NYT: More Differences Than Similarities Are Found in Autistic Siblings

Most siblings with a diagnosis of autism do not share the same genetic risk factors for the disorder and are as distinct in their behaviors as any brothers and sisters, scientists reported on Monday in a study that came as a surprise to many doctors, if not to parents.

Scientists analyzed genetic material from 85 families, using a technology called whole-genome sequencing. Unlike other approaches, which illuminate a sample of a person’s genetic material, the whole-genome technique maps out the entire voluminous recipe, every biological typo, every misplaced comma or transposed letter. Each of the families had two children with a diagnosis of autism.

The researchers focused their analysis on about 100 genetic glitches linked to the development of autism. They found that about 30 percent of the 85 sibling pairs in the study shared the same mutation, and about 70 percent did not. The sibling pairs who shared a genetic glitch were more similar to each other, in their habits and social skills, than those pairs whose genetic risks were different, the study found.

The finding drives home the exasperating diversity of autism, even in the most closely related individuals. And it suggests that scientists will need to analyze tens of thousands of people, perhaps more, to tell any meaningful story about its biological basis.

Experts said the report, in the journal Nature Medicine, would most likely encourage changes in clinical practice. Some hospitals analyze the genetic profile of the eldest affected sibling to try to understand an infant, or to advise parents of the odds of having another child with the same disorder. That approach is not informative in most cases, the study authors said.

“This is very important work for people like me,” said Valerie South, an emergency nurse in Oakville, Ontario, outside Toronto. Her sons Cameron, 20, and Thomas, 14, have severe autism. In a family of four or more, the odds of having two children with autism is about one in 10,000. Continue reading NYT: More Differences Than Similarities Are Found in Autistic Siblings

LA Times: Autism genomes add to disorder’s mystery

Less than a third of siblings with autism shared the same DNA mutations in genes associated with the disorder, according to a new study that is the largest whole-genome sequencing for autism to date.

Canadian researchers sequenced whole genomes from 170 siblings with autism spectrum disorder and both their parents. They found that these sibling pairs shared the same autism-relevant gene variations only about 31% of the time, according to the study published online Monday in the journal Nature Medicine.

More than a third of the mutations believed to be relevant to autism arose in a seemingly random way, the study also found.

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NPR: Museum Opens Doors, Turns Down Lights For Autistic Kids

On a Saturday at the Pacific Science Center in Seattle, Wash., life-size robotic dinosaurs roar. A giant video monitor shows a person sneezing as a spray of mist shoots down from the ceiling. Nearby, naked mole rats scurry blindly through a maze of tunnels.

And since it’s all mud and rain outside, the place is packed with curious children and adults trying to keep up with them.

Loud noises, bright lights, crowded spaces: This is exactly the situation Mike Hiner tries to avoid with his 20-year-old son Steven, who is autistic.

He’s one of the many children and young adults in the Northwest who have some form of autism spectrum disorder, or ASD: In the Seattle School District, 10 percent of the special education population has ASD, and in nearby Bellevue, that figure is 17 percent. And because overstimulation can be painful for children with autism, many parents with autistic children avoid crowded, sensation-filled situations altogether — which can mean missing out on fun outings.

But some museums, including the Pacific Science Center, are recognizing the problem, and toning down the sights and sounds. One Saturday each month, the museum opens up early for families with ASD — like the Hiners, here before official hours begin.

“We’ve got the library, you know we have our usual routines that we do,” Mike Hiner says. “So it’s really nice coming here for a change. The butterfly exhibit kind of freaked him out, but that’s all right, we had fun.”

For two hours, the lights are dimmed, the loud noises are turned down and there is room to move around because it’s less crowded.

Mike Hiner says he wouldn’t have come here with his son during regular hours.

“We’re going to spend money to go see something and then you get there and you have to leave and it’s sometimes difficult,” he says. “So this is really nice.”

For families with kids with autism, maintaining the requisite quiet and calm can be limiting, and lead to feeling a little isolated. The Pacific Science Center’s Renee Gervais says the whole point of opening up early on these Saturdays is to offer more access.

“What we want is to be able to provide our programming, provide these experiences for children who may love them, who may be able to kind of run with them, who may become very inspired by that interaction,” she says.

Other museums and organizations across the country have similar programs, from the Smithsonian in Washington, D.C., to the Dallas Museum of Art. Even NASCAR holds events where autistic children go to the track to watch a live race from a quiet room.

