Rett Syndrome Announcements

IRSF annouces major "Southwest Fest" fundraiser in Richmond, VA

Virginia Families and Richmond, VA Resident/Chairman of the International Rett Syndrome Foundation Host Fundraiser Featuring Singer/Songwriter Kevin Black

Promising Research Inspires Increased Efforts; American Idol Contestant Sparks Rett Syndrome Awareness

RICHMOND, VA (January 25, 2008) – Recent breakthroughs in Rett syndrome research with potential implications for reversing other neurological disorders are inspiring Richmond’s first-ever International Rett Syndrome Foundation (IRSF) benefit. Also inspiring these efforts are the more than 200,000 women and children worldwide affected by this condition, such as 6-year-old Richmonder Anna Cate Rabke, who visited doctors and therapists all over the country when her language skills never developed to more than 10 words. “After Anna Cate temporarily lost the ability to walk, a genetic test revealed one of our worst nightmares: she had Rett syndrome,” said Anna Cate’s mom, Emilie. “Every day we pray that her regression will not advance.”

“Rett syndrome (RTT) is a genetic neurological disorder that occurs almost exclusively in girls,” Kathryn Schanen Kissam, Richmond, VA, resident and chairman of the board for IRSF commented. “Rett syndrome becomes apparent after six–18 months of early normal development. It results in a regression that leads to lifelong disabilities including loss of speech, purposeful hand use and mobility. It is often misdiagnosed as autism or cerebral palsy.”

Awareness of Rett syndrome recently increased significantly when 26-year-old Chicago native Angela Martin, the mother of a girl with RTT, won her way on American Idol to the round in Hollywood, CA. “It’s not about fame for me, it’s about getting her the best care, the best therapists,” Martin told the camera during an American Idol show, according to a press release issued by IRSF. “The doctors told me my daughter was never going to walk or talk. I’m going to get that for her.”

On February 29th, 2008, the International Rett Syndrome Foundation and several Richmond families with daughters who have Rett syndrome are hosting a Southwest Fest, “Spending Time, Ending Rett Benefit,” at the Virginia Historical Society in Richmond, VA. The benefit features a live auction and a performance by singer and songwriter Kevin Black, brother to Country Music’s 10-time platinum-selling artist, Clint Black. Kevin Black will perform to celebrate the memory of his daughter, Cortney Black, who lost her battle to Rett syndrome. Funds from this event benefit IRSF’s Circle of Angels Research Fund. One-hundred percent of net proceeds are earmarked for research. (Julia Roberts serves as co-chairman of this Research Fund.)

According to Kissam, with the discovery of the gene that causes Rett syndrome in 1999 and promising 2007 research that shows the reversibility of RTT symptoms in mice, the pace of innovation in the field of Rett syndrome research and treatment calls for increased efforts. “We now have an unprecedented and historic opportunity to fund crucial new research with the potential to impact millions of lives and advance the

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understanding of Rett syndrome and many other related disorders. Because Rett syndrome is a classic chromatin disorder, it has become the ‘rosetta stone’ of brain disorders and likely holds the key to unlock treatments and cures for other related disorders including autism, schizophrenia and some forms of mental retardation.”

In December 2007, the breakthrough research funded by IRSF which showed the reversibility of Rett syndrome in genetic mouse models was selected as one of the top five most important scientific breakthrough of the year by WIRED magazine. “Increased funding for research could lead to treatments not only for Rett syndrome but for other neurologically based disorders as well,” Kissam added. “We are confident that this infusion of resources will help accelerate the translation of basic research discoveries to clinical applications, with tangible benefits for individuals struggling with Rett syndrome.”

“Somewhere in the world, every five hours a child is born with Rett syndrome. RTT affects one in 10,000–15,000 live female births including my daughter, Mary Grace,” said Hamilton Holloway, parent and owner of Bear Creek Coffee in Richmond, a sponsor of the event. “I believe the increased funding for much-needed research may one day help change Mary Grace’s future. It will also surely mean that one day another family we will never know won’t face the trials of Rett syndrome.”

The International Rett Syndrome Foundation is the largest and most comprehensive not-for-profit organization for parents, scientists, interested professionals and others concerned with Rett syndrome. The mission of IRSF is to support and encourage medical research to find a cure and treatments for RTT, to increase public awareness, and to provide information and emotional support to families of children with RTT. In 2007, Kissam led the merger of the International Rett Syndrome Association and Rett Syndrome Research Foundation, resulting in the creation of IRSF. She became involved in the late 1990’s in honor of her sister, Carolyn Schanen, MD, PhD, whose work to help discover the gene that causes Rett Syndrome and care of patients with this condition inspired Kathryn to work collaboratively on seeking cures and treatments.

To purchase tickets to the “Spending Time, Ending Rett Benefit” or to support IRSF, please call (804)741-3687 or visit www.rettsyndrome.org. Tickets are $150 per couple or $75 per individual and include hors d’oeuvres, cocktails and a southwest dinner.

Contact:
Kathryn Schanen Kissam, IRSF Chairman (804) 741-3687 or (804) 519-6231 (cell)

Kathryn@denovocomm.com

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New Hampshire Golf Tournament Raises $22,000 for International Rett Syndrome Foundation

An announcement in the July 10, 2007 issue of the Concord Monitor (New Hampshire) newspaper caught our attention. It was a note of thanks from children of a man named Arthur Fillmore who staged a charity golf tournament that raised $22,000 to benefit the International Rett Syndrome Foundation. While most of us never knew Mr. Fillmore, many of us in the Rett Syndrome Community are acquainted with Mr. Fillmore’s daughter Marlyn Curtin, her husband John, their daughter Jocelyn (who has Rett Syndrome) and their son Jake.

Here is the report from the tournament:

“The family of Arthur Fillmore would like to express our sincerest gratitude for the generous support from the community, business associates and friends during the first Arthur C. Fillmore Golf Tournament, which was held June 22 at Loudon Country Club. The tournament was an overwhelming success. Thank you to our many sponsors, supporters, friends and volunteers and to the 144 golfers who signed up. We all had a great day, and next year, we will try to find a way to accommodate more players.

We were able to send a check for more than $22,000 to the International Rett Syndrome Association, which will go directly to the research fund.

