Friday, July 18, 2008

07-10-08 Genes From Middle East Families Yield Autism Clues

Genes From Middle East Families Yield Autism Clues
Scientists Hope Findings Will Yield Clues to Mysterious Condition
By LAURAN NEERGAARD
AP Medical Writer
July 10, 2008

RSS WASHINGTON (AP) - Harvard researchers have discovered half a dozen new genes involved in autism that suggest the disorder strikes in a brain that can't properly form new connections.

(ABC News Photo Illustration)The findings also may help explain why intense education programs do help some autistic children - because certain genes that respond to experience weren't missing, they were just stuck in the "off" position.

"The circuits are there but you have to give it an extra push," said Dr. Gary Goldstein of the Kennedy Krieger Institute in Baltimore, which wasn't involved in the gene hunt but is well-known for its autism behavioral therapy.

The genetics suggest that "what we're doing makes sense when we work with these little kids -- and work and work and work -- and suddenly get through," he said.

But the study's bigger message is that autism is too strikingly individual to envision an easy gene test for it. Instead, patients are turning out to have a wide variety, almost a custom set, of gene defects.

Related
U.S. Scientists Eye Unproven Autism TreatmentCommon Chemicals May Have Autism LinkFamilies Seek $$ for Autism-Vaccine Link"Almost every kid with autism has their own particular cause of it," said Dr. Christopher Walsh, chief of genetics at Children's Hospital Boston, who led the research published in Friday's edition of the journal Science.

Autism spectrum disorders include a range of poorly understood brain conditions, from the mild Asperger's syndrome to more severe autism characterized by poor social interaction, impaired communication and repetitious behaviors.


It's clear that genes play a big role in autism, from studies of twins and families with multiple affected children. But so far, the genetic cause is known for only about 15 percent of autism cases, Walsh said.

So Walsh's team took a new tack. They turned to the Middle East, a part of the world with large families and a tendency for cousins to marry, characteristics that increase the odds of finding rare genes. They recruited 88 families with cousin marriages and a high incidence of autism, from Jordan, Saudi Arabia, Kuwait, Oman, Pakistan, Qatar, Turkey and the United Arab Emirates. They compared the DNA of family members to search for what are called recessive mutations -- where mom and dad can be healthy carriers of a gene defect but a child who inherits that defect from both parents gets sick.

In some of the families, they found large chunks of missing DNA regions that followed that recessive rule. The missing regions varied among families, but they affected at least six genes that play a role in autism.

Here's why this matters: All the genes seem to be part of a network involved in a basic foundation of learning -- how neurons respond to new experiences by forming connections between each other, called synapses.

Related
WATCH: Child Autism's Effect on ParentsInsurance vs. Autism: The Problem of Costly CareDebate Rages Anew on Vaccine-Autism LinkIn the first year or two of life -- when autism symptoms appear -- synapses rapidly form and mature, and unnecessary ones are "pruned" back. In other words, a baby's brain is literally being shaped by its first experiences so that it is structurally able to perform learning and other functions of later life.

"This paper points to problems specifically in the way that experience sculpts the developing brain," explained Dr. Thomas Insel, director of the National Institute of Mental Health, which helped fund the work.

Some earlier research had pointed to the same underlying problem, so these newly found genes "join a growing list to suggest that autism is a synaptic disorder," he said.

If that sounds discouraging, here's the good news: The missing DNA didn't always translate into missing genes. Instead what usually was missing were the on/off switches for these autism-related genes. Essentially, some genes were asleep instead of doing their synapse work.

"I find that hopeful" because "there are ways that are being discovered to activate genes," Walsh said. "This might be an unanticipated way of developing therapies in the long term for autism: Identifying these kids where all the right genes are present, just not turned on in the right way."

At Kennedy Krieger, Goldstein thinks the work may provide a gene-level explanation for why some children already are helped by intense therapy.

"We have trouble getting through to these children, but with repeated stimulation we can do it," he said. "These are circuits that have an ability not so much to recover but to work around the problem."

