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Entries in Autism (52)

Wednesday
Aug152012

Autism Transplant Denial Sparks Debate

Jupiterimages/Thinkstock(PHILADELPHIA) -- It was hard enough for Karen Corby to hear that her autistic son would need a heart transplant to survive, but it was even harder to take the news that doctors wouldn't give him one.

"I was numb at first," Corby, of Pottsville, Pa., told ABC News, remembering the phone call from Paul's cardiologist when she found out he wouldn't be placed on the transplant list. "Before she hung up, she told me to have a nice day."

Her son Paul, 23, has a left ventricle that didn't close after he was born, so his heart doesn't pump the right amount of blood. The Corbys found out in 2008, and were told it was time for a transplant in 2011.

The cardiologist at Penn Medicine told Corby that Paul was denied, "given his psychiatric issues, autism, the complexity of the process, multiple procedures and the unknown and unpredictable effect of steroids on behavior," according to the letter Corby released.

Paul's experience raises questions about how autism and other brain disorders should be factored into transplant decisions.

"It seems that they have looked at this person as a label rather than the unique qualities that this person has," Dr. Dan Coury, Autism Speaks' Medical Director for the Autism Treatment Network, told ABC News. Coury said he has not met Paul or reviewed his medical records, but he is aware of the rejection from a Philadelphia Inquirer story.

He said autism is one of many factors that should be considered in the transplant decision, but based on what he's read, he isn't sure why Paul was denied. He noted that Paul can carry on a conversation, has a good quality of life and has a social network to support him after the surgery.

Dr. David Cronin, an associate professor of transplant surgery at the Medical College of Wisconsin, told ABC News he does not know the case, but organ transplant denial tends to be easier for people to accept because of an anatomic problem, such as calcified blood vessels that would prevent the successful implantation of a new kidney.

"Those no's are more acceptable than if somebody says, for example, 'You don't have enough insurance coverage,' or 'You still have behavioral problems like substance abuse issues,'" he said. "It's not like a CT scan where you can put it up and say,' Look. We can't technically do it.'"

Denials come because organs are a scarce resource, with three to four times as many people who need transplants as there are organs available. As such, he said, doctors look for transplant candidates to have good expected outcomes. For example, a dying patient who has a one percent chance of survival with a new organ would not be a good candidate because that organ could have gone to someone who could have lived a full life with it, he said.

The patient has to be able to take care of the new organ or have a support group to ensure that the organ doesn't go to waste, which can be an issue with mental illness, addiction and even autism, he said.

Cronin, who has not met Paul, said someone with a mental disorder could need to be restrained during surgery or rip out life-saving tubes and wires during recovery.

"I have never since 1995 seen that decision made in a cavalier fashion," Cronin said. "These decisions are not made in isolation. They're not made easily…We know the outcome is if someone is denied a transplant."

Penn Medicine was unable to comment on Paul's specific case, but said it reviews a number of factors before putting a patient on the transplant list.

"Our criteria for listing an individual for transplant are regularly reviewed in comparison with national standards, but we always encourage patients to seek another opinion," the statement concludes.

Patients who are denied can seek evaluation for the national waiting list at another transplant center in the hopes that the new center has a different criterion for choosing transplant candidates. Once the patient is on the national list, the United Network for Organ Sharing, a non profit contracted by the federal government matches donor organs to recipients.

As of 7:54 a.m. Wednesday morning, there were 114,852 people on the national list, according to the UNOS website. From January to May of this year, 11,468 transplants were performed, it said.

For now, Corby is accepting signatures on her Change.org petition and has mailed Paul's records to the Mayo Clinic for review. She also plans to send his records to the University of Pittsburgh's hospital.

"We don't want to get too hopeful, but it's better than where we were before," she said.

Copyright 2012 ABC News Radio

Monday
Jul022012

Rob Schneider Speaks Out Against Childhood Vaccinations

Gustavo Caballero/Getty Images(SACRAMENTO, Calif.) -- You can add Rob Schneider to the list of celebrities speaking out against childhood vaccinations.  The former Saturday Night Live star was among those attending a hearing last week on California bill AB2109. The bill, if passed, would require parents who decide not to vaccinate their kids to provide a signed statement from a doctor or qualified healthcare professional certifying that mom and/or dad were informed of the risks and benefits of childhood vaccination.