Thank you again to all for your support and generosity.

Marlyn, Greg, Cheryl, Kim, Lisa, Neal and Glen, the children of Arthur C. Fillmore

What a very nice way of thanking all who attended and supported the event! The event was a resounding success. It sounded as if they had more people interested in playing than they could accommodate. And, $22,000 is a significant contribution toward Rett Syndrome research. 

This announcement caused me to wonder more about who Mr. Arthur Fillmore was. The most important thing I learned from my research was that he was “a wonderful father who loved life and lived every moment bringing happiness to others.” I also learned that Mr. Fillmore was a successful businessman in the sand and gravel business. He had many cherished loved ones who must deeply miss him since he passed away in a tragic automobile accident last year at the age of 74.

Kudos to all the organizers of this event. We hope the momentum of this year’s event continues into next year. Thank you for bringing happiness to the entire Rett Syndrome Community with your significant donation. I am certain that Mr. Fillmore would be very proud of you. We are too!

U.S. Department of Education Reports Show Continued Need For Improvement in Implementation of IDEA

For the first time, the U.S. Department of Education has issued determination letters on implementation of the Individuals with Disabilities Education Act (IDEA) to each state education agency for Part B and to each lead agency for Part C. The determinations, required under the statute, are part of the on-going efforts to improve results for children and youth with disabilities.

As amended in 2004, the IDEA requires the Secretary of Education to make an annual determination as to whether each state is meeting the requirements of the statute. Under the IDEA each state is required to have in place a State Performance Plan (SPP) that evaluates the state’s efforts to implement the requirements and purposes of Parts B or C of the IDEA, and describes how the state will improve its implementation of these programs. Each state must then submit an Annual Performance Report (APR) detailing its progress in meeting the targets it established in its SPP.

The Department approved states’ SPPs in 2006 and States submitted their first APRs under the SPPs in February of 2007. The letters the Department issued announce and explain the first determinations made under these new requirements of the IDEA.

The IDEA details four categories for the Secretary’s determination:

Meets the requirements and purposes of the IDEA

Needs assistance in implementing the requirements of the IDEA

Needs intervention in implementing the requirements of the IDEA

Needs substantial intervention in implementing the requirements of the IDEA

Data and criteria used to make determinations:

To make the determination for each Part B and Part C program, the Department considered the state’s APR, information obtained through monitoring visits, and any other public information. The following factors were considered for each state’s determination under each program:

For each compliance indicator in the APR, whether the state demonstrated compliance or that it corrected noncompliance in a timely manner, or if it did not demonstrate compliance, nonetheless had made progress in ensuring compliance over prior performance in that area. For all indicators in the SPP and APR, whether the state provided valid and reliable FFY 2005 data that reflected the measurement for the indicator. Whether the state had other IDEA compliance issues that had been identified in the Department’s monitoring, audit or other activities, and the state’s progress in resolving those problems.

The IDEA identifies specific technical assistance or enforcement actions aligned with each of the determinations, with the exception of “Meets Requirements” that the Department must take under specific circumstances. These actions are consistent with the level of concern signaled by the determination, however, consistent with the IDEA, none of the enforcement actions will be applied to states this year.

Copies of the determination letters for each state will be available on Part B at:

http://www.ed.gov/fund/data/report/idea/partbspap/index.html

and, for Part C:

http://www.ed.gov/fund/data/report/idea/partcspap/index.html

Below is a summary of the State results:

PART B DETERMINATIONS

Meets Requirements

Alaska, Connecticut, Hawaii, Michigan, Oregon, Pennsylvania, Tennessee, Virginia, Wyoming

Needs Assistance

Alabama, American Samoa, Arizona, Arkansas, Bureau of Indian Affairs, California, Delaware, Florida, Georgia, Guam, Idaho, Illinois, Iowa, Kansas, Kentucky, Louisiana, Maine, Maryland, Massachusetts, Minnesota, Mississippi, Missouri, Montana, Nebraska, Nevada, New Hampshire, New Jersey, New Mexico, New York, Ohio, Oklahoma, Palau, Republic of the Marshall Islands, Rhode Island, South Carolina, South Dakota, Texas, Utah, Vermont, West Virginia, Wisconsin

Needs Intervention

Colorado, Commonwealth of the Northern Marianas Islands, Washington, DC, Federated States of Micronesia, Indiana, North Carolina, North Dakota, Puerto Rico, Virgin Islands, Washington

Needs Substantial Intervention

None

PART C DETERMINATIONS:

Meets Requirements

Alabama, Alaska, Connecticut, Commonwealth of the Northern Marianas Islands, Iowa, Maryland, Montana, Nebraska, Oklahoma, Oregon, South Dakota, Texas, Utah, West Virginia, Wyoming

Needs Assistance

American Samoa, Arkansas, Delaware, Florida, Georgia, Guam, Hawaii, Idaho, Illinois, Indiana, Kansas, Louisiana, Massachusetts, Mississippi, Missouri, New Hampshire, New Jersey, North Carolina, Pennsylvania, Puerto Rico, Vermont, Virginia, Virgin Islands, Washington, Wisconsin

Needs Intervention

Arizona, California, Colorado, Washington, DC, Kentucky, Maine, Michigan, Minnesota, Nevada, New Mexico, New York, North Dakota, Ohio, Rhode Island, South Carolina, Tennessee

Needs Substantial Intervention

None

Rett Fundraising: Pig Party Raises Funds for Rett Syndrome research

Source

The Nashville Tennessean, Nashville, TN, 04 July 2007, Tennessean.com

Publisher’s Note

Kudos to the Poulton family on a great fundraising effort. Having lived in Nashville, Tennessee in the 1990s, I can attest to the generosity and determination of residents in that part of the United States. This is outstanding evidence that even a family organized event can make a profoundly positive difference.

The original article and photos were carried by the largest newspaper in Middle Tennessee, thereby adding significantly to the awareness of Rett Syndrome. Back in 1997 doctors at Nashville’s Vanderbilt University Hospital who examined my daughter thoroughly had never heard of Rett Syndrome. 

