Saturday, December 10, 2011
Autism May Involve Disordered White Matter in the Brain
ScienceDaily (Dec. 5, 2011)
It's still unclear what's different in the brains of people with autism spectrum disorders (ASDs), but evidence from genetic and cell studies points to abnormalities in how brain cells (neurons) connect to each other. A study at Children's Hospital Boston now provides visual evidence associating autism with a disorganized structure of brain connections, as well as defects in myelin -- the fatty, insulating coating that helps nerve fibers conduct signals and that makes up the brain's white matter.
Researchers led by Mustafa Sahin, MD, PhD, of the Department of Neurology, Simon Warfield, PhD, director of the Computational Radiology Laboratory, and first author Jurriaan Peters, MD, of both departments at Children's, used advanced magnetic resonance imaging (MRI) to image the brains of 40 patients (infants to age 25) with tuberous sclerosis complex and 29 age-matched, healthy controls. Tuberous sclerosis is a rare genetic condition often associated with cognitive and behavioral deficits, including ASDs about 50 percent of the time.
"Patients with tuberous sclerosis can be diagnosed at birth or potentially before birth, because of cardiac tumors that are visible on ultrasound, giving us the opportunity to understand the circuitry of the brain at an early age," explains Sahin. "Our ultimate goal is to use imaging in infancy to find which tuberous sclerosis patients are at high risk for autism so we can intervene early. This may have implications for autism in patients without tuberous sclerosis as well."
The team used a relatively new MRI technique called Diffusion Tensor Imaging to trace the pathways of nerve fibers by measuring the diffusion of water in the brain. In the January issue of the journal Academic Radiology, they report findings in the corpus callosum, the brain's largest white-matter structure that acts as a highway transferring signals between the left and right cerebral hemispheres.
Of the 40 patients with tuberous sclerosis, 24 had clinically significant developmental delays or intellectual disability, and 12 had ASDs. ASDs were diagnosed clinically by a pediatric neurologist, and, in most cases, by the Autism Diagnostic Observation Schedule (ADOS).
In general, compared with controls, patients with tuberous sclerosis had higher radial diffusivity values, a measure of water diffusion out of (perpendicular to) the nerve fibers (axons). Radial diffusivity is an indirect measure of how well insulated the axons are: Having higher radial diffusivity means axons are poorly insulated with myelin, suggesting abnormalities in the white matter (which is partly made up of myelin.
Patients with both tuberous sclerosis and ASDs not only had increased radial diffusivity -- compared with both non-ASD patients and controls -- but they also had clearly disorganized axon pathways.
As shown in the images, axons in the control subjects followed well-defined directions in organized bundles (left panels), while the ASD patients' axons (right panels) tended not to orient together in common directions (referred to in the paper as having lower fractional anisotropy). Tuberous sclerosis patients without ASDs (middle panels) showed only slight disorganization compared to controls.
"This study shows that we can use diffusion tensor imaging to differentiate tuberous patients with autism from those without autism," says Sahin.
"Our advances in imaging and in image analysis are enabling us to identify and quantitatively characterize alterations in brain development that are not readily visible in conventional imaging,'' adds Warfield.
The findings add to previous human imaging studies by Sahin and Warfield showing similar differences in the brain's visual cortex, and are consistent with brain MRIs in older, high-functioning individuals with ASDs, showing abnormalities in connectivity in the corpus callosum and in areas of brain involved in language and social skills.
The findings are also consistent with studies in Sahin's lab using mouse models of tuberous sclerosis. The neurons in these mice grew multiple axons (normal neurons grow just one), causing too many connections being made, and axons originating in the retina failed to land in the right places in the brain and did not respond to navigation cues.
Additional studies showed that the axons in these mice had less myelination, identified the biochemical pathway causing these defects, known as the mTOR pathway, and showed that the pathway and the myelination defects could be reversed in mice with the mTOR-inhibiting drug rapamycin.
Armed with these data, Sahin has launched a Phase II clinical trial of a rapamycin-like drug called Afinitor® (everolimus; formerly RAD001), sponsored by Novartis, the Tuberous Sclerosis Alliance and Autism Speaks. The trial will enroll 50 patients with TSC to test whether Afinitor improves neurocognition, autism, seizures and sleep disorders. "Specifically modulating neurocognition with a small molecule is only starting to be done," says Sahin.
"Ultimately, imaging will play a crucial role in identifying who may benefit from treatment, and in seeing the changes in the brain in response to treatment," says Warfield.
Sunday, July 17, 2011
Biomarker for Autism Discovered
ScienceDaily (July 12, 2011) — Siblings of people with autism show a similar pattern of brain activity to that seen in people with autism when looking at emotional facial expressions. Researchers at the University of Cambridge identified the reduced activity in a part of the brain associated with empathy and argue it may be a 'biomarker' for a familial risk of autism.
Dr Michael Spencer, who led the study from the University's Autism Research Centre, said: "The findings provide a springboard to investigate what specific genes are associated with this biomarker. The brain's response to facial emotion could be a fundamental building block in causing autism and its associated difficulties."
The Medical Research Council funded study is published on the 12th of July, in the journal Translational Psychiatry.
Previous research has found that people with autism often struggle to read people's emotions and that their brains process emotional facial expressions differently to people without autism. However, this is the first time scientists have found siblings of individuals with autism have a similar reduction in brain activity when viewing others' emotions.
In one of the largest functional MRI (fMRI) studies
of autism ever conducted, the researchers studied 40 families who had both a teenager with autism and a sibling without autism. Additionally, they recruited 40 teenagers with no family history of autism. The 120 participants were given fMRI scans while viewing a series of photographs of faces which were either neutral or expressing an emotion such as happiness. By comparing the brain's activity when viewing a happy verses a neutral face, the scientists were able to observe the areas within the brain that respond to this emotion.
Despite the fact that the siblings of those with autism did not have a diagnosis of autism or Asperger syndrome, they had decreased activity in various areas of the brain (including those associated with empathy, understanding others' emotions and processing information from faces) compared to those with no family history of autism. The scans of those with autism revealed that the same areas of the brain as their siblings were also underactive, but to a greater degree. (These brain regions included the temporal poles, the superior temporal sulcus, the superior frontal gyrus, the dorsomedial prefrontal cortex and the fusiform face area.)
Because the siblings without autism and the controls differed only in terms of the siblings having a family history of autism, the brain activity differences can be attributed to the same genes that give the sibling their genetic risk for autism.
Explaining why only one of the siblings might develop autism when both have the same biomarker, Dr Spencer said: "It is likely that in the sibling who develops autism additional as yet unknown steps -- such as further genetic, brain structure or function differences -- take place to cause autism."
It is known that in a family where one child already has autism, the chances of a subsequent child developing autism are at least 20 times higher than in the general population. The reason for the enhanced risk, and the reason why two siblings can be so differently affected, are key unresolved questions in the field of autism research, and Dr Spencer's group's findings begin to shed light on these fundamental questions.
Professor Chris Kennard, chairman of the Medical Research Council funding board for the research, said: "This is the first time that a brain response to different human facial emotions has been shown to have similarities in people with autism and their unaffected brothers and sisters. Innovative research like this improves our fundamental understanding of how autism is passed through generations affecting some and not others. This is an important contribution to the Medical Research Council's strategy to use sophisticated techniques to uncover underpinning brain processes, to understand predispositions for disease, and to target treatments to the subtypes of complex disorders such as autism."
Dr Michael Spencer, who led the study from the University's Autism Research Centre, said: "The findings provide a springboard to investigate what specific genes are associated with this biomarker. The brain's response to facial emotion could be a fundamental building block in causing autism and its associated difficulties."
The Medical Research Council funded study is published on the 12th of July, in the journal Translational Psychiatry.
Previous research has found that people with autism often struggle to read people's emotions and that their brains process emotional facial expressions differently to people without autism. However, this is the first time scientists have found siblings of individuals with autism have a similar reduction in brain activity when viewing others' emotions.
In one of the largest functional MRI (fMRI) studies
of autism ever conducted, the researchers studied 40 families who had both a teenager with autism and a sibling without autism. Additionally, they recruited 40 teenagers with no family history of autism. The 120 participants were given fMRI scans while viewing a series of photographs of faces which were either neutral or expressing an emotion such as happiness. By comparing the brain's activity when viewing a happy verses a neutral face, the scientists were able to observe the areas within the brain that respond to this emotion.
Despite the fact that the siblings of those with autism did not have a diagnosis of autism or Asperger syndrome, they had decreased activity in various areas of the brain (including those associated with empathy, understanding others' emotions and processing information from faces) compared to those with no family history of autism. The scans of those with autism revealed that the same areas of the brain as their siblings were also underactive, but to a greater degree. (These brain regions included the temporal poles, the superior temporal sulcus, the superior frontal gyrus, the dorsomedial prefrontal cortex and the fusiform face area.)
Because the siblings without autism and the controls differed only in terms of the siblings having a family history of autism, the brain activity differences can be attributed to the same genes that give the sibling their genetic risk for autism.
Explaining why only one of the siblings might develop autism when both have the same biomarker, Dr Spencer said: "It is likely that in the sibling who develops autism additional as yet unknown steps -- such as further genetic, brain structure or function differences -- take place to cause autism."
It is known that in a family where one child already has autism, the chances of a subsequent child developing autism are at least 20 times higher than in the general population. The reason for the enhanced risk, and the reason why two siblings can be so differently affected, are key unresolved questions in the field of autism research, and Dr Spencer's group's findings begin to shed light on these fundamental questions.
Professor Chris Kennard, chairman of the Medical Research Council funding board for the research, said: "This is the first time that a brain response to different human facial emotions has been shown to have similarities in people with autism and their unaffected brothers and sisters. Innovative research like this improves our fundamental understanding of how autism is passed through generations affecting some and not others. This is an important contribution to the Medical Research Council's strategy to use sophisticated techniques to uncover underpinning brain processes, to understand predispositions for disease, and to target treatments to the subtypes of complex disorders such as autism."
Tuesday, June 22, 2010
Epilepsy Drug Taken When Pregnant May Increase Risk Of Autism In Children
A new study shows that women who take the epilepsy drug valproate while pregnant may significantly increase their child's risk of developing autism. The preliminary research is published in the December 2, 2008, print issue of Neurology.
A new study shows that women who take the epilepsy drug valproate while pregnant may significantly increase their child's risk of developing autism. The preliminary research is published in the December 2, 2008, print issue of Neurology.
"The potential risk for autism in this study was substantial for children whose mothers took valproate while pregnant, but more research needs to be done since these are early findings," says study author Gus Baker, PhD, FBPsS, of the University of Liverpool in the United Kingdom."However, women who take valproate while pregnant should be informed of the possible risks of autism and are encouraged to discuss them with their doctor. Those who are taking valproate should not stop their treatment without speaking to their doctor first."
Other studies have shown that valproate is more likely to cause birth defects than other epilepsy drugs.
Symptoms of autism include difficulty in language development, a lack of attention, social problems and the inability to understand other people's feelings.
The study was conducted by the Liverpool and Manchester Neurodevelopment Group, a multidisciplinary group consisting of psychologists, geneticists, neurologists, midwives and support staff.
A new study shows that women who take the epilepsy drug valproate while pregnant may significantly increase their child's risk of developing autism. The preliminary research is published in the December 2, 2008, print issue of Neurology.
"The potential risk for autism in this study was substantial for children whose mothers took valproate while pregnant, but more research needs to be done since these are early findings," says study author Gus Baker, PhD, FBPsS, of the University of Liverpool in the United Kingdom."However, women who take valproate while pregnant should be informed of the possible risks of autism and are encouraged to discuss them with their doctor. Those who are taking valproate should not stop their treatment without speaking to their doctor first."
Other studies have shown that valproate is more likely to cause birth defects than other epilepsy drugs.
Symptoms of autism include difficulty in language development, a lack of attention, social problems and the inability to understand other people's feelings.
The study was conducted by the Liverpool and Manchester Neurodevelopment Group, a multidisciplinary group consisting of psychologists, geneticists, neurologists, midwives and support staff.
Tuesday, June 15, 2010
Children With Autistic Traits Remain Undiagnosed
ScienceDaily (Apr. 12, 2010)
There has been a major increase in the incidence of autism over the last twenty years. While people have differing opinions as to why this is (environment, vaccines, mother's age, better diagnostic practice, more awareness etc.) there are still many children who have autistic traits that are never diagnosed clinically. Therefore, they do not receive the support they need through educational or health services.
In recent studies these undiagnosed children have been included in estimates of how many children have autism spectrum disorder, or an ASD (which includes both autism and Asperger's syndrome). Such studies have estimated that one in every hundred children has an ASD.
A study published in a recent issue of the Journal of Child Psychology and Psychiatry found that a large number of undiagnosed children displayed autistic traits: repetitive behaviors, impairments in social interaction, and difficulties with communication. These traits were at levels comparable to the traits displayed by children who held a clinical diagnosis (all diagnosed between years one and twelve). However, the undiagnosed children were not deemed eligible for extra support at school or by specialized health services.
The lead researcher of the study, Ginny Russell, asks, "ASD diagnosis currently holds the key to unlocking intervention from school systems and health programs. Perhaps these resources should be extended and available for children who show autistic impairments but remain undiagnosed" Russell points out that the study also shows that there is a gender bias in diagnosing children with Autistic Spectrum Disorders -- boys are more likely to receive a diagnosis than girls, even when they display equally severe symptoms.
There has been a major increase in the incidence of autism over the last twenty years. While people have differing opinions as to why this is (environment, vaccines, mother's age, better diagnostic practice, more awareness etc.) there are still many children who have autistic traits that are never diagnosed clinically. Therefore, they do not receive the support they need through educational or health services.
In recent studies these undiagnosed children have been included in estimates of how many children have autism spectrum disorder, or an ASD (which includes both autism and Asperger's syndrome). Such studies have estimated that one in every hundred children has an ASD.
A study published in a recent issue of the Journal of Child Psychology and Psychiatry found that a large number of undiagnosed children displayed autistic traits: repetitive behaviors, impairments in social interaction, and difficulties with communication. These traits were at levels comparable to the traits displayed by children who held a clinical diagnosis (all diagnosed between years one and twelve). However, the undiagnosed children were not deemed eligible for extra support at school or by specialized health services.
The lead researcher of the study, Ginny Russell, asks, "ASD diagnosis currently holds the key to unlocking intervention from school systems and health programs. Perhaps these resources should be extended and available for children who show autistic impairments but remain undiagnosed" Russell points out that the study also shows that there is a gender bias in diagnosing children with Autistic Spectrum Disorders -- boys are more likely to receive a diagnosis than girls, even when they display equally severe symptoms.
