Autism News and Studies
Study: Chromosome change points to autism
People who possess a specific change in one of their chromosomes are nearly 14 times more likely to develop an autism spectrum disorder or schizophrenia than those without this change, according to a new study.
The change, which is called a deletion, happens when a section of chromosome 17 is missing. The deletion is found only in people who have an autism spectrum disorder, a developmental delay or schizophrenia, said study researcher David H. Ledbetter, a genetics professor at Emory University.
“This is just adding one more to that rapidly growing list of genetic mutations” associated with autism that doctors could use to measure autism and schizophrenia risk in children, Ledbetter told MyHealthNewsDaily.
Not all people with autism, a developmental delay or schizophrenia have this deletion. But all people who have the chromosome change will develop some form of the disorders, whether it’s mild or strong enough for a diagnosis, he said.
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Schizophrenia and autism are separate disorders, but other recent research has also shown the two have genetic similarities.
“At least in a subset of autism and a subset of schizophrenia, the same [genetic changes] play a major role in both,” Ledbetter said. “It will be interesting in the future, because we’ll have the ability to identify this type of deletion in young children, and follow them to figure out why some of them do develop autism and some don’t.”
The new study was published today (Nov. 4) in the American Journal of Human Genetics.
Detecting the deletion
Researchers looked in a genetic database of 15,749 people with a developmental delay, intellectual disability or an autism spectrum disorder.
They found 18 of these people had the deletion on chromosome 17. But not one of the 4,519 healthy people tested had the deletion, according to the study.
Researchers tracked down nine of the 18 people in the database with the genetic deletion. All nine had cognitive impairments, and six of them had autism, the study said.
To confirm these findings, researchers looked at two other databases that had genetic information for 7,522 people with autism or schizophrenia. They found the same deletion in two people with an autism spectrum disorder or cognitive impairment, and four adults with schizophrenia. None of the 43,076 healthy people tested had the deletion.
“That means the deletion has a major phenotypic effect,” Ledbetter said. “It can manifest as developmental delay, intellectual disability or autism, or it may not be diagnosed and recognized until adulthood when there are psychiatric manifestations that lead to a diagnosis of schizophrenia.”
New Study Will Test Theory That Enzyme Contributes to Autism
The debate rages on both the causes and “cures” for autism. There is the mercury-vaccination contingent, the gluten-free, casein-free diet supporters, those that believe genetics play a role, and the list goes on. There may very well be multiple etiologies for this developmental disorder, and research continues throughout the world to determine, definitively and finally, what that is.
One of the newest clinical trials is just beginning across the country, at fifteen institutions, including the University of California at San Francisco. Funded by Curemark, a New York-based drug company, this Phase III clinical trial for CM-AT autism treatment, has been granted fast track status by the FDA. Researchers will be testing whether certain children with autism can benefit from regular doses of an enzyme to help them digest proteins, which may in turn improve their brain function and ease some symptoms of autism.
The trial is not without its naysayers. There is very little research to support the premise that a missing enzyme is a factor in the cause of autism. There are those studies which have shown that a small subset of children diagnosed with autism have enzyme deficiencies, but there is debate as to whether it is a causation or a symptom of the disorder. But with a new case of autism being diagnosed every 20 minutes in America, it is imperative that research such as this be conducted. Sometimes, with a bit of persistence and creative thinking, you do find that needle in a haystack.
The trial will involve 170 children, ages three to eight, over a 90-day period. Half of the participants will be a control group and receive a placebo, while the other half will receive three enzyme treatments per day (a tasteless powder sprinkled over food). At the end of the 90 days, parents can remove their children entirely from the project or choose to continue for one year on the enzyme regimen.
“The treatment is enormously simple, but finding it out wasn’t simple at all,” said Joan Fallon, chief executive of Curemark. “Is it theoretical? Yes. But we hope the trials will give some benefit to a subgroup of children. And we hope our trials will make other researchers look at the physiology of the disorder.”
Curemark has identified a series of biomarkers that determine which children with autism and Pervasive Developmental Disorder (PDD) may have digestive deficiencies underlying or as a major component of their disease. Research by Dr. Fallon showed enzyme deficiencies in children with autism, resulting in an inability to digest protein. The inability to digest protein affects the production of amino acids, the building blocks of chemicals essential for brain function.
