Artificial retinas that allow the blind to see
By Jamie Horder
Scientific American
February 15, 2011
The human eye is a biological marvel. Charles Darwin considered it one of the biggest challenges to his theory of evolution, famously writing: that “To suppose that the eye with all its inimitable contrivances for adjusting the focus to different distances, for admitting different amounts of light, and for the correction of spherical and chromatic aberration, could have been formed by natural selection, seems, I freely confess, absurd in the highest degree.” Of course he did go on to explain how natural selection could account for the eye, but we can see why he wrote these words under the heading of “Organs of Extreme Perfection and Complication.”
The complexity and perfection of the eye has meant that, to date, it’s been all but impossible to reproduce its function artificially. Artificial hearts, kidneys (albeit outside the body), and ears ( cochlear implants) are all in widespread medical use -- but not eyes.
That might be about to change. In a remarkable achievement, a team of ophthalmologists and engineers has managed to partially restore vision to the blind, using an electronic device which acts as a replacement for the retina. The results are reported in a paper by Professor Eberhart Zrenner, Director of the Institute for Ophthalmic Research at the University Eye Hospital in Tuebingen, Germany.
The implant consists of a tiny panel, 3 by 3.1 mm in size, containing a 38 by 40 array of 1,500 light-sensitive microphotodiodes. These sensors detect light, and control the output of a pulsed electrical current. The brighter the light, the stronger the resulting current. Each sensor has its own microelectrode, and these are placed in contact with nerve cells in the retina, called bipolar cells, the first step on the pathway from the eye to the brain. The sensors therefore mimic the way the eye’s own photoreceptor cells normally function, turning light into a pattern of electrical impulses.
The implant is not a complete artificial eye. It relies on an intact eyeball, an intact retina with functioning bipolar cells, and an optic nerve to convey the information to the brain. This means that the technology is only useful in forms of blindness caused by selective damage to photoreceptor cells.
However, such blindness is unfortunately common. Retinitis pigmentosa is a disease that causes progressive loss of vision, as the photoreceptor cells degenerate, and eventually die. There are many different forms of the disorder, each caused by mutations in a different gene. In some people, the loss of vision is gradual, and they remain able to see for most of their lives. In others, it rapidly leads to blindness. It’s estimated that about 400,000 Americans suffer some form of the disease.
Zrenner and his team implanted their device in three patients, all of whom had been born with normal vision, but had become almost totally blind due to retinal degeneration. Two of them suffered from retinitis pigmentosa, while the third had a similar disease.
The surgical procedure was, naturally, delicate. It involved inserting a metal tube behind and into one of the patient’s eyes, through which the implant was put into place. The chip comes connected to a cable that provides it with power from an external battery. It also allows the patient to control the sensitivity of the electrodes – essentially, manually adjusting the “brightness” of the image, to compensate for changes in the overall level of light. This is something that the eye normally does so effortlessly that we’re rarely aware of it.
So what happened? All three patients regained vision to some extent. Patient 2, a 44 year old man with retinitis pigmentosa, experienced the most dramatic benefits. He began to lose his sight at the age of 16. The first problem he noticed was a difficulty seeing at night, a common early symptom. By the time of the study, he was virtually blind, although he could still tell the direction from which a light was shining.
Thanks to the implant, he gained the ability to recognize everyday objects including spoons, bananas, and apples; he could read a clock; and he could read letters, albeit slowly, and they had to be printed extremely large (about 5-8 cm high).
Videos of his abilities and his reactions to his newfound sight are available online.
This subretinal implant is not the only “bionic eye” idea under development, however. Other researchers have been working on using an external camera which transmits information to a relay chip placed on the retina, the "epiretinal” approach.
However, Zrenner’s team argues that their subretinal implant technique has some important advantages. Epiretinal devices have to pre-process the image before sending it to the retina, and patients need time to learn how to process the information that their brain receives, because the camera isn’t able to provide an exact simulation of normal retina outputs.
Zrenner et al’s subretinal method, however, took little “getting used to” because the implant is such a close analogue of the healthy retina. Also, they say that epiretinal approaches have so far only provided up to 60 pixels, as opposed to their 1,500.
Still, the technology has limitations. The image has no color, and it’s much less detailed than normal vision. The sensor has a resolution of 38 by 40 pixels, compared to the 960 by 640 resolution of an iPhone screen.
Being so small, it only covers a small fraction of the normal retinal field. However, this is actually less of a problem than it might first appear, because all of our detailed vision takes place in a tiny part of the retina, called the fovea. By placing the implant where the fovea used to be, the quality of the images was maximized.
The chip also requires an external power supply, so patients need to carry the battery pack and control unit around with them. Finally, they have a fairly hefty wire coming out of the side of their head.
So, at the moment, science is very far from being able to fully restore vision, but it’s still an exciting step forward. Technical improvements are sure to bring higher-quality images in the future.
Other researchers are working on using gene therapy to cure the underlying molecular cause of the disease, preventing the photoreceptors from dying in the first place. This approach has shown promise in animal models, and the results of the first human trials of gene therapy in another genetic eye disease, Leber’s ameurosis, have recently appeared.
So whether this device will become widely used in the treatment of people with diseases like retinitis pigmentosa is unclear. But it joins other emerging technologies, from deep brain stimulation to brain-computer interfaces, which are blurring the boundaries between the nervous system and machines.
Jamie Horder is a postdoctoral neuroscientist working at the Institute of Psychiatry in London. His current research focuses on autism.
