Tag Archives: autism

Studying autism in girls may help reveal the disorder’s secrets

Think autism and an image of an awkward boy typically emerges, but the way autism strikes girls — or doesn’t — may help reveal some of the developmental disorder’s frustrating secrets.

Autism is at least four times more common in boys, but scientists taking a closer look are finding some gender-based surprises: Many girls with autism have social skills that can mask the condition. And some girls do not show symptoms of autism even when they have the same genetic mutations seen in boys with the condition.

“Autism may not be the same thing in boys and girls,” said Kevin Pelphrey, an autism researcher at George Washington University.

The causes of autism aren’t known. Genetic mutations are thought to play a role, and outside factors including older parents and premature birth also may be factors. But the gender effect is now a hot topic in autism research and one that could lead to new ways of diagnosing and treating a condition that affects at least 1 in 68 U.S. children.



Brain imaging suggests there may be an additional explanation for why many girls with autism have more subtle symptoms than boys, Pelphrey said. Even in girls who clearly have autism, he said, brain regions involved in social behavior that are normally affected are less severely impaired.

Also, recent studies on autism-linked genes have found that girls can have the same kinds of genetic mutations seen in boys with autism, but not show symptoms. They “even need to have twice as many mutations on average to actually manifest with autism,” said Joseph Buxbaum, director of an autism center at Mount Sinai medical school in New York.

He is among researchers trying to identify a “protective factor” that may explain how some girls at genetic risk remain unaffected — perhaps a protein or other biological marker that could be turned into a drug or other therapy to treat or even prevent autism.

That possibility is likely a long way off, but Pelphrey said this line of research has prompted excitement among autism scientists.



Buxbaum is involved in the Autism Sisters Project, which is seeking to enroll hundreds of families with autistic sons but unaffected daughters. The project began last year with the goal of building a big database that scientists can use to look for genetic clues and protective factors. Girls and their families visit the New York lab to give saliva samples for DNA analysis and efforts are underway to expand DNA collection to other sites.

Evee Bak, 15, hopes her samples will eventually benefit her older brother Tommy. The suburban Philadelphia siblings are just a year apart. They play in a garage band — Evee on drums, Tommy on guitar and vocals. He’s a masterful musician, but has trouble reading social cues and doing things that come easy to other teens, like shopping alone or using public transportation.

Her focus is “taking care of Tommy and making sure he’s happy and healthy,” Evee said.

Tommy was diagnosed at age 3, after he stopped using words he’d learned months earlier and showed unusual behavior including repetitively lining up toys instead of playing with them.

“He’s a wonderful person and I don’t think that we’d ever want to change him,” said his mother, Erin Lopes. But they’d welcome anything that could help him function as independently as possible “because I think that’s what he really wants, is to be independent.”



Autism is diagnosed by observing behavior, there’s no blood test for it. Some experts say gender-based differences highlight a need to develop different ways to evaluate boys and girls.

Autism screening, recommended for kids starting at 18 months, uses tools based on research in autistic boys, said Rachel Loftin, clinical director of an autism center at Rush University Medical Center in Chicago.

One widely used screening questionnaire for parents includes questions like “Does your child play make-believe, make eye contact, seek praise, show interest in other children?” Girls with autism, especially mild cases, often don’t show obvious problems in those categories _ they’re more likely than affected boys to play pretend with toys rather than lining them up by size or shape. Loftin said they’re also more likely to show concern for another person’s feelings.

Government data show that all forms of autism, mild to severe, are more common in boys and that the average age at diagnosis is 4 years in boys and girls. But Loftin said anecdotal evidence suggests a two-year lag time in diagnosis for girls, especially those with mild cases. And she suspects many cases are missed or misdiagnosed. That means a delay in early intensive behavior therapy that is the main treatment for autism.

Some girls manage to camouflage symptoms until pressures to fit in at school become overwhelming, delaying diagnosis until around age 8 or 9, said Alycia Halladay, chief science officer at the Autism Science Foundation, a nonprofit educational and research-funding group which is paying for the Sisters Project.

The prominent autism advocate, professor and author Temple Grandin wasn’t fully verbal until age 4.ß “It was obvious something was drastically wrong with me,” Grandin said. But she said she learned to adapt, in part because with “1950’s parenting” she was faced with intense encouragement to develop social skills and other talents.



Allison Klein worried about her daughter, Jillian, for three years before the little girl was finally diagnosed with mild autism. Jillian couldn’t tolerate loud noises, she grew withdrawn around her preschool classmates and she lagged behind academically. She was labeled anxious, not autistic.

