Freezer malfunction at Harvard destroys crucial supply of brains being used to study autism

A freezer malfunctioned at a Harvard-affiliated hospital that oversees the world’s largest collection of autistic brain samples, damaging a third of the scientifically precious specimens and casting doubt on whether they can be used in research.

The director of the Harvard Brain Tissue Resource Center said the loss was “devastating,” particularly in light of the increasing demand for brain samples among scientists searching for the cause of autism and potential treatments.

“Over the last 10 years, the autism tissue program has been working very hard to get the autism community to understand the importance of brain donation,” Dr. Francine Benes said. Now many of those samples have been compromised.

The freezer failed sometime late last month at the center, which is housed at McLean Hospital in the Boston suburb of Belmont. At least 54 samples earmarked for autism research were harmed. Many of them turned dark with decay.

However, an initial review indicates that the DNA in the samples is intact and can still be used for genetic research. It’s unclear, however, whether the samples could be used for the full range of neuroscience needs.

Thirty-two of the brains had been cut in half, with one side placed in a formaldehyde solution and the other placed in the freezer. The samples in the solution remain available for all research projects, the hospital said.

The frozen tissue samples are normally maintained at about minus 80 degrees Celsius, but the temperature had reached about 7 degrees — the temperature of a common refrigerator — when the failure was discovered, Benes said.

That means an important chemical cousin of DNA called RNA was destroyed, she said.

Center officials say they’ve already completed an inspection of the equipment to ensure the safety of the collection.

Dr. Fred Volkmar, an autism researcher and director of the Child Study Center at Yale University, said the damage is even more disheartening given recent advances in autism research.

Some of that research, including autism studies involving stem cells, wasn’t even possible at the time when some of the brains were donated.

“We can’t always know where the science is going to take us,” Volkmar said. “In that respect, it’s a horrible loss. The hope is that at least it’s not a total disaster.”

The hospital launched an investigation to determine why the freezer malfunctioned and why two alarm systems failed to go off as the temperature rose.

Benes said her biggest fear is that the loss of samples could make it harder in the future to encourage brain donation from autistic children and young adults.

“There has been a lot of resistance of brain donations for religious and cultural reasons,” she said.

The collection is owned by the advocacy and research organization Autism Speaks.

The Harvard Brain Tissue Resource Center is the largest and oldest federally funded “brain bank” in the United States. It provides thousands of postmortem brain tissue samples annually to researchers across the nation.

Read more: http://www.nydailynews.com/life-style/health/freezer-malfunction-thaws-brains-harvard-research-hospital-article-1.1094094#ixzz1xnz81QSj

Autism may be linked to obesity during pregnancy

 

 

Obesity during pregnancy may increase chances for having a child with autism, provocative new research suggests.

It’s among the first studies linking the two, and though it doesn’t prove obesity causes autism, the authors say their results raise public health concerns because of the high level of obesity in this country.

Study women who were obese during pregnancy were about 67 percent more likely than normal-weight women to have autistic children. They also faced double the risk of having children with other developmental delays.

On average, women face a 1 in 88 chance of having a child with autism; the results suggest that obesity during pregnancy would increase that to a 1 in 53 chance, the authors said.

The study was released online Monday in Pediatrics.

Since more than one-third of U.S. women of child-bearing age are obese, the results are potentially worrisome and add yet another incentive for maintaining a normal weight, said researcher Paula Krakowiak, a study co-author and scientist at the University of California, Davis.

Previous research has linked obesity during pregnancy with stillbirths, preterm births and some birth defects.

Dr. Daniel Coury, chief of developmental and behavioral pediatrics at Nationwide Children’s Hospital in Columbus, Ohio, said the results “raise quite a concern.”

He noted that U.S. autism rates have increased along with obesity rates and said the research suggests that may be more than a coincidence.

More research is needed to confirm the results. But if mothers’ obesity is truly related to autism, it would be only one of many contributing factors, said Coury, who was not involved in the study.

Genetics has been linked to autism, and scientists are examining whether mothers’ illnesses and use of certain medicines during pregnancy might also play a role.

The study involved about 1,000 California children, ages 2 to 5. Nearly 700 had autism or other developmental delays, and 315 did not have those problems.