Showing posts with label Article: Autism. Show all posts
Showing posts with label Article: Autism. Show all posts
Sunday, May 1, 2011
Monday, February 7, 2011
Testing Autism Drugs in Human Brain Cells
A Method Involving Pluripotent Stem Cells Could Lead to Personalized Treatment of the Disease
By Jennifer Chu
Technology Review
November 11, 2010
Autism is a highly complex disorder affecting one in every 110 children born in the United States. The disease's genetic profile and behavioral symptoms fluctuate widely from case to case, and this variability has frustrated scientists' efforts to identify effective treatments. A new study suggests that autism could eventually be a target for personalized treatment, targeted to a patient's own neurons.
A team from the University of California, San Diego, and the Salk Institute for Biological Studies devised a way to study brain cells from patients with autism, and found a way reverse cellular abnormalities in neurons that have been associated with autism.
The researchers took skin biopsies from patients with a severe form of autism called Rett syndrome, and genetically reprogrammed those cells into pluripotent stem cells. Pluripotent stem cells have the power to differentiate into any kind of cell in the body, depending on environmental cues during early development. The team differentiated the stem cells into fully functioning neurons, and then studied their functioning. They found that neurons derived from patients with Rett syndrome showed certain abnormalities, including markedly smaller cell bodies, dendrite connections, and decreased cell-to-cell communication.
By treating these patient-derived neurons with an experimental drug, the researchers could reverse the cellular abnormalities. The findings, published today in the journal Cell, could give scientists a powerful tool for pinpointing the causes of autism and other brain disorders, and a way to choose targeted treatments.
"It took us two years to finish this project, and personalized medicine might not be that far off," says Carol Marchetto, first author of the paper and a postdoctoral researcher at the Salk Institute. "In the lifetime of a patient, you could go from his skin sample to a reprogrammed cell, to differentiating into a neuron, and find drugs that could be used on that patient."
Rett syndrome, which mostly affects girls, can cause highly impaired social and communication skills, which become apparent soon after a child learns to walk and talk. Patients with Rett can experience increased difficulty breathing and controlling their movements, and can develop repetitive and compulsive behaviors similar to other forms of autism.
Marchetto sees Rett syndrome as a gateway to the broader study of autism, since many other forms of autism share behavioral and genetic similarities with Rett syndrome.
Most cases of autism seem to stem from a combination of genetic abnormalities, but Rett arises from a single gene mutation, found on the MeCP2 gene on the X chromosome. In girls, one of two X chromosomes carries the mutation, and during fetal brain development, one chromosome is activated within each brain cell, seemingly at random. Rett patients can exhibit varying percentages of brain cells carrying the mutation, which can manifest as varying levels of severity of the disorder.
To understand how this genetic mutation plays out at a cellular level, Marchetto and her colleague Alysson Muotri, an assistant professor in the department of Molecular and Cellular Medicine at the UCSD's School of Medicine, took skin biopsies from four patients with Rett syndrome, reprogrammed them into pluripotent stem cells and experimented with a number of different conditions before they found a combination of growth factors that differentiated the stem cells into functioning human neurons.
They saw that each patient-derived stem-cell line generated a different percentage of neurons carrying the gene mutation. The defective neurons looked and acted differently from their normal counterparts, exhibiting smaller cell bodies, less dendrite connections, and impaired cell-to-cell communication.
The researchers treated neuron cultures with insulin-like growth factor (iGF1), which has been shown to reverse behavioral symptoms of Rett in mice. The drug reversed the biological symptoms of the disorder in the neurons, restoring dendrite connections and cell-to-cell signaling in defective neurons. The researchers plan to use the same process to generate neurons from more patients with both Rett syndrome and other forms of autism.
Jeffrey Neul, assistant professor of molecular and human genetics at Baylor College of Medicine, who studies Rett syndrome in mice, says animal models allow scientists to observe the behavioral effects of the disease, but this is a time- and labor-intensive process.
"The field really has been in desperate need of cellular-based assays that can be used to test therapeutic compounds," says Neul. "And it's really hard to push drug discovery if you don't have something you can do in a more rapid fashion."
The process Marchetto and Muotri have developed takes three months to generate fully functioning human neurons. While this is similar to the time frame of normal brain development, the researchers are looking for ways to speed the process up so they can rapidly generate brain cells and expose them to a variety of molecular factors and drug compounds.
The team also plans to move beyond the Petri dish once they've differentiated neurons from human skin cells, to see how the neurons work in a living brain. "What we can do is transplant human neurons in mouse brains and generate chimeric [hybrid human-animal] models," says Muotri. "We can then expose these animals to different environments, and see how they will affect the human neuron."
James Ellis, professor of molecular genetics at the University of Toronto, is doing similar work in reprogramming patients' skin cells into brain cells. He says that Muotri and Marchetto's findings open up a new testing ground for autism and other neurological disorders. "That's clearly what's going to be required of autism, where different people are going to have different mutations and mechanisms, in how they ended up with that outcome," he says.
By Jennifer Chu
Technology Review
November 11, 2010
Autism is a highly complex disorder affecting one in every 110 children born in the United States. The disease's genetic profile and behavioral symptoms fluctuate widely from case to case, and this variability has frustrated scientists' efforts to identify effective treatments. A new study suggests that autism could eventually be a target for personalized treatment, targeted to a patient's own neurons.
A team from the University of California, San Diego, and the Salk Institute for Biological Studies devised a way to study brain cells from patients with autism, and found a way reverse cellular abnormalities in neurons that have been associated with autism.
The researchers took skin biopsies from patients with a severe form of autism called Rett syndrome, and genetically reprogrammed those cells into pluripotent stem cells. Pluripotent stem cells have the power to differentiate into any kind of cell in the body, depending on environmental cues during early development. The team differentiated the stem cells into fully functioning neurons, and then studied their functioning. They found that neurons derived from patients with Rett syndrome showed certain abnormalities, including markedly smaller cell bodies, dendrite connections, and decreased cell-to-cell communication.
