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Archive for the ‘Healthcare’ Category

The Costs of Coal

In Climate Change, Healthcare on August 5, 2013 at 11:55 am

This article first was published by Spare Change News on August 9, 2013.

coalCamilo Viviero grew up in Somerset, Mass., in the shadow of two coal-fired power plants. “For years growing up, you would hear around midnight this air horn. That’s when they would send out the plumes of toxins. In the middle of the night, while we were sleeping,” he says.

One of those plants was decommissioned in 2007. The second plant, Brayton Point Power Station, still provides electricity to over a million homes in Mass. Last month, protesters from area environmental organizations rallied in front of Brayton Point as part of a series of protests across the nation by the environmental advocacy group [Editor’s note: See “Turning Up the Heat on Coal Power in Massachusetts,” on page 8 of his issue, for more about this protest.]

At a fundraiser in Cambridge held a week before the protest, seasoned activist and founder Bill McKibben made the global case for reducing fossil fuel emissions.

“The science is troubling in the extreme. Last year was the hottest year on record in the United States, and we just came through the second hottest June in the history of the planet. . . . Things continue to fall apart,” McKibben told a crowd of around 150 activists gathered at the First Parish Cambridge Unitarian-Universalist Church.

For Viviero and other residents living in communities at the foot of coal-fired power plants, the issue is personal.

When Viviero watches his nieces pause during a soccer game to use their rescue inhalers, he wonders if pollution from the power plants could have caused or exacerbated their asthma. As a child, he knew several children with leukemia and heard adults speculate that the town could be part of a cancer cluster. Every time he hears of a neighbor suffering from a stroke or a heart attack, he wonders if the plants could be to blame.

Many residents in communities around Holyoke and the 50-year-old Mount Tom Power Station are asking the same questions, says Claire Miller, a community organizer for Toxic Action Center, a grassroots environmental justice advocacy organization.

Asthma rates in Holyoke are nearly twice the state average, according to the Asthma Regional Council’s 2009 assessment of the state’s asthma burden commissioned by the Governor Deval Patrick’s administration.

“We have to close down these power plants, not just because of climate change, which is roaring down on us, but because people are sick today,” Miller said.

While there is no conclusive evidence that power plant pollution directly causes asthma, there is robust evidence that it exacerbates the disease, says Jonathan Levy, an environmental health professor at Boston University with expertise in air pollution from power generation.

“If you have asthma, you are more likely to suffer from an acute attack or to be hospitalized if exposed to pollutants emitted by coal-fired power plants,” he said.

There is also a definitive link between cardiovascular disease and risk of heart attacks, he said.

The combustion of coal produces a variety of air pollutants that can be harmful to human health. Nitrogen oxides (NOx) react with molecules in the air to create atmospheric ozone, which can burn lung tissue and cause respiratory problems. Sulfur oxides (SOx) contribute to the formation of fine acidic particulates that can penetrate the lining of the lungs and absorb into the bloodstream. Particles of soot or “fly ash” can lead to chronic bronchitis. Heavy metal particles can cause brain damage and heart problems.

State and federal legislators have imposed regulations on the power industry to upgrade facilities in ways that will reduce these emissions.

The media office for Dominion Energy, which currently owns the Brayto Point Power Station, issued a public statement in response to last month’s protest. “The Brayton Point Power Station—capable of powering up to 1.6 million homes—is one of the cleanest electricity generators of its kind and is in compliance with all environmental regulations. More that $1 billion has been invested in recent years to reduce its impact on the air and water significantly.”

However, incremental improvements are little consolation to Viviero and his neighbors.

“There have been scrubbers added and pollutants have decreased, but the more insidious forms of pollution, the small particulate matter still exists. There is still soot . . . . There are still toxins seeping out that are getting into our children’s lungs and into our senior citizens’ lungs,” he said.

Levy agrees that upgrades to existing plants can only bring a degree of improvement. While he acknowledges that emissions have gone down at Brayton Point, he points out that the facility is still the highest-emitting power plant in New England.

Just a few years ago, there were four coal-fired power plants in the commonwealth: Brayton Point Power Station and Somerset Power Generating Station in Somerset, Mount Tom Power Station in Holyoke, and Salem Harbor Power Station. Somerset closed in 2010 to avoid costly upgrades required by state and federal regulations. Salem Harbor is scheduled to close in 2014.

While residents and environmentalists in the communities surrounding Salem harbor are celebrating the closing of the plant, the town of Salem is left scrambling to make up the loss of its largest taxpayer, reports Salem Patch.

Power plants are often situated in low-income and minority communities where jobs are scarce and the tax base is small.

When both Somerset plants were operational, they provided the town with 40 percent of its tax base. However, the closing of the Somerset Power station three and a half years ago and a recent devaluation of Brayton Point have led to a $14 million reduction of in-tax revenue, according to The Spectator, a local newspaper serving Somerset and Swansea. This year, the town increased residential and business property taxes by 20 percent to make up some of the revenue loss.