GOODLETTSVILLE, TN, USA — More than 80 friends and neighbors attended the 10th annual Poulton Pig Party, held by the Poulton family of Goodlettsville. The annual party, on June 9, took on new meaning this year as the family took up donations for Rett Syndrome research, a rare neurodevelopmental disorder that affects the Poultons' granddaughter. "Our fundraising effort raised about $1,100," Brent Poulton said. "The weather was great, and the pig did his part." Read More…

Rett Announcements: A Growing Service of Rett Syndrome Magazine

If you check out the category listings at Rett Announcements, you will find a growing array of additional Rett Syndrome information and insight. You can get to Rett Announcements using either of two ways:

• Rett Syndrome Magazine: www.rettsyndrome.info/announcements
• Direct link: www.RettAnnouncements.com

Rett Syndrome Announcements is growing to become the bulletin board or classified ads of the Rett Syndrome Community. Announcements can  include a variety of issues relevant to those within the Rett Syndrome Community. Examples include:

• Research breakthroughs
• Clinical trials
• Fundraising events
• Association news
• Personnel changes
• Jobs available
• Grant making news
• Products for sale
• Services offered

Beyond the growing information and insight, another great thing about Rett Syndrome Announcements is that it is FREE! There is no charge to include your listing and all you have to do is bookmark the page to find your way back.

If you know of anyone else who might be interested in a free listing at Rett Announcements, please forward this page to them. If you have an announcement to add, please email it to us at mail@rettsyndrome.info

Thank you for the opportunity to be of service. 

How to Submit Your Announcements

While we have received many announcments so far, we want to remind people in the Rett Syndrome Community that you can send your Rett Syndrome related event announcements for inclusion in Rett Syndrome Annoucements by emailing us at mail@rettsyndrome.info
For event announcements, please include the dates, geographic area covered, and any pertinent information. For fundraising events we will even give a plug to your event sponsors so you can further extend your reach on their behalf. Make sure you provide links to any event web page as well as sponsor links.
For product and service announcements, please make sure your description is relevant to those with Rett Syndrome or others in the Rett Syndrome Community.
Finally, it is important to include contact information, including a phone number and email address.
We look forward to including your event in future posts at Rett Syndrome Announcements.

Rett Merger: It's Official

Here is the official news. We pledge our full assistance to this newly formed organization and look forward to great things for the Rett Syndrome Community and we look forward to hearing more from IRSF about their plans.

OFFICIAL PRESS RELEASE:

FOR IMMEDIATE RELEASE

June 27, 2007

CONTACT: Chuck Curley

781-762-2240

781-301-1718

International Rett Syndrome Association and Rett Syndrome Research Foundation Complete Merger Combined Operations of Leading Rett Syndrome Organizations Will Lead to Enhanced Research, Treatment and Advocacy Programs

(Cincinnati, Ohio June 27, 2007) - The International Rett Syndrome Association (IRSA) and the Rett Syndrome Research Foundation (RSRF), the world’s two leading Rett syndrome organizations, announced today that all approvals necessary to effectuate their merger had been obtained. The merger, approved unanimously by both boards of directors and by over 99% of the voting members, will be effective on June 30, 2007. The combined entity, known as The International Rett Syndrome Foundation (IRSF), will continue to focus on research, family services and advocacy related to the treatment and cure of Rett syndrome.

Today marks the beginning of a new era in the search for cures and treatments of Rett syndrome and related disorders, said Kathryn Kissam, Chairman of the board of IRSF. =B3A unified Rett syndrome community is better prepared to help advance the science and serve the families affected by Rett syndrome.

Chuck Curley will be the Executive Director of IRSF. The combined entity will build upon the success of both organizations, said Curley. We look forward to expanded cutting-edge research programs and innovative family services. I am hopeful that together we can accelerate treatments and cures while advocating for needs of affected individuals and families.

About Rett Syndrome

Rett syndrome is a neurological disorder which predominately impacts girls. While there are nearly 4,000 known cases of Rett syndrome in the United States, the disorder is genetically linked to more widespread neurological disorders such as autism, mental retardation and schizophrenia. Rett Symptoms begin to manifest between the first six to eighteen months of life and eventually incapacitates the affected children so that they cannot survive without constant care. The disorder causes seizures, respiratory and gastrointestinal abnormalities, and a variety of muscular and motor impairments.

About IRSA

The International Rett Syndrome Association (IRSA), founded in 1984, is the world’s oldest and most comprehensive non-profit organization dedicated to providing thorough and accurate information about Rett syndrome, offering informational and educational family support, and stimulating research aimed at finding the cause of Rett syndrome and methods for its prevention, control and cure. The Association has members in all 50 states and 72 foreign countries. For more information please visit www.rettsyndrome.org, or call 1-800-818-RETT.

About RSRF

The Rett Syndrome Research Foundation was founded in late 1999 by a passionate group of parents who were committed to funding research aimed at finding treatments and a cure for Rett syndrome. Today RSRF is the world's leading private funder of Rett research. In the last five years RSRF has funded 104 projects at premiere institutions totaling over $11 million. The foundation has proven to be fiscally responsible by directing 97% of each dollar donated directly to program services and was awarded Charity Navigator’s prestigious 4-Star rating. For more information please visit www.rsrf.org, or call 1-513-874-3020.

Rett Press: Major Donation to Benefit Texas Children's Neurological Research Institute

HOUSTON (June 19, 2007) – Texas Children’s Hospital today announced a $500,000 donation from Enbridge Energy Company, Inc. to benefit the Texas Children’s Neurological Research Institute, the world’s first dedicated pediatric neurological research facility. 

“This generous gift propels Texas Children’s Hospital’s efforts to perform groundbreaking research that is designed to lead to innovative treatment options for the millions of lives affected by neurological disorders,” said Dr. Huda Zoghbi, director, Texas Children’s Neurological Research Institute. “The Enbridge contribution is timelier than ever with nearly 450 million people worldwide affected with neurological diseases, 14 million of whom are America’s youth. This gift will not only lead to advances that will help patients with neurological disorders, but will serve as an investment in the future of our children.”  