By treating these patient-derived neurons with an experimental drug, the researchers could reverse the cellular abnormalities. The findings, published today in the journal Cell, could give scientists a powerful tool for pinpointing the causes of autism and other brain disorders, and a way to choose targeted treatments.
"It took us two years to finish this project, and personalized medicine might not be that far off," says Carol Marchetto, first author of the paper and a postdoctoral researcher at the Salk Institute. "In the lifetime of a patient, you could go from his skin sample to a reprogrammed cell, to differentiating into a neuron, and find drugs that could be used on that patient."
Rett syndrome, which mostly affects girls, can cause highly impaired social and communication skills, which become apparent soon after a child learns to walk and talk. Patients with Rett can experience increased difficulty breathing and controlling their movements, and can develop repetitive and compulsive behaviors similar to other forms of autism.
Marchetto sees Rett syndrome as a gateway to the broader study of autism, since many other forms of autism share behavioral and genetic similarities with Rett syndrome.
Most cases of autism seem to stem from a combination of genetic abnormalities, but Rett arises from a single gene mutation, found on the MeCP2 gene on the X chromosome. In girls, one of two X chromosomes carries the mutation, and during fetal brain development, one chromosome is activated within each brain cell, seemingly at random. Rett patients can exhibit varying percentages of brain cells carrying the mutation, which can manifest as varying levels of severity of the disorder.
To understand how this genetic mutation plays out at a cellular level, Marchetto and her colleague Alysson Muotri, an assistant professor in the department of Molecular and Cellular Medicine at the UCSD's School of Medicine, took skin biopsies from four patients with Rett syndrome, reprogrammed them into pluripotent stem cells and experimented with a number of different conditions before they found a combination of growth factors that differentiated the stem cells into functioning human neurons.
They saw that each patient-derived stem-cell line generated a different percentage of neurons carrying the gene mutation. The defective neurons looked and acted differently from their normal counterparts, exhibiting smaller cell bodies, less dendrite connections, and impaired cell-to-cell communication.
The researchers treated neuron cultures with insulin-like growth factor (iGF1), which has been shown to reverse behavioral symptoms of Rett in mice. The drug reversed the biological symptoms of the disorder in the neurons, restoring dendrite connections and cell-to-cell signaling in defective neurons. The researchers plan to use the same process to generate neurons from more patients with both Rett syndrome and other forms of autism.
Jeffrey Neul, assistant professor of molecular and human genetics at Baylor College of Medicine, who studies Rett syndrome in mice, says animal models allow scientists to observe the behavioral effects of the disease, but this is a time- and labor-intensive process.
"The field really has been in desperate need of cellular-based assays that can be used to test therapeutic compounds," says Neul. "And it's really hard to push drug discovery if you don't have something you can do in a more rapid fashion."
The process Marchetto and Muotri have developed takes three months to generate fully functioning human neurons. While this is similar to the time frame of normal brain development, the researchers are looking for ways to speed the process up so they can rapidly generate brain cells and expose them to a variety of molecular factors and drug compounds.
The team also plans to move beyond the Petri dish once they've differentiated neurons from human skin cells, to see how the neurons work in a living brain. "What we can do is transplant human neurons in mouse brains and generate chimeric [hybrid human-animal] models," says Muotri. "We can then expose these animals to different environments, and see how they will affect the human neuron."
James Ellis, professor of molecular genetics at the University of Toronto, is doing similar work in reprogramming patients' skin cells into brain cells. He says that Muotri and Marchetto's findings open up a new testing ground for autism and other neurological disorders. "That's clearly what's going to be required of autism, where different people are going to have different mutations and mechanisms, in how they ended up with that outcome," he says.
Thursday, October 21, 2010
Lancet Retracts Study Tying Vaccine to Autism
By Shirley S. Wang
The Wall Street Journal - February 3, 2010
The study that first suggested a link between vaccines and autism and spurred a long-running, acrimonious debate over the safety of vaccines has been retracted by the British medical journal that published it. The withdrawal supports the scientific evidence that vaccinations don't cause autism, but isn't likely to persuade advocacy groups that believe in a link.
A new autism study shows clusters of high autism rates in parts of California. WSJ's health columnist Melinda Beck joins Simon Constable on the News Hub with more.
The 1998 study of 12 children triggered worry among British parents that the measles-mumps-rubella vaccine caused autism, and many decided not to immunize their children against measles, according to Richard Horton, editor in chief of the Lancet, which issued the retraction Tuesday. He called the study the "starting pistol," though not the only cause, of the controversy.
Concern about the safety of vaccines, particularly regarding the preservative often used, thimerosal, which contains mercury, spread to the U.S. as well. Research has shown that as many as 2.1% of U.S. children weren't immunized with the MMR vaccine in 2000, up from 0.77% of children in 1995, according to a 2008 study published in Pediatrics.
"This retraction by the Lancet came far too late," said Paul Offit, chief of infectious diseases at Children's Hospital of Philadelphia and a coinventor of a vaccination for babies against a gastrointestinal virus, Rotateq, that is marketed by Merck & Co. "It's very easy to scare people; it's very hard to unscare them."
A widely cited 2004 statistical review of existing studies by nonprofit health-information provider the Institute of Medicine, which traced the vaccine theory back to the Lancet study, concluded there was no causal link between the MMR vaccine and autism. Some autism activist groups, however, continue to advocate against vaccinations for children, despite the lack of scientific evidence for such a link.