Speaking at the hearing to ABC News affiliate KXTV in Sacramento, Schneider -- who noted that his wife is pregnant -- declared that mandating informed consent to opt out of childhood vaccinations is "illegal.  You can't make people do procedures that they don't want. The parents have to be the ones who make the decisions for what's best for our kids. It can't be the government saying that."

Schneider went on to say that AB2109 was against the "Nuremberg Laws."  The Nuremberg Laws were antisemitic laws passed in Nazi Germany that paved the way for the Holocaust.  Schneider may have meant to say the Nuremberg Code, a set of post-WWII principles governing human experimentation.  The first principle is, ironically, informed consent.

Schneider also alleged that there's a link between childhood vaccinations and the rise in autism, as have others including fellow celebrity Jenny McCarthy. "The toxicity of these things -- we're having more and more side effects. We're having more and more autism," declares Schneider.  Any link between childhood immunizations and autism has been repeatedly discredited.

Schneider further says most children today are required to get some 70 vaccines, and declares, "The efficacy of these shots have not been proven."  The Centers for Disease Control and Prevention recommends children by the age of two receive 28 total doses of vaccine to be protected against 15 potentially fatal diseases, including polio, hepatitis A and B, diphtheria and measles.

As it stands now, non-immunized kids in California can attend public school if their parents obtain a personal exemption, meaning they object to immunizations for religious or other philosophical reasons.

Copyright 2012 ABC News Radio

Tuesday
Jun262012

EEGs May Someday Be Able to Diagnose Autism

iStockphoto/Thinkstock(BOSTON) -- A readily available brain test could someday be used to diagnose autism in children as young as 2 years old, offering the potential for earlier intervention, according to a new study published online in the journal BMC Medicine.

Researchers at Boston Children's Hospital used electroencephalograms (EEGs), tests that measure electrical activity in the brain, to compare the brains of 430 children with autism and 554 normal children between the ages of 2 and 12.

Children with autism showed reduced connectivity among a number of areas of the brain, and these patterns were different than the patterns observed in normal children.

"Most of these patterns provide enough information to cleanly separate 2 to 12-year-old autistic children from neurotypical controls," said Dr. Frank Duffy, a study co-author and director of developmental neurophysiology at Boston Children's Hospital.

Part of what sets this research apart from other studies, Duffy explained, is that the subjects were children with classic signs of autism, including communication difficulties, compulsivity, impulsivity and problems engaging other people.  As a result of these symptoms, research can be very challenging.

"The problem with studying autistic children is that they aren't very cooperative," Duffy said.  "Many of the studies have taken extreme cases, such as high-functioning autistics, adults with autism or people with Asperger's syndrome."  Asperger's syndrome is a milder form of autism marked by language and communication difficulties.

While not yet ready for real-world diagnosis, Duffy said it's possible EEGs, which are easy to get and relatively inexpensive, could eventually be used to diagnose autism at younger ages.

But Dr. Max Wiznitzer, an associate professor of pediatric neurology at Case Western Reserve University School of Medicine said the value of EEGs lies in areas other than making a diagnosis.

"This is more of a confirmatory tool," he said.  "An autism diagnosis is primarily clinical," he added, meaning a specialist makes the diagnosis.

Wiznitzer also said that some of the connectivity patterns observed in the study could also be signs of other types of disorders.

Duffy said he does plan to repeat the study in children with other types of autism to determine whether the same patterns exist.

Copyright 2012 ABC News Radio

Monday
Jun112012

Donated Brains Damaged in Harvard Freezer

Tom Landers/The Boston Globe via Getty Images(BELMONT, Mass.) -- A freezer failure at the Harvard Brain Tissue Resource Center damaged one-third of the world’s largest donated brain collection for autism research.

A total of 93 donated brains were damaged at McLean Hospital in Belmont, Mass., 54 of them earmarked for autism research through Autism Speaks. Harvard spokesperson, Adriana Bobinchock, said an investigation is underway to determine how the freezer failure occurred.