Mothers were asked about their health. Medical records were available for more than half the women and confirmed their conditions. It’s not clear how mothers’ obesity might affect fetal development, but the authors offer some theories.

Obesity, generally about 35 pounds overweight, is linked with inflammation and sometimes elevated levels of blood sugar. Excess blood sugar and inflammation-related substances in a mother’s blood may reach the fetus and damage the developing brain, Krakowiak said.

The study lacks information on blood tests during pregnancy. There’s also no information on women’s diets and other habits during pregnancy that might have influenced fetal development.

There were no racial, ethnic, education or health insurance differences among mothers of autistic kids and those with unaffected children that might have influenced the results, the researchers said.

http://www.usatoday.com/news/health/story/2012-04-09/Autism-obesity-pregnancy/54126558/1

New Definition of Autism Will Exclude Many

 
By BENEDICT CAREY
Proposed changes in the definition of autism would sharply reduce the skyrocketing rate at which the disorder is diagnosed and might make it harder for many people who would no longer meet the criteria to get health, educational and social services, a new analysis suggests.
The definition is now being reassessed by an expert panel appointed by the American Psychiatric Association, which is completing work on the fifth edition of its Diagnostic and Statistical Manual of Mental Disorders, the first major revision in 17 years. The D.S.M., as the manual is known, is the standard reference for mental disorders, driving research, treatment and insurance decisions. Most experts expect that the new manual will narrow the criteria for autism; the question is how sharply.
The results of the new analysis are preliminary, but they offer the most drastic estimate of how tightening the criteria for autism could affect the rate of diagnosis. For years, many experts have privately contended that the vagueness of the current criteria for autism and related disorders like Asperger syndrome was contributing to the increase in the rate of diagnoses — which has ballooned to one child in 100, according to some estimates.
The psychiatrists’ association is wrestling with one of the most agonizing questions in mental health — where to draw the line between unusual and abnormal — and its decisions are sure to be wrenching for some families. At a time when school budgets for special education are stretched, the new diagnosis could herald more pitched battles. Tens of thousands of people receive state-backed services to help offset the disorders’ disabling effects, which include sometimes severe learning and social problems, and the diagnosis is in many ways central to their lives. Close networks of parents have bonded over common experiences with children; and the children, too, may grow to find a sense of their own identity in their struggle with the disorder.
The proposed changes would probably exclude people with a diagnosis who were higher functioning. “I’m very concerned about the change in diagnosis, because I wonder if my daughter would even qualify,” said Mary Meyer of Ramsey, N.J. A diagnosis of Asperger syndrome was crucial to helping her daughter, who is 37, gain access to services that have helped tremendously. “She’s on disability, which is partly based on the Asperger’s; and I’m hoping to get her into supportive housing, which also depends on her diagnosis.”
The new analysis, presented Thursday at a meeting of the Icelandic Medical Association, opens a debate about just how many people the proposed diagnosis would affect.
The changes would narrow the diagnosis so much that it could effectively end the autism surge, said Dr. Fred R. Volkmar, director of the Child Study Center at the Yale School of Medicine and an author of the new analysis of the proposal. “We would nip it in the bud.”
Experts working for the Psychiatric Association on the manual’s new definition — a group from which Dr. Volkmar resigned early on — strongly disagree about the proposed changes’ impact. “I don’t know how they’re getting those numbers,” Catherine Lord, a member of the task force working on the diagnosis, said about Dr. Volkmar’s report.
Previous projections have concluded that far fewer people would be excluded under the change, said Dr. Lord, director of the Institute for Brain Development, a joint project of NewYork-Presbyterian Hospital, Weill Medical College of Cornell University, Columbia University Medical Center and the New York Center for Autism.
Disagreement about the effect of the new definition will almost certainly increase scrutiny of the finer points of the psychiatric association’s changes to the manual. The revisions are about 90 percent complete and will be final by December, according to Dr. David J. Kupfer, a professor of psychiatry at the University of Pittsburgh and chairman of the task force making the revisions.
At least a million children and adults have a diagnosis of autism or a related disorder, like Asperger syndrome or “pervasive developmental disorder, not otherwise specified,” also known as P.D.D.-N.O.S. People with Asperger’s or P.D.D.-N.O.S. endure some of the same social struggles as those with autism but do not meet the definition for the full-blown version. The proposed change would consolidate all three diagnoses under one category, autism spectrum disorder, eliminating Asperger syndrome and P.D.D.-N.O.S. from the manual. Under the current criteria, a person can qualify for the diagnosis by exhibiting 6 or more of 12 behaviors; under the proposed definition, the person would have to exhibit 3 deficits in social interaction and communication and at least 2 repetitive behaviors, a much narrower menu.
Dr. Kupfer said the changes were an attempt to clarify these variations and put them under one name. Some advocates have been concerned about the proposed changes.
“Our fear is that we are going to take a big step backward,” said Lori Shery, president of the Asperger Syndrome Education Network. “If clinicians say, ‘These kids don’t fit the criteria for an autism spectrum diagnosis,’ they are not going to get the supports and services they need, and they’re going to experience failure.”
Mark Roithmayr, president of the advocacy organization Autism Speaks, said that the proposed diagnosis should bring needed clarity but that the effect it would have on services was not yet clear. “We need to carefully monitor the impact of these diagnostic changes on access to services and ensure that no one is being denied the services they need,” Mr. Roithmayr said by e-mail. “Some treatments and services are driven solely by a person’s diagnosis, while other services may depend on other criteria such as age, I.Q. level or medical history.”
In the new analysis, Dr. Volkmar, along with Brian Reichow and James McPartland, both at Yale, used data from a large 1993 study that served as the basis for the current criteria. They focused on 372 children and adults who were among the highest functioning and found that overall, only 45 percent of them would qualify for the proposed autism spectrum diagnosis now under review.
The focus on a high-functioning group may have slightly exaggerated that percentage, the authors acknowledge. The likelihood of being left out under the new definition depended on the original diagnosis: about a quarter of those identified with classic autism in 1993 would not be so identified under the proposed criteria; about three-quarters of those with Asperger syndrome would not qualify; and 85 percent of those with P.D.D.-N.O.S. would not.
Dr. Volkmar presented the preliminary findings on Thursday. The researchers will publish a broader analysis, based on a larger and more representative sample of 1,000 cases, later this year. Dr. Volkmar said that although the proposed diagnosis would be for disorders on a spectrum and implies a broader net, it focuses tightly on “classically autistic” children on the more severe end of the scale. “The major impact here is on the more cognitively able,” he said.
Dr. Lord said that the study numbers are probably exaggerated because the research team relied on old data, collected by doctors who were not aware of what kinds of behaviors the proposed definition requires. “It’s not that the behaviors didn’t exist, but that they weren’t even asking about them — they wouldn’t show up at all in the data,” Dr. Lord said.
Dr. Volkmar acknowledged as much but said that problems transferring the data could not account for the large differences in rates.