"Certainly the retraction of this paper doesn't mean that MMR doesn't cause autism and it's all a farce," said Wendy Fournier, president of the National Autism Association. It is "possible" that the MMR vaccine causes autism, she said, but "the science is not there in terms of the mechanism." The concern is that measles virus has been found in children's intestines after vaccination, said Ms. Fournier.
"No one is anti-vaccine," she said. "It's a matter of having vaccines be as safe as they can."
A study published in 2008 by researchers from several universities and the Centers for Disease Control and Prevention examined children with gastrointestinal problems who had autism compared with those who didn't have autism. They concluded there wasn't any evidence that the vaccine was responsible for autism.
Ten of the 13 authors of the original paper, all of whom were researchers at the Royal Free Hospital and School of Medicine in London, partially retracted the paper in 2004. However, the first author, Andrew Wakefield, didn't. Dr. Wakefield, who is now at the Thoughtful House Center for Children in Austin, Texas, didn't immediately return phone calls seeking comment.
"Many consumer groups have spent 10 years waging a campaign against vaccines even in the face of scientific evidence," said Dr. Horton of the Lancet. "We didn't have the evidence back in 2004 to fully retract the paper but we did have enough concern to persuade the authors to partly retract the paper."
The Lancet decided to issue a complete retraction after an independent regulator for doctors in the U.K. concluded last week that the study was flawed. The General Medical Council's report on three of the researchers, including Dr. Wakefield, found evidence that some of their actions were conducted for experimental purposes, not clinical care, and without ethics approval. The report also found that Dr. Wakefield drew blood for research purposes from children at his son's birthday party, paying each child £5 (about $8).
The Lancet's Dr. Horton said the journal was particularly concerned about the ethical treatment of the children in the study, and that the children had been "cherry-picked" by the study's authors rather than just showing up in the hospital, as described in the paper.
The authors "did suggest these children arrived one after another and this syndrome was apparent, which does lead you to think this is something serious," said Dr. Horton.
"I hope this brings closure to this controversy," said Fred Volkmar, an autism researcher and professor of psychiatry at the Yale Child Study Center who wasn't involved in the Lancet study. "My fear, unfortunately, is that this won't totally allay the fear of all parents."
In the 1998 paper, Dr. Wakefield and his colleagues described 12 children with gastrointestinal problems. Eight experienced symptoms that were thought to be related to the MMR vaccine, according to their parents or a doctor, and nine of the 12 children exhibited autistic behaviors.
Dr. Wakefield has been outspoken about his concern about the measles vaccine. He has continually pushed the view that the vaccine caused autism, said Greg Poland, professor of medicine and infectious diseases at the Mayo Clinic and director of the vaccine research group in Rochester, Minn.
"With the retraction, the hypothesis that he put forward has been debunked," said Dr. Poland.
—Peter Loftus contributed to this article.
Write to Shirley S. Wang at shirley.wang@wsj.com
The Wall Street Journal - February 3, 2010
The study that first suggested a link between vaccines and autism and spurred a long-running, acrimonious debate over the safety of vaccines has been retracted by the British medical journal that published it. The withdrawal supports the scientific evidence that vaccinations don't cause autism, but isn't likely to persuade advocacy groups that believe in a link.
A new autism study shows clusters of high autism rates in parts of California. WSJ's health columnist Melinda Beck joins Simon Constable on the News Hub with more.
The 1998 study of 12 children triggered worry among British parents that the measles-mumps-rubella vaccine caused autism, and many decided not to immunize their children against measles, according to Richard Horton, editor in chief of the Lancet, which issued the retraction Tuesday. He called the study the "starting pistol," though not the only cause, of the controversy.
Concern about the safety of vaccines, particularly regarding the preservative often used, thimerosal, which contains mercury, spread to the U.S. as well. Research has shown that as many as 2.1% of U.S. children weren't immunized with the MMR vaccine in 2000, up from 0.77% of children in 1995, according to a 2008 study published in Pediatrics.
"This retraction by the Lancet came far too late," said Paul Offit, chief of infectious diseases at Children's Hospital of Philadelphia and a coinventor of a vaccination for babies against a gastrointestinal virus, Rotateq, that is marketed by Merck & Co. "It's very easy to scare people; it's very hard to unscare them."
A widely cited 2004 statistical review of existing studies by nonprofit health-information provider the Institute of Medicine, which traced the vaccine theory back to the Lancet study, concluded there was no causal link between the MMR vaccine and autism. Some autism activist groups, however, continue to advocate against vaccinations for children, despite the lack of scientific evidence for such a link.
"Certainly the retraction of this paper doesn't mean that MMR doesn't cause autism and it's all a farce," said Wendy Fournier, president of the National Autism Association. It is "possible" that the MMR vaccine causes autism, she said, but "the science is not there in terms of the mechanism." The concern is that measles virus has been found in children's intestines after vaccination, said Ms. Fournier.
"No one is anti-vaccine," she said. "It's a matter of having vaccines be as safe as they can."
A study published in 2008 by researchers from several universities and the Centers for Disease Control and Prevention examined children with gastrointestinal problems who had autism compared with those who didn't have autism. They concluded there wasn't any evidence that the vaccine was responsible for autism.
Ten of the 13 authors of the original paper, all of whom were researchers at the Royal Free Hospital and School of Medicine in London, partially retracted the paper in 2004. However, the first author, Andrew Wakefield, didn't. Dr. Wakefield, who is now at the Thoughtful House Center for Children in Austin, Texas, didn't immediately return phone calls seeking comment.