The freezer’s temperature failed in late May, and alarms that normally indicate rising temperatures did not sound.

Dr. Francine Benes, director of the Harvard Brain Tissue Resource Center, told the Boston Globe that the damaged brains were a “priceless collection.” While foul play cannot totally be ruled out at this time, Bobinchock said that after reviewing surveillance footage and other safety measures, foul play is not likely.

Scientists are currently conducting tests to see if DNA in the damaged brains is intact and can be used for further genetic research. Bobinchock said, however, that “it is unclear whether the samples will be compatible with the full-range of the needs of neuroscientists.”

Thirty-two of the brains had been bisected, with one hemisphere placed in formalin (a formaldehyde liquid) and one half  put in the freezer. The brains contained in the formalin remain available for all research projects.

Autism Speaks did not return ABC News’ requests for comment, but according to an open letter from the organization’s Chief Scientific Officer Dr. Geri Dawson, many of the damaged samples had already been used in many clinical studies.

“We are confident that we can maintain the momentum of scientific studies based on brain tissue,” Dawson wrote.

There are more than 3,000 donated brains currently in the Brain Bank’s collection.  It is the largest and oldest federally-funded brain bank in the U.S.  In addition to autism, the Brain Bank collects brain tissue for the research of bipolar disorder, schizophrenia, Parkinson’s and Alzheimer’s.

Bobinchock said two secure locked doors that are under 24-hour video surveillance protect the brains.  Benes told the Boston Globe that the freezer was estimated to have been off three days before someone discovered the warmer-than-normal temperatures. The newspaper reported that the Brain Bank has been accepting donations from people with autism for about 20 years, so it will likely take several years to replace the damaged collection.

“This is definitely a blow to the speed of progress, given that donations occur over a period of years and it takes time to amass a large sample,” said Lori Warner, director of HOPE Center for Autism. “This type of brain research is unique in that it’s actual physical evidence of any differences or changes in the brains of the patients compared to controls who do not have autism.”

Dawson noted that brain donations are precious to the research and understanding of a myriad of health conditions.

“We want to ensure that this unfortunate and rare incident will not negatively affect donations in the future,” Dawson said. “We remain committed as ever to conducting research that will uncover the causes of autism and allow us to develop more effective treatments.”

Copyright 2012 ABC News Radio

Tuesday
May292012

'Sensory Integration Therapies' Lack Evidence, AAP Says

File photo. Michael Blann/Thinkstock(NEW YORK) -- Woody Sims was a gifted boy. His mother said he began reading at a very early age, and he was a bright student in preschool.

To those around him, his development in his early years seemed normal. But in his college essay, Woody, now 18 years old, described a childhood experience marked by "deep fears of loud noises, cooked carrots and handwriting."

"I was over-stimulated, which meant I couldn't handle certain textures, and freaked out at loud noises," Woody wrote in his essay. "I also had problems managing tasks with multi-sensory inputs, like handwriting and catching a ball. These sensory problems meant that sports, driving, and concerts would all be things I couldn't ever do or see without a great deal of difficulty."

For Woody, the diagnosis of sensory processing disorder, or SPD for short, came very early, at age 4. His mother, Pam Sims, now 52, of Denver, Colo., had arranged for him to be tested for his school's gifted program. It was the tester who informed her that he believed her son fit the bill for the disorder.

In a coincidence that Pam Sims calls a "luck of the draw," a center devoted to the research and treatment of this disorder happened to be located in Denver, where they live. It was here, at the STAR Center, that Woody engaged in sensory-based therapies aimed at improving his coordination and social and interactive therapies to help him deal with stimuli in his environment that he found harsh and jarring.

"It is amazing what it did for him," Pam Sims said. "As time went on, we had more treatments. We stopped when he was about 7 or 8 years old, as he had learned to regulate himself."

Stories like Woody's appear to support the existence of SPD -- and there are many such stories. Nevertheless, solid research confirming the existence of SPD is in far shorter supply, many in the medical community say. And on Monday, it would seem that new recommendations from the American Academy of Pediatrics have dealt another blow to the legitimacy of SPD. Specifically, the AAP recommends, "At this time, pediatricians should not use sensory processing disorder as a diagnosis."