Thursday, May 27, 2010
Gene Variants Lead to Autism and Mental Retardation: Inner Structure of Nerve Synapses Defective in Patients
ScienceDaily (May 26, 2010) — Researchers working with Professor Gudrun Rappold, Director of the Department of Molecular Human Genetics at Heidelberg University Hospital, have discovered previously unknown mutations in autistic and mentally impaired patients in what is known as the SHANK2 gene, a gene that is partially responsible for linking nerve cells.
However, a single gene mutation is not always enough to trigger the illness. In some cases, a certain threshold of mutation must be exceeded. The researchers conclude from their results that a correct inner structure of the nerve cell synapses is necessary to enable the normal development of language, social competence, and cognitive capacity. Essential for the success of the project were the studies by the Heidelberg research team with the doctoral student Simone Berkel and collaboration with a Canadian research team headed by Steve Scherer.
The study has already been published online in the leading scientific journal Nature Genetics.
Autism is a congenital perception and information-processing disorder of the brain that is often associated with low intelligence, but also with above-average intelligence. The disease is characterized by limited social communication and stereotypical or ritualized behavior. Men are affected much more frequently than women. Autism and mental retardation can occur together but also independently of one another and are determined to a great extent by hereditary factors. Some of the responsible genes have already been identified but the precise genetic mechanisms have not yet been explained.
Genetic makeup of hundreds of patients analyzed
Professor Rappold and her team focused their studies on the SHANK2 gene, which encodes a structural protein at the nerve cell synapses. It is responsible for the mesh structure of the basic substance in the postsynapse. Only when the postsynapse is properly structured can nerve impulses be correctly transmitted. The researchers analyzed the genetic material of a total of 396 patients with autism and 184 patients with mental retardation. They found different mutations in their SHANK2 genes in the area of individual base pairs, but also variants in the number of gene copies. The mutations led to varying degrees of symptoms. None of the observed gene variants occurred in healthy control persons. "Apparently an intact postsynaptic structure is especially important for the development of cognitive functions, language, and social competence," explained Professor Rappold.
Identical mutations as the cause of different diseases
Some of the genetic mutations identified were new occurrences of mutations that were not inherited from the parents, but some of the mutations were also found in one parent. Since there are also healthy carriers of gene variants, we must assume that a certain threshold of gene mutations must be exceeded for the disease to appear. "Moreover, the same mutation can be present in an autistic patient with normal intelligence and in a mentally impaired patient," said Professor Rappold. There is some overlap in the clinical symptoms of mental retardation and autism, which can now be explained by a common genetic cause.
A revised sample coordinates the mod wallet.
However, a single gene mutation is not always enough to trigger the illness. In some cases, a certain threshold of mutation must be exceeded. The researchers conclude from their results that a correct inner structure of the nerve cell synapses is necessary to enable the normal development of language, social competence, and cognitive capacity. Essential for the success of the project were the studies by the Heidelberg research team with the doctoral student Simone Berkel and collaboration with a Canadian research team headed by Steve Scherer.
The study has already been published online in the leading scientific journal Nature Genetics.
Autism is a congenital perception and information-processing disorder of the brain that is often associated with low intelligence, but also with above-average intelligence. The disease is characterized by limited social communication and stereotypical or ritualized behavior. Men are affected much more frequently than women. Autism and mental retardation can occur together but also independently of one another and are determined to a great extent by hereditary factors. Some of the responsible genes have already been identified but the precise genetic mechanisms have not yet been explained.
Genetic makeup of hundreds of patients analyzed
Professor Rappold and her team focused their studies on the SHANK2 gene, which encodes a structural protein at the nerve cell synapses. It is responsible for the mesh structure of the basic substance in the postsynapse. Only when the postsynapse is properly structured can nerve impulses be correctly transmitted. The researchers analyzed the genetic material of a total of 396 patients with autism and 184 patients with mental retardation. They found different mutations in their SHANK2 genes in the area of individual base pairs, but also variants in the number of gene copies. The mutations led to varying degrees of symptoms. None of the observed gene variants occurred in healthy control persons. "Apparently an intact postsynaptic structure is especially important for the development of cognitive functions, language, and social competence," explained Professor Rappold.
Identical mutations as the cause of different diseases
Some of the genetic mutations identified were new occurrences of mutations that were not inherited from the parents, but some of the mutations were also found in one parent. Since there are also healthy carriers of gene variants, we must assume that a certain threshold of gene mutations must be exceeded for the disease to appear. "Moreover, the same mutation can be present in an autistic patient with normal intelligence and in a mentally impaired patient," said Professor Rappold. There is some overlap in the clinical symptoms of mental retardation and autism, which can now be explained by a common genetic cause.
A revised sample coordinates the mod wallet.
Monday, May 24, 2010
Britain bans doctor who linked autism to vaccine
By MARIA CHENG, AP Medical Writer Maria Cheng, Ap Medical Writer – Mon May 24, 9:30 pm ET
LONDON – The doctor whose research linking autism and the vaccine for measles, mumps and rubella influenced millions of parents to refuse the shot for their children was banned Monday from practicing medicine in his native Britain.
Dr. Andrew Wakefield's 1998 study was discredited — but vaccination rates have never fully recovered and he continues to enjoy a vocal following, helped in the U.S. by endorsements from celebrities like Jim Carrey and Jenny McCarthy
Wakefield was the first researcher to publish a peer-reviewed study suggesting a connection between autism and the vaccine for measles, mumps and rubella. Legions of parents abandoned the vaccine, leading to a resurgence of measles in Western countries where it had been mostly stamped out. There are outbreaks across Europe every year and sporadic outbreaks in the U.S.
"That is Andrew Wakefield's legacy," said Paul Offit, chief of infectious diseases at the Children's Hospital of Philadelphia. "The hospitalizations and deaths of children from measles who could have easily avoided the disease."
Wakefield's discredited theories had a tremendous impact in the U.S., Offit said, adding: "He gave heft to the notion that vaccines in general cause autism."
In Britain, Wakefield's research led to a huge decline in the number of children receiving the MMR vaccine: from 95 percent in 1995 — enough to prevent measles outbreaks — to 50 percent in parts of London in the early 2000s. Rates have begun to recover, though not enough to prevent outbreaks. In 2006, a 13-year-old boy became the first person to die from measles in Britain in 14 years.
"The false suggestion of a link between autism and the MMR vaccine has done untold damage to the UK vaccination program," said Terence Stephenson, president of the Royal College of Paediatrics and Child Health. "Overwhelming scientific evidence shows that it is safe."
On Monday, Britain's General Medical Council, which licenses and oversees doctors, found Wakefield guilty of serious professional misconduct and stripped him of the right to practice medicine in the U.K. Wakefield said he plans to appeal the ruling, which takes effect within 28 days.
The council was acting on a finding in January that Wakefield and two other doctors showed a "callous disregard" for the children in their study, published in 1998 in the medical journal Lancet. The medical body said Wakefield took blood samples from children at his son's birthday party, paying them 5 pounds (about $7.20) each and later joked about the incident.
The study has since been widely rejected. From 1998-2004, studies in journals including the Lancet, the New England Journal of Medicine, Pediatrics and BMJ published papers showing no link between autism and the measles vaccine.
Wakefield moved to the U.S. in 2004 and set up an autism research center in Austin, Texas, where he gained a wide following despite being unlicensed as a doctor there and facing skepticism from the medical community. He quit earlier this year.
Offit said he doubted Britain's decision to strip the 53-year-old Wakefield of his medical license would convince many parents that vaccines are safe.
"He's become almost like a Christ-like figure and it doesn't matter that science has proven him wrong," Offit said. "He is a hero for parents who think no one else is listening to them."
Wakefield told The Associated Press Monday's decision was a sad day for British medicine. "None of this alters the fact that vaccines can cause autism," he said.
"These parents are not going away; the children are not going to go away and I most certainly am not going away," he said on NBC's "Today Show."
Wakefield claimed the U.S. government has been settling cases of vaccine-induced autism since 1991.
However, two rulings by a special branch of the U.S. Court of Federal Claims in March and last year found no link between vaccines and autism. More than 5,500 claims have been filed by families seeking compensation for children they claim were hurt by the vaccine.
Wakefield has won support from parents suspicious of vaccines, including Hollywood celebrities.
McCarthy, who has an autistic son, issued a statement in February with then boyfriend Carrey asserting Wakefield was "being vilified through a well-orchestrated smear campaign."
"It is our most sincere belief that Dr. Wakefield and parents of children with autism around the world are being subjected to a remarkable media campaign engineered by vaccine manufacturers," the actors said.
McCarthy, whose best-seller "Louder Than Words" details her search for treatments for her son Evan, wrote the foreword for a new book by Wakefield about autism and vaccines.
In Monday's ruling, the medical council said Wakefield abused his position as a doctor and "brought the medical profession into disrepute."
At the time of his study, Wakefield was working as a gastroenterologist at London's Royal Free Hospital and did not have approval for the research. The study suggested autistic children had a bowel disease and raised the possibility of a link between autism and vaccines. He had also been paid to advise lawyers representing parents who believed their children had been hurt by the MMR vaccine.
Ten of the study's authors later renounced its conclusions and it was retracted by the Lancet in February.
At least a dozen British medical associations, including the Royal College of Physicians, the Medical Research Council and the Wellcome Trust have issued statements verifying the safety of the measles, mumps and rubella vaccine.
This verdict is not about (the measles) vaccine," said Adam Finn, a professor of pediatrics at the University of Bristol Medical School. "We all now know that the vaccine is remarkably safe and enormously effective... We badly need to put this right for the sake of our own children and children worldwide."
LONDON – The doctor whose research linking autism and the vaccine for measles, mumps and rubella influenced millions of parents to refuse the shot for their children was banned Monday from practicing medicine in his native Britain.
Dr. Andrew Wakefield's 1998 study was discredited — but vaccination rates have never fully recovered and he continues to enjoy a vocal following, helped in the U.S. by endorsements from celebrities like Jim Carrey and Jenny McCarthy
Wakefield was the first researcher to publish a peer-reviewed study suggesting a connection between autism and the vaccine for measles, mumps and rubella. Legions of parents abandoned the vaccine, leading to a resurgence of measles in Western countries where it had been mostly stamped out. There are outbreaks across Europe every year and sporadic outbreaks in the U.S.
"That is Andrew Wakefield's legacy," said Paul Offit, chief of infectious diseases at the Children's Hospital of Philadelphia. "The hospitalizations and deaths of children from measles who could have easily avoided the disease."
Wakefield's discredited theories had a tremendous impact in the U.S., Offit said, adding: "He gave heft to the notion that vaccines in general cause autism."
In Britain, Wakefield's research led to a huge decline in the number of children receiving the MMR vaccine: from 95 percent in 1995 — enough to prevent measles outbreaks — to 50 percent in parts of London in the early 2000s. Rates have begun to recover, though not enough to prevent outbreaks. In 2006, a 13-year-old boy became the first person to die from measles in Britain in 14 years.
"The false suggestion of a link between autism and the MMR vaccine has done untold damage to the UK vaccination program," said Terence Stephenson, president of the Royal College of Paediatrics and Child Health. "Overwhelming scientific evidence shows that it is safe."
On Monday, Britain's General Medical Council, which licenses and oversees doctors, found Wakefield guilty of serious professional misconduct and stripped him of the right to practice medicine in the U.K. Wakefield said he plans to appeal the ruling, which takes effect within 28 days.
The council was acting on a finding in January that Wakefield and two other doctors showed a "callous disregard" for the children in their study, published in 1998 in the medical journal Lancet. The medical body said Wakefield took blood samples from children at his son's birthday party, paying them 5 pounds (about $7.20) each and later joked about the incident.
The study has since been widely rejected. From 1998-2004, studies in journals including the Lancet, the New England Journal of Medicine, Pediatrics and BMJ published papers showing no link between autism and the measles vaccine.
Wakefield moved to the U.S. in 2004 and set up an autism research center in Austin, Texas, where he gained a wide following despite being unlicensed as a doctor there and facing skepticism from the medical community. He quit earlier this year.
Offit said he doubted Britain's decision to strip the 53-year-old Wakefield of his medical license would convince many parents that vaccines are safe.
"He's become almost like a Christ-like figure and it doesn't matter that science has proven him wrong," Offit said. "He is a hero for parents who think no one else is listening to them."
Wakefield told The Associated Press Monday's decision was a sad day for British medicine. "None of this alters the fact that vaccines can cause autism," he said.
"These parents are not going away; the children are not going to go away and I most certainly am not going away," he said on NBC's "Today Show."
Wakefield claimed the U.S. government has been settling cases of vaccine-induced autism since 1991.
However, two rulings by a special branch of the U.S. Court of Federal Claims in March and last year found no link between vaccines and autism. More than 5,500 claims have been filed by families seeking compensation for children they claim were hurt by the vaccine.
Wakefield has won support from parents suspicious of vaccines, including Hollywood celebrities.
McCarthy, who has an autistic son, issued a statement in February with then boyfriend Carrey asserting Wakefield was "being vilified through a well-orchestrated smear campaign."
"It is our most sincere belief that Dr. Wakefield and parents of children with autism around the world are being subjected to a remarkable media campaign engineered by vaccine manufacturers," the actors said.
McCarthy, whose best-seller "Louder Than Words" details her search for treatments for her son Evan, wrote the foreword for a new book by Wakefield about autism and vaccines.
In Monday's ruling, the medical council said Wakefield abused his position as a doctor and "brought the medical profession into disrepute."
At the time of his study, Wakefield was working as a gastroenterologist at London's Royal Free Hospital and did not have approval for the research. The study suggested autistic children had a bowel disease and raised the possibility of a link between autism and vaccines. He had also been paid to advise lawyers representing parents who believed their children had been hurt by the MMR vaccine.
Ten of the study's authors later renounced its conclusions and it was retracted by the Lancet in February.
At least a dozen British medical associations, including the Royal College of Physicians, the Medical Research Council and the Wellcome Trust have issued statements verifying the safety of the measles, mumps and rubella vaccine.
This verdict is not about (the measles) vaccine," said Adam Finn, a professor of pediatrics at the University of Bristol Medical School. "We all now know that the vaccine is remarkably safe and enormously effective... We badly need to put this right for the sake of our own children and children worldwide."
Thursday, May 13, 2010
Brain clue may explain condition's 'hug avoidance'
Delays at crucial points during the development of the brain in the womb may explain why people with a condition linked to autism do not like hugs.
A study in mice with fragile X syndrome found wiring in the part of the brain that responds to touch is formed late.
The findings may help explain why people with the condition are hypersensitive to physical contact, the researchers wrote in Neuron.
It also points to key stages when treatment could be most effective.