“The owners of these facilities have a spin and they tell people to blame environmentalists,” Viviero said, but he believes that the issue is far more complicated than that.

Many residents of Somerset, including Viviero’s family, are immigrants from the Azores. His mother worked in the garment industry and his father worked in construction. While the textile industry once thrived in the area, the mills shut down decades ago.

Many people in Somerset and the surrounding communities depend on Brayton Point for employment.

This article first was published by Spare Change News on August 9, 2013.

coal“These are some of the only jobs in the area. They are union and good-paying jobs,” Viviero said. “But the jobs that are here are polluting our families and bringing toxins into our homes.”

Viviero sees this as an issue of environmental injustice; the pollution is disproportionately distributed to low-income and minority communities.

Last fall, the National Association for the Advancement of Colored People (NAACP) issued Brayton Point a failing report card for environmental justice, ranking the plant fourteenth out of the 75 most egregious offenders.

Low-income and minority communities also tend to be more susceptible to resulting health risks, says Levy.

“Low income communities and communities of color tend to have higher rates of diabetes, asthma and things that make you more susceptible. People in these communities will feel greater health effects [from pollution],” Levy said.


Delaware seeks to fill persistent shortfall in child mental health services

In Healthcare on August 5, 2013 at 11:10 am

WDDE graphicThe state of Delaware has seen slow progress so far in its efforts to bring specialized child and adolescent psychiatric care to Sussex and Kent counties, despite a devastating string of 11 teen suicides and 116 suicide attempts in southern Delaware last year.

Many of the suicides occurred while a special task force was examining unmet child and adolescent mental health needs following the arrest and conviction of Earl B. Bradley for sexually abusing more than 100 patients in his pediatric practice, which left Kent and Sussex County mental health providers scrambling to find skilled support for the victims.

In March 2012, the task force issued a series of recommendations for expanding care in southern Delaware, including a top-priority charge to attract at least two psychiatrists trained to work with adolescents and children to establish a private practice in Sussex County.

That recommendation has proved difficult to fulfill, according to state officials.

“I think they are a significant way down the road to getting one, which would be 50 percent of the target, but it’s been a significant challenge,” said Lt. Governor Matt Denn. “As far back as anyone can remember, there’s been a shortage in Sussex County primarily but also in parts of Kent County.”

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Chronic National Shortage of Child and Adolescent Psychiatrists Takes Heaviest Toll on Low Income Families

In Healthcare on July 21, 2013 at 11:39 am

This article first was published by Spare Change News on Friday, July 12, 2013.

teen mental health 2


“I don’t know exactly what happened to drive that young man in Aurora to shoot those people, but I do know that many people like him suffer while undiagnosed and untreated,” said Jess Shatkin, an associate professor of child and adolescent psychiatry at New York University.

July 20 marks one year since James Eagan Holmes massacred 12 people and injured 70 more inside an Aurora, Colorado movie theater. Since then, Adam Lanza opened fire in a Newtown, Connecticut elementary school; a 20-year-old college student killed four people in Orange County, California during a drive-by shooting; and a 19-year-old in New Orleans opened fire on a Mother’s Day parade.

In each of these tragedies, images of isolated and despondent young male perpetrators have emerged in the aftermath. And after each tragedy, the nation vowed to launch a national discussion of mental health.

In fact, millions of young people in America are suffering from untreated mental illness, and the American healthcare system is not equipped to care for them, according to experts in child and adolescent psychiatry. The U.S. Surgeon General’s office estimates that only 20 percent of emotionally disturbed children receive mental health services.

Those children do not automatically shed their emotional problems on their 18th birthday. They become adults with mental illness. Some find treatment as adults; some turn to drugs and alcohol to manage their symptoms; and some lose control.

The American Medical Association estimates that there are 15 million American children in need of psychiatric care and just 7,000 child and adolescent psychiatrists to treat them.

This discrepancy can leave families waiting months for their children see a therapist, which can take a toll on individual families and the community, said Christopher Thomas, the director of child psychiatry residency training at the University of Texas, Galveston.

Untreated adolescents who struggle with emotional problems can fall behind in school, develop substance abuse problems and engage in dangerous and risky behavior, Thomas said.

“Well over 80 percent of youth in juvenile justice placement have a substance abuse problem. More than half likely have a mental disorder,” Thomas said. “The juvenile justice system is becoming the de facto mental health provider for a large number of these youths, sadly.”

Thomas has spent over a decade studying the shortage and distribution of child and adolescent psychiatrists in the U.S. His 1999 paper in the Journal of the American Association of Child and Adolescent Psychiatrists (AACAP) spurred the AACAP to launch a task force on workforce issues, which aims to recruit medical students into the specialty.

Both Shatkin—the current chair of the AACAP Workforce Issues Committee—and Thomas said that recruiting new students into the field continues to be an uphill battle more than a decade later.