Inside the butterfly house (the place Steven didn’t really like) unpredictable, electric blue and yellow flying insects land on tropical flowers for a quick snack. Eight-year-old Desmond Tsai takes it all in. Jeffrey Eckenroade, a docent, introduces Desmond to the heavy scent of gardenias and Jasmine.

“What does that flower smell like?” Eckenroade asks.

“Honey,” Desmond answers. “Honey like a honey-made toast.”

Desmond’s father, Gordon Tsai, says his son would never open up to a volunteer like this if it were loud and crowded.

“Clearly you can tell he’s interested and he has a lot of questions and it’s just an opportunity to ask them,” Gordon Tsai says. “Normally he wouldn’t even try to, but now he’s totally engaging with them, which is a side we rarely see.”

The two hours go by fast and 20-year-old Steven Hiner has had a great time. His sister Elizabeth helps him recap the highlights: the dinosaurs and the puzzles. “They’re good,” he says.

And with that, Steven hops onto his sister for a piggyback ride to go check out the planetarium.

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From failure to community: College dropouts find new direction in L’Arche

Note: This is the first story in a series titled Where are they now? Life after L’Arche, which features the impact L’Arche Greater Washington, D.C., had on former assistants’ careers, faith, relationships, and lifestyles.

It was Lent, and Michael Carlisle was depressed. His plan to study philosophy and become a professor of Catholic sacred theology had fizzled out three years earlier. He was holding steady with a maintenance job at Cabela’s, an outdoor sports equipment retailer, but he was struggling to care much about life.

It was Lent, and L’Arche Heartland in Overland Park, Kan., was full of life. When Michael arrived at prayer night there was joyful shouting and a lot of laughter. The community had decided to forgo their usual dinner and eat only rice and beans so they could be in solidarity with L’Arche in Argentina, sending the dollars they saved on their meal to support those who had less.

Michael was there at the invitation of Fred Kaffenberger, a friend he’d met through involvement in a Catholic lay group called Communion and Liberation.

Twenty-five years earlier, Fred was in a position similar to Michael’s. His lack of motivation for studying computer science landed him on academic probation, and eventually he dropped out of college completely.

“I realized I couldn’t get the discipline and skills I needed by myself,” Fred said. “I figured if someone else was dependent on me I could do it. I could learn.”

He wrote to three different organizations inquiring about volunteer work. L’Arche was the only one that wrote back. So, knowing nothing of L’Arche’s founder Jean Vanier and with no particular knowledge or interest in disability services, he set off to be part of the community in Washington, D.C.

The year was 1988, and L’Arche’s home on Ontario Road in Adams Morgan was just five years old. In December of that year, Fred became one of the founding members of Euclid House, along with Dottie Bockstiegel, Wendy Moore, Gene Sampson, Glenn Houser, and Barbara Palmer. *

Fred celebrated his 21st birthday in L’Arche, and the trajectory of his life quickly began to change. He read voraciously during his spare time, consuming the works of such authors as Walker Percy and Flannery O’Connor. He and his housemates volunteered at the Potter’s House, a coffee shop with a service and social justice bent. They worked, prayed, and played together.

Early in 1989, Fred and other assistants traveled to Quebec for a retreat with Jean Vanier where L’Arche’s founder impressed upon him the underlying spirit of the organization.

“I didn’t have a lot of emotional intelligence,” Fred confessed. “I learned a lot about how to be with other people.” This wasn’t always easy. His housemates Gene and Glenn had spent their childhoods and their adult lives prior to L’Arche in Forest Haven, an institution with a notorious reputation where they’d had to keep their wits sharp and look out for themselves. At times, the housemates’ rougher edges caused conflict. But it was authentic, and it got Fred out of bed each day.

Growing up, Fred’s family was part of the Christian Family Movement, a Catholic network focused on family relationships and living out their faith through action. It was a strong foundation, but reflecting back Fred muses that his faith was perhaps a bit rigid.

In L’Arche, he took a closer took at the Beatitudes, eight blessings recorded as part of Jesus’ Sermon on the Mount. He’s quick to admit that many of L’Arche’s lessons took a long time to sink in (or, in the case of chore skills that would make him a better husband, never really stuck); but in L’Arche his faith was softened and deepened.

“The Beatitudes stayed with me because faith is about the love that Christ has for us that makes us free and allows us to grow,” he said. “It isn’t so much about what I do for other people, or the accomplishments that I have, but remembering that gaze on me.

After a year in L’Arche, Fred was ready to take on college again. This time, he focused on English. He completed a bachelor’s degree, then a master’s, and then a certificate in teaching. Lessons from L’Arche stuck with him when he taught at an all-girls Catholic school in the South Bronx after graduate school and in every job he’s had since.