Fragile X syndrome is caused by a mutant gene in the X chromosome that interferes in the production of a protein called fragile X mental retardation protein (FMRP).
Under normal circumstances, the protein directs the formation of other proteins that build synapses in the brain.
Boys are usually more severely affected with the condition - which is the leading known cause of autism - because they have only one X chromosome.
In addition to mental impairment, hyperactivity, emotional and behavioural problems, anxiety and mood swings, people with fragile X also show what doctors call "tactile defensiveness", which means they do not make eye contact and do not like physical contact and are hypersensitive to touch and sound.
Connections
By recording electrical signals in the brains of mice, bred to mimic the condition, the researchers found that connections in the sensory cortex in the brain were late to mature.
This "mistiming" may trigger a domino effect and cause further problems with the correct wiring of the brain, they concluded.
The study also found these changes in the brain's connections occur much earlier than previously thought, midway through a baby's development in the womb.
And it suggests there are key "windows" when treatments for fragile X and autism could be most effective, they said.
Professor Peter Kind, who led the study at the University of Edinburgh, added: "We've learned these changes happen much earlier than previously thought, which gives valuable insight into when we should begin therapeutic intervention for people with these conditions.
"It also has implications for the treatment of autism since the changes in the brains of fragile X and autistic people are thought to significantly overlap."
Dr Gina Gómez de la Cuesta, from the National Autistic Society, said research into fragile X syndrome could help understanding of certain aspects of autism.
"Autism is common in people with fragile X syndrome, however there are many other causes of autism, most of which are not yet fully understood.
"Understanding how the brain works when a person has fragile X syndrome could help put some of the pieces together about what is happening in the brain when a person has autism, but it is not the whole story.
"Animal research can tell us a lot about genetics and the brain, but it is only a small part of the picture and further research would be required before we fully understand any links to autism."
A study in mice with fragile X syndrome found wiring in the part of the brain that responds to touch is formed late.
The findings may help explain why people with the condition are hypersensitive to physical contact, the researchers wrote in Neuron.
It also points to key stages when treatment could be most effective.
Fragile X syndrome is caused by a mutant gene in the X chromosome that interferes in the production of a protein called fragile X mental retardation protein (FMRP).
Under normal circumstances, the protein directs the formation of other proteins that build synapses in the brain.
Boys are usually more severely affected with the condition - which is the leading known cause of autism - because they have only one X chromosome.
In addition to mental impairment, hyperactivity, emotional and behavioural problems, anxiety and mood swings, people with fragile X also show what doctors call "tactile defensiveness", which means they do not make eye contact and do not like physical contact and are hypersensitive to touch and sound.
Connections
By recording electrical signals in the brains of mice, bred to mimic the condition, the researchers found that connections in the sensory cortex in the brain were late to mature.
This "mistiming" may trigger a domino effect and cause further problems with the correct wiring of the brain, they concluded.
The study also found these changes in the brain's connections occur much earlier than previously thought, midway through a baby's development in the womb.
And it suggests there are key "windows" when treatments for fragile X and autism could be most effective, they said.
Professor Peter Kind, who led the study at the University of Edinburgh, added: "We've learned these changes happen much earlier than previously thought, which gives valuable insight into when we should begin therapeutic intervention for people with these conditions.
"It also has implications for the treatment of autism since the changes in the brains of fragile X and autistic people are thought to significantly overlap."
Dr Gina Gómez de la Cuesta, from the National Autistic Society, said research into fragile X syndrome could help understanding of certain aspects of autism.
"Autism is common in people with fragile X syndrome, however there are many other causes of autism, most of which are not yet fully understood.
"Understanding how the brain works when a person has fragile X syndrome could help put some of the pieces together about what is happening in the brain when a person has autism, but it is not the whole story.
"Animal research can tell us a lot about genetics and the brain, but it is only a small part of the picture and further research would be required before we fully understand any links to autism."
Friday, April 2, 2010
Autistic Kids At The Movies Where Shhhh Is'nt Allowed
On April 10, thousands of children with autism will be able to do something that for many of them was impossible until recently: go to the movies. They'll see How to Train Your Dragon at one of 93 "sensory-friendly" screenings in 47 cities across 30 states. The lights will dim but remain on, the volume will be lowered, the movie will start promptly at 10 a.m. with no previews, families with special dietary needs will be allowed to bring snacks from home, and if the kids yell or even stroll around the theater, no one will complain.
April Autism Awareness Month marks the first anniversary of the Sensory Friendly Films program, a joint venture of AMC Entertainment and the Autism Society. Screenings of the G- or PG-rated movies, all newly released, are held once a month on a Saturday morning. Expansion to other cities is planned.
A regular at the screenings is Marianna Pollock of Virginia Beach, Va., and her 6-year-old son Xander. "We attempted a regular movie a few times," says Pollock. "We always ended up having to leave within the first 15 minutes because Xander gets so excited that he flaps and makes noise. It was very stressful."
Xander's behavior at the movies is typical for many people with autism, which the Centers for Disease Control and Prevention estimates affects 1 in 110 children. "One of the challenges for people with an autism spectrum disorder is coping with strong sensory stimulation," says psychologist Sandra Harris, who runs the Douglass Developmental Disabilities Center at Rutgers University in New Brunswick, N.J. "They may be overwhelmed by loud sounds, bright lights, crowds of people. A person of any age with an ASD may flap his or her hands, twist her fingers, call out or rock when she is excited by an event such as a movie."
Silvia Townsend of San Diego took her 12-year-old son Bailey to a regular movie. Once. "It was horrible," says Townsend. "He was terrified when the lights turned off. And when the loud music started, he was covering his ears and started screaming in obvious pain." Now Bailey loves attending sensory-friendly films.
So does 18-year-old Matthew Kay, who has severe autism and attends the films with other young adults and the staff of the group home he lives in near San Diego. The last time Matthew was able to attend a regular movie, he was 4.
The idea for the films first came about in 2007 when Marianne Ross, of Elkridge, Md., took her then 7-year-old daughter Meaghan, who has autism, to see Hairspray. Ross purposely picked an early matinee, when there would be fewer people. "Meaghan loves Zac Efron, so when he came onscreen, she just danced, twirled, flapped her hands and jumped up and down." Several patrons complained, and the manager asked the Rosses to leave. "I was so frustrated, angry and upset," recalls Ross, "because Meaghan had been so happy. I thought, There's got to be a lot of children in the same situation."
The next day, Ross called her local AMC movie theater in Columbia, Md., and spoke to manager Dan Harris. She asked if he'd be willing to set up a special screening. Harris, who had never known anyone with autism, met with Ross, heard her suggestions and came up with some adaptations to make the screening more sensory-friendly to kids with the disorder.
Ross put the word out about the upcoming screening through her local Autism Society chapter. "We didn't know if we'd have an empty auditorium," says Harris. "We had 300 seats, and we had to turn people away. I knew we were on to something."
Harris held three more monthly screenings, then contacted AMC's national headquarters in Kansas City, Mo., where he spoke with community-relations manager Cindy Huffstickler. She thought it was a great idea and was surprised no one had thought of it before. Huffstickler then contacted the Autism Society's national headquarters, which got its chapters behind a few national test screenings that proved just as successful.
"Attending a film where you know everyone in the theater is either in the same situation as you or is at least informed that the 'Silence is golden' policy doesn't apply today takes the tension away," says Angela Vandersteen of Greenwood, Ind., who takes her 5-year-old son Ray to the screenings. When Marianne Ross takes Meaghan to the movies, she also takes along her 8-year-old son Gavin, who does not have autism; he has developed a network of friends who are siblings of autistic kids at the screenings.
Even families of children without autism but with other special needs, like those with physical disabilities, have started attending the screenings, citing the sense of acceptance they feel there.
"Our children are constantly under scrutiny," says Xander's mother Marianna. "They look normal, so people often think they're just misbehaving. It becomes exhausting trying to validate their right to be themselves. At a sensory-friendly movie, we as a family finally get to go to a movie and relax. Boy, does that feel wonderful."
April Autism Awareness Month marks the first anniversary of the Sensory Friendly Films program, a joint venture of AMC Entertainment and the Autism Society. Screenings of the G- or PG-rated movies, all newly released, are held once a month on a Saturday morning. Expansion to other cities is planned.
A regular at the screenings is Marianna Pollock of Virginia Beach, Va., and her 6-year-old son Xander. "We attempted a regular movie a few times," says Pollock. "We always ended up having to leave within the first 15 minutes because Xander gets so excited that he flaps and makes noise. It was very stressful."
Xander's behavior at the movies is typical for many people with autism, which the Centers for Disease Control and Prevention estimates affects 1 in 110 children. "One of the challenges for people with an autism spectrum disorder is coping with strong sensory stimulation," says psychologist Sandra Harris, who runs the Douglass Developmental Disabilities Center at Rutgers University in New Brunswick, N.J. "They may be overwhelmed by loud sounds, bright lights, crowds of people. A person of any age with an ASD may flap his or her hands, twist her fingers, call out or rock when she is excited by an event such as a movie."
Silvia Townsend of San Diego took her 12-year-old son Bailey to a regular movie. Once. "It was horrible," says Townsend. "He was terrified when the lights turned off. And when the loud music started, he was covering his ears and started screaming in obvious pain." Now Bailey loves attending sensory-friendly films.
So does 18-year-old Matthew Kay, who has severe autism and attends the films with other young adults and the staff of the group home he lives in near San Diego. The last time Matthew was able to attend a regular movie, he was 4.
The idea for the films first came about in 2007 when Marianne Ross, of Elkridge, Md., took her then 7-year-old daughter Meaghan, who has autism, to see Hairspray. Ross purposely picked an early matinee, when there would be fewer people. "Meaghan loves Zac Efron, so when he came onscreen, she just danced, twirled, flapped her hands and jumped up and down." Several patrons complained, and the manager asked the Rosses to leave. "I was so frustrated, angry and upset," recalls Ross, "because Meaghan had been so happy. I thought, There's got to be a lot of children in the same situation."
The next day, Ross called her local AMC movie theater in Columbia, Md., and spoke to manager Dan Harris. She asked if he'd be willing to set up a special screening. Harris, who had never known anyone with autism, met with Ross, heard her suggestions and came up with some adaptations to make the screening more sensory-friendly to kids with the disorder.
Ross put the word out about the upcoming screening through her local Autism Society chapter. "We didn't know if we'd have an empty auditorium," says Harris. "We had 300 seats, and we had to turn people away. I knew we were on to something."
Harris held three more monthly screenings, then contacted AMC's national headquarters in Kansas City, Mo., where he spoke with community-relations manager Cindy Huffstickler. She thought it was a great idea and was surprised no one had thought of it before. Huffstickler then contacted the Autism Society's national headquarters, which got its chapters behind a few national test screenings that proved just as successful.
"Attending a film where you know everyone in the theater is either in the same situation as you or is at least informed that the 'Silence is golden' policy doesn't apply today takes the tension away," says Angela Vandersteen of Greenwood, Ind., who takes her 5-year-old son Ray to the screenings. When Marianne Ross takes Meaghan to the movies, she also takes along her 8-year-old son Gavin, who does not have autism; he has developed a network of friends who are siblings of autistic kids at the screenings.
Even families of children without autism but with other special needs, like those with physical disabilities, have started attending the screenings, citing the sense of acceptance they feel there.
"Our children are constantly under scrutiny," says Xander's mother Marianna. "They look normal, so people often think they're just misbehaving. It becomes exhausting trying to validate their right to be themselves. At a sensory-friendly movie, we as a family finally get to go to a movie and relax. Boy, does that feel wonderful."
Saturday, January 23, 2010
Brain Imaging May Help Diagnose Autism
Children with autism spectrum disorders (ASDs) process sound and language a fraction of a second slower than children without ASDs, and measuring magnetic signals that mark this delay may become a standardized way to diagnose autism.
Researchers at The Children's Hospital of Philadelphia report their findings in an online article in the journal Autism Research, published today.
"More work needs to be done before this can become a standard tool, but this pattern of delayed brain response may be refined into the first imaging biomarker for autism," said study leader Timothy P.L. Roberts, Ph.D., vice chair of Radiology Research at Children's Hospital.
ASDs are a group of childhood neurodevelopmental disorders that cause impairments in verbal communication, social interaction and behavior. ASDs are currently estimated to affect as many as one percent of U.S. children, according to a recent CDC report.
Like many neurodevelopmental disorders, in the absence of objective biological measurements, psychologists and other caregivers rely on clinical judgments such as observations of behavior to diagnose ASDs, often not until a child reaches school age. If researchers can develop imaging results into standardized diagnostic tests, they may be able to diagnose ASDs as early as infancy, permitting possible earlier intervention with treatments. They also may be able to differentiate types of ASDs (classic autism, Asperger's syndrome or other types) in individual patients.
In the current study, Roberts and colleagues used magnetoencephalography (MEG), which detects magnetic fields in the brain, similar to the way electroencephalography (EEG) detects electrical fields. Using a helmet that surrounds the child's head, the team presents a series of recorded beeps, vowels and sentences. As the child's brain responds to each sound, noninvasive detectors in the MEG machine analyze the brain's changing magnetic fields.
The researchers compared 25 children with ASDs, having a mean age of 10 years, to 17 age-matched typically developing children. The children with ASDs had an average delay of 11 milliseconds (about 1/100 of a second) in their brain responses to sounds, compared to the control children. Among the group with ASDs, the delays were similar, whether or not the children had language impairments.
"This delayed response suggests that the auditory system may be slower to develop and mature in children with ASDs," said Roberts. An 11-millisecond delay is brief, but it means, for instance, that a child with ASD, on hearing the word 'elephant' is still processing the 'el' sound while other children have moved on. The delays may cascade as a conversation progresses, and the child may lag behind typically developing peers."
A 2009 study by Roberts and colleagues sheds light on how changes in brain anatomy may account for the delays in sound processing. The study team used MEG to analyze the development of white matter in the brains of 26 typically developing children and adolescents. Because white matter carries electrical signals in the brain, signaling speed improves when neurons are better protected with an insulating sheath of a membrane material called myelin.
In this previous study, the researchers showed that normal age-related development of greater myelination corresponds with faster auditory responses in the brain. "The delayed auditory response that we find in children with ASDs may reflect delayed white matter development in these children," said Roberts.
Roberts says his team's further studies will seek to refine their imaging techniques to determine that their biomarker is specific to ASDs, and will investigate other MEG patterns found in children with ASDs in addition to auditory delays.
Grants from National Institute of Health, the Nancy Lurie Marks Family Foundation, Autism Speaks, and the Pennsylvania Department of Health supported this research. In addition, Roberts holds an endowed chair, the Oberkircher Family Chair in Pediatric Radiology at The Children's Hospital of Philadelphia. Roberts' co-authors were from Children's Hospital, including the Hospital's Center for Autism Research.