“She didn’t meet the stereotypical behaviors of no eye contact, no communication, hand flapping,” Klein said. Teachers and doctors suggested she was just shy and would grow out of it.

A few months ago, just before Jillian turned 6, Loftin confirmed Klein’s concerns.

Even Pelphrey, the autism researcher, had a similar experience. His daughter, Frances, was diagnosed almost four years after her behavior raised concerns. She didn’t walk or talk until she was almost 3 years old. She tried to be “cuddly” and interact with others, but sometimes she did so awkwardly.

“Nobody really wanted to make the call,” Pelphrey said. “Had she been a boy, there would have been much more pressure to look into it.”


On the Web

CDC & Autism: http://tinyurl.com/zarznp2

Clinton outlines plan for addressing autism, expanding screening

U.S. Democratic presidential candidate Hillary Clinton on Jan. 5 outlined her plan for dealing with autism, which affects millions of Americans and their families, calling for nationwide screening and a ban on the use of physical restraints in schools.

The plan also calls for working with states to ensure that private health insurers cover treatment of the disorder, her campaign said.

“I want to help families do the work that they’re already doing but which is so difficult” in taking care of family members, Clinton said at a campaign stop in Sioux City, Iowa.

“A lot of those families are just at their wits’ end” finding services and figuring out how to pay for them, including as autistic children grow into independent, employed adults, she added.

Autism affects more than 3.5 million Americans, according to the Autism Society, an advocacy group.

The former U.S. senator’s plan comes on the heels of her proposal for dealing with Alzheimer’s disease, the most common form of dementia.

Clinton has made helping the middle class a centerpiece of her campaign, and the health initiatives could help family caregivers, who can feel particularly stretched for time and resources.

In addition to a nationwide campaign to screen children for autism, Clinton would establish public-private partnerships to help autistic children move from school-based services to more independent lives, including employment opportunities.

Ari Ne’eman, president of the Autistic Self Advocacy Network — an organization run by and for autistic adults — raised Clinton’s plan on a conference call organized by the campaign, including supporting people with the disorder as they lead their lives.

Autism, formally known as autism spectrum disorder, has become increasingly common in the United States, with the Centers for Disease Control and Prevention documenting a rise in its prevalence from about one in 150 children in 2000 to about one in 68 children in 2010.

However, some experts caution that the apparent rise could come as parents and doctors grow more aware about diagnosing the disorder.

While certain risk factors are known, including some chromosomal and genetic conditions, the exact causes of autism remain unknown.

Clinton has support from 57 percent of her party, compared with 31 percent support for her main rival, U.S. Senator Bernie Sanders of Vermont, in a five-day rolling poll from Reuters/Ipsos dated Dec. 29. Former Maryland Governor Martin O’Malley is also running for the nomination.

New ‘Phantom’ amps up the beloved musical

In this production, the Paris opera house is more realistic and less dramatically lit. The phantom is more man than myth — and with a personality that lies somewhere on the autism spectrum. At the end of Act 1, the chandelier does more than just jingle and sway.

Those changes — and more — make the current touring production of Andrew Lloyd Webber’s The Phantom of the Opera a fresh lens through which to experience the familiar story and beloved music. The enhanced Phantom visits Milwaukee’s Marcus Center for the Performing Arts July 25–Aug. 3. 

Produced by Cameron Mackintosh, who also produced the original production, the new version appeals to new audiences and die-hard fans, according to Seth Sklar-Heyn, who’s served as associate director under Mackintosh for multiple productions of the musical.

“Cameron has been quick to point out that this new production couldn’t exist without the original, and it’s not that it’s better — just different,” says Sklar-Heyn. “It also may be the only show that has a reimagined version on tour while the original is still playing on Broadway.”

Lloyd Webber’s stunning score still drives the production, but technological advancements since the original show opened in 1986 have enabled producers to upgrade many aspects of the show. New lighting cues, pyrotechnics and other forms of theatrical magic are threaded throughout the familiar narrative. The show has been anything but reduced for easy travel, Sklar-Heyn says.

“People wonder if we have minimized the show, but we’re still touring with 20 trucks and making significant demands of the theaters in which we play,” he says.

Some of the most important changes involve director Laurence Connor’s interpretation of the mysterious character who haunts the opera and his pathological obsession with Christine, the young coloratura he maniacally mentors. When Raoul, Christine’s childhood friend, reemerges in her life as an ardent suitor, the stage is set for intrigue and heartbreak.

This plot plays out in a subtly different way in the new version, Sklar-Heyn says.