“When someone is doing something to me or is against me, it’s because they have a great wound,” Fred said.

Now, L’Arche is back in his life in a way he never expected.

In the spring of 2014, Fred and his wife, Karen, lost their home on a short sale. Plus, Fred was looking for a better job. To say the least, it was a challenging time for their family.

Fred had visited the fledgling L’Arche Heartland community once soon after leaving D.C., but hadn’t connected since. While looking for work Fred discovered that the community was accepting applications for assistants. He thought Michael might be a good fit.

It turned out Fred was right. Michael moved in to Mercy House, one of Heartland’s five homes, in June 2014. At first, Michael thought it would just be a better job than working retail. He now sees that it’s a whole life—“a really beautiful life”—that he can imagine living for several years or more.

“I’ve learned to really care about life again,” Michael said. “Living here has forced me to live outside of myself and to enjoy life, to see the value in it, in myself, and in the people around me.”

Fred and Karen now live in the L’Arche Heartland neighborhood and are being drawn in to the community through their friendship with Michael. Fred reflects that it’s taken him a long time to see the value of community and the value of people more than accomplishments.

“But you know,” he said, “If it weren’t for failure, a lot of good stuff would never have opened up like it has.”

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Disability Scoop: Self-Advocate Gets State Of The Union Invite

Sara Wolff fought hard to help others like her, so U.S. Sen. Bob Casey, D-Pa., offered her a special thanks.

He invited Wolff to sit in the U.S. House gallery next Tuesday to watch President Barack Obama deliver the State of the Union speech. Wolff helped Casey get a bill passed that helps those with disabilities.

“I was very surprised and excited at the same time,” Wolff, 31, of Moscow, Pa. said Monday. “This is my first time. I’m very excited. A little bit nervous, but very excited.”

The Achieving a Better Life Experience Act, ABLE Act for short, allows people with disabilities to save money in untaxed accounts similar to tax-advantaged accounts used by families who save for college. The act also allows Americans with disabilities to save money for education, housing, transportation and health care without losing eligibility for government programs.

The bill passed the House on Dec. 3 by a vote of 404-17. In the Senate, the provision was part of a larger tax bill that passed 76 to 16.

Obama signed the bill into law Dec. 19.

“I call it history in the making,” Wolff, who has Down syndrome, said. “It’s very important for people with disabilities, Down syndrome, autism, etc. Now, they can save money for their future.”

Casey said he wanted to honor Wolff because of her advocacy. She kept him focused on getting the bill passed with a catchphrase, “Stay pumped,” he said. Wolff testified for the bill at a Senate hearing in July.

“If she wasn’t the leading, she was one of the leading voices in the country for passage of the ABLE Act,” he said. “I wanted to acknowledge her contribution, which was substantial. She was a personal witness, which was very compelling.”

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Disability Scoop: Lawmakers Look To Improve Care For Kids With Complex Needs

Finding care for children with medically complex or rare conditions can force parents to tap into networks of highly specialized physicians and hospitals scattered around the country.

This is especially challenging when the children are covered by Medicaid, because each state-run program has a different benefit package, payment structure and provider network. Conflicting regulations and paperwork requirements can delay treatment and lead to unnecessary hospitalizations. Medicaid’s state-based rules also have thwarted efforts to develop a national clinical database researchers could use to find ways to improve the care of children with rare conditions.

A new bill in Congress would amend the 50-year-old Medicaid law to make it easier for health care providers in different states to coordinate the complicated care of these kids.

The proposal — the Advancing Care for Exceptional Kids Act — also calls for the creation of a national database of Medicaid claims data that researchers could use to study complicated conditions that affect one in 25 children nationwide. Continue reading Disability Scoop: Lawmakers Look To Improve Care For Kids With Complex Needs

The Tennessean: Last large state institution for disabled to close

The state has agreed to close a 40-year-old facility in east Tennessee for people with limited mental functioning, a move that advocates say marks a welcome end to an era of housing people with disabilities in large state-run asylums, often for the majority of their lives.

Under the plan, the Department of Intellectual and Developmental Disabilities will shutter Greene Valley Developmental Center in Greeneville by June 30, 2016, moving the remaining 96 residents into more home-like settings integrated into neighborhoods.

The plan to close Greene Valley is part of an overall agreement submitted in federal court last week. It would end a long-running lawsuit by advocates for people with disabilities, their parents and guardians, and the federal government against Tennessee over conditions in its institutions for people with intellectual disabilities, defined as possessing an IQ of 70 or less.