Researchers at The Children's Hospital of Philadelphia report their findings in an online article in the journal Autism Research, published today.
"More work needs to be done before this can become a standard tool, but this pattern of delayed brain response may be refined into the first imaging biomarker for autism," said study leader Timothy P.L. Roberts, Ph.D., vice chair of Radiology Research at Children's Hospital.
ASDs are a group of childhood neurodevelopmental disorders that cause impairments in verbal communication, social interaction and behavior. ASDs are currently estimated to affect as many as one percent of U.S. children, according to a recent CDC report.
Like many neurodevelopmental disorders, in the absence of objective biological measurements, psychologists and other caregivers rely on clinical judgments such as observations of behavior to diagnose ASDs, often not until a child reaches school age. If researchers can develop imaging results into standardized diagnostic tests, they may be able to diagnose ASDs as early as infancy, permitting possible earlier intervention with treatments. They also may be able to differentiate types of ASDs (classic autism, Asperger's syndrome or other types) in individual patients.
In the current study, Roberts and colleagues used magnetoencephalography (MEG), which detects magnetic fields in the brain, similar to the way electroencephalography (EEG) detects electrical fields. Using a helmet that surrounds the child's head, the team presents a series of recorded beeps, vowels and sentences. As the child's brain responds to each sound, noninvasive detectors in the MEG machine analyze the brain's changing magnetic fields.
The researchers compared 25 children with ASDs, having a mean age of 10 years, to 17 age-matched typically developing children. The children with ASDs had an average delay of 11 milliseconds (about 1/100 of a second) in their brain responses to sounds, compared to the control children. Among the group with ASDs, the delays were similar, whether or not the children had language impairments.
"This delayed response suggests that the auditory system may be slower to develop and mature in children with ASDs," said Roberts. An 11-millisecond delay is brief, but it means, for instance, that a child with ASD, on hearing the word 'elephant' is still processing the 'el' sound while other children have moved on. The delays may cascade as a conversation progresses, and the child may lag behind typically developing peers."
A 2009 study by Roberts and colleagues sheds light on how changes in brain anatomy may account for the delays in sound processing. The study team used MEG to analyze the development of white matter in the brains of 26 typically developing children and adolescents. Because white matter carries electrical signals in the brain, signaling speed improves when neurons are better protected with an insulating sheath of a membrane material called myelin.
In this previous study, the researchers showed that normal age-related development of greater myelination corresponds with faster auditory responses in the brain. "The delayed auditory response that we find in children with ASDs may reflect delayed white matter development in these children," said Roberts.
Roberts says his team's further studies will seek to refine their imaging techniques to determine that their biomarker is specific to ASDs, and will investigate other MEG patterns found in children with ASDs in addition to auditory delays.
Grants from National Institute of Health, the Nancy Lurie Marks Family Foundation, Autism Speaks, and the Pennsylvania Department of Health supported this research. In addition, Roberts holds an endowed chair, the Oberkircher Family Chair in Pediatric Radiology at The Children's Hospital of Philadelphia. Roberts' co-authors were from Children's Hospital, including the Hospital's Center for Autism Research.
Friday, January 22, 2010
Recent Rise In Certain Disorders Could Be Explained By Ongoing Human Evolution
The subtle but ongoing pressures of human evolution could explain the seeming rise of disorders such as autism, autoimmune diseases, and reproductive cancers, researchers write in the Proceedings of the National Academy of Sciences. Certain adaptations that once benefited humans may now be helping such ailments persist in spite of - or perhaps because of - advancements in modern culture and medicine.
"This work points out linkages within the plethora of new information in human genetics and the implications for human biology and public health, and also illustrates how one could teach these perspectives in medical and premedical curricula," says author Peter Ellison, John Cowles Professor of Anthropology at Harvard University.
Ellison's co-authors are Stephen Stearns of Yale University, Randolph Nesse of the University of Michigan, and Diddahally Govindaraju of the Boston University School of Medicine. The research was first presented at the Arthur M. Sackler Colloquium, co-sponsored by the National Academy of Science and the Institute of Medicine.
Colloquium presentations described in the current paper include research suggesting that:
* Autism and schizophrenia may be associated with the over-expression of paternally or maternally derived genes and influences, a hypothesis advanced by Bernard Crespi of Simon Fraser University.
* Maternal and paternal genes engage in a subtle tug-of-war well into childhood with consequences for childhood development, as posited by David Haig, George Putnam Professor of Organismic and Evolutionary Biology at Harvard.
* Humans may be susceptible to allergies, asthma, and autoimmune diseases because of increased hygiene, according to Kathleen Barnes of Johns Hopkins University. Without being exposed to intestinal worms and parasites, as our ancestors were, our immune systems are hypersensitive.
* Natural selection still influences our biology, despite advances in modern culture and medicine. Stearns found that natural selection favors heavier women and reduces the age at which a woman has her first child.
In the final presentation of the colloquium, researchers called for the integration of evolutionary perspectives into medical school curricula, to help future physicians consider health problems from an evolutionary perspective.
"We're trying to design ways to educate physicians who will have a broader perspective and not think of the human body as a perfectly designed machine," says Ellison. "Our biology is the result of many of evolutionary trade-offs, and understanding these histories and conflicts can really help the physician understand why we get sick and what we might do to stay healthy."
Previous work in evolutionary medicine helped explain why disease is so prevalent and difficult to prevent - because natural selection favors reproduction over health, biology evolves more slowly than culture, and pathogens evolve more quickly than humans.
"I think that the main take-home point is that evolution and medicine really do have things to say to each other, and some of these insights actually reduce suffering and save lives," says Stearns.
"This work points out linkages within the plethora of new information in human genetics and the implications for human biology and public health, and also illustrates how one could teach these perspectives in medical and premedical curricula," says author Peter Ellison, John Cowles Professor of Anthropology at Harvard University.
Ellison's co-authors are Stephen Stearns of Yale University, Randolph Nesse of the University of Michigan, and Diddahally Govindaraju of the Boston University School of Medicine. The research was first presented at the Arthur M. Sackler Colloquium, co-sponsored by the National Academy of Science and the Institute of Medicine.
Colloquium presentations described in the current paper include research suggesting that:
* Autism and schizophrenia may be associated with the over-expression of paternally or maternally derived genes and influences, a hypothesis advanced by Bernard Crespi of Simon Fraser University.
* Maternal and paternal genes engage in a subtle tug-of-war well into childhood with consequences for childhood development, as posited by David Haig, George Putnam Professor of Organismic and Evolutionary Biology at Harvard.
* Humans may be susceptible to allergies, asthma, and autoimmune diseases because of increased hygiene, according to Kathleen Barnes of Johns Hopkins University. Without being exposed to intestinal worms and parasites, as our ancestors were, our immune systems are hypersensitive.
* Natural selection still influences our biology, despite advances in modern culture and medicine. Stearns found that natural selection favors heavier women and reduces the age at which a woman has her first child.
In the final presentation of the colloquium, researchers called for the integration of evolutionary perspectives into medical school curricula, to help future physicians consider health problems from an evolutionary perspective.
"We're trying to design ways to educate physicians who will have a broader perspective and not think of the human body as a perfectly designed machine," says Ellison. "Our biology is the result of many of evolutionary trade-offs, and understanding these histories and conflicts can really help the physician understand why we get sick and what we might do to stay healthy."
Previous work in evolutionary medicine helped explain why disease is so prevalent and difficult to prevent - because natural selection favors reproduction over health, biology evolves more slowly than culture, and pathogens evolve more quickly than humans.
"I think that the main take-home point is that evolution and medicine really do have things to say to each other, and some of these insights actually reduce suffering and save lives," says Stearns.
High Rates Of Birth Defects Found In Autistic Children
Nearly two-thirds of the children with Autistic Spectrum Disorders recorded in the National Birth Defect Registry (NBDR) also suffer from structural birth defects, according the national nonprofit, Birth Defect Research for Children (BDRC). The group reported that most of the defects affect the face, head and central nervous systems of newborns.
Birth Defect Research for Children, a national nonprofit founded in 1982, maintains the registry to collect data from parents on all kinds of structural birth defects and functional deficits including autistic spectrum disorders. Betty Mekdeci, executive director of BDRC explains, "We designed the registry with a collaboration of prominent scientists. The registry's extensive data allows researchers to identify possible patterns underlying the incidence of birth defects as well as prenatal conditions and exposures. We are asking all parents of children with structural and functional birth defects to contact us to register for our database to continue this study."
"Our current data suggests that genetic and environmental triggers may interact to account for the increase in ASDs. We need to collect more data to confirm the pattern we are seeing."
The new analysis reveals that over 60% cases also had structural birth defects, primarily Central Nervous System (CNS) or Craniofacial Defects. The other 40% of the ASD cases reported associated developmental problems, but no reported structural birth defects.
Most frequent CNS disorders reported were Microcephaly (small head), Cerebral Palsy, Chiari Malformation (a structural defect of the brain) and Absent or Thin Corpus Callosum (the band connecting the two halves of the brain), The most frequent Craniofacial Defects included Low Set Ears, Partial Hearing Loss, Abnormal Teeth and Abnormal Facial Structure.
The registry also collects data on prenatal exposures to medications, illnesses and toxins. The most frequently reported maternal exposure was acetaminophen (AP). AP use has increased in recent years. Recent studies have reported associations between maternal AP ingestion and childhood asthma and a stomach defect called gastroschisis.
Birth Defect Research for Children, a national nonprofit founded in 1982, maintains the registry to collect data from parents on all kinds of structural birth defects and functional deficits including autistic spectrum disorders. Betty Mekdeci, executive director of BDRC explains, "We designed the registry with a collaboration of prominent scientists. The registry's extensive data allows researchers to identify possible patterns underlying the incidence of birth defects as well as prenatal conditions and exposures. We are asking all parents of children with structural and functional birth defects to contact us to register for our database to continue this study."
"Our current data suggests that genetic and environmental triggers may interact to account for the increase in ASDs. We need to collect more data to confirm the pattern we are seeing."
The new analysis reveals that over 60% cases also had structural birth defects, primarily Central Nervous System (CNS) or Craniofacial Defects. The other 40% of the ASD cases reported associated developmental problems, but no reported structural birth defects.
Most frequent CNS disorders reported were Microcephaly (small head), Cerebral Palsy, Chiari Malformation (a structural defect of the brain) and Absent or Thin Corpus Callosum (the band connecting the two halves of the brain), The most frequent Craniofacial Defects included Low Set Ears, Partial Hearing Loss, Abnormal Teeth and Abnormal Facial Structure.
The registry also collects data on prenatal exposures to medications, illnesses and toxins. The most frequently reported maternal exposure was acetaminophen (AP). AP use has increased in recent years. Recent studies have reported associations between maternal AP ingestion and childhood asthma and a stomach defect called gastroschisis.
Scientific Learning's Fast ForWord Software Approved By Australian Government As Intervention For Children With Autism
Scientific Learning Corp. (NASDAQ:SCIL) today announced that the Australian Government's Department of Families, Housing, Community Services and Indigenous Affairs has named the Fast ForWord ® family of products as an approved intervention for children under age six who are diagnosed with Autism Spectrum Disorders (ASDs).
Designed to accelerate learning by developing the student brain to process more efficiently, the Fast ForWord educational software consists of scientifically proven, intervention programs that apply neuroscience principles to build the fundamental cognitive skills required to read and learn. The strengthening of these skills results in a wide range of improved critical language and reading abilities, such as phonological awareness, phonemic awareness, fluency, vocabulary, comprehension, decoding, working memory, syntax and grammar.
In Australia, the Fast ForWord program is available to eligible children under the Helping Children with Autism funding package. Through this package, the Australian Government is working to address the need for support and services for children with ASDs. As part of the package, the government offers funding for early intervention services for children ages zero to seven who are diagnosed with an ASD. Eligible families can access the Fast ForWord program from Scientific Learning's two Value Added Representative (VAR) organizations in Australia, LearnFast Australia/Lindfield Speech Pathology & Learning Center in Sydney, New South Wales and Sonic Learning in Perth.
Designed to accelerate learning by developing the student brain to process more efficiently, the Fast ForWord educational software consists of scientifically proven, intervention programs that apply neuroscience principles to build the fundamental cognitive skills required to read and learn. The strengthening of these skills results in a wide range of improved critical language and reading abilities, such as phonological awareness, phonemic awareness, fluency, vocabulary, comprehension, decoding, working memory, syntax and grammar.
In Australia, the Fast ForWord program is available to eligible children under the Helping Children with Autism funding package. Through this package, the Australian Government is working to address the need for support and services for children with ASDs. As part of the package, the government offers funding for early intervention services for children ages zero to seven who are diagnosed with an ASD. Eligible families can access the Fast ForWord program from Scientific Learning's two Value Added Representative (VAR) organizations in Australia, LearnFast Australia/Lindfield Speech Pathology & Learning Center in Sydney, New South Wales and Sonic Learning in Perth.
Communication Problems In The Brain
Maturation disorders of nerve terminals may trigger autism; researchers in Heidelberg publish in the Proceedings of the National Academy of Sciences
For brain cells to communicate, the contacts to each other must function. The protein molecule neuroligin-1 plays an important role in this as it stimulates the necessary maturation processes at the contact sites (synapses) of the nerves. A synaptic maturation disorder is possibly involved in the development of autism. Dr. Thomas Dresbach and his team from the Institute for Anatomy and Cell Biology at the University of Heidelberg, in cooperation with the study group led by Professor Dr. Thomas Kuner at the same institute and Professor Dr. Nils Brose, Max Planck Institute for Experimental Medicine in Göttingen, have published their results in the prestigious international journal PNAS (Proceedings of the National Academy of Sciences).
One hundred billion nerve cells make our brain a thinking machine. Each of these nerve fibers produces a long extension, the axon, which terminates in numerous small knobs. Transmitters are released here that transfer information to the next nerve cell. The contact site between nerve ending and adjacent nerve cell is called a synapse. The number and location of active synapses determine which areas of the brain are especially active at a given time.
Neuroligin-1 protein necessary for maturation
The synapses of young nerve cells must mature before they can release their neurotransmitters to the full extent. Researchers were able to show using genetically modified nerve cells from mice that the postsynaptic nerve cell, the receptor, must form a sufficient amount of a certain protein molecule, neuroligin-1, to allow this maturation process to take place. In addition, the nerve endings from where information is sent must release slight amounts of neurotransmitters to stimulate the neuroligin in the postsynaptic nerve cell.
