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Sunday, April 32, 2012 Vol. 16 No. 13
RESEARCH
New Genes Contributing to Autism Discovered; Genetic Links Between Neurodevelopment and Psychiatric Disorders
Study of Half Siblings Provides Genetic Clues to Autism
Maternal Obesity, Diabetes Associated With Autism, Other Developmental Disorders
New Stem Cell Found in Brain: Finding Could Be Key to Developing Methods to Heal and Repair Brain Injury and Disease
NEWS
Michigan Autism Bill Signed Into Law
Autism Society of America Displays Controversial Billboard
EDUCATION
Is Television the New Secondhand Smoke?
PEOPLE
Bullied Suicide Autistic Teenager Failed By Agencies
Tattoos Raise Awareness For Puzzle Of Autism
COMMENTARY
Devoted but Dateless
RESEARCH
New Genes Contributing to Autism Discovered; Genetic Links Between Neurodevelopment and Psychiatric Disorders
ScienceDaily — A new approach to investigating hard-to-find chromosomal abnormalities has identified 33 genes associated with autism and related disorders, 22 for the first time. Several of these genes also appear to be altered in different ways in individuals with psychiatric disorders such as schizophrenia, symptoms of which may begin in adolescence or adulthood. Results of the study by a multi-institutional research team will appear in the April 27 issue of Cell and have been released online.
"By sequencing the genomes of a group of children with neurodevelopmental abnormalities, including autism, who were also known to have abnormal chromosomes, we identified the precise points where the DNA strands are disrupted and segments exchanged within or between chromosomes. As a result, we were able to discover a series of genes that have a strong individual impact on these disorders," says James Gusella, PhD, director of the Massachusetts General Hospital Center for Human Genetic Research (MGH CHGR) and senior author of the Cell paper. "We also found that many of these genes play a role in diverse clinical situations -- from severe intellectual disability to adult-onset schizophrenia -- leading to the conclusion that these genes are very sensitive to even subtle perturbations."
Physicians evaluating children with neurodevelopmental abnormalities often order tests to examine their chromosomes, but while these tests can detect significant abnormalities in chromosomal structure, they typically cannot identify a specific gene as being disrupted. Structural variants known as balanced chromosome abnormalities (BCAs) -- in which DNA segments are moved into different locations in the same chromosome or exchanged with segments in other chromosomes, leaving the overall size of the chromosomes unchanged -- are known to be significantly more common in individuals with autism spectrum disorders than in a control population. Several years ago Gusella and Cynthia Morton, PhD, of Brigham and Women's Hospital initiated the Developmental Genome Anatomy Project to identify developmentally important genes by investigating BCAs, but the task of identifying specific chromosome breakpoints has been slow and laborious.
To get a clearer view of the potential impact of BCAs on autism, the research team took advantage of a new approach developed by Michael Talkowski, PhD, of the MGH CHGR, lead author of the Cell paper, which allows the sequencing of an individual's entire genome in a way that detects the breakpoints of BCAs. The whole procedure can be accomplished in less than two weeks rather than the many months previously required. Screening the genomes of 38 individuals diagnosed with autism or other neurodevelopmental disorders found chromosomal breakpoints and rearrangements in non-protein-coding regions that disrupted 33 genes, only 11 of which previously had been suspected in these disorders.
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Study of Half Siblings Provides Genetic Clues to Autism
Featured In biosciencetechnology.com
When a child has autism, siblings are also at risk for the disorder. New research from Washington University School of Medicine in St. Louis shows that the genetic reach of the disorder often extends to half siblings as well. On the surface, the finding may not be surprising — half siblings share about 25 percent of their genes. But the discovery is giving scientists new clues to how autism is inherited.
The study is published online in the journal Molecular Psychiatry.
According to principal investigator John N. Constantino, MD, the new research adds to recent evidence that even though autism is far more common in males, females still can inherit and pass along genetic risk for autism.
“We found that autism risk for half siblings is about half of what it is for full siblings,” he says. “Most of the half siblings we studied had the same mothers. Given that half of the risk of transmission was lost and half was preserved among those maternal half siblings, mothers and fathers appear to be transmitting risk equally in families in which autism recurs."