"Many consumer groups have spent 10 years waging a campaign against vaccines even in the face of scientific evidence," said Dr. Horton of the Lancet. "We didn't have the evidence back in 2004 to fully retract the paper but we did have enough concern to persuade the authors to partly retract the paper."
The Lancet decided to issue a complete retraction after an independent regulator for doctors in the U.K. concluded last week that the study was flawed. The General Medical Council's report on three of the researchers, including Dr. Wakefield, found evidence that some of their actions were conducted for experimental purposes, not clinical care, and without ethics approval. The report also found that Dr. Wakefield drew blood for research purposes from children at his son's birthday party, paying each child £5 (about $8).
The Lancet's Dr. Horton said the journal was particularly concerned about the ethical treatment of the children in the study, and that the children had been "cherry-picked" by the study's authors rather than just showing up in the hospital, as described in the paper.
The authors "did suggest these children arrived one after another and this syndrome was apparent, which does lead you to think this is something serious," said Dr. Horton.
"I hope this brings closure to this controversy," said Fred Volkmar, an autism researcher and professor of psychiatry at the Yale Child Study Center who wasn't involved in the Lancet study. "My fear, unfortunately, is that this won't totally allay the fear of all parents."
In the 1998 paper, Dr. Wakefield and his colleagues described 12 children with gastrointestinal problems. Eight experienced symptoms that were thought to be related to the MMR vaccine, according to their parents or a doctor, and nine of the 12 children exhibited autistic behaviors.
Dr. Wakefield has been outspoken about his concern about the measles vaccine. He has continually pushed the view that the vaccine caused autism, said Greg Poland, professor of medicine and infectious diseases at the Mayo Clinic and director of the vaccine research group in Rochester, Minn.
"With the retraction, the hypothesis that he put forward has been debunked," said Dr. Poland.
—Peter Loftus contributed to this article.
Write to Shirley S. Wang at shirley.wang@wsj.com
Friday, October 8, 2010
Siblings of Autistic Children May Share Some Symptoms
Survey finds surprising number of girls affected but not diagnosed
By Bruce Bower, Science News
Autism seems to play a genetically inspired hide-and-seek game in some families. Undiagnosed siblings in families that include two or more children with autism often grapple with language delays, social difficulties and other mild symptoms of the disorder, a new study suggests.
Genes prompt autism symptoms of varying intensity among members of these families, including in some kids who don’t qualify as having an autism spectrum disorder, say psychiatrist John Constantino of Washington University School of Medicine in St. Louis and his colleagues. Researchers have generally limited their search for DNA peculiarities to children diagnosed with autism or related disorders (SN: 7/3/10, p.12), a strategy that overlooks those with mild autism signs, Constantino’s group asserts in a paper published online October 1 in the American Journal of Psychiatry.
“Subtle aspects of the autistic syndrome have not been accounted for in most studies of its intergenerational transmission,” Constantino says.
By including individuals with mild autism symptoms in DNA studies, researchers could enlarge their sample sizes and amplify the statistical power of studies to find genetic effects, remarks psychiatrist Joseph Piven of the University of North Carolina at Chapel Hill.
“Given Constantino’s data, it is clearly wrong to label all nonautistic individuals as unaffected by an underlying genetic liability for the condition,” Piven says.
Approximately one in five siblings of children with autism who don’t meet criteria for the disorder display mild or “subclinical” autism traits, Constantino’s team estimates. These traits consist of language delays, the use of odd or repeated phrases and other unusual speech qualities and difficulties interacting with others. Most such children come from families with at least two other youngsters who have an autism spectrum disorder.
Four times as many boys as girls meet psychiatric criteria for autism. But the inclusion of mild autism traits narrows that ratio to three boys for every two girls.
Males and females inherit the same autism-related genes, but in females those genes frequently interact with other genetic factors or with environmental influences to reduce the severity of symptoms, Constantino theorizes.
Subclinical autistic traits deserve close scrutiny for possible detrimental effects on children, Constantino adds. Kids with undiagnosed autism-related social deficits may find it hard to make friends and could experience a worsening of other conditions such as learning disabilities and attention-deficit hyperactivity disorder.
Subclinical traits may have benefits as well, he adds. Disinterest in social activities and a focus on details might boost math, science and computer skills.
Constantino’s team assessed signs of autism in 2,920 children from 1,235 families participating in a national online research registry. Each family in the registry includes at least one child with an autism spectrum disorder and at least one biological sibling. Data came from questionnaires completed by parents.
Their responses indicated that 134 families, or 11 percent, had more than one child diagnosed with autism. About one in four families, including nearly all of those with multiple autism cases, also contained siblings with mild symptoms.
Among mildly affected boys and girls, 20 percent had received a diagnosis of language delay or speech problems early in life, double the prevalence in the general population.
Constantino emphasizes that, for three in four families, one child had an autism spectrum disorder and the rest showed no signs of autism. He suspects that autism-related genes work in an all-or-nothing fashion in these families.
Clinicians should measure the intensity of autism symptoms over time in individual children and determine points at which interventions become necessary, much as they use growth charts to ascertain childhood obesity, he recommends.
Thursday, October 7, 2010
Autistic Student Numbers on Rise
by Zack Harold
Daily Mail staff
Charleston Daily Mail
CHARLESTON, W.Va. -- The number of West Virginia students diagnosed as autistic has more than tripled in nine years, and the superintendent of the county with the highest number told state school board members his county is paying as much as $200,000 per child in severe cases.
Manny Arvon, superintendent of Berkeley County Schools, spoke with board members about his county's unusually high number of autistic students in a meeting Wednesday.
He said when he first took the superintendent job there in 1997, the county had 11 autistic students. This year the county has about 161.