The specialty requires an additional two years of training beyond the three years of general psychiatry studies. The extra time and student loans discourage potential students, Shatkin says.

“The best we can hope for is staying pretty much in the situation that we are already in, but I fear that we might actually be falling further behind,” Thomas said.

Meanwhile, children around the country wait months for the necessary care.

While the number of untreated children varies around the country, the AACAP has found a shortage of providers in every state.

Even Massachusetts, which has the highest per-capita ratio of child and adolescent psychiatrists, falls short of meeting the need in many communities, says Stuart Goldman, senior associate in psychiatry and co-director of the Mood Disorder Program at Boston Children’s Hospital.

That shortage is compounded by an unequal distribution along socioeconomic lines, with the majority of child and adolescent psychiatrists practicing in affluent communities, Goldman said.

While many wealthy neighborhoods of Boston have an abundance of private practice and outpatient hospital physicians, areas like South Boston, Dorchester, and Roxbury do not have many local providers.

“One of the issues [exacerbating the problem] is that kids who are living in poverty have higher mental health problem rates,” said Goldman. “Just the problem of being poor is a challenge, but they also live in communities with lower property taxes and lower housing costs, which typically translate to poorer schools and fewer community services”

These disparities persist throughout the country. The communities most in need tend to have the least access to mental health services. The problem becomes self-perpetuating.

Many doctors who start out in a clinic setting quickly become overwhelmed by the heavy caseload, Shatkin says.

As part of his residency training, Shatkin worked in an Arkansas clinic where he says he routinely saw 15 patients a day, 10 new patients a week, and still had a six-month waiting list.

In medical school, child and adolescent psychiatrists are taught to take time to get to know patients and to reach out to the various caregivers in their lives to learn how they function in the real world, Shatkin said.

“We all started with the best intentions, but it becomes very difficult to practice psychiatry the way you know you should practice psychiatry when you are so crammed with patients,” he explained.

In the end, many practitioners opt to leave the clinic setting. Instead they open up private practices where patients can afford to pay service-based fees.

“Everybody gets sick and needs care, so it’s not like you’re doing the wrong thing treating these people. They need help, too, and they are able to pay for the time. To be honest, treating people when you have the time is a delight,” Shatkin said.

That is of little comfort to the low-income families struggling to cope with their children’s emotional issues. The current economic climate has deepened the problem, as it has placed added strain on both family budgets and social services.

Thirty years ago, community mental health centers provided local counseling services to residents in their own neighborhoods, Goldman recalls. “Many dried up in the 1990s, and more dried up in the economic downturn of the last five years,” he said.

“While we want to be a society that protects and cares for the least fortunate . . . in tough budget times, the services for indigent care and for child care suffer,” Goldman said.

Beachgoers beware: Local study shows potential risks of playing in surf

In Healthcare on July 3, 2013 at 8:45 am

This article was first published by, the online arm of Delaware’s NPR News Station on July 2, 2013.

1024px-Rehoboth_Beach_at_Delaware_Avenue“Never turn your back on the ocean. It’s the equivalent of closing your eyes and running across four lanes of traffic,” says Paul Cowan, Chief of Emergency Medicine at Beebe Medical Center in Lewes.

More than 1,000 patients have sought emergency medical treatment for blunt trauma injuries sustained while cooling off in the Southern Delaware surf since 2010, according to an ongoing study conducted by Beebe Medical Center and the University of Delaware Sea Grant College Program.

“Every person who rides a motorcycle knows that they are engaging in a dangerous activity; but not every person that gets injured in the surf has any idea that what they were doing was any more dangerous than just walking on the sand or walking on the boardwalk,” he adds.

Most beachgoers know to look out for stinging jellyfish, to slather on sunscreen, and to keep a close eye on young children in the surf; however, few are aware how easily a wave can knock adults off their feet.

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Risky Business: Turning to Sex for Survival

In Healthcare on July 2, 2013 at 9:18 am

This article first was published by Spare Change News on Friday, June 28, 2013.

RiskWhen Travis turned his first trick, he still had an apartment in Roslindale and a job as a retail clerk.

He was doing “well enough” financially until January 2010, when his shifts were cut to just five hours per week. His housemate helped him pay his rent for as long as she could.

He looked for additional work, but with youth unemployment at the highest rate seen in decades, he came up empty-handed. And while the fractured job market has driven many young people back to their family home, this was not an option for Travis.

He has not felt welcome at home since coming out to his family as gay.

Travis had heard that an acquaintance had made a fair amount of money by selling sex to older men. The idea seemed risky, but he was facing the possibility of becoming homeless within the month and felt desperate. Hesitantly, he went with this acquaintance to meet two men willing to pay for sex in a motel room. He made some money, but not enough to pay his rent. He soon landed on the street.

“The number of times that I have slept outside while it was snowing is just too many for anyone. Nobody should have to sleep outside in the snow,” he said.

The idea of getting to sleep in a motel bed and earning some cash by having sex with a stranger became more appealing, he says.