07-06-08 LA Times Who Pays for Autism Treatment?

http://www.latimes.com/business/la-fi-autism6-2008jul06,0,1685457.story

From the Los Angeles Times
Who pays for autism treatment?
An explosion in the number of children diagnosed has parents, insurers and state and private institutions battling over coverage. The case of Andrew Arce is a window into the conflict.
By Lisa Girion
Los Angeles Times Staff Writer

July 6, 2008

By the time Andrew Arce was 15 months old, his parents suspected he was autistic.

He refused to cuddle, flapped his arms and stared into space a lot. On occasion, he picked at his nose until it drew blood and, with it, smeared the walls of the family's Pasadena town house.

It was nearly a year, Guillermo Arce said, before Kaiser Permanente, the family's healthcare provider, confirmed their fears. The diagnosis wasn't much help, though. Kaiser refused to provide most of the treatment that specialists said Andrew needed -- until the state ordered it to in April.

Last month, Andrew, now 2 1/2 years old, began getting the disputed treatment -- including individual training in how to eat and play.

"He is still young," his father said. "He will always be autistic, but maybe he could be fully functioning."

Guillermo Arce's battle is a window on a political and legal struggle playing out across the country amid a surge in diagnoses of autism. Parents, insurers and the government are tussling over who is going to pay for treatment.

"It's health plans versus schools versus regional centers," said Diane Anand, executive director of the Lanterman Regional Center in Los Angeles, one of 21 state-funded centers that serve the developmentally disabled. "It's going to take years to sort this out."

Autism is a disorder that impairs communication and socialization and is often marked by repetitive behaviors such as rocking and head banging. Although there are many theories, its cause remains unknown. There is no cure.

Treatment is mainly behavioral training, teaching such skills as dressing. There is wide agreement that the sooner treatment begins, the more effective it is, and that early intervention pays off in the long run by developing self-reliance.

But it costs money -- as much as $70,000 a year per child. The state spent $320 million last year, up from $50 million a decade earlier. Nationwide, the tab is $90 billion annually, a figure expected to double in a decade.

Parents, in growing numbers, say insurers aren't doing their part. Proposed class-action lawsuits -- including one filed in April by Arce against Kaiser and another filed late last month against Anthem Blue Cross -- allege that California's largest health plans are shirking their duties to autistic members.

Health plans say they cover medically necessary care. The problem, they say, is that parents ask for treatment that insurers deem experimental, or for basic skills training that has long been provided by state-funded regional centers and schools.

"What we're concerned about is we're seeing a shift of the state's responsibilities over to the health plans," said Chris Ohman, president of the California Assn. of Health Plans. "To just say 'We need to have health plans cover all treatments' could have unintended consequences."

But Kristin Jacobson of Autism Speaks California contends that the healthcare industry has "washed its hands of autism entirely." Parents of children who don't qualify for public programs "bear the full burden of the treatment costs and pay their premiums," she said. "They aren't asking for a free ride. They are paying premiums."

The significantly impaired -- about 1 in 5 autistic patients -- qualify for help from the regional centers, which currently serve about 37,000 people with the disorder. As the fastest-growing diagnosis at the centers, accounting for 60% of new intakes, autism adds 11 clients a day.

California's mental health parity law, enacted in 2000, was supposed to settle the issue, requiring insurers to cover autism and other behavioral disorders the same way they cover any medical condition. But critics say insurers are failing to follow the law.

Dr. Benjamin Chu, head of Kaiser in Southern California, said the law requires health plans to cover autism but not particular treatments. So, he said, Kaiser covers what it deems medically necessary.

Kaiser and other insurers say conflicts arise when parents expect them to cover services that schools and regional centers should provide, such as training to change self-destructive behaviors.

"Whether a health plan is responsible or not is a gray zone," Chu said.

But critics contend that health plans are looking for any excuse to avoid paying for expensive treatment.

"Kaiser is really just illegally dumping patients again," said Scott Glovsky, a Pasadena lawyer representing Andrew Arce in the Kaiser suit. "But instead of dumping poor, homeless people on skid row, they are dumping autistic children on the taxpayers."

A state commission report issued in September gives health plans low marks for autism care. It concludes that coverage for medical, behavioral and psychotherapeutic services "is limited, inconsistent or excluded altogether."

