Significant insights into common form of autism: Study identifies genetic connections in 15q duplication syndrome

Mar. 26, 2013 ? A new study published in the March issue of Autism Research from the University of Tennessee Health Science Center and Le Bonheur researchers is making the genetic connections between autism and Chromosome 15q Duplication Syndrome (Dup15q).

The Memphis researchers determined that the maternally derived or inherited duplication of the region inclusive of the UBE3A gene (also known as the Angelman/Prader-Willi syndrome locus) are sufficient to produce a phenotype on the autism spectrum in all ten maternal duplication subjects. The number of subjects was too small to determine if parental duplications do not cause autism. The team assembled the largest single cohort of interstitial 15q duplication subjects for phenotype/genotype analysis of the autism component of the syndrome.

Chromosome 15q Duplication Syndrome (Dup15q) results from duplications of chromosome 15q11-q13. Duplications that are maternal in origin often result in developmental problems. The larger 15q duplication syndrome, which includes individuals with idic15, manifests itself in a wide range of developmental disabilities including autism spectrum disorders; motor, cognitive and speech/language delays; and seizure disorders among others. While there is no specific treatment plan, therapies are available to address or manage symptoms.

Previous research suggests that as many as 1,000 genes may contribute to autism phenotypes, but as much as 1-3 percent of all autism spectrum disorder cases may be a result of 15q11-q13 duplication alone.

The researchers also found through EEG evaluations a pattern that looks like the type of signal you see when individuals take GABA promoting drugs (benzodiazepines). The lead researcher on this study, Lawrence T. Reiter, PhD, says this signal gives clinicians a clue about what types of anti-seizure medication may be most useful in children with 15q duplications.

Reiter says genetic testing can help families connect to resources, like the Dup15q Alliance. Reiter is an associate professor in Department of Neurology with an adjunct appointment in Pediatrics at UTHSC.

"If a pediatrician suspects autism due to hypotonia and developmental delay, I highly recommend they order an arrayCGH test. Duplication 15q is the second most common duplication in autism. The test will help families in future treatments specific to this sub-type of autism," he said.

Reiter collaborated with UTHSC and Le Bonheur Neurologist Kathryn McVicar, MD, and Geneticist Eniko K. Pivnick, MD. The study was funded by the Herbert and Mary Shainberg Neuroscience Fund. Reiter serves on the scientific advisory board for the Duplication 15q Alliance and Idic15 Canada.

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The above story is reprinted from materials provided by Le Bonheur Children's Hospital.

Note: Materials may be edited for content and length. For further information, please contact the source cited above.

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Journal Reference:

1. Nora Urraca, Julie Cleary, Victoria Brewer, Eniko K. Pivnick, Kathryn McVicar, Ronald L. Thibert, N. Carolyn Schanen, Carmen Esmer, Dustin Lamport, Lawrence T. Reiter. The Interstitial Duplication 15q11.2-q13 Syndrome Includes Autism, Mild Facial Anomalies and a Characteristic EEG Signature. Autism Research, 2013; DOI: 10.1002/aur.1284

Note: If no author is given, the source is cited instead.

Disclaimer: This article is not intended to provide medical advice, diagnosis or treatment. Views expressed here do not necessarily reflect those of ScienceDaily or its staff.

Source: http://feeds.sciencedaily.com/~r/sciencedaily/~3/JTnAUn72PiU/130326101532.htm

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Study: Health overhaul to raise claims cost 32 pct

FILE - In this March 23, 2010 file photo, Marcelas Owens of Seattle, left, Rep. John Dingell, D-Mich., right, and others, look on as President Barack Obama signs the health care bill in the East Room of the White House in Washington. Medical claims costs _ the biggest driver of health insurance premiums _ will jump an average 32 percent for individual policies under President Barack Obama?s overhaul, according to a study by the nation?s leading group of financial risk analysts. Recently released to its members, the report from the Society of Actuaries could turn into a big headache for the Obama administration at a time when many parts of the country remain skeptical about the Affordable Care Act. (AP Photo/J. Scott Applewhite, File)

FILE - In this March 23, 2010 file photo, Marcelas Owens of Seattle, left, Rep. John Dingell, D-Mich., right, and others, look on as President Barack Obama signs the health care bill in the East Room of the White House in Washington. Medical claims costs _ the biggest driver of health insurance premiums _ will jump an average 32 percent for individual policies under President Barack Obama?s overhaul, according to a study by the nation?s leading group of financial risk analysts. Recently released to its members, the report from the Society of Actuaries could turn into a big headache for the Obama administration at a time when many parts of the country remain skeptical about the Affordable Care Act. (AP Photo/J. Scott Applewhite, File)

Map shows projected change in medical claim costs by

WASHINGTON (AP) ? Insurance companies will have to pay out an average of 32 percent more for medical claims on individual health policies under President Barack Obama's overhaul, the nation's leading group of financial risk analysts has estimated.