Arvon said his county has 30 teachers at 29 locations working with autistic students, but 15 of those teachers aren't autism-certified. He said 23 of the county's 42 autism aides have specialized training for the job.
His school system spends an average of more than $19,000 per autistic student every year to provide them with the services they need. Countywide, that amounts to more than $3 million, and those costs are likely to increase as Berkeley is averaging 15 more autistic students every year.
Arvon said some of the county's most severely autistic students are sent to a day program across the state line in Virginia. That costs the school system $100,000 plus transportation per child. If the child lives at the program, the school system pays $200,000.
Berkeley County Schools spends just under $1,800 per student in regular classrooms, Arvon said.
Pat Homberg, executive director of the education department's Office of Special Programs, told the board that 1,230 West Virginia students were currently diagnosed with autism. In the 2001-2002 school year, just 389 students were diagnosed.
She said some people have suggested the increase is due to better detection efforts.
"But that really doesn't account for this huge number of students who have been diagnosed," she said.
Homberg also provided board members with a county-by-county breakdown of autistic student enrollments as of Dec. 1, 2009.
Berkeley County led the state last year with 130 students, followed by Kanawha, the state's largest school system, with 83. Putnam County School had 45, and Cabell had 69.
State Superintendent Steve Paine pointed out that 1,230 students amount to about 0.5 percent of all West Virginia public school students.
Homberg said one in every 110 children has autism and one in 70 boys are diagnosed. The national Centers for Disease Control is investigating genetic and environmental causes, "but there has not been a particular cause that has been identified," Homberg said.
Autistic children have much different needs than other students, Homberg said. Their low frustration tolerance demands predictable and structured schedules.
Some students remain in general education classes, sometimes with a special education teacher present, but others are taught in separate classes. Homberg said teaching strategies must be tailored to individual students, as each autistic child's abilities are different.
Board member Lowell Johnson asked if schools were hiring enough certified personnel to meet autistic students' needs or if they were having a difficult time finding certified employees.
"If I were a parent who had an autistic child, I would certainly want the best possible teacher in the classroom working with the child," he said.
Homberg said certified teachers are difficult to find.
Berkeley County's Arvon said, "Just because you're spending money doesn't mean you're spending it right. I think it starts with trying to attract certified people."
He said his county's biggest challenge is recruiting and retaining certified personnel for autistic students. If the county continues to hire untrained personnel, he said, "You're going to hire more."
When the county gets qualified teachers, the school system naturally gives those educators the most difficult cases.
"They leave; we burn them out," Arvon said.
"You have to deal with the behavior before you can get to the instruction," he said. Thus, some schools place an aide with every student. "And that's not the answer."
Arvon said he would like to work with the state Department of Education to start a pilot program to better serve autistic students.
Board President Priscilla Haden asked Homberg to create a list of suggestions for ways the department might improve autistic education.
After Homberg's presentation, Jeannie Elkins, chairwoman of the West Virginia Developmental Disabilities Council, showed board members a brief video about her autistic son, Alan.
She said Alan, now 26, was terrified when he enrolled in a preschool program at age 4. Fearing the same uneasy transition when he moved to kindergarten, Alan's preschool teacher started sending him to a kindergarten program for one hour every day to ready him for the switch.
His step-up time paid off two years later, when Alan made a seamless transition into a fulltime kindergarten class.
"It gave him self confidence, and I saw a completely different young child," Elkins said in the video's narration.
Seeing the success of that transition, an itinerant teacher started prepping Alan for the switch to Sherman Junior High in third grade. His aide, Carol, remained with Alan until graduation. His mother credited her as "the key to his success."
Alan made a smooth transition there and eventually to Sherman High School, where he graduated in 2003.
While in his junior year of high school, Alan joined the "building bridges" program, leaving school at noon each day to work in Boone Memorial Hospital's laundry facilities.
Jeannie said her son enjoyed the work so much, "he called it his field trip." She said Alan, now a "delightful, happy young man," recently marked his seventh year at the hospital with stellar reviews from his supervisors and coworkers.
"We often do not have success stories and this is one," Haden said after Elkins' presentation.
Board member Delores Cook, who invited Elkins to appear at the meeting, said she agreed.
"When I asked Mrs. Haden if we could have this presentation, I feel many times we come here and we hear bad stories. I felt like there are many good programs that are happening here in West Virginia, in the Department of Education," she said.
Saturday, July 11, 2009
Mothers of Children with Autism Have Higher Parental Stress, Psychological Distress
http://www.sciencedaily.com/releases/2009/07/090708153233.htm
ScienceDaily (July 9, 2009) — Ask any mother and she'll tell you that raising a preschooler is no easy task. Now imagine what it must be like to bring up a child with autism or a developmental delay.
Researchers at the University of Washington's Autism Center asked mothers about their experiences and found that moms of children with autism had higher levels of parenting-related stress and psychological distress than mothers of children with developmental delay. Children's problem behavior was associated with increases in both parenting-related stress and distress in both groups, but this relationship was stronger in mothers of children with autism.
"Both groups of women are dealing with children who need high levels of care-giving. But there is something about autism that is making a difference and adding stress and psychological distress to these mothers," said Annette Estes, lead author of a new study and associate director of the UW Autism Center.
Surprisingly, the research also found no link between a child's decreased daily living skills and increased parental stress and psychological distress.
"This finding was counterintuitive," said Estes, who is also a research assistant professor of psychiatry and behavioral sciences. "If a child has more needs in getting dressed and in other daily living skills, that means the parents are working harder and seemingly would be under stress. But it is not the hard work that is stressing the mothers. Our findings really pointed to the behavior problems that can occur with autism. Children with autism had significantly higher levels of problem behaviors than children with developmental delay."