State-sanctioned independent medical reviews have concluded that insurers wrongly denied care to autistic patients in dozens of individual cases, but regulators have not issued a single citation.

With complaints on the rise, however, California's Department of Managed Health Care is now looking into the matter, Director Cindy Ehnes said.

Help can't come soon enough for many parents. Already exhausted by the daily struggle to care for their children, they must fight insurers to get the therapy that their own physicians, experts and government authorities say their kids need. In the end, many spend their own money and taking on debt.

Shelley Bell said that she and her husband have spent about $350,000 on treatments for their autistic son, Jason, 11. The family has had four insurance carriers over the years. Bell said she had to battle every one and usually lost.

"A lot of parents just don't have the fight in them," Bell said. "It's almost like a full-time job corresponding with these insurance companies: the follow-up letters, the denial, the appeal. The word among autistic families is the insurance companies turn down everything and wait to see if you are going to appeal."

The Bells refinanced their Westminster home, using the money to pay for treatments. But, Bell said, they still owe about $80,000.

"As much as I hate this debt, it's been great to see the progress," she said. "My son is not fully integrated. But he talks. He's social. He's funny. It's been worth every penny."

Pending lawsuits could change the way insurers deal with their autistic members.

A spokeswoman for WellPoint Inc., parent of Anthem Blue Cross, declined to comment on the suit against the insurer. In general, Shannon Troughton said, Blue Cross covers care it deems medically necessary, including screenings, medications and some therapies for autism.

In Andrew Arce's case, specialists concluded that he needed an array of therapies, including 20 hours a week of applied behavior analysis. The intensive, one-on-one therapy breaks down tasks such as eating into small steps and drills each until mastered.

Several insurers -- Anthem Blue Cross, Blue Shield, Health Net and PacifiCare -- decline to cover the treatment, saying it is unproven.

But advocates say this is a misreading of the medical literature. The U.S. surgeon general concluded in 1999 that it was good medicine, saying 30 years "of research demonstrated the efficacy of applied behavioral methods in reducing inappropriate behavior and in increasing communication, learning and appropriate social behavior."

Kaiser also declines to cover the therapy, but on the grounds that it is educational and not medical. Kaiser is reviewing its policy in light of the state's order that it provide the therapy for Andrew Arce.

lisa.girion@latimes.com

05-05-08 Autism Legislation - Thank you!!!

Hi, everyone!

As most of you probably already know, the autism insurance bills/resolutions did fairly well. Here's what happened...

If you recall, we had 4 different measures in the legislature:
1. HB2727 (Dylan's Law)
2. SB2532 (Senate companion for Dylan's Law)
3. HCR62 (Auditor's review of Dylan's Law)
4. SCR196 (Auditor's review, Senate version)

HB2727 was turned into a Task Force (all the mandates were taken out). This bill passed the House, Senate, and the Conference Committee. The Governor's signature is needed for this one.
http://www.capitol.hawaii.gov/session2008/Bills/HB2727_CD1_.htm

SB2532 was at first deferred (pending the auditor's review), but was then revived and amended for SCR196. They took out the new definition for "medically necessary" so that it wouldn't conflict with the current definition in Hawaii's statute. All the other insurance mandates are still in the bill. This bill did not pass through the legislature, only the Senate Health Committee.
http://www.capitol.hawaii.gov/session2008/Bills/SB2532_SD1_.pdf

HCR62 was amended and is now something completely different. They didn't need this one to pass since SCR196 passed through.

SCR196 passed the House and Senate, with SB2532 as the basis for the auditor's review. This one doesn't need the Governor's signature.
http://www.capitol.hawaii.gov/session2008/Bills/SCR196_SD1_.pdf

What happens now:

The auditor's review will be done - this is needed before any insurance mandates in Hawaii. The State Auditor's office will look at SB2532 for this study. Hopefully, the auditor's study will come back favorable and the premiums will not be found to increase very much. This report must be completed 20 days prior to the start of the 2009 session (in January 2009).

The Task Force will look at Hawaii's capacity with regard to autism services, and their report also must be completed 20 days prior to the start of the 2009 session.