That's likely to increase premiums for at least some Americans buying individual plans.

The report by the Society of Actuaries could turn into a big headache for the Obama administration at a time when many parts of the country remain skeptical about the Affordable Care Act.

While some states will see medical claims costs per person decline, the report concluded the overwhelming majority will see double-digit increases in their individual health insurance markets, where people purchase coverage directly from insurers.

The disparities are striking. By 2017, the estimated increase would be 62 percent for California, about 80 percent for Ohio, more than 20 percent for Florida and 67 percent for Maryland. Much of the reason for the higher claims costs is that sicker people are expected to join the pool, the report said.

The report did not make similar estimates for employer plans, the mainstay for workers and their families. That's because the primary impact of Obama's law is on people who don't have coverage through their jobs.

The administration questions the design of the study, saying it focused only on one piece of the puzzle and ignored cost relief strategies in the law such as tax credits to help people afford premiums and special payments to insurers who attract an outsize share of the sick. The study also doesn't take into account the potential price-cutting effect of competition in new state insurance markets that will go live on Oct. 1, administration officials said.

At a White House briefing on Tuesday, Health and Human Services Secretary Kathleen Sebelius said some of what passes for health insurance today is so skimpy it can't be compared to the comprehensive coverage available under the law. "Some of these folks have very high catastrophic plans that don't pay for anything unless you get hit by a bus," she said. "They're really mortgage protection, not health insurance."

A prominent national expert, recently retired Medicare chief actuary Rick Foster, said the report does "a credible job" of estimating potential enrollment and costs under the law, "without trying to tilt the answers in any particular direction."

"Having said that," Foster added, "actuaries tend to be financially conservative, so the various assumptions might be more inclined to consider what might go wrong than to anticipate that everything will work beautifully." Actuaries use statistics and economic theory to make long-range cost projections for insurance and pension programs sponsored by businesses and government. The society is headquartered near Chicago.

Kristi Bohn, an actuary who worked on the study, acknowledged it did not attempt to estimate the effect of subsidies, insurer competition and other factors that could mitigate cost increases. She said the goal was to look at the underlying cost of medical care.

"Claims cost is the most important driver of health care premiums," she said.

"We don't see ourselves as a political organization," Bohn added. "We are trying to figure out what the situation at hand is."

On the plus side, the report found the law will cover more than 32 million currently uninsured Americans when fully phased in. And some states ? including New York and Massachusetts ? will see double-digit declines in costs for claims in the individual market.

Uncertainty over costs has been a major issue since the law passed three years ago, and remains so just months before a big push to cover the uninsured gets rolling Oct. 1. Middle-class households will be able to purchase subsidized private insurance in new marketplaces, while low-income people will be steered to Medicaid and other safety net programs. States are free to accept or reject a Medicaid expansion also offered under the law.

Obama has promised that the new law will bring costs down. That seems a stretch now. While the nation has been enjoying a lull in health care inflation the past few years, even some former administration advisers say a new round of cost-curbing legislation will be needed.

Bohn said the study overall presents a mixed picture.

Millions of now-uninsured people will be covered as the market for directly purchased insurance more than doubles with the help of government subsidies. The study found that market will grow to more than 25 million people. But costs will rise because spending on sicker people and other high-cost groups will overwhelm an influx of younger, healthier people into the program.

Some of the higher-cost cases will come from existing state high-risk insurance pools. Those people will now be able to get coverage in the individual insurance market, since insurance companies will no longer be able to turn them down. Other people will end up buying their own plans because their employers cancel coverage. While some of these individuals might save money for themselves, they will end up raising costs for others.

Part the reason for the wide disparities in the study is that states have different populations and insurance rules. In the relatively small number of states where insurers were already restricted from charging higher rates to older, sicker people, the cost impact is less.

"States are starting from different starting points, and they are all getting closer to one another," said Bohn.

The study also did not model the likely patchwork results from some states accepting the law's Medicaid expansion while others reject it. It presented estimates for two hypothetical scenarios in which all states either accept or reject the expansion.

Larry Levitt, an insurance expert with the nonpartisan Kaiser Family Foundation, reviewed the report and said the actuaries need to answer more questions.

"I'd generally characterize it as providing useful background information, but I don't think it's complete enough to be treated as a projection," Levitt said. The conclusion that employers with sicker workers would drop coverage is "speculative," he said.