"A fully functioning contact can develop only if both sides, transmitter and receptor of information, are involved in the maturation process," explained Dr. Dresbach. If no neuroligin-1 is formed, the nerve endings remain at an immature stage and release fewer neurotransmitters; the flow of information is interrupted. The nerve endings can only whisper, so to speak.
Autism caused by a malfunction at the synapses?
"The results are significant for actual concepts about how autism develops," says Professor Dr. Joachim Kirsch, director of the Institute for Anatomy and Cell Biology. Symptoms of autism are first noticed in early childhood as an information processing disorder. The symptoms may be more or less pronounced, but all patients display weaknesses in social contacts and communication. "There are many indications that malfunctions of synaptic molecules are involved in the development of this illness. It has thus far been unclear exactly what these malfunctions are, but we now know what to look for," says Professor Kirsch. The study was funded by the FRONTIER program of the excellence initiative at the University of Heidelberg.
For brain cells to communicate, the contacts to each other must function. The protein molecule neuroligin-1 plays an important role in this as it stimulates the necessary maturation processes at the contact sites (synapses) of the nerves. A synaptic maturation disorder is possibly involved in the development of autism. Dr. Thomas Dresbach and his team from the Institute for Anatomy and Cell Biology at the University of Heidelberg, in cooperation with the study group led by Professor Dr. Thomas Kuner at the same institute and Professor Dr. Nils Brose, Max Planck Institute for Experimental Medicine in Göttingen, have published their results in the prestigious international journal PNAS (Proceedings of the National Academy of Sciences).
One hundred billion nerve cells make our brain a thinking machine. Each of these nerve fibers produces a long extension, the axon, which terminates in numerous small knobs. Transmitters are released here that transfer information to the next nerve cell. The contact site between nerve ending and adjacent nerve cell is called a synapse. The number and location of active synapses determine which areas of the brain are especially active at a given time.
Neuroligin-1 protein necessary for maturation
The synapses of young nerve cells must mature before they can release their neurotransmitters to the full extent. Researchers were able to show using genetically modified nerve cells from mice that the postsynaptic nerve cell, the receptor, must form a sufficient amount of a certain protein molecule, neuroligin-1, to allow this maturation process to take place. In addition, the nerve endings from where information is sent must release slight amounts of neurotransmitters to stimulate the neuroligin in the postsynaptic nerve cell.
"A fully functioning contact can develop only if both sides, transmitter and receptor of information, are involved in the maturation process," explained Dr. Dresbach. If no neuroligin-1 is formed, the nerve endings remain at an immature stage and release fewer neurotransmitters; the flow of information is interrupted. The nerve endings can only whisper, so to speak.
Autism caused by a malfunction at the synapses?
"The results are significant for actual concepts about how autism develops," says Professor Dr. Joachim Kirsch, director of the Institute for Anatomy and Cell Biology. Symptoms of autism are first noticed in early childhood as an information processing disorder. The symptoms may be more or less pronounced, but all patients display weaknesses in social contacts and communication. "There are many indications that malfunctions of synaptic molecules are involved in the development of this illness. It has thus far been unclear exactly what these malfunctions are, but we now know what to look for," says Professor Kirsch. The study was funded by the FRONTIER program of the excellence initiative at the University of Heidelberg.
Rate Of Autism Disorders Climbs To 1 Percent Among 8 Year Olds
Autism and related development disorders are becoming more common, with a prevalence rate approaching 1 percent among American 8-year-olds, according to new data from researchers at the University of Alabama at Birmingham (UAB) School of Public Health and the Centers for Disease Control and Prevention (CDC).
The study is a partnership between UAB, the CDC and 10 other U.S. research sites. It shows that one in 110 American 8-year-olds is classified as having an autism spectrum disorder (ASD), a 57 percent increase in ASD cases compared to four years earlier.
The new findings, published Dec. 18 in the CDC's Morbidity and Mortality Weekly Report (MMWR), highlight the need for social and educational services to help those affected by the condition, said Beverly Mulvihill, Ph.D., a UAB associate professor of public health and co-author on the study.
ASDs are a group of developmental disabilities such as autism and Asperger disorder that are characterized by delays or changes in childhood socialization, communication and behavior.
"This is a dramatic increase in the number of kids classified as autistic or documented on the spectrum of similar disorders," Mulvihill said. "It is not entirely clear what is causing the rise, but we know major collaborative efforts are needed to improve the understanding and lives of people and families impacted."
The MMWR study discusses possible factors that might contribute to the increase in ASD cases. They include a broader definition of autism disorders and a heightened awareness of ASD by parents, doctors, educators and other professionals. The findings do not address whether or not any of the increase is attributable to a true increase in the risk of developing ASD, more frequent and earlier diagnoses, and other factors.
Data comes from the Autism and Developmental Disabilities Monitoring (ADDM) Network, a collection of 11 sites in Alabama, Arizona, Colorado, Florida, Georgia, Maryland, Missouri, North Carolina, Pennsylvania, South Carolina and Wisconsin. ADDM reviewers are uniformly trained to review and confirm cases; some children included in the study have documented ASD symptoms but never received a diagnosis.
The study also found that boys are 4.5 times more likely than girls to have ASD, a finding that confirms earlier studies, says Martha Wingate, Dr.P.H., a UAB assistant professor of public health and study co-author.
"It still is not clear why males more frequently are affected," Wingate said. "One thing we know for sure is that more research is needed to quantify the effects of single or multiple factors such as diagnosis patterns, inclusion of milder cases and other components."
The ADDM sites are not selected based on any statistical pattern, but the 300,000-plus children included in the study represent 8 percent of the nation's 8-year-olds.
The Alabama Autism Surveillance Project, located within the UAB Department of Health Care Organization and Policy, is a member of the ADDM network. Funding for the project is from the CDC's National Center for Birth Defects and Developmental Disabilities Division.
About the UAB School of Public Health
The School of Public Health is a community of scholars and professionals working and teaching in varied arenas of public health with the goal of fostering research and best practices crucial to the health of our nation and its peoples. The school offers more than 20 areas of study and manages dozens of research and community-service centers.
The study is a partnership between UAB, the CDC and 10 other U.S. research sites. It shows that one in 110 American 8-year-olds is classified as having an autism spectrum disorder (ASD), a 57 percent increase in ASD cases compared to four years earlier.
The new findings, published Dec. 18 in the CDC's Morbidity and Mortality Weekly Report (MMWR), highlight the need for social and educational services to help those affected by the condition, said Beverly Mulvihill, Ph.D., a UAB associate professor of public health and co-author on the study.
ASDs are a group of developmental disabilities such as autism and Asperger disorder that are characterized by delays or changes in childhood socialization, communication and behavior.
"This is a dramatic increase in the number of kids classified as autistic or documented on the spectrum of similar disorders," Mulvihill said. "It is not entirely clear what is causing the rise, but we know major collaborative efforts are needed to improve the understanding and lives of people and families impacted."
The MMWR study discusses possible factors that might contribute to the increase in ASD cases. They include a broader definition of autism disorders and a heightened awareness of ASD by parents, doctors, educators and other professionals. The findings do not address whether or not any of the increase is attributable to a true increase in the risk of developing ASD, more frequent and earlier diagnoses, and other factors.
Data comes from the Autism and Developmental Disabilities Monitoring (ADDM) Network, a collection of 11 sites in Alabama, Arizona, Colorado, Florida, Georgia, Maryland, Missouri, North Carolina, Pennsylvania, South Carolina and Wisconsin. ADDM reviewers are uniformly trained to review and confirm cases; some children included in the study have documented ASD symptoms but never received a diagnosis.
The study also found that boys are 4.5 times more likely than girls to have ASD, a finding that confirms earlier studies, says Martha Wingate, Dr.P.H., a UAB assistant professor of public health and study co-author.
"It still is not clear why males more frequently are affected," Wingate said. "One thing we know for sure is that more research is needed to quantify the effects of single or multiple factors such as diagnosis patterns, inclusion of milder cases and other components."
The ADDM sites are not selected based on any statistical pattern, but the 300,000-plus children included in the study represent 8 percent of the nation's 8-year-olds.
The Alabama Autism Surveillance Project, located within the UAB Department of Health Care Organization and Policy, is a member of the ADDM network. Funding for the project is from the CDC's National Center for Birth Defects and Developmental Disabilities Division.
About the UAB School of Public Health
The School of Public Health is a community of scholars and professionals working and teaching in varied arenas of public health with the goal of fostering research and best practices crucial to the health of our nation and its peoples. The school offers more than 20 areas of study and manages dozens of research and community-service centers.
Landmark Consensus Articles Published In Pediatrics Acknowledge The Need To Improve Treatment Of Gastrointestinal Disorders In Individuals With Autism
A causal relationship between gastrointestinal disorders and the behavioral features of children with autism spectrum disorder has been acknowledged for years by parents caring for those affected, yet dismissed by mainstream medicine. A landmark paper, Recommendations for Evaluation and Treatment of Common Gastrointestinal Problems in Children with ASDs, a consensus report published this week in Pediatrics, is an important step forward in closing this gap. Acknowledging that certain behavioral manifestations of patients with ASD such as self-injury and poor sleep might have a GI basis is the first step toward achieving substantive therapies.
Because it was felt that many individuals with ASD might have undiagnosed medical conditions, often involving the gastrointestinal tract, representatives from the Autism Research Institute (ARI) and other autism advocacy groups worked to convene a gut consensus meeting from which the articles were derived. On May 29-30, 2008, a multidisciplinary panel of 27 clinical and research experts met in Boston, Massachusetts to develop recommendations for the evaluation and treatment of GI disorders in individuals with ASD.
ARI's Director Dr. Stephen Edelson commented, "This is truly a human rights issue; every child deserves proper medical attention--whether or not they have autism. This published report brings much-needed focus to gastrointestinal problems that are commonly associated with the autism spectrum. The conclusions of the report are clear: physicians need to be alert and responsive to such problems when treating these patients; additional research on prevalence, cause, and appropriate treatment is imperative."
Parents and physicians should be on the lookout for the most common GI symptoms reported in people with ASD: chronic constipation, abdominal pain with or without diarrhea, reflux, and abdominal bloating. Problem behaviors such as self-injury and aggression, as well as overall changes such as sleep disturbance or irritability, might be indicators of stomach pain. The authors concluded that "The approach to evaluation and diagnosis of possible underlying medical conditions, in particular GI disorders, should be no different from the standard of care for persons without ASD."
Because it was felt that many individuals with ASD might have undiagnosed medical conditions, often involving the gastrointestinal tract, representatives from the Autism Research Institute (ARI) and other autism advocacy groups worked to convene a gut consensus meeting from which the articles were derived. On May 29-30, 2008, a multidisciplinary panel of 27 clinical and research experts met in Boston, Massachusetts to develop recommendations for the evaluation and treatment of GI disorders in individuals with ASD.
ARI's Director Dr. Stephen Edelson commented, "This is truly a human rights issue; every child deserves proper medical attention--whether or not they have autism. This published report brings much-needed focus to gastrointestinal problems that are commonly associated with the autism spectrum. The conclusions of the report are clear: physicians need to be alert and responsive to such problems when treating these patients; additional research on prevalence, cause, and appropriate treatment is imperative."
Parents and physicians should be on the lookout for the most common GI symptoms reported in people with ASD: chronic constipation, abdominal pain with or without diarrhea, reflux, and abdominal bloating. Problem behaviors such as self-injury and aggression, as well as overall changes such as sleep disturbance or irritability, might be indicators of stomach pain. The authors concluded that "The approach to evaluation and diagnosis of possible underlying medical conditions, in particular GI disorders, should be no different from the standard of care for persons without ASD."
First Step Toward Needed Guidelines For Children With Autism Provided By Pediatrics Gastrointestinal Consensus Statement And Recommendations
Autism Speaks applauds the consensus statement and recommendations for the evaluation, diagnosis, and treatment of gastrointestinal (GI) disorders in children with autism spectrum disorders (ASD) released online in Pediatrics as one step in advancing physician awareness of unique challenges in the medical management of children with autism. "We are pleased to see the publication of these consensus recommendations. Autism Speaks' current efforts will take this further by creating evidence-based guidelines for physicians. The goal is to develop a comprehensive care model that will guide physicians in addressing a wide range of medical issues, including GI problems, that many individuals with autism suffer from," commented Geraldine Dawson, Ph.D., Autism Speaks chief science officer.
The two reports published today present outcomes of a meeting held in May 2008, sponsored by the Autism Forum, in which working groups participating in the meeting reviewed current evidence on the evaluation and treatment of GI disorders specifically for children with autism. The 2008 meeting from which these consensus recommendations were derived recognized that health care practitioners severely lack solid information to guide care of children with autism and GI problems and there is a need for more research data, including genetic research, as a prerequisite to develop evidence-based guidelines specific to autism.
"The Pediatrics paper represents long-sought recognition by the mainstream medical community that treatment of GI problems in children with autism requires specific and specialized approaches," reacted Dr. Dawson. "Autism Speaks has been actively engaged in the study of GI problems associated with children with autism, working toward enhanced medical community awareness for over five years through its research agenda and the Autism Speaks' Autism Treatment Network (ATN)."
Dan Coury, M.D., ATN medical director, commented, "We are delighted to see the publication of important information that can support clinicians and caregivers in providing better care for children with autism, particularly with GI concerns, as parents unfortunately very often find it difficult to identify physicians who have an understanding of these issues and are able to provide appropriate medical care for their children. GI and pediatric specialists from six of the ATN sites participated in the forum and in the development of these recommendations, which shows the power of interaction among the communities and individuals dedicated to this problem. Autism Speaks is already engaged in the crucial next step which is to move beyond these consensus-based recommendations to develop evidence-based clinical guidelines." In addition to development of evidence-based clinical guidelines for GI issues, the ATN is also currently working on evidence based clinical guidelines for medical management of sleep, and neurologic disorders associated with autism. "Delivery of evidence-based clinical guidelines will serve as excellent opportunities for future training and education of physicians," added Dr. Dawson.
The consensus statement highlights several important themes, the first emphasizing that GI problems are a genuine concern in the ASD population and that these disorders exacerbate or contribute to problem behaviors. The need for awareness of how GI problems manifest in children with autism and the potential for accompanying nutritional complications and impaired quality of life were also emphasized.
In the second paper, the authors make consensus recommendations providing guidance on how current general pediatric standards of care that can and should be applied for children with ASD. George Fuchs, M.D., a co-author on the two papers and chair of the ATN GI Committee remarked, "The recommendations provide important guidance for the clinician to adapt the current practices of care (for abdominal pain, chronic constipation and gastroesophageal reflux) for the child with autism. The recommendations from the Autism Forum meeting complement the ATN's on-going work to develop evidence-based, ASD-specific guidelines. The ATN is currently piloting newly created guidelines and monitoring their effectiveness. We anticipate this data will contribute to an evidence-based foundation to support best practices for GI problems in ASD."