Constantino, the Blanche F. Ittleson Professor of Psychiatry and Pediatrics and director of the William Greenleaf Eliot Division of Child and Adolescent Psychiatry at Washington University and psychiatrist-in-chief at St. Louis Children’s Hospital, says the findings also suggest that in many families, the transmission of autism is the result of the effects of many genes — not just one — with each contributing a small proportion of risk.
Prior estimates of the extent to which autism is influenced by genetic factors are derived from studies of identical and fraternal twins where one, or both, are affected by the disorder. Since identical twins share 100 percent of their genes, and fraternal twins share 50 percent, inherited conditions tend to be twice as common in an identical twin pair compared to a fraternal twin pair. But twin studies of autism are too small to give precise estimates about how the disorder is inherited.
“The largest studies have included less than 300 clinically affected twin pairs,” Constantino says. “And they include girls, boys and mixed twin pairs, which complicates the testing of models of inheritance in autism because the disorder is much more common in boys than girls."
Other studies have focused on siblings of children with autism, looking at how much more common autism recurrence is in siblings than the general population. But to derive more information on genetic structure from their family studies, Constantino’s group looked at autism recurrence in half siblings and compared it to that in full siblings.
The researchers studied over 5,000 families in which there was a child with autism and at least one additional sibling — the families were enrolled in a national volunteer, Internet-based family registry for autism, the Interactive Autism Network (IAN). Among those families, 619 included at least one maternal half-sibling. The researchers focused on maternal half-siblings rather than paternal half siblings because these children were more likely to live full-time with their biological mothers and to share the same environmental influences between the time they were born and the age of two, the time at which the onset of autistic syndromes occur. They compared autism recurrence among the 619 maternal half siblings to the rate among 4,832 full siblings.
• • •
Maternal Obesity, Diabetes Associated With Autism, Other Developmental Disorders
ScienceDaily — A major study conducted by researchers affiliated with the UC Davis MIND Institute has found strong links between maternal diabetes and obesity and the likelihood of having a child with autism spectrum disorder (ASD) or another developmental disorder.
The study, which investigated the relationships between maternal metabolic conditions and the risk of neurodevelopmental disorders, found that mothers who were obese were 67 percent more likely to have a child with ASD than normal-weight mothers without diabetes or hypertension, and were more than twice as likely to have a child with another developmental disorder.
Mothers with diabetes were found to have nearly 67 percent more likely to have a child with developmental delays as healthy mothers. However, the proportion of mothers with diabetes who had a child with ASD was higher than in healthy moms but did not reach statistical significance.
The study also found that the children of diabetic mothers who had ASD were more disabled -- had greater deficits in language comprehension and production and adaptive communication -- than were the children with ASD born to healthy mothers.
However, even children without ASD born to diabetic mothers exhibited impairments in socialization in addition to language comprehension and production, when compared with the non-ASD children of healthy women. Children without ASD of mothers with any of the metabolic conditions displayed mild deficits in problem solving, language comprehension and production, motor skills and socialization.
"Over a third of U.S. women in their childbearing years are obese, and nearly one-tenth have gestational or type 2 diabetes during pregnancy. Our finding that these maternal conditions may be linked with neurodevelopmental problems in children raises concerns and therefore may have serious public-health implications," said Paula Krakowiak, a PhD Candidate in Epidemiology affiliated with the MIND Institute. "And while the study does not conclude that diabetes and obesity cause ASD and developmental delays, it suggests that fetal exposure to elevated glucose and maternal inflammation levels adversely affect fetal development."
The study, "Maternal metabolic conditions and risk for autism and other neurodevelopmental disorders," is published online April 9 in Pediatrics, the Journal of the American Academy of Pediatrics. Its authors said that it is the first study to examine the associations between neurodevelopmental disorders and maternal metabolic conditions not restricted solely to type 2 or gestational diabetes. It is also the first to include obesity and hypertension, which have similar underlying biological characteristics, and to investigate correlations between these conditions and impairments in the skills and abilities of children in specific developmental domains.