He added his email address and phone number to a loosely organized network of sex workers around the city and spent several months engaging in sex work.

For many young people living on the street, sex for money or lodging can be a means to survival.

Every year, 500 young adults seek help at Youth On Fire (YOF), a drop-in center in Cambridge that serves homeless street-youth between the ages of 18 and 24. One-fifth of the young adults that check into YOF disclose that they have exchanged sex for money, drugs, or a place to stay, says Ayala Livny, YOF program manager. 

“What we know is that young people do what they need to do to survive, and part of surviving is having a safe place to sleep. If we can provide a safe place to sleep, hopefully they will be less likely to engage in behaviors such as survival sex that compromise their health and safety,” Livny says.

However, connecting youth like Travis to a safe bed is easier said than done. 

General population shelters can be dangerous places for young adults. Young lesbian, gay, bisexual, or transgender people experience special challenges around victimization and violence, Livny says.

Travis tried staying at a shelter geared toward young adults. As a gay young man, he specifically sought out a center that had a reputation for being welcoming to young LGBT individuals.

 Once there however, he says was repeatedly the victim of homophobic slurs by both clients and staff members. He witnessed altercations between shelter residents that had begun with similar slurs before they escalated to violence, he says.

Fearing for his own safety, he opted to take his chances on the streets. On a good night, he slept on someone’s couch. More often, he slept outside on benches or in a tent on the beach.

Travis’s experience is all too common, says Jessica Flaherty, program director for the Boston Alliance for Gay, Lesbian Bisexual and Transgender Youth (BAGLY).

The use of homophobic slurs in a shelter raises alarm bells to homeless LGBT people. It signifies a culture in which in tolerance is the norm and warns that violence may follow.

“The history of their lives has taught them that they can expect to be beaten by somebody that calls them a faggot,” Flaherty said.

Comparatively, going home with someone, “tricking,” or doing sex work for a place to stay can seem like a safer option.

Of course, sex work comes with its own risks.

While Travis was able to set a few boundaries for himself, such as not traveling outside the Boston area and not working with men over 60, he quickly learned that he was at the mercy of the men who hired him.

He had no say in setting the pricing for his services. Sometimes he would make $200 or more. Other times he would make next to nothing. He had been warned that turning down an offer because of the price could get him blacklisted by the network.

Some clients scoffed at his request to use a condom, and he usually gave in for fear of developing a bad reputation within the network. 

Every three months, he headed to the doctor’s office and anxiously waited for the results of sexually transmitted disease and infection tests. Miraculously, he remained healthy. 

“I am a very, very, very, lucky person,” he said gravely.

Flaherty says that she frequently hears from individuals engaging in sex work that clients offer a higher price to have sex without a condom.

Both Flaherty and Livny say that the majority of the young people that they work with are well aware of the potential risks of contracting both short-term and chronic infections and diseases, including HIV.

 “People are making choices, and they are informed choices, but if you are starving and need a place to stay, you are definitely going to choose the option that better meets your immediate needs. People are going to make the choices that are going to keep them alive for the night and worry about the rest of their lives later,” Flaherty said.

 Staff members at Youth On Fire, BAGLY, and a handful of other area organizations try to help individuals in this situation to reduce this risk.

“At intake we ask directly, ‘Have you ever exchanged sex for drugs, for money, or for a place to stay?’ We ask it, we hope, in ways that are open and non-judgmental so that they can begin having these honest conversations without fear of being judged or denied services,” Livny said.

Livny has found that the young adults that come to YOF are eager to talk about their situation when given the opportunity. 

Staff members talk with them about ways to reduce their level of risk by making sure they have access to condoms and lubricant. They connect them to doctors at Fenway Health for testing for STIs and inform them about new prophylactic treatments that are available for both pre and post-exposure.

“We also know that most folks that are engaging in survival sex are often using substances to cope with the emotional ramifications, so we talk about the dangers of sharing needles and the risk for overdose,” Livny said.

All of YOF staff members are trained in risk reduction and substance abuse. In addition, a clinician comes into the center twice a week and welcomes kids in need of a supportive ear or specialized counseling on a walk-in basis.

While BAGLY and YOF cannot solve all these kids’ problems, they help meet their immediate needs, refer them to agencies that can help connect them to more permanent services, and advocate for them at the local and state level.

Travis first turned to Youth On Fire during his last days in his apartment for food assistance. For four years, YOF has been a consistent place where he can take a shower, eat a hot meal, wash his clothes, and breathe freely. 

This month, Travis moved into an apartment with the help of a friend, but he still heads to Youth On Fire each day.

“The staff at Youth on Fire is like having a family who cares about me and will help me like a family should care about you,” Travis said.

How to talk about obesity and weight loss with your teen

In Healthcare on June 25, 2013 at 8:25 pm

This article was first appeared as a guest post for The Christian Science Monitor blog Modern Parenthood.