Autism is a neurological and biological disorder which typically affects children ages 18 months to 5 years of age. It knows no racial, ethnic or social boundaries. A child’s chances of having autism are not determined by their family’s lifestyle, education or income.
Local author tells of journey with Autism
The average 2-year-old can speak more than 100 words. By 3, that number jumps to anywhere from 200 to 1,000. Michael Swaner never hit those milestones. In 32 years he has never spoken a word.
As an infant, Michael was diagnosed with severe low-functioning autism, a neurological disorder that impedes brain development. More than one million people in the United States are affected by autism, though only a small percentage of those cases are as severe as Michael’s.
“If there’s one thing you don’t get enough of with autism, it’s affection,” said Michael’s mother Ruth Swaner, USU graduate and author of the book “Words Born of Silence.”
The book, Swaner’s third, is about her personal journey in dealing with the anger, denial, acceptance and what she likes to call “over-dedication” of autism.
“One day my oldest son came up to me and said ‘We’re tired of helping you take care of Michael,'” she said. This was a turning point. She realized that she was so caught up in Michael’s needs that she wasn’t meeting the needs of her family or herself.
“She’s been through a lot with her son,” said Margaret Jacobs, a friend of Swaner’s who has worked with autistic children in the Netherlands. “She’s gotten through it with faith and friends.”
In his childhood, caring for Michael was a 24-hour-a-day task. Swaner said often one of the most pronounced symptoms of autism is a bizarre obsession with certain items. Unfortunately for Swaner, Michael’s childhood fixations were with water, dirt, and his own feces.
One night, she woke up and he had smeared his feces all over the wall. Another time, when the Swaners were remodeling their current home in Smithfield, she left Michael in the living room while she went to change her clothes.
Hearing some unusual noise, she walked down the stairs to find that Michael had taken all of the dirt out of her flower pots, mixed it with water and coated the walls in mud.
“I simply cried,” she said. “He didn’t know the difference between right and wrong, he just liked the texture.” Not knowing what to do, she called her new neighbor Christina Greene, who she had never met.
Christina had a son named Luke who, like Michael, suffered from severe autism. Even at the prompting of close friends, Swaner had resisted meeting her.
“If she hadn’t fallen apart like I had, I didn’t want to meet her,” Swaner said. Christina immediately came to her aid, gathering neighbors to help clean up the mess.
By the time Swaner came back down the stairs, the mess was clean, Michael was being watched by a neighbor, and there was a fresh loaf of bread sitting on the counter.
It was the start of a 25-year friendship, or as Swaner puts it. “a 25-year journey helping autistic children.”
“I learned I didn’t have to be a perfect Mormon mother,” Swaner said. “I learned to ask for help.”
Michael’s autism was severe enough that at age 13 he was placed in a group home that could meet his needs. However, there are many autism-diagnosed students who live fully functional lives and attend school full time. For students whose needs may often fly under the radar, there are resources all over Cache Valley and at USU.
Diane Baum, director of the Disability Resource Center, said the center is open to any student that needs help. This includes those who have any form of autism.
“We look at every individual case,” Baum said. “We’ve even had graduate students with autism.” Students may qualify for extra time on tests, or a private exam room. It all depends on their needs, she said.
Even though Michael is no longer living at home, his journey is far from over. He still visits his parents on occasion, and comes home for family holidays. Now that Ruth and her husband are in their 60s, bringing him home is a challenge.
“The home can do fun things for him that we couldn’t do like shopping, movies, and going to fairs,” she said.
Although it has been a long road, Swaner said she wouldn’t change what she’s been through. She says it’s because of Michael that she discovered her ability to write.
Although at first she wrote only therapeutically in journals, with friends’ encouragement she sent a selection of her writing to The Deseret News. From there, she went on to write for many publications and became president of the Utah League of Writers.
“He’s given me this gift,” she said. “I would have never known that I could be a professional writer without him.”
The greatest lesson Swaner has learned through her journey is that accepting service from others is a keystone in life, and that nobody is perfect.
“You do what you can do with the opportunities you have at hand,” she said. “No woman with autistic children should do this without help. You don’t have to bear this alone.”
Copies of Swaner’s book can be found online at Amazon, IUniverse and Borders. They can also be found at The Book Table and Lee’s Marketplace in Smithfield. She will have a book signing hosted by The Book Table Dec. 3 from 6 p.m. to 12 p.m.