These behavior problems included such things as irritability, agitation, crying, inappropriate speech and not being able to follow rules.
For this study parental stress was defined as being the stress directly related to a person's role as a parent and parenting a child with a disability. Psychological distress is more general stress, such as that experienced by a person who is nervous about her job or life in general but may or may not be confident about her parenting.
The study included 73 mothers and their children – 51 of the youngsters had an autism spectrum disorder and 22 had developmental delays. The families were part of a larger study exploring the neurobiology and developmental course of autism. The children in the stress study were predominantly male, white and about 3½ years old when data was collected.
Parents filled out a number of detailed surveys that measured parenting stress, psychological distress, problem behaviors and adaptive functioning level. The last charted a child's daily living skills in such areas as dressing, feeding, using the toilet, bathing and helping with household chores.
The study, Estes said, looked at psychological stress, not psychiatric disorders in mothers.
"We were not diagnosing disorders and our sample of parents likely did not include the most distressed parents, those who did not have the resources to take the time to participate in a research study or those who were probably too busy and stressed raising a disabled child to participate.
She noted that problem behavior needs to be a crucial target in treating children with autism and developmental delay.
"We need to focus on it because it appears to have the potential to disrupt the family, parenting and the child. While problem behavior is not a core element of autism, it might rise to the top of the issues that have to be dealt with first in a clinical setting," Estes said. "Help in what we call family adaptive functioning is what we need to figure out in these cases. How to help families is important because high levels of stress and psychological distress can interfere with early identification of autism and interventions which are delivered by parents. There's another good reason to do this: Parents who feel supported can better support their children."
The paper has been published in the online edition of the journal Autism and the research was funded by the National Institute of Child Health and Human Development. Co-authors are Jeffrey Munson, an assistant research professor in the UW Autism Center; Geraldine Dawson, a UW emeritus professor of psychology who is now the chief science officer of Autism Speaks; Elizabeth Koehler, a former UW biostatistics graduate student; and Xiao-Hua Zhou and Robert Abbott, UW professors of biostatistics and educational psychology, respectively.
Adapted from materials provided by University of Washington.
ScienceDaily (July 9, 2009) — Ask any mother and she'll tell you that raising a preschooler is no easy task. Now imagine what it must be like to bring up a child with autism or a developmental delay.
Researchers at the University of Washington's Autism Center asked mothers about their experiences and found that moms of children with autism had higher levels of parenting-related stress and psychological distress than mothers of children with developmental delay. Children's problem behavior was associated with increases in both parenting-related stress and distress in both groups, but this relationship was stronger in mothers of children with autism.
"Both groups of women are dealing with children who need high levels of care-giving. But there is something about autism that is making a difference and adding stress and psychological distress to these mothers," said Annette Estes, lead author of a new study and associate director of the UW Autism Center.
Surprisingly, the research also found no link between a child's decreased daily living skills and increased parental stress and psychological distress.
"This finding was counterintuitive," said Estes, who is also a research assistant professor of psychiatry and behavioral sciences. "If a child has more needs in getting dressed and in other daily living skills, that means the parents are working harder and seemingly would be under stress. But it is not the hard work that is stressing the mothers. Our findings really pointed to the behavior problems that can occur with autism. Children with autism had significantly higher levels of problem behaviors than children with developmental delay."
These behavior problems included such things as irritability, agitation, crying, inappropriate speech and not being able to follow rules.
For this study parental stress was defined as being the stress directly related to a person's role as a parent and parenting a child with a disability. Psychological distress is more general stress, such as that experienced by a person who is nervous about her job or life in general but may or may not be confident about her parenting.
The study included 73 mothers and their children – 51 of the youngsters had an autism spectrum disorder and 22 had developmental delays. The families were part of a larger study exploring the neurobiology and developmental course of autism. The children in the stress study were predominantly male, white and about 3½ years old when data was collected.
Parents filled out a number of detailed surveys that measured parenting stress, psychological distress, problem behaviors and adaptive functioning level. The last charted a child's daily living skills in such areas as dressing, feeding, using the toilet, bathing and helping with household chores.
The study, Estes said, looked at psychological stress, not psychiatric disorders in mothers.
"We were not diagnosing disorders and our sample of parents likely did not include the most distressed parents, those who did not have the resources to take the time to participate in a research study or those who were probably too busy and stressed raising a disabled child to participate.
She noted that problem behavior needs to be a crucial target in treating children with autism and developmental delay.
"We need to focus on it because it appears to have the potential to disrupt the family, parenting and the child. While problem behavior is not a core element of autism, it might rise to the top of the issues that have to be dealt with first in a clinical setting," Estes said. "Help in what we call family adaptive functioning is what we need to figure out in these cases. How to help families is important because high levels of stress and psychological distress can interfere with early identification of autism and interventions which are delivered by parents. There's another good reason to do this: Parents who feel supported can better support their children."
The paper has been published in the online edition of the journal Autism and the research was funded by the National Institute of Child Health and Human Development. Co-authors are Jeffrey Munson, an assistant research professor in the UW Autism Center; Geraldine Dawson, a UW emeritus professor of psychology who is now the chief science officer of Autism Speaks; Elizabeth Koehler, a former UW biostatistics graduate student; and Xiao-Hua Zhou and Robert Abbott, UW professors of biostatistics and educational psychology, respectively.
Adapted from materials provided by University of Washington.
Monday, July 14, 2008
Gene Research Heightens Hope for Curing Autism
by Anna Boyd
15:17, July 13th 2008
http://www.efluxmedia.com/news_Gene_Research_Heightens_Hope_For_Curing_Autism_20270.html
U.S. researchers have found six new genes involved in autism. More exactly, they found that these genes are responsible for new brain connections needed in the process of learning.