Photo Credit: Peggy Greb, US Department of Agriculture

Photo Credit: Peggy Greb, US Department of Agriculture

Wondering how to talk to your teen about weight? Tread carefully, suggests a new study from the University of Minnesota published this week in the medical journal “Pediatrics.”

Talking about weight loss and obesity might do more harm than good, the researchers found.

A survey of more than 2,000 adolescents and their parents revealed that while discussions of healthy eating and lifestyle can promote healthy choices, talking about it in terms of weight loss and obesity can drive kids to try dangerous methods of weight control, including diet pills, laxatives, fasting, and purging.

Adolescence is marked by intense peer pressure, and can involve anxiety over self-image and emotional extremes. As tough and independent as teens may insist they are, their self-esteem can be fragile. Many endure bullying from peers about their weight. All are bombarded by an onslaught of images depicting the “perfect body” in magazines, billboards, advertisements, and on television. If parents jump into the fray with even gentle cajoling about their waistline, or nagging about their weight, they run the risk of pushing teens to explore extreme methods of weight control.

That does not mean that parents should avoid the subject entirely. With teen obesity rates at 18 percent, nearly three times the rates seen 30 years ago, promoting healthy eating may be more important now than ever.

The good news is that opening up the dialogue with teens about healthy eating practices can have a positive impact “regardless of the size of your adolescent,” says study author Jerica Berge, a professor of family and community medicine at the University of Minnesota Medical School.

So how can parents spark conversations about healthy eating without pushing kids to a dangerous extreme?

“The more positive the message the better,” Ms. Berge says.

As every parent knows, very few things are more enticing to teenagers than the things they have been told to avoid. Instead of focusing on what they shouldnot be eating, parents can talk about how fruits and vegetables will make their teens strong and healthy.

There are many advertising campaigns out there promoting foods that can lead to weight gain. The more messages teens receive from adults in their life promoting healthier foods, the better, Berge says. The study found that for teens living in two-parent families, hearing about healthy eating from both parents had a more positive impact than in families where one parent remained silent on the issue.

Parents can turn to pediatricians for additional support in having these conversations. While health care providers probably already are tuned into this issue and most often include discussion of weight and body mass index (BMI) as a routine part of office visits, Berge says that calling pediatricians before the appointment and mentioning that they would like some help discussing healthy eating could be helpful.

Regardless of when parents bring up the topic, Berge emphasizes that parents frame the discussion in as positive a way as possible.

Getting to the Guts of Autism

In Healthcare on May 6, 2013 at 7:42 pm

This article first was published by the online arm of Delaware’s NPR News Station, on April 29, 2013.

autismTo roughly two million Americans struggling with autism, chronic stomach problems have long been just another side effect. Now, it looks like the issues in their guts could actually be aggravating—or even triggering—their symptoms of autism.

A new arm of autism research has begun to explore the possibility that problems in the gut microbiome—an entire ecosystem of bacteria residing within the digestive tract that is responsible for extracting energy from food—could actually play a role in exacerbating or even causing behaviors and symptoms associated with autism.

While researchers from a variety of disciplines around the world are turning their attention to the stomach, University of Delaware Professor of Chemical and Biomolecular Engineering Prasad Dhurjati is helping to put their work into context.

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Busy parents struggle to promote active lifestyle at home

In Healthcare on March 22, 2013 at 2:46 pm

This article first was published by, the online arm of Delaware’s NPR News Station, on March 22, 2013.

Photo credit: Kristen Wall, KWDesigns

Photo credit: Kristen Wall, KWDesigns

Not so long ago, the hours between the ringing of the last school bell and the flickering of the first streetlight were filled with peals of laughter and children’s shouts. Kids careened around the block with playing cards humming in the spokes of bicycle tires, claimed driveways for pickup games of basketball, and otherwise ran themselves ragged.

Today, many suburban neighborhoods remain quiet from 3 to 6 pm, as more kids have retreated indoors.

Whether lured inside by the Internet and video games, or told to stay inside while parents are at work, many kids today are no longer getting much exercise during these late afternoon hours. At the same time, many schools have reduced physical education requirements and scaled back recess time.

Most parents believe physical activity is an important component of their children’s health, and a significant number worry that their children are not getting enough exercise.

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Utah Plays Key Role in Autism Genetics Research

In Healthcare on March 6, 2013 at 11:14 am

A version of this story entitled Families Dealing with Autism Navigate the Unknown was first published by on January 17, 2013.

Photo Credit: Heather Cannon

Photo Credit: Heather Cannon

Heather Cannon of Murray, Utah, has three boys on the autism spectrum. Her eight-year-old son Neil started showing signs of extreme distress at just one month old. During his first Christmas, she recalls him shrieking as if in pain at the sound of family members unwrapping presents. He still has difficulty coping with sensory stimulation, becomes easily distracted and overwhelmed by loud noises, strong odors, and scratchy tags in clothing.