The number of people afflicted by neurological disorders such as Rett syndrome, Down syndrome, autism, cerebral palsy, epilepsy and learning disabilities is on the rise.  These diseases are estimated to exceed half a trillion dollars annually in healthcare expenditures, lost productivity and related economic costs.  Brain-related disorders account for the majority of our nation’s long-term care costs and, when combined with psychiatric disorders, account for more hospitalization and prolonged care than almost all other diseases combined.

“Enbridge is committed to supporting key health initiatives in the North American communities where our employees live and work,” said Stephen J.J. Letwin, managing director, Enbridge Energy Company, Inc.  “We are proud to invest in this innovative neurological facility at Texas Children’s Hospital, which is pioneering cutting-edge research and treatment advances that ultimately benefit children worldwide.”

Houston is the headquarters for Enbridge’s worldwide natural gas transportation businesses and for two of Enbridge’s three U.S. publicly traded entities, Enbridge Energy Partners, L.P. and Enbridge Energy Management, L.L.C.

Texas Children’s Hospital, one of the top pediatric organizations in the world, recently announced that it is investing $1.5 billion over a four-year period in initiatives to secure its role as a pre-eminent pediatric institution and to anticipate the future of children’s health regionally, nationally and internationally. This is the largest expansion program ever by a single children's hospital.

The planned initiatives, all of which are targeted for completion by 2010, focus largely on research and accessibility, two areas which the Texas Children's board and its leadership believe are the keys to rapidly translating science into quality clinical care for children, as well as making that quality care accessible to all patients. Major projects include the creation of a comprehensive neurological research institute, the formation of a maternity center, expansion of existing research facilities and the development of one of the largest pediatric hospitals in a suburban setting

“This investment is not about buildings; it is about the responsibility we as a leader in pediatrics have to accelerate the translation of research into effective treatments,” said Mark A. Wallace, chief executive officer of Texas Children’s Hospital. “Corporate partners like Enbridge make it possible for us to commit the necessary resources to change the lives of countless children and families, in Houston and throughout the world.”

The Texas Children's Neurological Research Institute will be the first comprehensive pediatric neurological research center of its kind in the world devoted to collaborative, unified efforts to understand the unique issues of the child’s brain structure, development patterns and related diseases.

The institute will combine research, treatment and education, assisting families with children suffering cognitive disorders and scientists committed to finding treatments and cures. Additionally, because so much of this work will be done using genetic models of neurodevelopmental and neurodigenerative diseases, it is anticipated that findings will have a major impact on adult diseases such as Alzheimer and Parkinson diseases.

About Texas Children’s Hospital:
As one of the nation's largest pediatric hospitals, Texas Children's Hospital is renowned for its expertise and breakthrough development in the treatment of cancer, premature infants, cardiogenic disorders, diabetes, asthma, HIV/AIDS and attention-related disorders.   Since opening its doors in 1954, the Texas Children's Hospital has cared for more than 1 million children from every corner of the world and has had more than 2 million patient encounters a year.  Internationally recognized, the hospital is ranked in the top five among children's hospitals by both Child and U.S. News and World Report. 
 
About Enbridge Energy Company, Inc
Enbridge Energy Company, Inc., is an indirect wholly owned subsidiary of Enbridge Inc. of Calgary, Alberta and is the general partner of Enbridge Energy Partners, L.P. (www.enbridgepartners.com) (the “Partnership”), which owns and operates a diversified portfolio of crude oil and natural gas transportation systems in the United States. The Partnership’s principal crude oil system is the largest transporter of growing oil production from western Canada. The system's deliveries to refining centers in the U.S. Midwest account for approximately 12 percent of total U.S. oil imports; while deliveries to Ontario, Canada satisfy approximately 60 percent of refinery demand in that region. The Partnership's natural gas gathering, treating, processing and transmission assets, which are principally located onshore in the active Mid-Continent and Gulf Coast area, deliver more than 2 billion cubic feet of natural gas daily. Enbridge Energy Management, L.L.C. (www.enbridgemanagement.com) manages the business and affairs of the Partnership and its sole asset is an approximate 14 percent interest in the Partnership. For more about Enbridge in the United States, go to www.enbridgeUS.com.

Rett Events: RSRF 2007 New York Picture a Cure Benefit

June 28, 2007 is the night of the big fundraising event of the year for the Rett Syndrome Research Foundation and this year marks its 5^th year in New York City. Rett Syndrome fundraisers all over the world can learn a great deal about successful event fundraising from how this event is staged and promoted. The event is conducted at a premier location, honoring a well-regarded individual, and is conducted by an outstanding Benefit Committee. 

The event is a reception and auction held at the famed Sotheby’s auction house, featuring live entertainment, fantastic food and an incredible silent and live auction.

RSRF’s honoree for this event is Mr. Ric Clark, President and CEO of Brookfield Properties. Brookfield Properties is an office property corporation that owns, develops, and operates premier assets in the downtown core of high-growth North American cities. Brookfield Properties' buildings define the skylines in many major metropolises including New York, Boston, Washington, D.C., Los Angeles, Houston, Toronto, and Calgary.

For more information about this event, please visit the Rett Syndrome Research Foundation website at RSRF.org.

 

 

 

Rett Press: Year-round special education program may end

Source

Grand Rapids Press, Grand Rapids, MI, circulation 133,000

Excerpt

Progress comes slowly for Maiya Novitsky, a 4-year-old with Rett syndrome. Her parents consider just maintaining her current level of ability an accomplishment. But her father, Scott Novitsky, said he is worried Maiya -- and other students with severe disabilities -- will regress dramatically if she is denied year-round schooling because of a proposed change in state Education Department rules.

"We can see that she's learning and making gains," Novitsky, of Walker, said. "But if we're told that she has to take the summer off, they're going to have to go back and redo everything in the fall. I just don't know why they would want to do that."

But educators and special education advocates said the proposed change, which would bring the state in line with national standards, should not hinder students who truly benefit from extended time in the classroom.