The recommendations also suggest to pediatricians that they inform families that the evidence for sensory-based therapies is limited and that outcomes from these therapies should be monitored closely.

"I think the academy statement reinforces the decision that there is not enough information at this time to conclude that this is a distinct disorder," said Dr. Michelle Zimmer, a professor in the UC Department of Pediatrics and a lead author of the recommendations. "Moving forward, there needs to be a lot more research in this field."

Dr. Larry Desch, director of developmental pediatrics at Advocate Health Care and also a lead author on the recommendations, said that he did not anticipate that the recommendation would be well-received among parents and doctors who believe sensory processing disorder should have its own place as an official condition.

"I think they'll be unhappy, some of them," he said. "But I'm hoping it will lead to more research studies being done."

Dr. Lucy Miller, founder and executive director of the STAR Center Foundation, where Woody received treatment, said she, too, hopes the recommendations will lead to more research. But she said that there is no doubt in her mind that SPD is a distinct condition.

"There is an unbelievable amount of evidence not cited in [the recommendations]," Miller said, adding that much of the most recent research "just has not hit the mainstream pediatrics literature yet."

Miller agreed that more research is needed to further define the condition and those who suffer from it. But based on two studies that have looked at its prevalence, she estimated that 1 in 10 children may experience it to some degree -- maybe more.

But in light of the current research, SPD seems a tough sell.

"There is more that is anecdotal than anything else," Desch said. "There were a lot of problems with studies."

It probably doesn't help that the signs of SPD are a mixed bag. For some, it takes the form of an aversion to loud noises, rough textures in clothing and the taste and textures of certain foods. It is also said to manifest itself in what are known as "vestibular" effects -- poor balance, clumsiness and a delay in milestones such as learning to walk and talk. Some appear overstimulated by the world around them. Others are understimulated.

And then there is the treatment, part of which involves what is known as sensory integration therapy. This therapy is aimed at improving a child's ability to correctly process the stimulation he or she receives from surroundings. This usually means modifying the stimuli to which these children are exposed using swings, unstable platforms, weighted vests and a vast array of other equipment.

It is this therapy that the AAP recommendations singled out, encouraging pediatricians to "communicate with families about the limited data" on its use.

Critics of sensory integration therapy point out that the sensory issues targeted are signs of an underlying condition -- and that focusing on these symptoms ignores the larger problem, be it autism, ADHD or something else.

But, Miller argued, the therapy has evolved drastically from its origins in the 1970s. She also said the AAP recommendation ignores the other, newer therapies for sensory processing disorder -- approaches that emphasize social participation and require that relationships and engagement be a priority of the treatment.

Still, the generally lukewarm assessment of the studies published to date suggests the broader medical community has not yet recognized the existence of this disorder as a standalone condition, and it is even less convinced of the legitimacy of its treatment. As a result, few insurance companies cover the therapies. This can make this therapy an expensive proposition for parents. Pam Sims says Woody's treatment cost about $100 per hour and was not covered by the family's health insurance.

"I think that the cost prevents some people getting treatment they need," she said.

The insurance situation is just one of the things that proponents of sensory processing disorder hope to change. They have pushed for the inclusion of sensory processing disorder in the upcoming fifth edition of the Diagnostic and Statistical Manual of Mental Disorders, or DSM-5, expected to be released next year. The DSM is considered to be the authoritative compendium of psychiatric disorders, and a place in its pages would mean that sensory processing disorder would become an official diagnosis. By extension, sensory-integration therapies would get a much-needed boost in credibility.

Whether or not the AAP's policy statement will undermine those efforts remains to be seen. Miller said she has already been told that the DSM-5 will not list SPD as a new diagnosis. She believes that it will get a mention as a sub-criterion for autism spectrum disorder. But what she is holding out hope for now is that it will be included at the end of the manual, as a novel diagnosis in need of research.

Even the authors of the new AAP recommendations appear to agree that more solid research on SPD would be a welcome development. And Zimmer said that despite the fact that one of the new recommendations explicitly urges caution with sensory integration therapy, she does not feel that this means the approach has no place in treatment.