Autism Speaks is committed to the sustained support of efforts that address co-morbid medical conditions in the ASD population. In recognizing that there's not enough evidence in any GI area and more research is needed, the Pediatric papers reaffirm the importance of the recent November 2009, Autism Speaks sponsored symposium and workshop on Gastrointestinal Disorders in Autism Spectrum Disorders. The symposium and workshop represented an important partnership with the American Academy of Pediatrics, and the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition (NASPGHAN) - the largest professional society for GI and nutritional specialists, and a professional authority for the development and implementation of pediatric GI guidelines. The symposium raised awareness and provided the latest scientific information to an audience of 168 researchers, clinicians, and pediatric GI and nutrition specialists, most of whom had limited expertise in autism. The symposium was followed by a workshop that brought together a diverse group of experts in GI, nutrition, pediatrics, pain, ASD, and biological research. Recommendations were developed for an expanded and targeted research agenda for the field that will address current gaps in the knowledge base and aim to advance evaluation and treatment of ASD-GI disorders. Proceedings from the meeting are scheduled to be published in 2010. A unique and important element in both the Symposium and Workshop was the inclusion of parents of children with ASD.
The two reports published today present outcomes of a meeting held in May 2008, sponsored by the Autism Forum, in which working groups participating in the meeting reviewed current evidence on the evaluation and treatment of GI disorders specifically for children with autism. The 2008 meeting from which these consensus recommendations were derived recognized that health care practitioners severely lack solid information to guide care of children with autism and GI problems and there is a need for more research data, including genetic research, as a prerequisite to develop evidence-based guidelines specific to autism.
"The Pediatrics paper represents long-sought recognition by the mainstream medical community that treatment of GI problems in children with autism requires specific and specialized approaches," reacted Dr. Dawson. "Autism Speaks has been actively engaged in the study of GI problems associated with children with autism, working toward enhanced medical community awareness for over five years through its research agenda and the Autism Speaks' Autism Treatment Network (ATN)."
Dan Coury, M.D., ATN medical director, commented, "We are delighted to see the publication of important information that can support clinicians and caregivers in providing better care for children with autism, particularly with GI concerns, as parents unfortunately very often find it difficult to identify physicians who have an understanding of these issues and are able to provide appropriate medical care for their children. GI and pediatric specialists from six of the ATN sites participated in the forum and in the development of these recommendations, which shows the power of interaction among the communities and individuals dedicated to this problem. Autism Speaks is already engaged in the crucial next step which is to move beyond these consensus-based recommendations to develop evidence-based clinical guidelines." In addition to development of evidence-based clinical guidelines for GI issues, the ATN is also currently working on evidence based clinical guidelines for medical management of sleep, and neurologic disorders associated with autism. "Delivery of evidence-based clinical guidelines will serve as excellent opportunities for future training and education of physicians," added Dr. Dawson.
The consensus statement highlights several important themes, the first emphasizing that GI problems are a genuine concern in the ASD population and that these disorders exacerbate or contribute to problem behaviors. The need for awareness of how GI problems manifest in children with autism and the potential for accompanying nutritional complications and impaired quality of life were also emphasized.
In the second paper, the authors make consensus recommendations providing guidance on how current general pediatric standards of care that can and should be applied for children with ASD. George Fuchs, M.D., a co-author on the two papers and chair of the ATN GI Committee remarked, "The recommendations provide important guidance for the clinician to adapt the current practices of care (for abdominal pain, chronic constipation and gastroesophageal reflux) for the child with autism. The recommendations from the Autism Forum meeting complement the ATN's on-going work to develop evidence-based, ASD-specific guidelines. The ATN is currently piloting newly created guidelines and monitoring their effectiveness. We anticipate this data will contribute to an evidence-based foundation to support best practices for GI problems in ASD."
Autism Speaks is committed to the sustained support of efforts that address co-morbid medical conditions in the ASD population. In recognizing that there's not enough evidence in any GI area and more research is needed, the Pediatric papers reaffirm the importance of the recent November 2009, Autism Speaks sponsored symposium and workshop on Gastrointestinal Disorders in Autism Spectrum Disorders. The symposium and workshop represented an important partnership with the American Academy of Pediatrics, and the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition (NASPGHAN) - the largest professional society for GI and nutritional specialists, and a professional authority for the development and implementation of pediatric GI guidelines. The symposium raised awareness and provided the latest scientific information to an audience of 168 researchers, clinicians, and pediatric GI and nutrition specialists, most of whom had limited expertise in autism. The symposium was followed by a workshop that brought together a diverse group of experts in GI, nutrition, pediatrics, pain, ASD, and biological research. Recommendations were developed for an expanded and targeted research agenda for the field that will address current gaps in the knowledge base and aim to advance evaluation and treatment of ASD-GI disorders. Proceedings from the meeting are scheduled to be published in 2010. A unique and important element in both the Symposium and Workshop was the inclusion of parents of children with ASD.
University Of California Davis Researchers Identify Autism Clusters In California
Researchers at UC Davis have identified 10 locations in California where the incidence of autism is higher than surrounding areas in the same region. Most of the areas, or clusters, are in locations where parents have higher-than-average levels of educational attainment. Because children with more educated parents are more likely to be diagnosed with an autism spectrum disorder, one need look no further for a cause, the authors say. The other clusters are located close to major autism treatment centers.
The clusters are located primarily in the high-population areas of Southern California and, to a lesser extent, in the San Francisco Bay Area. The researchers said that, while children born within the clusters during the study period were more likely to be diagnosed with autism, the majority of the state's children with autism were born in adjacent areas outside the clusters.
For the rigorous study, published online today in the journal Autism Research, scientists examined nearly all of the approximately 2-1/2 million births recorded in the state of California from 1996 through 2000. About 10,000 children born during that five-year period were later diagnosed with an autism spectrum disorder, according to the California Department of Developmental Services (DDS).
After mapping the state's birth cohort based on where the mothers lived at the time when their children were born, the researchers pinpointed birth locations of children who were later diagnosed with autism. The study looked for areas of higher incidence within each of the service zones of DDS's regional centers, which coordinate services for individuals with developmental disorders like autism.
"This is the first time that anyone has looked at the geography of autism births in California in order to see whether there might be some local patches of elevated environmental risk. This method ignores unknown widespread factors (such as a regional pollutant) that could increase autism incidence," said Karla Van Meter, the study's lead author. Van Meter is an epidemiologist and was a doctoral student in the UC Davis Department of Public Health Sciences and at the Center for Animal Disease Modeling and Surveillance when the study was conducted.
"This spatial study was extremely rigorous because we developed a methodology that greatly improved accuracy in identifying areas of higher autism incidence. With so many possible environmental health risk factors, we see this method as generally useful for focusing studies on exposures that are elevated in such clusters," Van Meter said.
However, the researchers said that in this investigation the clusters probably are not correlated with specific environmental pollutants or other "exposures." Rather, they correlate to areas where residents are more educated.
"What we found with these clusters was that they correlated with neighborhoods of high education or neighborhoods that were near a major treatment center for autism," said senior author Irva Hertz-Picciotto, a professor of public health sciences and a researcher with the UC Davis MIND Institute.
"In the U.S., the children of older, white and highly educated parents are more likely to receive a diagnosis of autism or autism spectrum disorder. For this reason, the clusters we found are probably not a result of a common environmental exposure. Instead, the differences in education, age and ethnicity of parents comparing births in the cluster versus those outside the cluster were striking enough to explain the clusters of autism cases," Hertz-Picciotto said.
Autism is a neurodevelopmental disability characterized by impaired social development and communication and restricted, repetitive behaviors. It is considered a lifelong condition that develops by the time a child is 3 years old. The researchers limited their study to the five-year period between 1996 and 2000 in order to allow all of the children born during that time to grow to an age by which they probably would have received a diagnosis - 6 years old.
Van Meter said that the increased risk of autism in these areas is roughly a doubling of the incidence of autism over the incidence in the surrounding zone. For example, for the cluster area located in the service zone of the San Diego Regional Center, the autism incidence was 61.2 per 10,000 births and, in the rest of the Regional Center service zone, 27.1 per 10,000 births. For the Harbor Regional Center the incidence was 103.4 and 57.8, respectively. Van Meter added that it is important to remember that most of the children with autism were not born in the cluster areas.
In Southern California, the areas of increased incidence were located within these Regional Center service zones:
1. The Westside Regional Center, headquartered in Culver City, Calif., which serves the communities of western Los Angeles County, including the cities of Culver City, Inglewood and Santa Monica;
2. The Harbor Regional Center, headquartered in Torrance, Calif., which serves southern Los Angeles County, including the cities of Bellflower, Harbor, Long Beach and Torrance;
3. The North Los Angeles County Regional Center, headquartered in Van Nuys, Calif., which serves the San Fernando and Antelope valleys - two clusters were located in this regional center's service zone.
4. The South Central Los Angeles Regional Center, headquartered in Los Angeles, which serves the communities of Compton and Gardena;
5. The Regional Center of Orange County, headquartered in Santa Ana, Calif., which serves the residents of Orange County; and
6. The Regional Center of San Diego County, headquartered in San Diego, which serves people living in Imperial and San Diego counties.
In Northern California, the areas of increased incidence were located within these regional centers' service zones:
7. The Golden Gate Regional Center, headquartered in San Francisco, which serves Marin and San Mateo counties and the City and County of San Francisco. Two clusters were located within the Golden Gate Regional Center's service zone; and
8. The San Andreas Regional Center, headquartered in Campbell, Calif., which serves Santa Clara, Santa Cruz, Monterey and San Benito counties.
Two areas of increased incidence were located in Central California regional centers' service zones:
9. The Central Valley Regional Center, headquartered in Fresno, Calif., which serves Fresno, Kings, Madera, Mariposa, Merced and Tulare counties; and
10. The Valley Mountain Regional Center, headquartered in Stockton, Calif., which serves Amador, Calaveras, San Joaquin, Stanislaus and Tuolumne counties.
The South Central Los Angeles and Valley Mountain Regional Center autism clusters were listed as "potential clusters" because their clusters met a reduced set of statistical conditions.
All of these areas were identified using a sophisticated new biostatistical testing procedure developed by Van Meter in collaboration with study co-author Lasse Christiansen and constructed on Christiansen's earlier statistical work. This method looked for combinations of events, in this case, autism, within a set of locations, in this case, births, whose occurrence would not be expected to occur at random. This is the first application of that method. UC Davis undertook the epidemiological study as a step toward identifying geographic risk factors for autism in California, Van Meter said.
The study also examined demographic factors recorded on the children's birth records that are known to be associated with both autism and residential location. These included having an older parent - a known autism risk factor. The researchers found a statistically significant but small association of the cluster areas with older parental age at the time their child was born.
Hertz-Picciotto said that the findings do not counter the idea that the environment plays a role in autism, but rather, help to focus attention toward certain types of exposures.
"Because of the strong link between demographics, particularly parental education, and the locations of clusters, other explanations for these pockets of high autism incidence, such as localized sources of exposure, are not likely," Van Meter explained.
"The risk for a child with highly educated parents to be diagnosed with autism is probably not caused by the location of the mother's residence or any local shared environmental exposures," she said. "Our result indicates that the most likely sources of environmental hazards for autism in California are in or around the home or else are widespread."
"The strong link between demographics, particularly parental education, and the locations of the clusters validated the effectiveness of the statistical method that we employed because it successfully identified areas where a known risk factor was concentrated," she added.
The clusters are located primarily in the high-population areas of Southern California and, to a lesser extent, in the San Francisco Bay Area. The researchers said that, while children born within the clusters during the study period were more likely to be diagnosed with autism, the majority of the state's children with autism were born in adjacent areas outside the clusters.
For the rigorous study, published online today in the journal Autism Research, scientists examined nearly all of the approximately 2-1/2 million births recorded in the state of California from 1996 through 2000. About 10,000 children born during that five-year period were later diagnosed with an autism spectrum disorder, according to the California Department of Developmental Services (DDS).
After mapping the state's birth cohort based on where the mothers lived at the time when their children were born, the researchers pinpointed birth locations of children who were later diagnosed with autism. The study looked for areas of higher incidence within each of the service zones of DDS's regional centers, which coordinate services for individuals with developmental disorders like autism.
"This is the first time that anyone has looked at the geography of autism births in California in order to see whether there might be some local patches of elevated environmental risk. This method ignores unknown widespread factors (such as a regional pollutant) that could increase autism incidence," said Karla Van Meter, the study's lead author. Van Meter is an epidemiologist and was a doctoral student in the UC Davis Department of Public Health Sciences and at the Center for Animal Disease Modeling and Surveillance when the study was conducted.
"This spatial study was extremely rigorous because we developed a methodology that greatly improved accuracy in identifying areas of higher autism incidence. With so many possible environmental health risk factors, we see this method as generally useful for focusing studies on exposures that are elevated in such clusters," Van Meter said.
However, the researchers said that in this investigation the clusters probably are not correlated with specific environmental pollutants or other "exposures." Rather, they correlate to areas where residents are more educated.
"What we found with these clusters was that they correlated with neighborhoods of high education or neighborhoods that were near a major treatment center for autism," said senior author Irva Hertz-Picciotto, a professor of public health sciences and a researcher with the UC Davis MIND Institute.
"In the U.S., the children of older, white and highly educated parents are more likely to receive a diagnosis of autism or autism spectrum disorder. For this reason, the clusters we found are probably not a result of a common environmental exposure. Instead, the differences in education, age and ethnicity of parents comparing births in the cluster versus those outside the cluster were striking enough to explain the clusters of autism cases," Hertz-Picciotto said.
Autism is a neurodevelopmental disability characterized by impaired social development and communication and restricted, repetitive behaviors. It is considered a lifelong condition that develops by the time a child is 3 years old. The researchers limited their study to the five-year period between 1996 and 2000 in order to allow all of the children born during that time to grow to an age by which they probably would have received a diagnosis - 6 years old.
Van Meter said that the increased risk of autism in these areas is roughly a doubling of the incidence of autism over the incidence in the surrounding zone. For example, for the cluster area located in the service zone of the San Diego Regional Center, the autism incidence was 61.2 per 10,000 births and, in the rest of the Regional Center service zone, 27.1 per 10,000 births. For the Harbor Regional Center the incidence was 103.4 and 57.8, respectively. Van Meter added that it is important to remember that most of the children with autism were not born in the cluster areas.