What was really impressive was that these genes were turned off and their silence places them among many mutations that lead to the devastating disorder. Finding ways to turn them on might lead to curing autism, according to the study’s authors.
Autism is a spectrum of different disorders ranging in severity and in symptoms from the mild Asperger’s syndrome to more severe autism. The disease, characterized by poor social interactions, impaired communication and repetitive behavior, affects as many as 1 in every 150 kids in the U.S., according the Centers for Disease Control and Prevention.
For the study, Dr. Christopher A. Walsh and Dr. Eric Morrow of Harvard Medical School in Boston and colleagues analyzed 104 Muslim families from a series of Middle East countries, in which there was a high incidence of autism. In Middle East countries, there is an increased tendency for cousins to marry, raising kids’ odds of inheriting rare mutations. There were 88 such families involved in the study.
The genetic analysis of these families revealed that autism is not only caused by the deletion of some genes but also by turning off other genes. These particular genes cause disruptions in the brain’s ability to form new connections in response to experience.
The good news is that these genes involved in autism were just turned off and not deleted. Now the only thing that researchers need to do is to find ways to turn these genes on in order to improve and eventually cure autism.
"Interestingly, not all the affected genes were actually deleted, but only prevented from turning on, offering hope that therapies could be developed to reactivate the genes," the researchers wrote in the July 11 edition of the journal Science.
15:17, July 13th 2008
http://www.efluxmedia.com/news_Gene_Research_Heightens_Hope_For_Curing_Autism_20270.html
U.S. researchers have found six new genes involved in autism. More exactly, they found that these genes are responsible for new brain connections needed in the process of learning.
What was really impressive was that these genes were turned off and their silence places them among many mutations that lead to the devastating disorder. Finding ways to turn them on might lead to curing autism, according to the study’s authors.
Autism is a spectrum of different disorders ranging in severity and in symptoms from the mild Asperger’s syndrome to more severe autism. The disease, characterized by poor social interactions, impaired communication and repetitive behavior, affects as many as 1 in every 150 kids in the U.S., according the Centers for Disease Control and Prevention.
For the study, Dr. Christopher A. Walsh and Dr. Eric Morrow of Harvard Medical School in Boston and colleagues analyzed 104 Muslim families from a series of Middle East countries, in which there was a high incidence of autism. In Middle East countries, there is an increased tendency for cousins to marry, raising kids’ odds of inheriting rare mutations. There were 88 such families involved in the study.
The genetic analysis of these families revealed that autism is not only caused by the deletion of some genes but also by turning off other genes. These particular genes cause disruptions in the brain’s ability to form new connections in response to experience.
The good news is that these genes involved in autism were just turned off and not deleted. Now the only thing that researchers need to do is to find ways to turn these genes on in order to improve and eventually cure autism.
"Interestingly, not all the affected genes were actually deleted, but only prevented from turning on, offering hope that therapies could be developed to reactivate the genes," the researchers wrote in the July 11 edition of the journal Science.
Autism Treatment Study
by John Marc Green
CBS 42 News 2008-07-11 16:55:07.0
http://www.cbs42.com/news/local/24540294.html
Birmingham HBOT is the only treatment center in Alabama offering large pressurized tanks used to immerse the brains of autistic children in oxygen, to try to reverse some of the effects of the disease.
Now, some children undergoing hyperbaric therapy are also being treated for toxic metal exposure with a treatment called chelation. "Chelation is basically using either natural or drugs to remove either lead or mercury," said Dr. David Adams. He says the medical community has been slow to accept the treatment due to lack of evidence, but a new study could soon change that. "I think the NIH is listening to parents and listening to parent reports of improvement with chelation and are attempting to scientifically evaluate that," Adams said.
Parents of autistic children say whether you're talking about hyperbaric oxygen therapy or chelation, the medical controversies don't matter as much as the actual results they've seen in their children's lives. "Once we started adding the chelation to it we had a lot of his people that work with him in school, therapists and so forth, really start to see a big difference in how responsive he was," said Rodney Allison. "It's like they've come alive, gradually by gradually I'm getting my kids back cause it was like they died," said Tracey Martin, the director of Birmingham HBOT.
Dr. Adams says children may become exposed to mercury and lead from fish, coal fired steam plants, and certain vaccines.
CBS 42 News 2008-07-11 16:55:07.0
http://www.cbs42.com/news/local/24540294.html
Birmingham HBOT is the only treatment center in Alabama offering large pressurized tanks used to immerse the brains of autistic children in oxygen, to try to reverse some of the effects of the disease.
Now, some children undergoing hyperbaric therapy are also being treated for toxic metal exposure with a treatment called chelation. "Chelation is basically using either natural or drugs to remove either lead or mercury," said Dr. David Adams. He says the medical community has been slow to accept the treatment due to lack of evidence, but a new study could soon change that. "I think the NIH is listening to parents and listening to parent reports of improvement with chelation and are attempting to scientifically evaluate that," Adams said.
Parents of autistic children say whether you're talking about hyperbaric oxygen therapy or chelation, the medical controversies don't matter as much as the actual results they've seen in their children's lives. "Once we started adding the chelation to it we had a lot of his people that work with him in school, therapists and so forth, really start to see a big difference in how responsive he was," said Rodney Allison. "It's like they've come alive, gradually by gradually I'm getting my kids back cause it was like they died," said Tracey Martin, the director of Birmingham HBOT.
Dr. Adams says children may become exposed to mercury and lead from fish, coal fired steam plants, and certain vaccines.
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