"Certainly I think sensory-based therapies can be helpful," she said. "But these treatments have to be done on an individualized basis. It should be one component of a more global treatment program."

She said parents should consult their pediatricians if they are considering sensory-based therapies, and they should set out a specific period of time with a specific goal in mind -- a measurable reduction in episodes involving behaviors associated with oversensitivity, for example. She said that parents should then monitor their child's progress to see if these goals are being met. If not, she said, treatment should be discontinued.

Dr. Richard Besser, ABC News' chief health and medical editor and a pediatrician himself, agreed.

"It is so important that parents talk with their child's doctor openly about treatment options," he said. "Sometimes, there are treatments that lack scientific evidence because they are new and innovative. As long as they are safe, it may be worth undertaking in particular situations. However, as studies are done, doctors need to be open with their patients to let them know the findings."

Copyright 2012 ABC News Radio

Thursday
May242012

Many Children with Autism Diagnosed Late, Study Finds

iStockphoto/Thinkstock(NEW YORK) -- Many children may be diagnosed with autism years too late to benefit from early behavioral intervention, according to 2011 national survey findings released Thursday from the National Institute of Mental Health.

Intensive behavioral therapy for autism, which can begin as early as age two, can significantly improve language and thinking skills in children with autism, according to the National Institutes of Health.  The therapy, which helps develop a child's social and behavior skills within different environments, is considered among the best forms of treatment by the American Academy of Pediatrics.

However, the survey found that more than half of the children had reached age five before they were first identified as having an autism spectrum disorder.

Although children can continue to benefit from behavioral interventions after age five, earlier behavioral intervention is associated with better outcomes, according to many experts.

"It is critical that we address the barriers that are preventing children from receiving early intervention," said Geraldine Dawson, chief science officer of Autism Speaks, who was not involved in the study.

More than 1,400 children ages 6 to 17 with autism were included in the survey.  The survey looked at diagnosis of the disorder within the last 17 years.

The older children may have been receiving some sort of medical assessment for their condition before receiving a formal diagnosis, according to Lisa Colpe, chief officer of clinical and population epidemiology research at the National Institute of Mental Health's and co-author of the study.

"It's still a very complex disorder to diagnose and does take some time," said Colpe.  "These ages mean that they have been getting assessed for some period of time before getting a diagnosed."

Ninety percent of the children diagnosed participated in some form of developmental service including occupational therapy, speech and language therapy, and social skills training, according to the study.  However, fewer than half of the children underwent behavioral therapy.

Copyright 2012 ABC News Radio

Wednesday
May162012

Head and Neck Weakness May Be a Sign of Autism in 6-Month-Olds

David De Lossy/Digital Vision(BALTIMORE) -- While it has been known that weak head and neck control in babies may signal developmental delays, new research provided exclusively to ABC News revealed that it could also signal autism.

A simple pull-to-sit test for babies may help in early detection of autism spectrum disorders, according to the findings from the Kennedy Krieger Institute in Baltimore.

Researchers studied two groups of infants who were considered to be at high genetic risk of autism spectrum disorder. The first group included 40 babies, ages 5 to 10 months old.

The scientists performed a task in which they pulled the babies, who were lying on their backs, by the arms up to a seated position. The infants were tested at 6, 14 and 24 months old. They found that 90 percent of babies who were diagnosed with ASD showed head lag as infants. Fifty-four percent of children who had other developmental delays also showed weak head and neck muscles as infants.

In the second group, Landa and her team examined the presence of a head lag in babies who were at high genetic risk, versus those at low genetic risk. They found that 75 percent of high-risk infants exhibited the head lag, whereas 33 percent of low-risk infants did.

About 1 percent of American children ages 3 to 17 have an autism spectrum disorder, and it is the fastest-growing developmental disorder, according to the Autism Society. The condition characterizes a complex set of brain development disorders characterized by repetitive behaviors and difficulty with social interactions and verbal and nonverbal communications.

Motor disruption tends to be present in children with ASD early in life, and early disruption in motor development can indicate that something could be awry in neurodevelopment, said Landa.