“Christine is onstage throughout the production, and Laurence will maintain that it is less the Phantom’s and more Christine’s story,” says Sklar-Heyn.

The Phantom originally was presented as Svengali-like in his ability to spellbind Christine. He’s a disappointed hero in pursuit of something he feels is rightfully his.

But in the new production, he’s a more nuanced character. Going back to the musical’s source material, Gaston Leroux’s 1910 novel of the same name, Connor envisions the Phantom as a man cursed from birth by physical deformity. He is musically brilliant, but obsessed with musical perfection to an extent that would qualify as Asperger’s syndrome.

“Laurence has referred to the Phantom as being on the autism spectrum in his discussions — absolutely brilliant in his powers but unable to handle the world in a normal way,” says Sklar-Heyn. “We tried to portray him as more human and his personality as a unique way of coping with the world.”

The iconic chandelier still plays a prominent role in the new production. But new technology has given this prop a greater presence.

“We’ve given the chandelier a little more to do, and (we) can adjust the level of (its) performance based on the capabilities of the performance venue,” Sklar-Heyn explains. “In this production it’s more than just a place for a laughing Phantom to hide.”

By maintaining the intrinsic qualities of the show while amping up the theatrics, the new Phantom of the Opera provides fans a more dazzling experience, Sklar-Heyn believes. “What I like most about Phantom is that I can come in as an audience member and become immersed in the sheer spectacle of the production,” he says. “There is something visceral in the size and scope of the show that really turns me on.”

But the intimate connection he’s always felt with the Phantom is undiminished.

“As to the man, I like anyone who gets lost in himself,” Sklar-Heyn says. “The Phantom exists as himself at certain moments, but also as the construction of what other people want from him. And I can absolutely relate to that component of his character. In fact, I think a lot of us can relate to that.”


The new production of Andrew Lloyd Webber’s The Phantom of the Opera runs July 25–Aug. 3 at Milwaukee’s Marcus Center for the Performing Arts, 929 N. Water St. For more information and tickets, phone 414-273-7121 or go to www.marcuscenter.org/show/the-phantom-of-the-opera. 

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New year, new laws in the states

As 2013 begins, many states are enacting new laws dealing with gay rights, child safety, abortion, immigration and other perennial concerns.

Some other topics states are dealing with in new laws:


Pennsylvania will prohibit use of carbon monoxide chambers to destroy animals at shelters and will make it easier for shelters to get drugs for a more humane method. Activists say animals are often old, young, sick or hurt and not good candidates for gas chamber euthanasia. Some provisions are about to take effect, while others will be in place later in 2013.


Alaska becomes the 31st state to require insurance coverage for autism, with a law mandating coverage for the diagnosis, testing and treatment of autism spectrum disorders for children and young adults. Illinois, which previously approved autism insurance coverage, now also will require insurance companies to cover medical services related to autism.


Washington state is requiring manufacturers of brake pads to phase out the use of copper and other heavy metals as a way to prevent the metal from polluting waters and harming salmon. When brakes wear down, they release copper shavings onto roads that eventually wash into rivers. The first phase of the law takes effect Jan. 1, when manufacturers of friction brakes will be required to report the concentrations of heavy metals in their products.


New Mexico will allow more frequent refills of prescription eye drops, such as those used by glaucoma patients. Under the law, insurance companies could not deny coverage for a refill requested by a patient within a certain amount of time – for instance, within 23 days for someone with a prescription for a 30 day supply of the eye drops. Supporters of the measure say some patients find it difficult to control how many drops they put onto their eye, causing individuals to prematurely run out of medication before an insurer will pay for a refill.


California will start to hold party bus operators to the same standards as limousine drivers, making them legally responsible for drinking by underage passengers. The law is named for Brett Studebaker, a 19-year-old from San Mateo who died in 2010 after drinking on a party bus and crashing his own vehicle while driving home later.


California and Illinois are both making it illegal for employers to demand access to employees’ social media accounts. Illinois Gov. Pat Quinn signed the law in August at the Illinois Institute of Technology, where several students lamented that online snooping by bosses has caused some to lose out on jobs and forced others to temporarily deactivate their profiles. In September, California Gov. Jerry Brown said the legislation will protect residents from “unwarranted invasions.”


To raise money for its unemployment insurance fund, Georgia will start charging employers for the unemployment insurance tax on the first $9,500 in taxable wages earned by workers, an increase over the previous $8,500. The new law stretches forward the suspension of another unemployment insurance tax, though it allows the labor commissioner to impose it to help repay money borrowed from the federal government or if fund balances dip below $1 billion.