Over 60 percent of U.S. women of childbearing age are overweight; 34 percent are obese; and 16 percent have metabolic syndrome. Nearly 9 percent of U.S. women of childbearing age are diabetic, and more than 1 percent of U.S. pregnancies were complicated by chronic hypertension. In California, where the study was conducted, 1.3 percent of women had type 2 diabetes, and 7.4 percent had gestational diabetes.
Autism spectrum disorder is characterized by impairments in social interaction, communication deficits and repetitive behaviors and often is accompanied by intellectual disability. An estimated 1 in 88 children born today will be diagnosed with autism spectrum disorder, according to statistics recently released by the U.S. Centers for Disease Control and Prevention. An estimated 1 in 83 U.S. children has another developmental disorder, which includes other disorders resulting in intellectual disability.
• • •
New Stem Cell Found in Brain: Finding Could Be Key to Developing Methods to Heal and Repair Brain Injury and Disease
ScienceDaily — Researchers at Lund University in Sweden have discovered a new stem cell in the adult brain. These cells can proliferate and form several different cell types -- most importantly, they can form new brain cells. Scientists hope to take advantage of the finding to develop methods to heal and repair disease and injury in the brain.
Analyzing brain tissue from biopsies, the researchers for the first time found stem cells located around small blood vessels in the brain. The cell's specific function is still unclear, but its plastic properties suggest great potential.
"A similar cell type has been identified in several other organs where it can promote regeneration of muscle, bone, cartilage and adipose tissue," said Patrik Brundin, M.D., Ph.D., Jay Van Andel Endowed Chair in Parkinson's Research at Van Andel Research Institute (VARI), Head of the Neuronal Survival Unit at Lund University and senior author of the study.
In other organs, researchers have shown clear evidence that these types of cells contribute to repair and wound healing. Scientists suggest that the curative properties may also apply to the brain. The next step is to try to control and enhance stem cell self-healing properties with the aim of carrying out targeted therapies to a specific area of the brain.
"Our findings show that the cell capacity is much larger than we originally thought, and that these cells are very versatile," said Gesine Paul-Visse, Ph.D., Associate Professor of Neuroscience at Lund University and the study's primary author. "Most interesting is their ability to form neuronal cells, but they can also be developed for other cell types. The results contribute to better understanding of how brain cell plasticity works and opens up new opportunities to exploit these very features."
The study, published in the journal PLoS ONE, is of interest to a broad spectrum of brain research. Future possible therapeutic targets range from neurodegenerative diseases to stroke.
"We hope that our findings may lead to a new and better understanding of the brain's own repair mechanisms," said Dr. Paul-Visse. "Ultimately the goal is to strengthen these mechanisms and develop new treatments that can repair the diseased brain."
NEWS
Michigan Autism Bill Signed Into Law
insurancenewsnet.com
Photo by
Bill Pugliano/ Getty Images
Lansing, Mich. - The Michigan Senate Republicans issued the following news release:
Senate Majority Leader Randy Richardville, R-Monroe, joined Lt. Governor Calley yesterday as he signed into law legislation to require insurance coverage for the treatment of autism.
"I am so proud to be a part of this bill signing. This is a cause that I have supported for several years and I am happy to join with my colleagues and the Lieutenant Governor to help bring treatment and insurance coverage to the 15,000 children and families affected by autism," said Richardville.
Senate Bills 414 and 415 require coverage of autism spectrum disorder in certain health insurance policies and covers a wide range of categories from autism to Asperger's syndrome to pervasive developmental disorders.
Treatment of autism under this legislation includes behavioral health treatment, pharmacy care, psychiatric care and therapeutic care.
Senate Bill 981, sponsored by Richardville, creates an autism coverage fund in the Department of Treasury to reimburse health insurers for claims paid for autism spectrum disorder diagnoses and evidence-based treatment.
Similar legislation has been passed in 29 other states and most others have an autism bill on their legislative agenda.
"This legislation not only requires treatment for autism, but also creates a partnership between businesses and the state to cover the cost of treatment," said Richardville.