Today, Cannon describes Neil as “twice exceptional,” a term referring to children who are intellectually gifted and suffer from a disability. He learned the alphabet by 18 months, could differentiate between Mozart and Vivaldi at two years old, and was reading by three.

At five-years-old, Neil was officially diagnosed with Asperger Syndrome, a designation of a higher functioning autism spectrum disorder that has been used in recent decades but will be soon folded under the umbrella diagnosis of autism. By the time Neil was diagnosed, Cannon’s twin boys, Evan and Dylan, now six, were toddlers and displaying symptoms of their own. Soon, a young adult cousin confided that he also had Asperger Syndrome and Cannon began to suspect that other members of her extended family might also be on the spectrum.

As the incidence of autism spectrum disorders has skyrocketed in the past decade, researchers have turned to potentially high-risk families like Cannon’s in hopes of linking genetic factors to autism.

The Center for Disease Control and Prevention estimates that the number of children diagnosed with Autism Spectrum Disorders (ASD) has increased by 78 percent since 2007.

In Utah, the findings are even more staggering. CDC estimates indicate that ASD occurs at a rate of 1 in 47 in Utah compared to the rate of 1 in 88 seen nationwide.

Utah’s high prevalence rate, cultural emphasis on family history, and dedicated research facilities make the state an ideal place to explore autism genetics research.

Bill McMahon, Director of the University of Utah Department of Psychiatry, has studied autism in Utah for more than 25 years. He says that while he has also seen a dramatic increase in the number of children and adults presenting with autism symptoms in recent decades, he cautions that the latest Utah numbers from the CDC come from a small sample size with a broad margin of error.

He adds that some of the increase can likely be attributed to broadened diagnostic criteria, which now include a wide spectrum of disorders and an increased incentive to diagnose early with the discovery of successful early intervention treatments.

However, he suspects that genetic and environmental factors may also be contributing to the increase in prevalence.

“We are looking as hard as we can look for potential genetic and environmental factors that may contribute to it,” says McMahon, “We have collected the world’s biggest pedigrees, [lineage charts that include genetic relationships and medical histories,] with numbers of people with autism in them.”

Utah has long been a major repository for genealogical information. Members of the Church of Latter Day Saints have catalogued their family trees since the days of the Mormon pioneers. In the 1970’s a University of Utah geneticist, cardiologist, and demographer began weaving information from the LDS Church, the Salt Lake City library, and statewide death and cancer records together into the Utah Population Database (UPDB) in hopes of beginning to understand the role of genetics in cancer development.

Today the database holds records of 7 million Utahns dating back to 1904. In some cases, the family history goes back 12 generations. UPDB is participating in 160 different research projects, including suicide, inflammatory bowel disease, longevity, obesity, heart disease, and autism.

However, because autism is a relatively new diagnosis, tracing back to historical occurrences is not as simple as checking hospital records.

When one Utah mother, Carmen Pingree learned her son was autistic in the early 1980’s, she started talking with her family and just like Cannon, soon realized that autism-like symptoms had occurred several times in her father’s mother’s family line, though only her son and nephew had received a diagnosis.

She began to wonder if autism could be hereditary, but realized that the data to study that didn’t exist. “You could go back and say, ‘My aunt had cancer,’ but you couldn’t do that with autism,” Pingree said.  The family could speculate but adult members of the family had never been assessed for autism.

With cooperation from the department of social services, the special education programs in the public schools, and residential programs, Pingree tracked down 400 individuals who exhibited autism-like symptoms and were willing to submit to comprehensive testing at the university. Then she poured through family histories scrawling names on index cards and paper clipping families together.

Today, researchers are still using those pedigrees to try to identify the causes of autism. Hilary Coon, also a professor of psychiatry at the University of Utah is now working to confirm and expand them. She is matching them to data from the UPDB and hopes that having such extensive records can help identify genetic factors involved in disease.

“If you get a family that looks like it has a high occurrence of some disorder and they share DNA, then it’s possible that there is a genetic mutation that leads to susceptibility that they are sharing,” Coon said.

However, the genetics of autism promises to be complex.

While dozens of chromosomal mutations have been linked to autism, no single duplication or deletion explains all cases of a particular symptom or even manifests the same way in all individuals, Coon says. For instance, duplications in chromosomes 15 and 16 have been connected to autism, however Coon has not found any evidence of those particular mutations in the Utah pedigrees.

Hundreds of genetic factors likely contribute to autism susceptibility, and even among related individuals, there can be completely different genetic mutations causing similar symptoms, says Coon.

Coon speculates that symptoms could be the result of multiple genetic factors working together. For instance, a genetic marker appearing to indicate a predisposition might need an additional catalyst, perhaps an exposure to an illness in utero or in infancy, to produce symptoms.

Coon hopes that expanding the autism pedigrees to include medical history information gathered from the population database and additional surveys might help to reveal how risk factors influence and compound each other. Some of the questions Coon and her colleagues are asking are whether there are differences in the way neurons of autism patients’ function, if their immune response is different somehow, or if affected individuals or mothers were exposed to specific environmental events. However, answering these questions will likely take years if not decades.