Early intervention in autism is crucial, and identifying a head lag within the first year of life may help families get babies the developmental interventions they need. Otherwise, the disorder may not be properly addressed until the child is 1 to 4 years old, when social and communication impairments tend to emerge in children with autism.

The simple head lag test is a good sign of the functioning of the motor system, overall muscle tone and central nervous system, said Dr. Stefani Hines, director of the Center for Human Development at Beaumont Children's Hospital in Detroit.

But head lag can stem from a number of different conditions, and Hines cautioned against parents assuming the head lag indicates ASD, as it can also reveal neuromuscular disorders, developmental delay and cerebral palsy.

Hines said the new study is another tool in the arsenal in helping to assess high-risk children for autism. The findings will help pediatricians be more cognizant of the importance of assessing head lag in ASD and other developmental disability diagnoses.

Copyright 2012 ABC News Radio

Wednesday
Apr252012

Experimental Drug Improves Autism-Like Symptoms in Mice

Comstock/Thinkstock(WASHINGTON) -- Researchers have identified a novel compound that improved autism-like behaviors in mice, according to a new study published in the journal Science Translational Medicine.

Scientists from the National Institutes of Mental Health (NIMH) and Pfizer Worldwide Research and Development found that an experimental agent known as GRN-529 that inhibited the actions of a glutamate, a chemical in the brain, caused mice to be more social and engage in less repetitive grooming.  Social deficits and repetitive behaviors are two of the core symptoms of autism spectrum disorders.

While findings in mice may not always be applicable to humans and research into this compound is in a very early stage, lead researcher Jill Silverman of the NIMH said so far, the data are encouraging.

“This is the first step in a very long process,” she said.  “But the results are important because there are no drugs that are currently available to autistic patients that address any of the core symptoms.  The only drugs that are prescribed are for irritability that can lead to tantrums and for self-injurious behavior.”

The two approved drugs — Risperdal and Abilify — are anti-psychotics and can have dangerous side effects, she added.

The mice used in the study are commercially bred to exhibit symptoms that strongly resemble those often seen in autism.  They displayed very low levels of social interaction and also repeatedly groomed themselves so excessively that in some cases, their hair started to fall out, Silverman explained.

The mice also did not vocalize much, reflecting the communication deficits seen in people with autism.

The animals who received GRN-529 groomed themselves less and spent more time interacting with other mice.   Another group of mice exhibited less repetitive jumping.

In an accompanying editorial, Baltazar Gomez-Mancilla, a researcher with the pharmaceutical company Novartis, wrote that these findings along with previous study data suggest that the effects of these agents should soon be tested on humans with autism.

But it will take more research to determine whether any future drugs should be used at the time of diagnosis, and which patients could potentially benefit the most from this type of agent, since autism is so highly variable.

Copyright 2012 ABC News Radio

Wednesday
Apr042012

Autism Linked to Family Inherited Gene Mutations

iStockphoto/Thinkstock(WASHINGTON) -- Joslyn Gray, 38, of Drexel Hill, Pa., resisted her pediatrician's recommendation that she have her 4-year-old son tested for autism. She didn't think he fit the classic description.

"I didn't understand what autism was and the vast spectrum of the disorder," said Gray. "I got him evaluated because I didn't want to be seen as a mom in denial."

Gray's son was diagnosed with Asperger's syndrome -- a higher functioning form of autism -- at age 4. In hindsight, Gray said she could see how his symptoms progressed until his diagnosis, and his diagnosis prompted her to have her daughter tested too. Two years later, in January 2012, her daughter, now 10 years old, received the same diagnosis as her brother.

The latest statistics released by the U.S. Centers for Disease Control and Prevention estimate that autism spectrum disorder increased by 23 percent from 2006 to 2008 to include nearly one in 88 children.

Experts said the growing numbers reflect an all-encompassing disorder that just as often includes children who speak or don't speak, make eye or don't make eye contact, recognize their names or not.

While experts remain perplexed about what causes autism, Gray said for her kids, she knew the answer. "In our case, it's so clearly genetic," she said, even though medical experts cannot yet confirm the exact cause of any autism diagnosis. "There's no doubt in my mind."