Another caveat: The Society of Actuaries contracted Optum, a subsidiary of UnitedHealth Group, to do the number-crunching that drives the report. United also owns the nation's largest health insurance company. Bohn said the study reflects the professional conclusions of the society, not Optum or its parent company.

___

AP White House Correspondent Julie Pace contributed to this report.

Online:

Society of Actuaries __ http://www.soa.org/NewlyInsured/

Associated Press

Source: http://hosted2.ap.org/APDEFAULT/386c25518f464186bf7a2ac026580ce7/Article_2013-03-26-Health%20Overhaul%20Costs/id-71f9eb44c0d2421eaed52447477199d6

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Snow, wintry rain: Messy Monday looms for East Coast

By Alastair Jamieson, Staff writer, NBC News

A messy Monday was in store for millions along the East Coast, with winter weather advisories warning of a mixture of snow and rain for Washington, D.C., Philadelphia, metropolitan New York and parts of northeast New Jersey.

Snow was falling in Cape May, N.J., as of 4:30 a.m. ET Monday, with lighter snow reported in Georgetown,?Delaware, according to NBC10.com?in Philadelphia.

Some areas outside the capital Beltway were forecast to see up to six inches of snow overnight Sunday into Monday.

A winter weather advisory was in effect beginning at 6 a.m. ET for the New York metropolitan area and parts of northeast New Jersey, NBCNewYork.com reported. Snow and rain showers are expected to arrive around 7 a.m. ET Monday and continue through the late afternoon, winding down by the early evening.

In Philadelphia, rain during the morning commute was expected to change to a wintry mix of snow and rain that will last for most of the day.

"During the morning rush hour around 6 a.m. we'll see more rain to the south of us," Philadelphia?s NBC10 meteorologist Brittney Shipp said. "Some of the rain will switch over to snow during the day and continue into the evening. There will be some grassy accumulation and the possibility of slippery, untreated roads."

Most of the area inside the Beltway will likely only see a mix of rain and snow with accumulations of less than one inch, which would be more than enough to make area roads wet and slushy, NBCWashington.com reported.

However, areas north and west of the D.C. Metro area were expected to see between two and four inches of snow Sunday night, particularly in locations along and near Interstate 81. Areas west of the capital will see up to two inches of snow, with the area of Interstate 81 receiving between three and six inches. Areas farther west could receive up to eight inches of snow by Monday evening.

A winter weather advisory is currently in effect from midnight to 6 p.m. ET Monday for Frederick and?Carroll counties in Maryland and Augusta, Washington, Rockingham, Frederick, Shenandoah, Page, Warren, Nelson Green, Loudoun, and Northern Fauquier counties in Virginia.

A storm system blanketed the Midwest in snow, while thunderstorms and wind gusts slammed the South, NBC's Janel Klein reports.

This story was originally published on Mon Mar 25, 2013 5:02 AM EDT

Source: http://feeds.nbcnews.com/c/35002/f/653381/s/29f426b5/l/0Lusnews0Bnbcnews0N0C0Inews0C20A130C0A30C250C174518590Esnow0Ewintry0Erain0Emessy0Emonday0Elooms0Efor0Eeast0Ecoast0Dlite/story01.htm

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DICE+ launches $99 developer kit, pre-orders for $40 consumer model start this summer

Game Technologies, the Poland-based company behind the little electronic die that is DICE+, has just announced a $99 developer edition that bundles a transparent-cased model along with its software development kit. As a reminder, the DICE+ is an inch-sized rubberized cube packed with Bluetooth, an accelerometer and a rechargeable battery, with the aim of bringing human interaction to electronic board games and beyond.

We had a look at a demo DICE+ here at the 2013 Game Developers Conference and it looks relatively unchanged from the one we saw at E3 last year. However, the microUSB port is now revealed via a sliding mechanism instead of a pull-out flap, which should result in a more balanced roll. Marketing director David Gatti also told us that the cube's internals have been revamped and simplified for more cost-effective production.

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Jaime Ray Newman Expecting First Child

The Red Widow star and her husband, writer/director Guy Nattiv, are expecting their first child - a daughter - this summer, Newman's rep tells PEOPLE exclusively.

Source: http://feeds.celebritybabies.com/~r/celebrity-babies/~3/z37zmDzNZ-c/

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2013 NFL Free Agency: Final grade for the Titans

The Titans might still have a move or two left in them, but they are done with the major moves at this point. I love that they went after it this free agency period. They were able to address most of their needs, and it will really free them up to draft whoever they want in next month's draft.

This camp is also going to be the first one in a while where there has been legitimate competition for starting spots. They have had "camp battles" the last couple of years, but they have always been more about a back-up spot or the last roster spot.