Article Link

Year-round special education program may end (opens in new window)

Publisher’s Note

This is a good example of how to use a topic that is of current interest to a wider audience to get the word out about Rett Syndrome. The issue in Michigan is that legislators are proposing that a child’s Individual Education Planning (IEP) “committee” be the determining body as to whether a child would receive an extended school year education. Currently that is a mandate in Michigan for all students in special education programs, but legislation would change this. The challenge with this is that it creates a situation whereby the IEP team may end of voting on the issue to reach consensus and the parent usually has just one vote, compared with the school district representatives who form a majority of members on an IEP team. The only recourse if a parent disagrees with the District on any education related issue is to file a costly and lengthy appeal, called a “Fair Hearing”, with an Administrative Law Judge.

Kudos to Scott Novitsky for getting the word out about Rett Syndrome to an audience of 133,00 subscribers and for making the general public aware of this vital educational need.

RSRF and IRSA merge to form the International Rett Syndrome Foundation

Publisher’s note:

This is exciting news for the entire Rett Syndrome Community! As members of IRSA and long time supporters of RSRF, we look forward to being of service to this newly combined organization. Here is the press release in its entirety:

News Release:

Monday, June 04, 2007

Rett Syndrome News Release For Immediate Release June 4, 2007 Contact: Kathryn Kissam 804.741.3687 804.519.6231 kkissam@comcast. net International Rett Syndrome Association and Rett Syndrome Research Foundation Announce Merger Agreement to Form International Rett Syndrome Foundation New Organization to Focus on Research, Family Support, Awareness and Advocacy Cincinnati, Ohio - The International Rett Syndrome Association (IRSA) and the Rett Syndrome Research Foundation (RSRF) today announced the intent to merge their organizations to form the International Rett Syndrome Foundation (IRSF). "The rapid increase in scientific knowledge and pace of innovation in the field of Rett syndrome research and treatment call for increased coordination, increased funding and the development of a solid, comprehensive research repository," said Kathryn Schanen Kissam, chairman of the board of IRSA. "By joining forces, we are able to combine the unique expertise of IRSA and RSRF to better serve the individuals with Rett syndrome and their families." "Both RSRF and IRSA have made significant contributions to the advancement of understanding in Rett syndrome," said Steve Gallucci, chairman of the board of RSRF. "We are looking forward to the many opportunities that will develop from the merging of our organizations and our mutual determination to make a meaningful difference in the lives of those who have been touched by Rett syndrome." The merger, which has been unanimously approved by both organizations' boards, is expected to close around July 1 following the completion of appropriate due diligence and a two-thirds vote of approval by IRSA's members. IRSA will declare a special membership meeting to be held at IRSA's offices on June 27 at 9:00 a.m.; a proxy vote will be mailed to all members on June 4. "I applaud the members of the governing boards of IRSA and RSRF for their hard work and due diligence at this pivotal point in the history of Rett syndrome. It has been my privilege to initiate the Rett syndrome movement, and my greatest honor to see others who share the same determination and passion join the cause," said Kathy Hunter, president and founder of IRSA. Hunter, who will retire from her full-time staff position with IRSA when the merger is complete, will continue to work for the new organization in a part-time position as Ambassador, continuing to provide ongoing support services to families. The core mission of IRSF will be to fund research for treatments and a cure for Rett syndrome and to enhance the overall quality of life for those living with Rett syndrome by providing information, programs and services. IRSF will also place great importance on advocacy and raising awareness about individuals with Rett syndrome so the scientific and medical communities, along with policy-makers, educators, caregivers and the general public, are better informed about Rett syndrome and motivated to help research efforts.  Chuck Curley, the executive director of RSRF, will be the future executive director of IRSF. Curley cited the critical progress made by a recent landmark study, in which the symptoms of Rett syndrome (RTT) were reversed in a genetic mouse model, as one example of the types of critical research IRSF will support in the future.  "Continuing research to find a cure and treatments for Rett syndrome is absolutely imperative, but also expensive," Curley said. "This merger empowers us to leverage significant revenue growth created by shared fundraisers, collaborative minds, broader resources and combined best practices to create one strong, unified leader in the search for a cure while providing support services to families impacted by this disorder." The IRSF board of directors will be formed with six people chosen by IRSA's board and six chosen from RSRF's board. Kissam will serve as chairman of IRSF. As noted, Curley will serve as Executive Director of IRSF. Other executive staff appointments include Monica Coenraads, who will serve as Biomedical Research Director, and Paige Nues, who will serve as Family Support Director. IRSF's executive offices will be located at the RSRF location in Cincinnati, Ohio, with family support services operating from IRSA's offices in Clinton, MD. IRSF's web site will be www.rettsyndrome. org. About Rett Syndrome Rett syndrome is a neurological disorder which predominately impacts girls. While there are nearly 4,000 known cases of Rett syndrome in the United States, the disorder is genetically linked to more widespread neurological disorders such as autism, mental retardation and schizophrenia. Rett symptoms begin to manifest between the first six to eighteen months of life and eventually incapacitates the affected children so that they cannot survive without constant care. The disorder causes seizures, respiratory and gastrointestinal abnormalities, and a variety of muscular and motor impairments. About IRSA The International Rett Syndrome Association (IRSA), founded in 1984, is the world's oldest and most comprehensive non-profit organization dedicated to providing thorough and accurate information about Rett syndrome, offering informational and educational family support, and stimulating research aimed at finding the cause of Rett syndrome and methods for its prevention, control and cure. The IRSA's mission is to provide a better future for girls with Rett syndrome. The Association has members in all 50 states and 72 foreign countries. For more information please visit www.rettsyndrome. org, or call 1-800-818-RETT. About RSRF The Rett Syndrome Research Foundation was founded in late 1999 by a passionate group of parents who were committed to funding research aimed at finding treatments and a cure for Rett syndrome. Today RSRF is the world's leading private funder of Rett research. In the last five years RSRF has funded 104 projects at premiere institutions totaling over $11 million. The foundation has proven to be fiscally responsible by directing 97% of each dollar donated directly to program services and was awarded Charity Navigator's prestigious 4-Star rating. For more information please visit www.rsrf.org, or call 1-513-874-3020.

Rett Events: 3rd Annual West Michigan Rett Syndrome Research Golf Tournament

Date

Sunday, June 10, 2007

Location

The Meadows Golf Club, Grand Valley State University, Allendale, Michigan

This "must play" in Grand Rapids has played host to several NCAA events and you can see why. A "beautiful course that is well maintained" the "links-style" layout boasts a "wonderful rotation of holes" that have "a little bit of everything".