• • •
Autism Society of America Displays Controversial Billboard
The Autism Society of American has created some controversy by putting up a billboard in Texas which denies late onset autism, but asserts they are born with it. Many parents reacted negatively to the message indicating on blogs and social networks that their children did not present symptoms of autism until 18 months to three years after birth and thus were not born with it.
The ASA in response stated that they did not take full responsibility for the billboard which was put up independently by a donor.
+ Read ASA statement.
• • •
EDUCATION
Is Television the New Secondhand Smoke?
By Sarah D. Sparks blogs.edweek.org
According to a new media study.pdf presented at the International Communication Association annual conference in Phoenix, Ariz., children ages 8 months to 8 years are exposed to nearly four hours each day of television playing in the background.
Matthew Lapierre, a doctoral candidate at the University of Pennsylvania's Annenberg School for Communication, Jessica T. Piotrowski, assistant professor for communication research at the Universiteit van Amsterdam, and Deborah L. Linebarger, an education professor at the University of Iowa, surveyed more than 1,450 English-speaking homes with children from 8 months to 8 years old. The researchers found on average children spent four hours daily with television in the background—not counting the more than 80 minutes that children under 6 watch television shows on average each day.
Television was even more likely to be the soundtrack for young and minority children's lives. Children under 2 years old had background television on average 5.5 hours a day, compared to under 3 hours a day for children 6 and older. Likewise black children were exposed to 5.5 hours of background television each day, compared to 3.5 hours each day for white children.
Prior research suggests background television can have a "chronic disruptive impact on very young children's behavior." Studies have linked background television to less focused play among toddlers, poorer parent-child interaction, and interference with older students' ability to do homework.
"For every minute of television to which children are directly exposed, there are an additional 3 minutes of indirect exposure, making background exposure a much greater proportion of time in a young child's day," the study noted.
"Considering the accumulating evidence regarding the impact that background television exposure has on young children, we were rather floored about the sheer scale of children's exposure with just under 4 hours of exposure each day," Lapierre said in a statement on the study. Lapierre and his fellow researchers recommended that parents, teachers and early childcare providers turn off televisions when no one is watching a particular program and that parents prevent children from keeping a television in their rooms.
It's easy to think about this as just one more alarm about how our modern media environment is ruining our kids. Yet the more interesting take-away from this field of research is how critical it is for children to learn actively and socially. Children learn from adults speaking to, with and around them, and from actively engaging with their world.
Anything that limits or distracts from that active interaction can be a problem, but not an insurmountable one. For example, researchers at the University of Washington's Learning in Formal and Informal Environments, or LIFE, Center, is doing some fascinating work on the potential benefits of interactive media. There's also been some interesting work on using video conferencing to read with children.
• • •
PEOPLE
Bullied Suicide Autistic Teenager Failed By Agencies
buryfreepress.co.uk
Gareth Oates missing from Stowmarket
Gross failures in the care given to a bullied autistic teenager from Stowmarket who died when he threw himself in front of a train amounted to negligence, a coroner said yesterday.
Gareth Oates died instantly a month after his 18th birthday when he was hit by a train after travelling to Marsden Station, near Huddersfield, West Yorkshire.
A three-day inquest in Bradford heard how he was bullied while he studied at West Suffolk College, in Bury St Edmunds, with some students routinely calling him ‘suicide boy’.
Bradford Coroner Paul Marks heard how Gareth’s mother, Glenys Oates, mounted a desperate battle to get appropriate mental health intervention for her son in the run up to his death on March 2, 2010.
He had already tried to kill himself once and had talked of suicide from the age of 11.
Yesterday, Professor Marks said Gareth was failed by a number of agencies including those dealing with mental health, social services and education.
He said it was probable that treatment with certain drugs or the appropriate use of the powers under the Mental Health Act would have ‘averted his death’.
The coroner said there was a clear gap in provision in psychiatric care for young people between 16 and 18 years old who were too old for child services but too young to benefit from adult interventions.
+ Read more.