Thank you everyone, for all of your support!!! See you at the Autism Walk on June 14th at Magic Island!!!! www.walknowforautism.org/hawaii

Mahalo!
Kalma

04-18-08 SCR196 (Senate version of Dylans Law) will be heard!! - Send in Testimony!

Aloha, everyone!

SCR196, the Senate version of the resolution for the auditor's study of Dylan's Law, will be heard on Monday, April 21st. at 1 p.m. in room 229 by the House Committee on Health and the Committee on Consumer Protection and Commerce. This will probably be the final hearing for this very important resolution. Remember, we NEED this resolution (and HCR62) to pass.

Please send in testimony in SUPPORT:
Submit testimony in ONE of the following ways:

PAPER: 5 copies (including an original) to Room 436 in the State Capitol;

FAX: For comments less than 5 pages in length, transmit to 586-6051 (Oahu) or 1-800-535-3859 (Neighbor Islands); or

EMAIL: For comments less than 5 pages in length, transmit to HLTtestimony@Capitol.hawaii.gov.

We are almost at the end of the legislative session!! Thank you again for all of your help!!!!

Mahalo!!

04-16-08 Dylan's Law, HCR 62 will be heard this Friday 1:15

Aloha, everyone!

The resolution for Dylan's Law, HCR 62 will be heard this Friday 1:15 by the Senate Health Committee and the Commerce, Consumer Protection, and Affordable Housing Committee. You can send in your previous testimony for this resolution, just change the names of the committees and committee chairs and co-chairs. Please remember, that we NEED this resolution to pass in order get insurance coverage for autism. This resolution requires the state auditor to conduct a study of Dylan's Law.

Please send in testimony to Chair Senator David Ige, Vice-Chair Senator Carol Fukunaga of the Senate Health Committee, and Chair Senator Russell Kokobun and Vice-Chair Senator David Ige of the Commerce, Consumer Protection, and Affordable Housing Committee.

o In person: 1 copy of their testimony to the committee clerk, Room 215, State Capitol.



o By fax: Testimony may be faxed if less than 5 pages in length, to the Senate Sergeant-At-Arms Office at 586-6659 or 1-800-586-6659 (toll free for neighbor islands), at least 24 hours prior to the hearing. When faxing, please indicate to which committee the testimony is being submitted and the date and time of the hearing.



o By Email: Testimony may be emailed if less than 5 pages in length, to testimony@capitol.hawaii.gov. Please indicate to which committee the testimony is being submitted and the date and time of the hearing. Email sent to individual offices or any other Senate office will not be accepted.


See the agenda below (we are 4th on the agenda).

Let me know if you have any questions.
Thank you so much!!!!!

03-13-08 The Audit Resolution for Dylan's Law Passes!!

Aloha, everyone!!!

Thank you to all of you who submitted testimony for today's hearing for HCR62, the audit resolution for the autism insurance bill. The reso was passed by the House Consumer Protection and Commerce Committee!!!!! It's on it's way to the House Legislative Management Committee. Please contact Representative Michael Magaoay at 586-6380 (chair) and Representative James Tokioka 586-6270 (vice-chair) and request a hearing for HCR62.

Also, PLEASE contact the Chair, Senator David Ige (586-6230 senige@capitol.hawaii.gov) and the rest of the Senate Committee on Health and tell them you support HB2727, Dylan's Law, and to schedule a hearing!!!!
The other members are:
Vice-Chair, Senator Carol Fukunaga 586-6890 senfukunaga@capitol.hawaii.gov
Senator Rosalyn Baker 586-6070 senbaker@capitol.hawaii.gov
Senator Ron Menor 586-6740 senmenor@capitol.hawaii.gov
Senator Paul Whalen 586-9385 senwhalen@capitol.hawaii.gov

Thanks!!

Dylan's Law HB2727 is going to the House floor for a vote tomorrow (Tuesday, 3/4/08)

Aloha, everyone!

Dylan's Law HB2727 is going to the House floor for a vote tomorrow (Tuesday, 3/4/08). Please send an email to:

reps@capitol.hawaii.gov

and allrepspermanentstaff@capitol.hawaii.gov

Tell them to vote YES for HB2727!!

Mahalo!!