In Southern California, the areas of increased incidence were located within these Regional Center service zones:
1. The Westside Regional Center, headquartered in Culver City, Calif., which serves the communities of western Los Angeles County, including the cities of Culver City, Inglewood and Santa Monica;
2. The Harbor Regional Center, headquartered in Torrance, Calif., which serves southern Los Angeles County, including the cities of Bellflower, Harbor, Long Beach and Torrance;
3. The North Los Angeles County Regional Center, headquartered in Van Nuys, Calif., which serves the San Fernando and Antelope valleys - two clusters were located in this regional center's service zone.
4. The South Central Los Angeles Regional Center, headquartered in Los Angeles, which serves the communities of Compton and Gardena;
5. The Regional Center of Orange County, headquartered in Santa Ana, Calif., which serves the residents of Orange County; and
6. The Regional Center of San Diego County, headquartered in San Diego, which serves people living in Imperial and San Diego counties.
In Northern California, the areas of increased incidence were located within these regional centers' service zones:
7. The Golden Gate Regional Center, headquartered in San Francisco, which serves Marin and San Mateo counties and the City and County of San Francisco. Two clusters were located within the Golden Gate Regional Center's service zone; and
8. The San Andreas Regional Center, headquartered in Campbell, Calif., which serves Santa Clara, Santa Cruz, Monterey and San Benito counties.
Two areas of increased incidence were located in Central California regional centers' service zones:
9. The Central Valley Regional Center, headquartered in Fresno, Calif., which serves Fresno, Kings, Madera, Mariposa, Merced and Tulare counties; and
10. The Valley Mountain Regional Center, headquartered in Stockton, Calif., which serves Amador, Calaveras, San Joaquin, Stanislaus and Tuolumne counties.
The South Central Los Angeles and Valley Mountain Regional Center autism clusters were listed as "potential clusters" because their clusters met a reduced set of statistical conditions.
All of these areas were identified using a sophisticated new biostatistical testing procedure developed by Van Meter in collaboration with study co-author Lasse Christiansen and constructed on Christiansen's earlier statistical work. This method looked for combinations of events, in this case, autism, within a set of locations, in this case, births, whose occurrence would not be expected to occur at random. This is the first application of that method. UC Davis undertook the epidemiological study as a step toward identifying geographic risk factors for autism in California, Van Meter said.
The study also examined demographic factors recorded on the children's birth records that are known to be associated with both autism and residential location. These included having an older parent - a known autism risk factor. The researchers found a statistically significant but small association of the cluster areas with older parental age at the time their child was born.
Hertz-Picciotto said that the findings do not counter the idea that the environment plays a role in autism, but rather, help to focus attention toward certain types of exposures.
"Because of the strong link between demographics, particularly parental education, and the locations of clusters, other explanations for these pockets of high autism incidence, such as localized sources of exposure, are not likely," Van Meter explained.
"The risk for a child with highly educated parents to be diagnosed with autism is probably not caused by the location of the mother's residence or any local shared environmental exposures," she said. "Our result indicates that the most likely sources of environmental hazards for autism in California are in or around the home or else are widespread."
"The strong link between demographics, particularly parental education, and the locations of the clusters validated the effectiveness of the statistical method that we employed because it successfully identified areas where a known risk factor was concentrated," she added.
Tuesday, December 1, 2009
Early intervention aids children with autism: study
A new therapeutical treatment for autism that can be used to treat children as young as 18 months improves their IQ, language ability and social interaction, according to a study published Monday.
"This is the first controlled study of an intensive early intervention that is appropriate for children with autism who are less than two-and-a-half years of age," said Geraldine Dawson, lead author of the study.
"It is crucial that we can offer parents effective therapies for children in this age range," added Dawson, currently chief science officer of Autism Speaks.
"By starting as soon as the toddler is diagnosed, we hope to maximize the positive impact of the intervention."
The research used an approach known as the "Early Start Denver Model," (ESDM) which combines use of applied behavioral analysis and development "relationship-based" techniques, according to the study published in the journal Pediatrics.
The approach is the first to be used on children younger than pre-school age and yielded impressive results in treating autism, a neurodevelopmental disorder believed to affect one in 100 children in the United States.
The study was carried out over five years, and involved 48 children between the ages of 18 and 30 months who suffered from autism but had no other health issues.
The approach is the first to be used on children younger than pre-school age and yielded impressive results in treating autism, a neurodevelopmental disorder believed to affect one in 100 children in the United States.
The study was carried out over five years, and involved 48 children between the ages of 18 and 30 months who suffered from autism but had no other health issues.
The group was divided into two sections, the first of which underwent therapy using the Denver Model, while the second was referred to community-based therapy programs.
University of Washington at Seattle specialists treated the first group for 20 hours a week, in two sessions of two hours each, five days a week.
The children in the first group also received five hours of parent-delivered therapy a week.
At the end of the study, the children in the first group had improved their IQ scores by approximately 18 points, compared to an improvement of approximately 10 points in the second group, the researchers said.
Seven of the children receiving the Denver Model therapy showed enough improvement in their overall skills that their diagnosis was downgraded from autism to a milder condition, while only one child in the second group improved as significantly.
"We believe that the ESDM group made much more progress because it involved carefully structured teaching and a relationship-based approach to learning with many, many learning opportunities embedded in play," said Sally Rogers, a co-author of the study and professor of psychiatry and behavioral sciences at the University of California, Davis.
She also stressed the benefits of beginning the therapy at the earliest possible age.
"Infant brains are quite malleable so with this therapy we're trying to capitalize on the potential of learning than an infant's brain has in order to limit autism's deleterious effects, to help children lead better lives."
"This is the first controlled study of an intensive early intervention that is appropriate for children with autism who are less than two-and-a-half years of age," said Geraldine Dawson, lead author of the study.
"It is crucial that we can offer parents effective therapies for children in this age range," added Dawson, currently chief science officer of Autism Speaks.
"By starting as soon as the toddler is diagnosed, we hope to maximize the positive impact of the intervention."
The research used an approach known as the "Early Start Denver Model," (ESDM) which combines use of applied behavioral analysis and development "relationship-based" techniques, according to the study published in the journal Pediatrics.
The approach is the first to be used on children younger than pre-school age and yielded impressive results in treating autism, a neurodevelopmental disorder believed to affect one in 100 children in the United States.
The study was carried out over five years, and involved 48 children between the ages of 18 and 30 months who suffered from autism but had no other health issues.
The approach is the first to be used on children younger than pre-school age and yielded impressive results in treating autism, a neurodevelopmental disorder believed to affect one in 100 children in the United States.
The study was carried out over five years, and involved 48 children between the ages of 18 and 30 months who suffered from autism but had no other health issues.
The group was divided into two sections, the first of which underwent therapy using the Denver Model, while the second was referred to community-based therapy programs.
University of Washington at Seattle specialists treated the first group for 20 hours a week, in two sessions of two hours each, five days a week.
The children in the first group also received five hours of parent-delivered therapy a week.
At the end of the study, the children in the first group had improved their IQ scores by approximately 18 points, compared to an improvement of approximately 10 points in the second group, the researchers said.
Seven of the children receiving the Denver Model therapy showed enough improvement in their overall skills that their diagnosis was downgraded from autism to a milder condition, while only one child in the second group improved as significantly.
"We believe that the ESDM group made much more progress because it involved carefully structured teaching and a relationship-based approach to learning with many, many learning opportunities embedded in play," said Sally Rogers, a co-author of the study and professor of psychiatry and behavioral sciences at the University of California, Davis.
She also stressed the benefits of beginning the therapy at the earliest possible age.
"Infant brains are quite malleable so with this therapy we're trying to capitalize on the potential of learning than an infant's brain has in order to limit autism's deleterious effects, to help children lead better lives."
Saturday, November 7, 2009
Aspergers:A Powerful Identity, a Vanishing Diagnosis
By CLAUDIA WALLIS
Published: November 2, 2009
It is one of the most intriguing labels in psychiatry. Children with Asperger’s syndrome, a mild form of autism, are socially awkward and often physically clumsy, but many are verbal prodigies, speaking in complex sentences at early ages, reading newspapers fluently by age 5 or 6 and acquiring expertise in some preferred topic — stegosaurs, clipper ships, Interstate highways — that will astonish adults and bore their playmates to tears.
In recent years, this once obscure diagnosis, given to more than four times as many boys as girls, has become increasingly common.
Much of the growing prevalence of autism, which now affects about 1 percent of American children, according to federal data, can be attributed to Asperger’s and other mild forms of the disorder. And Asperger’s has exploded into popular culture through books and films depicting it as the realm of brilliant nerds and savantlike geniuses.
But no sooner has Asperger consciousness awakened than the disorder seems headed for psychiatric obsolescence. Though it became an official part of the medical lexicon only in 1994, the experts who are revising psychiatry’s diagnostic manual have proposed to eliminate it from the new edition, due out in 2012.
If these experts have their way, Asperger’s syndrome and another mild form of autism, pervasive developmental disorder not otherwise specified (P.D.D.-N.O.S. for short), will be folded into a single broad diagnosis, autism spectrum disorder — a category that encompasses autism’s entire range, or spectrum, from high-functioning to profoundly disabling.
“Nobody has been able to show consistent differences between what clinicians diagnose as Asperger’s syndrome and what they diagnose as mild autistic disorder,” said Catherine Lord, director of the Autism and Communication Disorders Centers at the University of Michigan, one of 13 members of a group evaluating autism and other neurodevelopmental disorders for the manual.
“Asperger’s means a lot of different things to different people,” Dr. Lord said. “It’s confusing and not terribly useful.”
Taking Asperger’s out of the manual, known as D.S.M.-V for the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders, does not mean the term will disappear. “We don’t want to say that no one can ever use this word,” Dr. Lord said, adding: “It’s not an evidence-based term. It may be something people would like to use to describe how they see themselves fitting into the spectrum.”
But the change, if approved by the manual’s editors and consultants, is likely to be controversial. The Asperger’s diagnosis is used by health insurers, researchers, state agencies and schools — not to mention people with the disorder, many of whom proudly call themselves Aspies.
Some experts worry that the loss of the label will inhibit mildly affected people from being assessed for autism. “The general public has either a neutral or fairly positive view of the term Asperger’s syndrome,” said Tony Attwood, a psychologist based in Australia who wrote “The Complete Guide to Asperger’s Syndrome” (Jessica Kingsley Publishers, 2006). But if people are told they should be evaluated for autism, he went on, “they will say: ‘No, no, no. I can talk. I have a friend. What a ridiculous suggestion!’ So we will miss the opportunity to assess people.”
The proposed changes to the autism category are part of a bigger overhaul that will largely replace the old “you have it or you don’t” model of mental illness with a more modern view — that psychiatric disorders should be seen as a continuum, with many degrees of severity. The goal is to develop “severity measures within each diagnosis,” said Dr. Darrel A. Regier, research director at the American Psychiatric Association and vice chairman of the diagnostic manual’s task force.
Another broad change is to better recognize that psychiatric patients often have many health problems affecting mind and body and that clinicians need to evaluate and treat the whole patient.
Historically, Dr. Regier said, the diagnostic manual was used to sort hospital patients based on what was judged to be their most serious problem. A patient with a primary diagnosis of major depression would not be evaluated for anxiety, for example, even though the two disorders often go hand in hand.
Similarly, a child with the autism label could not also have a diagnosis of attention deficit hyperactivity disorder, because attention problems are considered secondary to the autism. Thus, they might go untreated, or the treatment would not be covered by insurance.
The new edition, by contrast, will list not only the core issues that characterize a given diagnosis but also an array of other health problems that commonly accompany the disorder. For autism, this would most likely include anxiety, attention disorders, gastrointestinal problems, seizures and sensory differences like extreme sensitivity to noise.
Parents and advocates have been clamoring for an approach that addresses the multiple health problems that plague many children with autism. “Our kids will do much better if medical conditions like gut issues or allergies are treated,” said Lee Grossman, president of the Autism Society of America, a leading advocacy group.
The new diagnostic approach addresses another source of confusion: the current labels may change over time. “A child can look like they have P.D.D.-N.O.S., then Asperger’s, then back to autism,” Dr. Lord said. The inconsistent use of these labels has been a problem for researchers recruiting subjects for studies of autism spectrum disorder.
And it can be a problem for people seeking help. In some states, California and Texas, for example, people with traditional autistic disorder qualify for state services, while those with Asperger’s and pervasive developmental disorder do not.
A big challenge for the diagnostic manual team working on autism is how to measure severity in a condition that often causes a very uneven profile of abilities and disabilities. Mr. Grossman gives the example of a woman who serves on an advisory panel to his organization. She is nonverbal and depends on an electronic device to communicate, is prone to self-injury and relies on a personal aide. And yet “she’s absolutely brilliant, she runs a newsletter, and she’s up on all the science,” he said, adding, “Where would somebody like that come out on the rating scale?”
Recent books by people with Asperger’s give insights into the workings of some oddly beautiful minds. In “Embracing the Wide Sky” (Free Press, 2009), Daniel Tammet, a shy British math and linguistic savant, tells how he was able to learn enough Icelandic in a week to manage a television interview and how he could recite the value of pi to 22,514 decimal places by envisioning the digits “as a rolling numerical panorama” of colors, shapes and textures.
In “Look Me in the Eye” (Crown, 2007), John Elder Robison describes a painfully lonely childhood and an ability to look at a circuit design and imagine how it will transform sound — a talent he used to invent audio effects and exploding guitars for the rock band Kiss.
Not all people with Asperger’s have such extraordinary abilities, and some who do are so crippled by anxiety and social limitations that they cannot hold down a job or live on their own.
Dr. Susan E. Swedo, a senior investigator at the National Institute of Mental Health who heads the diagnostic manual group working on autism, acknowledges the difficulty of describing such a variable disorder. Dr. Swedo said the plan was to define autism by two core elements — impaired social communication and repetitive behaviors or fixated interests — and to score each of those elements for severity.
The trick is to “walk the tightrope of truth,” Dr. Swedo said, between providing clear, easily used diagnostic guidance to clinicians and capturing the individual variation that is relevant to treatment. “People say that in autism, everybody is a snowflake,” she said. “It’s the perfect analogy.”
The proposed elimination of autism subtypes comes at the very moment when research suggests that the disorder may have scores of varieties. Investigators have already identified more than a dozen gene patterns associated with autism, but Dr. Lord, of Michigan, said the genetic markers “don’t seem to map at all into what people currently call Asperger’s or P.D.D.”
Nor have many of these genes been linked to distinct sets of symptoms. Until research can identify reliable biological markers for autism subtypes, Dr. Lord and other experts say, it is better to have no subtypes than the wrong ones.
n interviews, people with Asperger’s and mild autism were divided on the prospect of losing the label. Temple Grandin, a Colorado State University animal scientist who is perhaps the best-known autistic American, said Asperger’s was too well established to be thrown overboard. “The Asperger community is a big vocal community,” Dr. Grandin said, “a reason in itself” to leave the diagnosis in place.