A Dearth of New Medications for Neuropsychiatric Disease on the Horizon

 

Neuropsychiatric diseases like schizophrenia, depression, Alzheimer’s disease, Parkinson’s disease and more cost billions per year and account for 13% of the global burden of disease (a measure of years of life lost due to premature mortality and living in a state less than full health), according to the World Health Organization.

However, pharmaceutical companies have decided that generating new drugs to treat these disorders are simply too costly to pursue, and are pulling the plug on research and development in this area.

Read more here:  http://www.scientificamerican.com/article.cfm?id=a-dearth-of-new-meds

Altered patterns of gene expression offer new clues in autism.

Dr. Dan Geschwind, director of the Center for Autism Research and Treatment at the University of California, Los Angeles (UCLA), and his team recently measured levels of gene expression — which determine the synthesis of various proteins, each with a specific task in the cell — in the brain tissue of 19 autistic people and 17 healthy ones.
 
They discovered certain patterns of expression common to the autistic brain. 
 
Autistic brains showed very little difference in gene expression between the frontal and temporal lobes, two regions responsible for language, decision-making and emotional responses.
 
Normally, marked differences in patterns of gene expression between these two areas begins in utero during fetal development.
 
 

Using Worms to Treat Disease

 

A father’s determination to help his son resulted in an experimental treatment for autism that uses roundworms to modulate inflammatory immune responses.  The worms might also be helpful for treating other diseases.

Read about it in this article, which also includes videos describing the work:   http://www.the-scientist.com/article/display/57941/