Those groups filed suit in 1995, after a Department of Justice investigation uncovered widespread abuses, including inadequate medical care, abusive treatment, failure to provide education and insufficient staffing at state institutions. The facilities have been under the federal court’s oversight since 1996.

A second large state-run institution, Clover Bottom Developmental Center, is scheduled to close this summer, five years behind schedule. About 20 residents still remain on that aging campus, which once housed 1,100, located near Hermitage in northeast Nashville.

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Disability Scoop: Athletes With Disabilities Eye College Competition

BERKELEY, Calif. — Growing up blind, the closest Ann Kwong came to a competitive sport, even in P.E., was a marshmallow-eating contest. Judith Lung never learned how to throw a ball.

“I never knew what it was like to block a ball and take one for the team,” said Kwong, a senior psychology major at the University of California, Berkeley.

Now she does. And it happens to be a nearly 3-pound rubber ball with bells inside that she can hear only as it comes bouncing and jingling toward her at as fast as 30 mph.

College sports teams are all but off-limits to those with disabilities, but UC Berkeley hopes to pry open the door with goalball, a bruising and sometimes bloody sport in which sightless players rely on sound, touch, communication and grit to hurl a sphere roughly the size of a basketball across an 18-meter court, past three opponents and into their goal.

Last fall, Cal became the first in the nation to establish a competitive collegiate goalball team, less than two years after teaching students, both blind and sighted, how to play.

Its advocates hope the coming years will lead to the kinds of inroads for those with disabilities that the Title IX anti-gender-discrimination law did for women — who, as late as the 1960s, were relegated to half-court basketball.

“I would argue that this is one of the civil rights issues of the 21st century,” said Derek Van Rheenen, goalball’s faculty sponsor, who directs UC Berkeley’s Cultural Studies of Sport in Education in the Graduate School of Education. Continue reading Disability Scoop: Athletes With Disabilities Eye College Competition

The Hill: For better brain health, reason to celebrate

As we kick off the new year, those of us working toward better brain health have something to celebrate. Tucked into the spending measure passed by Congress and signed by the president on Dec. 16 was the gift of increased funding for neuroscience priorities, extending good will toward millions of Americans affected by Alzheimer’s disease, autism spectrum disorder, traumatic brain injury and many other conditions signified by cognitive impairment.

The bill contains a $21 million increase for brain-related projects at the National Science Foundation, including the Brain Research through Advancing Innovative Neurotechnologies (BRAIN) Initiative.

Described by the White House as having “the potential to do for neuroscience what the Human Genome Project did for genomics,” the BRAIN Initiative is a multi-agency effort to develop new technologies to map the brain’s structure and processes used in thinking and memory. The initiative also taps the expertise of high-tech firms, academic institutions and scientists — all united in pursuing the goal of better preventing, diagnosing and treating brain impairments. Continue reading The Hill: For better brain health, reason to celebrate

Disability Scoop: Students Design Calming Chairs For Those On The Spectrum

KANSAS CITY — Stuart Jackson was on a mission.

For years, the Overland Park, Kan. father had searched for a way to help his son find relief from the stress and anxiety often experienced by children with autism. Like many of those children, Joshua could be soothed through deep touch pressure — the kind of feeling one might get by being tightly hugged or squeezed.

Jackson came across a few potential solutions on the market, but they tended to be clunky, noisy or ineffective. And way too expensive.

So he took it to CAPS — the Center for Advanced Professional Studies in the Blue Valley School District.

And the engineering students rose to the challenge.

Using such items as a papasan chair, an inflatable air bag, a swimming pool noodle and a remote control air pump, they designed and built a device that not only provides deep pressure to calm the user, but is affordable and looks like a regular piece of furniture. It could work in the home or in an educational or clinical setting.

Now the students are testing and refining their two prototypes — the Sensory Chair and the Sensory Lounger (both trademarked) — and have applied for a patent. The ultimate goal: to get the chairs into all Blue Valley schools and beyond, maybe even into homes and clinics.

The children love the chairs, said Keith Manbeck, a CAPS instructor.

“The first time we tested it, one of the kids was on the verge of a meltdown,” Manbeck said. “Then he got in it, and he just calmed right down.”

The chairs, Manbeck said, “are real close to being done.”

“We’ll hopefully put one at Timber Creek Elementary full time next semester,” he said.

Manbeck, a computer-integrated manufacturing instructor, said the chairs will be on display at a sensory fair at a local elementary school in April.

“It’s kind of been a well-kept secret,” he said. “Now we’re ready for the public to see them.”