I would have really liked to see them add one of the veteran pass rushers, but it doesn't appear that is going to happen at this point.

They still get a B+ from me. They would have gotten an A if they added that pass rusher, but still a solid effort.

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Source: http://www.musiccitymiracles.com/2013/3/24/4141268/2013-nfl-free-agency-grades-titans

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Is Your Nursing License Actually Holding You Back?

?Be who you are and say what you feel, because those who mind don?t matter and those who matter don?t mind? ~Dr. Seuss (Sent via Twitter from Adam Urbanski, ?Attract Clients Like Crazy? program)

?

What? ?That?s a crazy question, if it wasn?t for your nursing license where would you be now? ?I remember that day, you know pinning?

This was AFTER my other college degree and 4 fitness certifications. Those certs have since lapsed. But the nursing license is still valid. I think I had a 20" inch waist back then...

Fast forward to the present, 2013, and I?m struggling to understand how in a program that I?m enrolled in, to market our services to doctors (legally), that I?m the only nurse in it. ?There?s ?Heart Scanners?, Fitness Professionals, Natural Hormone Therapy Coaches, Green Nutritionist Coaches, Anti-Aging/Longevity Coaches, etc. ?You get my drift. ?Where are all the ?licensed? people? ?Want to hear the craziest part of all? ? they have developed viable programs that physicians are interested in and partnering with and they?re making a living? a good living at that, for them and for the physician. ?They are ?partners?.

You would think that nurses, like you, who want to branch out and do your own thing? share your gifts and talents by making people healthier through fitness would have thought of this? working with , partnering with physicians. ?Can we be too close?

Then I started thinking? oh know not that?

Many other professions are really, technically entrepreneurs.

Doctors, CPA?s, Lawyers, Dentists, Chiropractors, even Pharmacists who own their own pharmacy, all have to bring in clients and find ways to make cash. Nurses, on the other hand, expect a job and to work for somebody. ?So unless you are like me and the other small percentage of ?not mainstream thinking? nurses, when and if you decide to try something on your own, you still play it safe and want to stay well within your credentials and what the nursing powers say.

Entrepreneurship has rules, but one of the most important ones is to take risks, express yourself and do something no one else is doing, yet solving a problem? something most nurses aren?t willing to do.

The descriptions of those in the same program that I?m in, that I described above, do just that? they take risks, stick their neck out, when knocked down, they bounce back up? they really live that Dr. Seuss quote I had at the top of this post. Is it because they don?t have a license to ?worry? about?

New Nurse Coaching Book

?Nurse coaching is not a specialty area of nursing practice. ?Nurse Coaching competencies are based in nursing theories, social and behavioral science theories and (of course) evidence-based promotion of health and well-being? excerpt from the Preamble of ?The Art & Science of Nurse Coaching, the Provider?s Guide to Coaching Scope and Competencies?, 6 nurse authors and published by the ANA.
The (of course) is mine. ?Whenever I hear the words ?evidence-based? I feel a little sick to my stomach. I understand what it means, but to the public, who gets bombarded with studies all day and night, how does it translate to solving their immediate problem, as a nurse coach? ?You can find whatever evidence you want in a study to promote your point of view, even peer-reviewed. ?There now it?s ?evidence-based?. ?I must say they did a lot of research, the book is 90 pages and pages 55-90 are all references, appendices and the index. ?That?s evidence-based for real! ?If you are a nurse coach it?s a good book to have on the shelf. ?I don?t want to bash nurse colleagues? is it too late for that? ?But after literally forcing myself to finish it in a week (Only 55 pages of writing), I said, ?no wonder nurses aren?t making any money in the markets they want to serve?. ?It was purely academia, theoretical and boring.

Most theory is, isn?t it?

Hey, nursing theory will never change and researchers need to remind us about the basis for nursing practice and in this case, nurse coaching. ?Hell, I?ve quoted Dorothea Orem?s self-care theory in my CFNC home study program. ?And I agree clients need to become experts in their own care. ?But I wonder, when I saw all the authors, all 6 of them, and then the contributors inside, all had no less than 12 initials behind their names (I?m exaggerating a little, am I just a hater?), all coming together to clarify what nurse coaching is and the art & science of it is, how many of them have striving coaching practices that they love, with ideal clients that they love, utilizing packages (not the ?old, never make real money? the dollars for hours model==> you end up dreading picking up the phone and burning out); are they leveraging their marketing and time through automation and the internet and Google, have referral systems and a simple business model that?s ?set it and forget it? and brings clients who look for them, not them chasing clients? ?These nurse authors are great at what they do. But they just can?t help me get more clients. ?They?re not trying to either, not their job.