Charities Supported

Link: Rett Syndrome Research Foundation

Tournament Sponsors

• The Huge Show, Nationally syndicated weekday sports talk show -- pro, major college, hot topics.
• Brann’s Steakhouse Grille, featuring “the best food in the world” at seven Western Michigan locations, along with Brann’s Catering, and Brann’s Wedding & Conference Center. Brann’s has recently opened 2 new locations in Eastern Michigan. Sports bar atmosphere featuring steak, Mexican, and seafood.
• Benshaw Advance Controls & Drives, the world leader in the design, development and manufacture of mission critical motor controls and drives.
• Phase III Graphics, providing fine print and graphic design services for businesses throughout Michigan. They’ve built their business with old fashioned values... providing quality service at reasonable prices.

Summary

This event is to raise public awareness of Rett Syndrome and to raise much needed funds for Rett Syndrome Research. The Tournamnent is a four-person scramble event followed by a dinner celebration.

Tournament Details

Link: Rett Michigan Golf Tournament Brochure

Schedule of Events

• 11:30 AM – Registration
• 1:00 PM – Shotgun Start
• 4:30 PM – Social Hour
• 5:45 PM – Dinner, Awards, Prizes

Event Cost

Golf and Dinner Celebration Package (Includes golf, cart, practice balls, dinner, and door prizes)

• Single: $85
• Foursome: $430

Dinner Celebration and door prize entry only: $35

Entry Deadline

All tournament and dinner entries must be in by June 4, 2007

Event Contacts

Scott Novitsky

(616) 821–6706

E-Mail Contact

Rett Press: New Rett Syndrome fundraising idea? Tats for Rett

Wishful Inking May Be a World Record

Source

Cleveland Plain Dealer

17 May 2007

Article Summary

Willoughby, OH, USA

After 42 hours, 26 minutes and 4 seconds of tattooing, Marshall Olsen and Adam Kemp declared triumph. The friends decided they had broken the record for the world's longest tattoo session, according to Guinness World Records. They collected donations, so far about $900, for the American Cancer Society and the International Rett Syndrome Association.  "We just wanted to do something to get ourselves recognized, as well as do something for the community," said shop owner Aaron Eisenberg, 27. "Everyone at some point has been affected, indirectly or directly, by cancer." The American Cancer Society knew of no similar fund-raisers, in Ohio anyway.

Publisher's Note

This article from Cleveland lifted our spirits and reminded us there are many ways to raise funds for the most worthy cause of supporting those with Rett Syndrome. This is not your typical fundraising event. As with any fundraiser, however, the benefits often extend far beyond the actual money raised. The uniqueness of this fundraiser managed to catch the attention of an editor at one of America's top 20 newspapers, thereby bringing significant attention to Rett Syndrome. Now if we can only get these guys an invitation to a late night talk show this may really be a success from a publicity standpoint.

Note that while the article mentions that one of the recipients they raised funds for is IRSA, the author did not include any comment from an IRSA representative. This illustrates the need to keep the organization you are supporting apprised of your efforts so they can be prepared to comment to the press when opportunities such as this arise.

Rett Syndrome Magazine plans to include a new Rett Fundraisers section to highlight  Rett Syndrome fundraising successes, big and small, from throughout the world. Our goal is to enable others in the worldwide Rett Syndrome Community to learn and apply the same ideas in their individual communities.

Please submit the basic information about your fundraising efforts and successes at our Contact page and we will get back to you for more details. Thanks for your continued support in making Rett Syndrome Magazine the fastest growing Rett Syndrome resource on the planet.   

Rett Press: Rett Syndrome Advocate and Fundraiser Lands UK Television Hosting Contract

Background

Coleen McLoughlin is the fiancée of Manchester United and England Football (soccer) star Wayne Rooney. The media interest in Rooney has enabled Coleen to become a celebrity in her own right. She regularly appears in the English tabloids.

In 2004, Coleen officially launched the countdown to the national Jeans for Genes Day. Her little sister Rosie has Rett Syndrome and the Rett Syndrome Association UK is one of the benefiting charities of Jeans for Genes Day.

Article Summary

Coleen McLoughlin has been signed as a presenter for ITV in an exclusive two-year deal.

The fiancee of Manchester United and England footballer Wayne Rooney is to host a number of day time and peak time programmes for ITV1 and ITV2 between now and 2009. Her first project is an ITV2 series made by television company Initial. Coleen's Real Women will see her on a mission to find naturally beautiful women for genuine high profile modelling assignments

Source

Petersfield Post  13 May 2007

Petersfield, Hampshire, UK

Rett Press: Girl with Rett Syndrome Denied A Public Education

Source

Chicago Daily Herald, May 12, 2007

Editor and Publisher's Note

As two people who have met Lindsey and spent time with this fine young woman, this news saddens us greatly. Our prayers go out to Lindsey and the entire Ross family. In addition to being great parents, the Ross's are strong and spirited leaders in the Rett Syndrome Community in Illinois and Internationally.

Diane and Mick Ross deserve our praise and kudos for making such a valiant effort and costly investment to make a difference in Lindsey's life and those throughout the Rett Syndrome Community. This Federal court ruling is a major step back for people with Rett Syndrome who seek simply to learn, express themselves, and make friends among their peers. In our opinion Lindsey Ross deserves better consideration and we urge Federal lawmakers to act immediately to change the laws to correct injustices such as this.their hands. It also slows growth of the head and often causes seizures. However, Ross also has been evaluated as having “average or close to average” intelligence.

What do you think about this story?

This would be a good time to send an email with a link to this story and your comments to your U.S. Senator and Congressional Representative:

U.S. Senate Link

U.S. Congress Link

We'd like to hear your thoughts about this story. Please post them by clicking on the comments link below.

Rett Press: Autism rates rise, but so do hopes

Schools reach out with innovative treatment plans

Source

Detroit Free Press May 6, 2007

Based on feedback provided by Scott Novitsky of Walker, Michigan, USA, father of Maiya (4 RTT).