• • •
Tattoos Raise Awareness For Puzzle Of Autism
hometownlife.com
“We were contacted by Ink4Autism, and because we have six locations and we have so many tattoo artists, we feel that with the help of our customers, we can make a sizeable donation to this cause,” said APT owner Steve Elliot. “We thought it was a great idea, because throughout the year we have quite a few people coming in to get the puzzle piece tattoos."
Last Saturday at APT's Berkley location, Roseville resident Chris Rahn was “relaxing” on his back as tattoo artist Jennifer Elliot carefully created the outline of a 6-inch long ribbon on the right side of his upper torso. One-half of the ribbon would be inked in pink (representing breast cancer) and the other half would be filled in with multi-colored puzzle piece shapes.
“Over the years, I've done the puzzle pieces, and I really wasn't aware that they had a symbol until someone came in and said, ‘you know that represents autism.' I really don't know much about autism, but this is making me learn a little bit more about it,” Elliot said over the buzz of her tattoo machine.
Describing the feeling of the tattoo needles as “scratching a sunburn with a fork,” Rahn said he was getting the tattoo as a way of supporting family and friends who are touched by the disorders, including his good friend Ken Bratten of Warren who stopped by the Berkley shop. The father of three boys, ages 6, 9, and 10, Bratten had a puzzle piece tattoo designed by Elliot on his right forearm in support of his oldest sons, Joey and Alex, who both have autism.
The puzzle begins “Joey has the most severe symptoms of the spectrum,” said Bratten, who noted that early on his son would say words and sing like any other two-year-old child.
+ Read more.
• • •
COMMENTARY
Devoted but Dateless
By Hannah Brown, NY Times
A close friend keeps saying: “Just lie about it on the first few dates. It’ll be all right.” She means lie about age. Not mine, though — my son’s.
Danny, my older child, is 16; we were told he was autistic when he was 3. His father and I were divorced several years ago. I can go out only when my ex-husband is with the children, or when I can find a baby sitter, which means there is no room for spontaneity, for that moment when you’re chatting online and one of you says, “Let’s meet for coffee now."
This is all pretty standard for any single mother, except that normally teenagers can be left on their own, at least for an hour. Danny’s 12-year-old brother, Rafi, is happy to play video games without me around to tell him to do his homework. Still, I won’t leave Rafi in charge of his brother, because he can’t manage Danny when Danny is anxious or having a tantrum, which happens often, especially if I’m not there to calm him.
So where does the lie come into it?
Well, the first date is always a bit of a job interview, and among the first questions you expect when you’re a parent is, “How old are your kids?” My problem is if I admit early on that I have a teenager who needs a baby sitter, I more or less have to explain that my son is autistic. Hence, my friend’s advice: pretend I have a much younger child, and nobody will think it’s weird that I can’t leave a toddler alone.
Few men are thrilled by the idea of dating a woman with children, and a child with a disability, particularly one that can be as demanding as autism, is not exactly an aphrodisiac. I learned this the hard way when I started dating after my husband left.
At first I hoped someone would fix me up, but no one did. None of my friends with autistic children ever get set up either, even the blond, skinny, gorgeous ones. So online dating becomes the only option, since most of us rarely see any adults but the therapists, generally female, who work with our children.
I hesitated, nervous about entering the world of Internet romance. But my friend said: “You don’t have to find the love of your life. Just get out of the house."
So I went online. I didn’t intend to introduce my children to anyone I dated unless the relationship became serious. I didn’t realize, though, that just mentioning that I had an autistic child would be so problematic.
After I said the A-word the first few times, the faces of my dates invariably took on one of two expressions: deep sympathy or deep horror, coupled, in either case, with an obvious end to any romantic interest. I shouldn’t have been surprised. As my friend likes to put it, “If their own fathers walked out, why would any other man want to walk in?"
The second autism came up, the tone of the date shifted from fun and intrigue to a mini-symposium on the subject, with my date in the audience and me on the podium, not exactly conducive to romance. When was Danny’s autism first diagnosed? What kind of treatments have I tried with him? What is his prognosis? Will he ever be able to live independently?
+ Read more.
Note: The opinions expressed in COMMENTARY are those of the author and do not necessarily represent the views of the Schafer Autism Report.
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