I hope all of you buy the book and read it and take away from it what you need. Credentialing is important , especially when licenses are involved. ?But you do have a license and it?s MOST important! ?What about the RN or LPN who has training in fitness, has an awesome program that has been helping people in their community. ?There is no legal reason why this brilliant nurse can?t call themselves a fitness nurse coach, put that program together, that?s easy to understand and market it to their ideal clients and improve the lives of those people. ?If they follow the nursing process they will be successful in their program development; but not necessarily in their business/practice. ?What often happen is when they try to put all that theory into the market? they flop, they aren?t making any money. ?The learning process is really just beginning for the new fitness nurse entrepreneur.

Nurses my point is, if you don?t step up and start learning about your offer and sales and marketing and stop worrying so much about ?getting permission? or what ?others may think?, other professionals, not as medically qualified as you, are going to do it for you. They?re doing it now.

By the way I sent out an e-mail, a while ago, to most of you about this course that I?m currently taking. ?It? called, ?Your Million Dollar Customer? Roadmap to a Profitable Physician Partnership?. ?None of you signed up? ?Maybe it was the title that turned you off? ?Or maybe it was the $1,000 price tag for 6 weeks, maybe you thought you?re just not ready yet. ?Or even more unsettling, you keep telling yourself you can figure it out on your own? (every successful person I know had to get help. I shouldn?t judge you, maybe you?re different)

If not this program, which one, if any? My $1000 dollar investment was not in just a program teaching me how to market my services to doctors, but it is also in?making connections with people (for future joint ventures) who are doing what I want to be doing, working with doctors as partners. ?(You may not want to work with doctors, which is fine, but who do you want to work with?) ?I?ll also get exposure on a radio station targeted to medical practitioners, over 2,000 listen in, a free table at the annual conference and my logo on the company?s website. ?To me, that alone is worth the enrollment fee. ?I?m also getting fitness nurse consulting on the map for you. ?No one in this course ever heard of fitness nurse consulting, many of them with connections in the medical field, will now know who Minky is when the 6 weeks is over!

I know what you may be thinking? you just don?t know where to start. ?I am working with only 2 nurses, helping them become Fitness Nurse Consultants. ?It?s a 6-month journey. ?And 2 nurses are really all I can handle. ?Step by step, hand holding is a lot of work. ?But they are not disappointing me. ?Because of their inspired action, I will reward them with everything I learn as I go forward too and creating more social proof for you with my own Fitness Nurse Consulting practice.

Whatever it was that stopped you from acting then, don?t let it hold you back from your dreams. ?It?s happening all around us and if you are unhappy in your current situation and want to be your own boss, you have to step out, invest in yourself to boost your confidence and market YOUR SOLUTION to people. ?The people who are paying you don?t know what all the letters mean and it?s a marketing disaster. ?Credentials in academia (faculty) are great, in business; not so much. ?Even doctors want simple explanations and love brevity when you try to get their attention. Ask yourself, ?What is the specific result of what I do??

Credentials, titles, initials are all about you. ?Maybe except for your title, you have to step away from that for a while and come up with solutions to people?s problems that you?ve learned from all that training and market that. ? Also ask yourself, ?what do I love doing?? ??Who do I love working with??

After you state your title (still in a solution format), let people know, with passion, HOW you help solve problems of the people you serve. ?Remember what you do and what you solve is NOT for everybody. ?But the person you are talking to may know somebody, and tell them, if they understand what you do and can explain it to someone else. ?Here?s my example:

?What do you do??

?I?m a Weight Maintenance Coach and Fitness Nurse Consultant?

?What is that??

?I help busy women who have had weightloss surgery or who have lost weight, to NEVER RE-gain the weight by showing them 4 simple steps to follow?

Everyone I have said that to wants to know more. ?Everyone.

Then and only then, will the great clients, then the great income, come your way.

I know you can do it. ?Just focus on the solution you provide and go from there. Don?t let your nursing license hinder you by staying in the ?nursing box? of ?I don?t have enough credentials?, people out there need and want your guidance to get and stay healthy! ?Health professionals are getting out there, please let them be you.

P.S. Please don?t write me and ask how to become a ?Weight Maintenance Coach?. ?I made it up. ?No degree or certification that I have or have had can prepare me to help my ideal clients maintain their weight with the strategies from experience that I?ve learned over the years. ?That?s how I got the title, I gave it to myself, so people could understand what I do and to spark interest.

It?s basically what I help them to do. ? Period.

Source: http://certifiedfitnessnursing.com/2013/03/is-your-nursing-license-actually-holding-you-back/

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