Excerpt

The increase in autism cases is creating challenges for public schools across metro Detroit that are charged with providing a free education to all children, even if that means they have to treat a disability before a child can learn. Because insurance companies rarely cover costly therapies and programs for children with autism, the schools are often their only source of treatment. And the schools are searching for new approaches to reach them.

While public schools are the main provider of resources and treatment for children with autism, there is no consistency in the availability or quality of programs from one district to the next because Michigan does not mandate what schools should do for these children. In 2005-06, Michigan's public schools spent $93.5 million on programs just for children with autism. That money is on top of what the schools pay special-education teachers, psychologists, social workers and others who also deal with children with autism.

For parents who are not happy with their local district's offerings, the only alternative is making their way through a maze of costly programs and medical treatments. Scott Novitsky of Walker considers himself one of the fortunate few. His insurance helps pay the small army of professionals treating his 4-year-old daughter, Maiya. She has Rett syndrome, a severe form of autism. She does not speak, has gastrointestinal problems and has no control of her hands. She suffers from uncontrollable repetitive movements and uses a wheelchair. "The insurance companies wanted to pawn everything off on the school system," Novitsky said. His goal is to keep Maiya from regressing. If she makes gains, that's even better. "We're going to just enjoy the time we have with her and keep her happy," he said. "And hopefully the cure will come."

Rett Advocate: Juli Wilson Marshall: 1959 - 2007

Chicago lawyer who represented a child with Rett Syndrome for free drowns during a triathlon fund raiser for the Leukemia and Lymphoma Society

Source

Chicago Tribune on line edition, May 5, 2007

Summary

Mrs. Marshall, of Lake Forest, died Wednesday, May 2, of what medical professionals said was an accidental drowning. Competing in a triathlon Sunday in St. Petersburg, Fla., she was found in the water during the 0.93 mile swim, local officials said. Mrs. Marshall, 48, was rushed to a nearby medical center where she later died. Mrs. Marshall entered the race through Team in Training, a program that raises money for the Leukemia and Lymphoma Society, something that made sense to those who knew her.

"I think it was her passion for life, the way she cared about anybody who was underprivileged," said Robin Hulshizer, a close friend and colleague. "One of the things that troubled her most was that there were kids that weren't in the position of privilege that her children had."

Those children included Lindsey Ross, a northwest suburban high school student suffering from Rett Syndrome, a rare neurological disorder. Mrs. Marshall read an article about Lindsey, who was fighting over her civil and educational right to stay in high school with other students, and called the girl's mother, Diane Ross. She asked if she could represent Lindsey in court, for free.

"I was blown away by the fact that a complete stranger wanted not only to help Lindsey, but in such a big way and with such a big heart," said Diane Ross of the ongoing case. "She was so passionate about wanting to be Lindsey's voice in court."

Rett Press: Big Bucks: Novartis focusing on rare diseases such as Rett Syndrome

Source

Forbes Magazine, May 21, 2007 edition

Summary

"For years big drugmakers ignored rare diseases. Now Novartis aims to reap billions of dollars by focusing on them. Rare diseases were long relegated to the backwaters of the drug business, targeted by tiny biotech companies, if at all, and often ignored by drug giants in their search for billion-dollar franchises. But Novartis is in pitched pursuit of some of the more obscure maladies in the world."

The article indicates that "Novartis has compounds in preclinical tests that target Rett syndrome, a rare inherited brain disorder".

Link

http://forbes.com/forbes/2007/0521/060_print.html

Rett Syndrome Fundraiser: Cape Cod Strollathon

Event

3rd Annual Cape Cod Strollathon

Date

Saturday, June 2, 2007

Location

South Yarmouth, Massachusetts, USA

Starts at Laurence MacArthur Elementary School

1175 Route 28, South Yarmouth.

Event Timetable

Registration begins at 8:45 a.m.

Strollathon begins at 10:00 a.m.

More Information

Contact Jennifer Endres at 508-394-3011 or capecodstrollathon@yahoo.com

Press Coverage

Rett Syndrome breakthrough just what the doctor ordered

http://www.townonline.com/barnstable/homepage/x301605418

Rett Syndrome Fundraiser: Elk Grove, IL April 28, 2007

Date

Saturday, April 28, 2007

Location

Busse Woods, Elk Grove, IL, Grove #5-16 (Enter of Higgins Road -Rt. 72 - just west of Arlington Heights Road)

Registration Information

On site registration is available. For more information please call Diane Ross at (847) 524-7540.

About This Event

From the serious runner to the recreational runner, to family members and friends of all ages the Run For Rett is an event you don’t want to miss. Make a difference in the life of those affected by Rett Syndrome; join us for the Run For Rett 5K Run/Walk & 1 Mile Fun Run.

The Cause

The mission of the International Rett Syndrome Association is to support and encourage medical research to determine the cause, treatment and cure for Rett Syndrome, and to provide informational and emotional support to families of those with Rett Syndrome.

Schedule of Events

7:00 am Race day registration and packet pick-up
8:30 am 5K Run/Walk
9:15 am 1 Mile Fun Run/Walk

Perks

ChampionChip Timing
Scenic course through the Forest Preserves.
T-shirts for the first 250 participants.
Post race activities include music, food and awards.

Packet Pick-Up
You can pick-up your packet on Saturday, April 28, 2007 at the Pre-registration Area beginning at 7:00 am.

Awards

Awards will be given to the top male and female overall finishers and to the top three male and female finishers in the designated ten year age divisions.

Timing & Results

The Run For Rett will use the ChampionChip timing system. Each participant will receive an envelope containing their timing chip. You must wear the chip on your shoe in order to be timed. No chip no time. You are responsible for returning the chip immediately after the race. Participants will be charged $30 for any lost or damaged chips. Overall results will be posted on race day. Complete results will be posted at www.chicagoaa.com

Source

www.rettsyndrome.org

Rett Syndrome Fundraiser: Boston DKNY Shopping Event

Event Date

May 3, 2007

Location

DKNY Store, Boston, MA, USA

Summary

On May 3, join Boston Herald fashion writer Jill Radsken at DKNY (37 Newbury St.) for an evening of cocktails, hors d’oeuvres and shopping. It’s all to benefit the Rett Syndrome Research Foundation and goes down from 6 to 9 p.m. Shoppers can score 15 percent off all purchases during the event, and DKNY will donate 15 percent of proceeds to the Foundation. RSVP at events@dkintl.com.