That’s of little consolation to families like the Cannons dealing with autism everyday.

The biggest challenge both for families and researchers trying to understand autism seems to be that autism manifests differently in different people and can affect each individual in multiple ways.

That is certainly the case for Cannon’s three boys. Compared to Neil’s screaming and aggressive behavior, the twin’s seemed to be developing on target, she says. In time, it became clear however, that Dylan’s head banging and obsessive conversation rituals and Evan’s insatiable need for physical stimulation were also symptoms of autism.

“Our kids are impacted in so many different ways,” Cannon said. “People think of [autism] in terms of a mental issue, but it’s systemic, affecting gastrointestinal systems, vision, social skills, and behavior. Now my oldest may have Ehlers-Danlos syndrome, [a connective tissue disorder that frequently co-occurs with autism,]” Cannon said.

Autism is often associated with hampered social skills. Individuals on the autism spectrum struggle to develop social skills that others take for granted. Things like making eye contact, interpreting body language, and navigating the flow of conversation do not come intuitively to many people on the spectrum. However, individuals on the spectrum frequently suffer from a myriad of physical symptoms as well.

Nearly half of children diagnosed with autism disorders also suffer from digestive problems, which can affect behavior, ability to focus, and sleep patterns. For kids like Neil, that are extremely sensitive to touch and physical sensations, abdominal pain can lead to outbursts. Cannon says that she and her husband have learned over the years, that if Neil starts to become aggressive it’s likely because his stomach hurts.

Many individuals on the autism spectrum suffer from additional disorders, such as Ehlers-Danlos syndrome, that further complicate their symptoms and ability to function.

Another approach some scientists are taking is to develop diagnostic tests to identify disorders that seem to occur frequently among individuals on the spectrum as well as additional genetic risk factors.

Michael Paul, President and CEO of Utah-based diagnostics company Lineagen, says his company has been able to use genetic research derived from the University of Utah and other autism research facilities to help families pinpoint additional disorders that might be complicating symptoms relating to autism.

Paul says that the test is indicated for children who already have a diagnosis of autism and can be taken in the child’s doctor’s office with a simple swab inside the cheek. A partner laboratory extracts the DNA which scientists at Lineagen test with a chromosomal microarray, a silicon chip covered in millions of strands of synthetically produced DNA. The patient’s DNA bonds with those strands and attracts varying shades of fluorescent tags. A powerful laser senses those tags, which are used to construct a map of the genome. Scientists analyze these maps and interpret the results for families.

The hope is that those results can help families address symptoms better, says Lineagen senior manager Chuck Hensel. One of the first patients to receive the test turned out to have an additional disorder separate from the autism diagnosis, known as Angelman Syndrome, a neuro-genetic disorder affecting development, speech, balance, and intellectual capacity, Hensel says. The child had been participating in speech therapy for a long time, as is indicated for autistic children struggling with communication, but showed little progress, as is typical of children with Angelman Syndrome, he explained.

“Children with Angelman Syndrome rarely learn to speak,” Hensel said. “Rather than spending all that time and money for that child to be in speech therapy, the family could focus about alternative communication therapies.” Paul says that mother later called him up in tears, thanking Lineagen for changing her life.

However, not all findings are as definitive, Paul says. “We do see markers for which the clinical knowledge isn’t as well developed as others.” Genetic counselors help families to put results into this context.

Lineagen scientist Karen Ho explains that she and her colleagues monitor new genetic research constantly and inform the patients’ clinicians as studies come out that might shed light on markers identified during testing. For instance, scientists recently linked a previously unexplained chromosomal deletion to a four-fold increased risk for glaucoma. “We were able to contact those patients’ doctors and suggest that their eye health be monitored closely,” Ho said.

Paul, Hensel, and Ho all emphasize that the overall information available is still quite preliminary and Lineagen does not aim to diagnose autism. “We are not in the business of predicting, we are in the business of explaining,” Hensel said.

Other researchers and companies are working develop diagnostic tests for autism. Researchers at Children’s Hospital Boston just published a study in the journal PLOS ONE detailing a diagnostic test for autism. Study authors told Time Magazine that the test currently has an accuracy rate of 70%, but still produces too many false positives. Massachusetts-based diagnostic company SynapDx plans to begin clinical trials using the test early in 2013.

In Utah, Coon and McMahon will continue to forge ahead analyzing the Utah pedigrees. Scientists at Lineagen will look for ways to use that information to help families. Families like the Cannons will take one day at a time.

New Autism Insurance Law Offers Some Financial Relief

In Healthcare on December 11, 2012 at 4:40 pm

This article first was published by on December 11, 2012.

autismMany Delaware parents of children with autism have been drowning in medical bills as they struggle to pay out-of-pocket for services not covered by their health insurance. Delaware’s new autism insurance law, which goes into effect today, promises to ease the burden for some but will likely not cover everyone.