It’s been well-documented that sensory therapy such as deep touch pressure can calm children with autism, reducing tantrums, meltdowns and hyperactivity.

Temple Grandin discovered that concept by way of a cattle chute.

Often described as the world’s most well-known and accomplished adult with autism, Grandin observed as a teen that the cattle on her aunt’s ranch became calm when they were put in a chute that squeezed them firmly as they were given their vaccinations.

She persuaded her aunt to let her try out the chute and found that the device had the same calming effect on her.

Grandin went on to become a leading advocate for people with autism and is internationally known for using insights gained from her autism to cultivate dramatic improvements in the livestock industry. Her story was told in an award-winning HBO film in 2010.

Grandin designed a “squeeze machine” that works like the cattle chutes, providing deep touch stimulation evenly and laterally.

Amber Englehart, an occupational therapist at Timber Creek Elementary School in Overland Park, said talk of such a device came up at a parent-teacher conference with the Jacksons. Their 11-year-old son, Joshua, is in the LIFT program, which serves children on the severe end of the autism spectrum.

“Joshua’s dad asked if I knew anyone in the district who either had a hug machine, the kind from Temple Grandin, or if any school in the district had one,” she said. “But I didn’t. They’re very expensive.”

That’s when they decided to approach the CAPS program.

Jackson, an entrepreneur with a background in engineering, is president and CEO of AnalyzeDirect, an Overland Park-based medical imaging software company, and has been a mentor to students in the CAPS global business program for two years.

He put together a presentation for CAPS students that included a video showing the difficulties faced by parents with a child on the autism spectrum. He also showed them clips from the movie about Temple Grandin.

“Basically, the stuff that’s on the market either does not apply enough pressure or costs way too much,” he said. “The Temple Grandin squeeze machine costs several thousand dollars. It’s about 5 feet tall and 5 feet wide, weighs 300 pounds and has a big, industrial-strength compressor on it. It’s very noisy and is impractical for a home.”

So he challenged the CAPS students to come up with a device that was lightweight, quiet, aesthetically pleasing and could potentially be used at home.

Manbeck put his engineering students to work. They brainstormed with Englehart and came up with several ideas before deciding on the current prototypes, using Grandin’s research as their inspiration.

The lounger was the first. It has a plywood base, an air mattress pump and cushions made of high-density foam.

They took it to Timber Creek Elementary to test.

“There were five kids who tried it, and not one of them wanted to get out,” Jackson said. “So we regrouped at the beginning of this semester and talked about what we could do to make it an even better design.”

Andy Vietti, a Blue Valley Southwest High School senior, said students observed children in the LIFT program to get a better idea of what sensory issues needed to be addressed. That, combined with the Grandin movie, she said, “really gave me an emotional connection to the project.”

After more brainstorming, the students came up with a new model.

They put inflatable airbags on top of a papasan chair, then placed a vinyl cover over the bags and a swimming noodle around the edges for more cushion. They topped it all with a removable blue cover made of stretch fabric and put a yellow drape with an elastic band around the bottom of the chair to cover the components.

The pressure is regulated by a hand-held remote. The district’s risk manager has checked the chairs out and determined they are safe.

The green lounger weighs about 70 pounds, while the papasan chair, at 30 to 40 pounds, is less cumbersome and easier to transport. The cost of either chair is expected to be just under $1,000.

The students have taken the chairs to Timber Creek Elementary several times for testing.

“Some of them were a little uneasy at first,” said Austin Edmondson, a Blue Valley Northwest High School senior. “But as it inflated around them, they enjoyed the pressure and embraced it. It was pretty cool. Just seeing how it helps the children has been incredible.”

Zach Naatz, a Blue Valley High School senior, acknowledged that the sensory chair project hadn’t been his first choice when he came to CAPS this semester.

“I really wanted to be on the aerospace project,” he said. “But then I read about this one and changed my mind.”

He said he wasn’t sure what to expect at the outset: “I hadn’t had a lot of experience with children with autism.”

But now, he’s convinced he made the right decision.

“I picked this project because I knew it was going to help people,” he said. “And then when I saw the impact it had, I really wanted to see it succeed.”

Now comes the next phase of the project:

“We’ve gotten to the point where we’ve proven the concept,” Jackson said. “Now we’ve got to prove that this is filling some void.”

If they’re able to demonstrate that there is indeed a market for the chairs, the students will develop a business model then take it to potential investors.

The global business students will interview parents of children with autism as well as occupational therapists in special education classrooms and therapy centers.

“This feedback will help us to understand the competitive landscape and the size of the market while generating ideas for improving the products,” Jackson said.

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