“P.D.D.-N.O.S., I’d throw in the garbage can,” she added. “But I’d keep Asperger’s.”
But some younger people involved in the growing autism self-advocacy movement see things differently.
“My identity is attached to being on the autism spectrum, not some superior Asperger’s identity,” said Ari Ne’eman, 21, an activist who founded the Autistic Self-Advocacy Network, a 15-chapter organization he has built while in college, adding, “I think the consolidation to one category of autism spectrum diagnosis will lead to better services.”
All interested parties will have an opportunity to weigh in on the proposed changes. The American Psychiatric Association is expected to post the working group’s final proposal on autism diagnostic criteria on the diagnostic manual’s Web site in January and invite comment from the public. Dr. Swedo and company are bracing for an earful.
Published: November 2, 2009
It is one of the most intriguing labels in psychiatry. Children with Asperger’s syndrome, a mild form of autism, are socially awkward and often physically clumsy, but many are verbal prodigies, speaking in complex sentences at early ages, reading newspapers fluently by age 5 or 6 and acquiring expertise in some preferred topic — stegosaurs, clipper ships, Interstate highways — that will astonish adults and bore their playmates to tears.
In recent years, this once obscure diagnosis, given to more than four times as many boys as girls, has become increasingly common.
Much of the growing prevalence of autism, which now affects about 1 percent of American children, according to federal data, can be attributed to Asperger’s and other mild forms of the disorder. And Asperger’s has exploded into popular culture through books and films depicting it as the realm of brilliant nerds and savantlike geniuses.
But no sooner has Asperger consciousness awakened than the disorder seems headed for psychiatric obsolescence. Though it became an official part of the medical lexicon only in 1994, the experts who are revising psychiatry’s diagnostic manual have proposed to eliminate it from the new edition, due out in 2012.
If these experts have their way, Asperger’s syndrome and another mild form of autism, pervasive developmental disorder not otherwise specified (P.D.D.-N.O.S. for short), will be folded into a single broad diagnosis, autism spectrum disorder — a category that encompasses autism’s entire range, or spectrum, from high-functioning to profoundly disabling.
“Nobody has been able to show consistent differences between what clinicians diagnose as Asperger’s syndrome and what they diagnose as mild autistic disorder,” said Catherine Lord, director of the Autism and Communication Disorders Centers at the University of Michigan, one of 13 members of a group evaluating autism and other neurodevelopmental disorders for the manual.
“Asperger’s means a lot of different things to different people,” Dr. Lord said. “It’s confusing and not terribly useful.”
Taking Asperger’s out of the manual, known as D.S.M.-V for the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders, does not mean the term will disappear. “We don’t want to say that no one can ever use this word,” Dr. Lord said, adding: “It’s not an evidence-based term. It may be something people would like to use to describe how they see themselves fitting into the spectrum.”
But the change, if approved by the manual’s editors and consultants, is likely to be controversial. The Asperger’s diagnosis is used by health insurers, researchers, state agencies and schools — not to mention people with the disorder, many of whom proudly call themselves Aspies.
Some experts worry that the loss of the label will inhibit mildly affected people from being assessed for autism. “The general public has either a neutral or fairly positive view of the term Asperger’s syndrome,” said Tony Attwood, a psychologist based in Australia who wrote “The Complete Guide to Asperger’s Syndrome” (Jessica Kingsley Publishers, 2006). But if people are told they should be evaluated for autism, he went on, “they will say: ‘No, no, no. I can talk. I have a friend. What a ridiculous suggestion!’ So we will miss the opportunity to assess people.”
The proposed changes to the autism category are part of a bigger overhaul that will largely replace the old “you have it or you don’t” model of mental illness with a more modern view — that psychiatric disorders should be seen as a continuum, with many degrees of severity. The goal is to develop “severity measures within each diagnosis,” said Dr. Darrel A. Regier, research director at the American Psychiatric Association and vice chairman of the diagnostic manual’s task force.
Another broad change is to better recognize that psychiatric patients often have many health problems affecting mind and body and that clinicians need to evaluate and treat the whole patient.
Historically, Dr. Regier said, the diagnostic manual was used to sort hospital patients based on what was judged to be their most serious problem. A patient with a primary diagnosis of major depression would not be evaluated for anxiety, for example, even though the two disorders often go hand in hand.
Similarly, a child with the autism label could not also have a diagnosis of attention deficit hyperactivity disorder, because attention problems are considered secondary to the autism. Thus, they might go untreated, or the treatment would not be covered by insurance.
The new edition, by contrast, will list not only the core issues that characterize a given diagnosis but also an array of other health problems that commonly accompany the disorder. For autism, this would most likely include anxiety, attention disorders, gastrointestinal problems, seizures and sensory differences like extreme sensitivity to noise.
Parents and advocates have been clamoring for an approach that addresses the multiple health problems that plague many children with autism. “Our kids will do much better if medical conditions like gut issues or allergies are treated,” said Lee Grossman, president of the Autism Society of America, a leading advocacy group.
The new diagnostic approach addresses another source of confusion: the current labels may change over time. “A child can look like they have P.D.D.-N.O.S., then Asperger’s, then back to autism,” Dr. Lord said. The inconsistent use of these labels has been a problem for researchers recruiting subjects for studies of autism spectrum disorder.
And it can be a problem for people seeking help. In some states, California and Texas, for example, people with traditional autistic disorder qualify for state services, while those with Asperger’s and pervasive developmental disorder do not.
A big challenge for the diagnostic manual team working on autism is how to measure severity in a condition that often causes a very uneven profile of abilities and disabilities. Mr. Grossman gives the example of a woman who serves on an advisory panel to his organization. She is nonverbal and depends on an electronic device to communicate, is prone to self-injury and relies on a personal aide. And yet “she’s absolutely brilliant, she runs a newsletter, and she’s up on all the science,” he said, adding, “Where would somebody like that come out on the rating scale?”
Recent books by people with Asperger’s give insights into the workings of some oddly beautiful minds. In “Embracing the Wide Sky” (Free Press, 2009), Daniel Tammet, a shy British math and linguistic savant, tells how he was able to learn enough Icelandic in a week to manage a television interview and how he could recite the value of pi to 22,514 decimal places by envisioning the digits “as a rolling numerical panorama” of colors, shapes and textures.
In “Look Me in the Eye” (Crown, 2007), John Elder Robison describes a painfully lonely childhood and an ability to look at a circuit design and imagine how it will transform sound — a talent he used to invent audio effects and exploding guitars for the rock band Kiss.
Not all people with Asperger’s have such extraordinary abilities, and some who do are so crippled by anxiety and social limitations that they cannot hold down a job or live on their own.
Dr. Susan E. Swedo, a senior investigator at the National Institute of Mental Health who heads the diagnostic manual group working on autism, acknowledges the difficulty of describing such a variable disorder. Dr. Swedo said the plan was to define autism by two core elements — impaired social communication and repetitive behaviors or fixated interests — and to score each of those elements for severity.
The trick is to “walk the tightrope of truth,” Dr. Swedo said, between providing clear, easily used diagnostic guidance to clinicians and capturing the individual variation that is relevant to treatment. “People say that in autism, everybody is a snowflake,” she said. “It’s the perfect analogy.”
The proposed elimination of autism subtypes comes at the very moment when research suggests that the disorder may have scores of varieties. Investigators have already identified more than a dozen gene patterns associated with autism, but Dr. Lord, of Michigan, said the genetic markers “don’t seem to map at all into what people currently call Asperger’s or P.D.D.”
Nor have many of these genes been linked to distinct sets of symptoms. Until research can identify reliable biological markers for autism subtypes, Dr. Lord and other experts say, it is better to have no subtypes than the wrong ones.
n interviews, people with Asperger’s and mild autism were divided on the prospect of losing the label. Temple Grandin, a Colorado State University animal scientist who is perhaps the best-known autistic American, said Asperger’s was too well established to be thrown overboard. “The Asperger community is a big vocal community,” Dr. Grandin said, “a reason in itself” to leave the diagnosis in place.
“P.D.D.-N.O.S., I’d throw in the garbage can,” she added. “But I’d keep Asperger’s.”
But some younger people involved in the growing autism self-advocacy movement see things differently.
“My identity is attached to being on the autism spectrum, not some superior Asperger’s identity,” said Ari Ne’eman, 21, an activist who founded the Autistic Self-Advocacy Network, a 15-chapter organization he has built while in college, adding, “I think the consolidation to one category of autism spectrum diagnosis will lead to better services.”
All interested parties will have an opportunity to weigh in on the proposed changes. The American Psychiatric Association is expected to post the working group’s final proposal on autism diagnostic criteria on the diagnostic manual’s Web site in January and invite comment from the public. Dr. Swedo and company are bracing for an earful.
The Asperger's diagnosis
An article in today's New York Times - A Powerful Identity, a Vanishing Diagnosis - reports that the "Asperger's Syndrome" diagnosis may be eliminated from the 2012 diagnostic manual (D.S.M.-V). In its place, would be a single broad diagnosis of "autism spectrum disorder."
According to the article, the American Psychiatric Association is expected to post the working group's final proposal on the diagnostic manual's web site in January and invite comment from the public. That will be a fascinating comment thread to follow. I have not yet met an individual with Asperger's Syndrome who was reluctant to express his or her strongly felt views on a topic.
I first heard the word "Asperger's" from a speech and language teacher when our son was in first grade, in the fall of 1996. She had only recently learned about the Syndrome and thought it might fit - I ran a computer search that night, and she was right. The label didn't lead us to a miracle cure - and we weren't looking for one. It did help connect us with a virtual community of parents of kids with Aspergers and adults with Aspergers so we could start learning what others were doing to help support and compensate for the confusing range of qualities and behaviors that often appear as part of Asperger's Syndrome.
Interestingly, we first suspected that our son might have autism much earlier, and our pediatrician (who thought we were being neurotic first time parents) referred us to a respected developmental psychologist when our son was three. The psychologist tested our son and reported that he could not be autistic because he was "not retarded." Thankfully, the understanding of autism spectrum disorders has advanced significantly since then.
Soon after we discovered the Asperger's Syndrome label a child psychologist explained that, in her view, Asperger's Syndrome describes a cluster of seemingly unrelated skills and deficits that come together for some individuals on the autism spectrum - and, make no mistake, wherever you happen to fit on the autism spectrum, "life is going to be hard." It sounds like the D.S.M-V may be headed in this direction.
Our son attended a high school for kids with high functioning autism, Asperger's Syndrome and non-verbal learning disabilities. There were about 50 students and it was a good laboratory within which to test the saying that - "If you have seen one person with Asperger's . . . you have seen one person with Asperger's." These kids were all unique, and they all identified in different ways. But the truth is, almost all of them faced significant challenges that will make life hard - the two hallmarks were social awkwardness and great difficulties with organization (what psychologists refer to as executory planning). The great joy of the school, was that many of the students also presented unique and fascinating strengths and refreshing honesty.
I am watching these former high school students enter young adulthood now. And, much as I wish it was not true, I think life on the spectrum is hard. But hard does not mean bad - just hard. One of my co-workers shared a story the other day about an accomplishment. She hiked to the bottom of the Grand Canyon in early September. The next morning, as she stood in 97 degree heat in the shade she looked 7,000 feet up at the rim and saw two tiny trees at the top. And she wondered whether she could ever make it to the top. Of course, she did, one step at a time. That image works for me. It is a hard climb, but a beautiful climb, and we are taking it one day at a time.
I am going to be very interested to read and hear what the Asperger's and autism communities have to say about the proposed diagnostic changes. I've always thought that the label doesn't matter - what does matter is understanding the full range of support that might help each individual capitalize on his or her strengths and address his or her challenges. However, I think I may have been wrong. We do, after all, live in a "neurotypical" world and labels, as it turns out, can matter a lot in dealing with the social services maze.
According to the article, the American Psychiatric Association is expected to post the working group's final proposal on the diagnostic manual's web site in January and invite comment from the public. That will be a fascinating comment thread to follow. I have not yet met an individual with Asperger's Syndrome who was reluctant to express his or her strongly felt views on a topic.
I first heard the word "Asperger's" from a speech and language teacher when our son was in first grade, in the fall of 1996. She had only recently learned about the Syndrome and thought it might fit - I ran a computer search that night, and she was right. The label didn't lead us to a miracle cure - and we weren't looking for one. It did help connect us with a virtual community of parents of kids with Aspergers and adults with Aspergers so we could start learning what others were doing to help support and compensate for the confusing range of qualities and behaviors that often appear as part of Asperger's Syndrome.
Interestingly, we first suspected that our son might have autism much earlier, and our pediatrician (who thought we were being neurotic first time parents) referred us to a respected developmental psychologist when our son was three. The psychologist tested our son and reported that he could not be autistic because he was "not retarded." Thankfully, the understanding of autism spectrum disorders has advanced significantly since then.
Soon after we discovered the Asperger's Syndrome label a child psychologist explained that, in her view, Asperger's Syndrome describes a cluster of seemingly unrelated skills and deficits that come together for some individuals on the autism spectrum - and, make no mistake, wherever you happen to fit on the autism spectrum, "life is going to be hard." It sounds like the D.S.M-V may be headed in this direction.
Our son attended a high school for kids with high functioning autism, Asperger's Syndrome and non-verbal learning disabilities. There were about 50 students and it was a good laboratory within which to test the saying that - "If you have seen one person with Asperger's . . . you have seen one person with Asperger's." These kids were all unique, and they all identified in different ways. But the truth is, almost all of them faced significant challenges that will make life hard - the two hallmarks were social awkwardness and great difficulties with organization (what psychologists refer to as executory planning). The great joy of the school, was that many of the students also presented unique and fascinating strengths and refreshing honesty.
I am watching these former high school students enter young adulthood now. And, much as I wish it was not true, I think life on the spectrum is hard. But hard does not mean bad - just hard. One of my co-workers shared a story the other day about an accomplishment. She hiked to the bottom of the Grand Canyon in early September. The next morning, as she stood in 97 degree heat in the shade she looked 7,000 feet up at the rim and saw two tiny trees at the top. And she wondered whether she could ever make it to the top. Of course, she did, one step at a time. That image works for me. It is a hard climb, but a beautiful climb, and we are taking it one day at a time.
I am going to be very interested to read and hear what the Asperger's and autism communities have to say about the proposed diagnostic changes. I've always thought that the label doesn't matter - what does matter is understanding the full range of support that might help each individual capitalize on his or her strengths and address his or her challenges. However, I think I may have been wrong. We do, after all, live in a "neurotypical" world and labels, as it turns out, can matter a lot in dealing with the social services maze.
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