results so far in interactions with autistic children. Link to story. Link to robot website. -via Arbroath
Popular Science has an article describing medical treatments for four diseases that could be available to the general public in a few years. One is an effort to reverse autism:
While studying mice, he learned that the disease allows a neuron’s mGluR5 receptor to send out a flurry of signals telling the cell to produce protein. The protein overload causes a neuron to form many more connections to other neurons than normal, creating chaos by spreading nerve instructions to too many cells. Bear’s drug, called STX107, inhibits the receptors to pare back the overproduction of proteins associated with Fragile X to a normal range. His company, Seaside Therapeutics, plans to test STX107 in patients this fall. If it works as well as it did in mice, Bear says, it could be a first step to treating other causes of autism.[...]
Fragile X neurons lack the ability to mute messages from the mGluR5 receptor, leading to an overproduction of protein. STX107 binds to the receptor, dampens its productivity, and slows protein production to a normal rate.
The other innovative treatments are for patients of Leber’s congenital amaurosis, persistent vegetative state, and brain tumors.
Link | Image: John MacNeill
Winston in southern Oregon is where many tourists stop on their journeys north and south along Interstate 5; it’s where Wildlife Safari is. Recently the park acquired some help in the form of Wylie Malek, an autistic young boy people are calling a “natural elephant man.” It seems he’s bonded with the gentle giants, and has had breakthroughs of his own.
The young man’s communication skills have improved through the interactions, his father said, both with the adults at Wildlife Safari and with kids in his classes at Green Elementary. Sometimes it is hard to get the otherwise reserved boy to stop talking about the elephants, his father said. When he recites for the fifth time how much an elephant can eat, his family has to change the subject, Kris Malek joked.
Link | via The Obscure Store and Reading Room | Photo Credit: Robin Loznak
An autistic Canadian second-grader has created a meme that has traveled to Antarctica, where scientists in a British research facility have posted the image and declared it to be “official policy in Antarctica.”
In October, [Michelle Chipman] was walking down the hall when she kicked an inflatable penguin — which had been won at the Regatta — out of her way. Seven-year-old Colby… promptly advised her that kicking penguins was prohibited. He left the room for a minute, returned requesting Scotch Tape and then posted a hand-drawn sign — a woman kicking a penguin, in a circle with a diagonal line through it (as in a No Smoking sign). Written around the image was the decree Colby had issued earlier — “No kicking penguins.”
The popularity of the sign and the message has resulted in the creation of t-shirts, proceeds from the sale of which are being used for the benefit of autism societies.
“J” is an autistic child who also has post-surgical and bowel-related chronic pain. His autism manifested itself as aggression rather than simple withdrawal, resulting in severe behavioral problems. Authorities in Rhode Island granted the parents a license to give their child medical marijuana (they opted to do so in the form of brownies). The results were dramatic:
Pre-pot, J. ate things that weren’t food… His pica become so uncontrollable we couldn’t let him sleep with a pajama top (it would be gone by morning) or a pillow (ditto the case and the stuffing)… The worst part was watching him scream in pain on the toilet, when what went in had to come out… Almost immediately after we started the cannabis, the pica stopped. Just stopped. J. now sleeps with his organic wool-and-cotton, hypoallergenic, temptingly chewable comforter.
Next, we started seeing changes in J.’s school reports… An aggression is defined as any attempt or instance of hitting, kicking, biting, or pinching another person. For the past year, he’d consistently had 30 to 50 aggressions in a school day, with a one-time high of 300. The charts for June through July, by contrast, showed he was actually having days—sometimes one after another—with zero aggressions.
This post is likely to elicit strong opinions; I would encourage everyone to at least browse the original source articles rather than basing judgments only on the excerpts above.
The article is written in two parts. Link for original article. Link for followup.
Via Metafilter. Photo credit Marie Lee.
Part I [YouTube Clip]
Born 3-and-a-half months prematurely, Derek Paravicini was so small that his doctor presumed that he was dead. Just as his mother had given up hope, she heard the faintest whimper. To keep him alive, he was put on oxygen but improper equipment left him blind and autistic. At the tender age of 2 years old, Derek discovered the piano, and his life was never the same.
Fast forward 30 years. Derek couldn’t tell his left from right and could barely count to ten but his brain is a perfectly programmed musical computer.
Press play or go to Link [YouTube, Part I] to see the amazing things Derek Paravicini, the musical genius, could do.
The rest of the clips: Part 2 | Part 3 | Part 4 | Part 5
Link: The Human iPod, article at Daily Mail by Harry Mount – via LiveScience
Previously on Neatorama: 10 Most Fascinating Savants in the World
Scientists are one step closer to finding the cause for autism. In a new study, Joseph Piven of University of North Carolina and colleagues found that children with autism have enlarged area of the brain called the amygdala:
"We believe that children with autism have normal-sized brains at birth but at some point, in the latter part of the first year of life, it [the amygdala] begins to grow in kids with autism. And this study gives us insight inside the underlying brain mechanism so we can design more rational interventions," said lead study author Dr. Joseph Piven.
A normal-sized amygdala helps a person process faces and emotions, behavior commonly known as joint attention.
"When you see a face, you scan it, identify if it’s friend or foe and make a decision about whether to move forward or avoid it," said Dr. Barry Kosofsky, chief of neurology at Cornell Medical Center, who was not affiliated with the study.
UNC researchers conducted diagnostic assessments, in addition to the MRI scans, to monitor the children’s behavior. They found toddlers with a large amygdala also had joint attention problems.