While most second graders worry about fractions, vocabulary words, and cooties, Gabe Otinsky of Middletown, Del. spent second grade repeatedly getting suspended from school and dreaming nightly that his father was dying. When he started telling his parents that he would rather be dead than alive, they decided to pull him out of public school and educate him at home.

In many ways, Gabe is a lot like his peers. He loves playing video games, building with Legos, and playing the guitar.

But he is also autistic and has difficulty processing sensory input. That means that things like flushing toilets, hairdryers, and scratchy clothes, which would be minor distractions to most kids, are extremely upsetting for Gabe, explains his mother Kathleen Otinsky.

Today, Gabe is ten-years-old, the nightmares have stopped, and he has been able to focus on his schoolwork away from the distractions of the classroom.

“School was just too noisy and too bright for him to be able to sit still and that whole social aspect was really making him uncomfortable,” Otinsky said.

Otinsky would like to enroll Gabe in both sensory integration therapy, to help him learn to cope with overstimulation, and social skills therapy, so he can develop skills to interact with peers. However, she says the family’s health insurance does not cover therapies related to autism. She and her husband Howie have had to choose between the two, focusing on whichever seemed to be more immediately needed at the time.

The financial struggle to pay for autism related services is a familiar one for many families in Delaware and around the country.

In recent years, the number of children receiving autism spectrum diagnoses has exploded reaching a rate of 1 in 88 children nationwide, according to estimates from the Center for Disease Control and Prevention.

Nearly nearly 1000 public school children in Delaware have been classified as having autism by the Department of Education. However, that figure only counts children that qualify for educational accommodations and does not include higher functioning children that are able to manage on their own in school, but still need additional services.

Currently, there is no statewide data for the number of children with a medical diagnosis for autism. Like the Otinskys, many of those families struggle to pay for services not covered by health insurance. 

Thanks to a new law in Delaware known as the Autism Insurance Reform law, many families will now be able to bill their insurance companies for autism services for the first time.

The law, which the governor signed in August, requires that all state-regulated insurance companies insert coverage for screening, diagnosis, and treatment relating to autism into every policy issued or renewed after the law goes into effect today.

It is important to note that the new coverage will not go into effect for each family until their next individual renewal date, says Kim Siegel, policy director for Autism Delaware, a statewide advocacy organization that provides referrals, connects mentors, and offers education to Delaware families dealing with autism.

Delaware is the 32nd state to pass autism insurance reform. Indiana passed the first of such laws in 2001 and many states have followed suit in the past five years.

Legislative sponsors from both sides of the aisle introduced the bill to the legislature, where it passed without any opposition.

Rep. S. Quinton Johnson (D-Middletown) cosponsored the bill with retired Sen. Liane Sorenson (R-Hockessin).

Johnson has a child with a different disability and wrote in an email interview that he chose to sponsor the bill because he knows how challenging it can be to find the right services, even without having to worry about how to pay for it.

“Imagine the feeling a parent would have knowing that there is a proven therapy that could significantly help their child and they can’t get that therapy for their child because they cannot afford it,” Johnson wrote.

Later he added that he hopes that this law will allow for earlier access to therapy and ultimately reduce the amount of support that individuals with autism need in their adult lives.

However, as Kathleen Otinsky recently learned, the law will not necessarily extend coverage to all families in Delaware.

After helping to lobby for the bill and celebrating its passage earlier this year, Otinsky learned just last week that the new law might not apply to her family.

Only health insurance plans that are bought and sold within the state of Delaware are subject to state regulation and the new law. Otinsky’s husband Howie manages a power plant owned by a large multistate corporation. Many multistate corporations and unions opt to “self-insure” employees rather than manage separate policies in different states that each have their own regulations. They may hire a health insurance company to process the paperwork, but do not actually purchase health insurance. The federal government regulates those plans under the Employee Retirement Income Security Act of 1974 (ERISA). Federal employee insurance plans also fall under these regulations.

Currently, no federal mandate specifically addresses autism coverage. However, two of the ten essential health benefits outlined by the Affordable Care Act, behavioral health treatments and debilitative care, could be interpreted to include autism related care, says Judith Ursitti, director of state government affairs for Autism Speaks, the nation’s largest autism advocacy organization.

Recently, Autism Speaks has been lobbying the federal Department of Health and Human Services to add language to clearly define those sections with reference to autism treatment.

In the meantime, Ursitti says that some ERISA plans have voluntarily started to cover treatments relating to autism.

“One of our big efforts after we pass a law in a state, [is to then] focus on a lot of self funded companies that are based in that state. Right now, we’ve seen about 30% of self-funded companies start provide coverage for Applied Behavioral Analysis (ABA) therapy and other autism related treatment,” Ursitti said.

That could be good news for the Otinskys if their provider opts to add coverage on its own, but for now Gabe’s access to therapies remains uncertain.