And many scientists agree that the growing autism numbers may be in part be attributed to certain genetic mutations that are most likely inherited from the father, according to the combined findings of three studies published Wednesday in the journal Nature.

The studies are the largest to date to use whole-exome sequencing, which decodes the protein, an arguably more precise method of detecting genetic mutations in multiple genes that may be associated with autism.

The findings from one of the studies supports mounting evidence suggesting that the older the father, the higher the chance the child may develop some form of autism.

In another study, researchers who compared siblings with and without autism found that the sibling with autism had two different mutations of the gene SCN2A.

Genetic mutations found in the child with autism that were not found in either parent are likely not associated with autism, one of the studies concluded.

But these findings further suggest that autism is a genetically complex disease, Dr. Daniel Geshwind, a professor of neurology and psychiatry at UCLA, told ABC News. Several genes contribute, as the average risk imparted by one mutation is typically not enough.

There are currently upward of 1,000 genes that seem to play some role in autism, but it's still not clear exactly what that role is.

"The genes highlighted are clearly the most convincing susceptibility genes that have been identified so far, but they only explain a small picture of autism," said Dr. Mark Daly, chief of the analytic and translational genetics at Massachusetts General Hospital, and co-author of one of the studies.

At least 14 to 15 percent of children with autism will have some form of these identified gene mutations, said Geshwind.

But the findings won't necessarily tell parents much. While having the mutation may increase the risk of autism, it doesn't necessarily mean the child will develop the disorder. The findings also can't tell researchers how severe a child's autism will be.

"We are far from the point where there's predictive information," said Daly.

"This shows that we are making a lot of progress in identifying the causes of autism," said Geshwind, who believes more genes associated with autism, and what they mean, are yet to be discovered.

"Genetics is here," said Geshwind, "and it's going to be clinically relevant very soon."

Copyright 2012 ABC News Radio

Thursday
Mar292012

Autism Rates Rise to 1 in 88, CDC Says

iStockphoto/Thinkstock(WASHINGTON) -- One in 88 children is diagnosed with an autism spectrum disorder, or ASD, by age 8, according to a study released Thursday by the U.S. Centers for Disease Control and Prevention -- a rate that has risen far above the 2006 estimate of 1 in 110.

But experts remain locked in debate about whether these numbers tell the whole story.

The CDC report, which analyzed data from 2008, indicates a 23 percent rise in diagnoses of ASDs over a two-year period.

The news could be most alarming for boys. The study reports that on average 1 in 54 boys was diagnosed with autism, compared to only 1 in 252 girls.

But what this rise actually means is still a mystery. Some doctors contacted by ABC News believe a broader definition of autism has contributed to rising rates.

"I think it has to do with changing diagnostic criteria, including mine over the years which have made me label many more children as being on the autism spectrum than say 10-20 years ago," said Dr. Isabelle Rapin, professor of pediatrics and neurology at the Albert Einstein College of Medicine. "Not only physicians, but parents, teachers, therapists and the public are much more aware of the symptoms of autism, and I suspect some may apply the diagnosis based on one symptom, which is inadequate."

Dr. Lisa Shulman, also at the Albert Einstein College of Medicine, echoed this concern.

"Over the years, children with autistic disorder remain a relatively small group in our center," said Shulman, director of Infant and Toddler Services at Einstein and an associate professor of pediatrics. "It is the group of children with milder social-communicative impairment and without a large array of mannerisms and atypical interests consistent with an ASD diagnosis that has increased significantly."

The data was collected by The Autism and Developmental Disabilities Monitoring network, an organization funded by the CDC to track autism rates. For this report, the ADDM reviewed medical records of 8-year-old children from 14 different areas across the country.

The study focused specifically on 8-year-olds because most autism spectrum diagnoses are made by the time a child reaches their eighth birthday. The signs of autism are often seen much earlier, however. Some experts believe that the first hints of abnormal behavior can be seen as early as 6 to 12 months.

As for the new research, the CDC was quick to caution that these results may not be applicable to the whole country, as data from only certain sites around the nation was collected. This means that the CDC report relies on the records of many different providers across the country.

Numbers aside, scientists are still searching for what causes autism in the first place.

Copyright 2012 ABC News Radio







ABC News Radio