Source

http://theedge.bostonherald.com/styleNews/view.bg?articleid=196503

An explanation for another familial case of Rett syndrome: maternal germline mosaicism

Abstract

Rett syndrome (RTT; OMIM#312750) is a severe neurodevelopmental disorder that affects mainly girls. It has an estimated incidence of 1:10 000–15 000 females. Mutations in the X-linked gene methyl CpG-binding protein 2 (MECP2) have been found in most patients.

The most accepted explanation for the sex bias is that the Rett mutation in sporadic cases has its origin in the paternal germline X chromosome and can thus only be transmitted to females. The majority of cases are sporadic (99.5%) but some familial cases have been described. These cases can either be explained by germline mosaicism or by asymptomatic carrier mothers with skewing of X-inactivation towards the wild-type MECP2 allele.

We describe one of the few familial cases of RTT in which a maternal germline mosaicism is the most likely explanation. The mutation p.Arg270fs (c.808delC) was identified in both a girl with classical RTT and her brother who had the severe neurological phenotype usually described in males. The mutation was absent in DNA extracted from blood of both parents.

These type of events must be taken into consideration in the genetic counselling of families after the diagnosis of a first case of RTT in a female or a MECP2 mutation in a male.

Researchers

Margarida Venâncio¹, Mónica Santos², Susana Aires Pereira³, Patrícia Maciel² and Jorge M Saraiva¹

1. ¹Serviço de Genética Médica, Hospital Pediátrico de Coimbra, Coimbra, Portugal
2. ²Instituto de Ciências da Vida e da Saúde (ICVS), Escola das Ciências da Saúde, Universidade do Minho, Braga, Portugal
3. ³Serviço de Pediatria, Centro Hospitalar de Vila Nova de Gaia, Portugal

Correspondence: Professor JM Saraiva, Serviço de Genética Médica, Hospital Pediátrico de Coimbra, Av Bissaya Barreto, 3000-075 Coimbra, Portugal. Tel: +351 239 480 638; Fax: +351 239 717 216; E-mail: j.saraiva@hpc.chc.min-saude.pt

Publication

European Journal of Human Genetics advance online publication 18 April 2007; doi: 10.1038/sj.ejhg.5201835

Received 29 September 2006; Revised 8 March 2007; Accepted 17 March 2007; Published online 18 April 2007.

Abstract Source Link

http://www.nature.com/ejhg/journal/vaop/ncurrent/abs/5201835a.html

Researchers discover gene that causes Noonan Syndrome

Summary

ScienceDaily.com reported today that in the April 19, 2007 Issue of Neuron researchers from the Hospital for Sick Children and University of Toronto report the discovery of the genetic malfunction that causes a form of mental retardation called Noonan Syndrome (NS).

NS is a relatively common genetic disorder, occurring in one of every 2,500 live births. It is characterized by congenital heart defects, short stature, learning disabilities, and mental retardation.

The researchers speculated that “genetic perturbations such as those seen in NS, or perhaps even in more commonly studied disorders such as Rett Syndrome, might first perturb cell genesis, and then this might in turn alter many later aspects of neural development, ultimately resulting in impaired circuitry and cognitive dysfunction.”

Story Link

http://www.sciencedaily.com/releases/2006/10/061018151037.htm

U.S. Congressman pushes for national clearinghouse on autism

Summary

The Pittsburgh Post-Gazette reported today that on April 17, 2007 U.S. Rep. Mike Doyle introduced a bill that would provide $350 million to improve services for people with autism, creating a national "clearinghouse" for research and information on treatments.

The newspaper quoted Mr. Doyle as saying that "a long-term goal is finding a cure for autism spectrum disorder, a group of developmental disabilities -- including Asperger's syndrome and Rett syndrome."  He went on to say "but in the interim, the government needs to help families gain access to treatments that help manage the illness. They know that with love and support, individuals with autism can flourish. he government has consistently failed to provide them with the services they need."

Story Link

http://www.post-gazette.com/pg/07108/778784-84.stm

Equipment Alert: Rett Syndrome patient finds joy on therapeutic AmTryke

Story Link

The Shreveport Times

Product Links

Organization Link

AMBUCS A charitable service organization in 18 states in the US dedicated to creating mobility and independence for people with disabilities.

Clinical Trial: Clinical and Immunological Investigations of Subtypes of Autism

Purpose

The purpose of this study is to learn more about autism and its subtypes (including Rett Syndrome). Autism is a developmental disorder in which children have problems with communication and social skills and display restricted interests and repetitive behaviors.

This study has several goals. One aim is to look at types of autism that are known, such as the regressive subtype, (where skills are lost). We will explore whether there is a unique change in immune functioning related to this subtype. Another aim is to serve as one of the sites that will pilot a larger natural history study, entitled Autism Phenome Project. The goal is to further understand autism by identifying other subtypes.

We will look at several types of medical issues that may be related to autism, including immunologic problems. Children will be followed over the course of several years. We aim to capture medical problems that may be related to autism as they develop, and study outcomes in areas such as behavior and language, in order to explore known and new subtypes of autism.

Normally developing children (aged 1-6) and children with autism (age 1-6), developmental delays other than autism (age 2-6), or Rett's disorder (age 1-4) may be eligible for this study.

Depending on each child's study group and age, participants may undergo the following tests and procedures:

Baseline Visit

• Medical and developmental history, physical examination, psychological, cognitive and medical tests to assess symptoms of autism or other developmental disorders, photographs of the child's face, collection of hair, urine and baby teeth samples. If available, hair samples from the baby's first haircut and from the biological mother's hair are also collected.
• Overnight electroencephalogram (EEG; for children autism developmental delays and Rett Syndrome): A special cap with electrodes is placed on the child's head to measure brain waves (brain electrical activity) while the child sleeps in the hospital overnight. Healthy volunteers do not undergo this procedure.
• Magnetic resonance imaging (MRI) scan: The child stays in the scanner, lying still for 10 to 15 minutes at a time. Since it may be difficult for the child to lie still, the test may be scheduled for a time when the child is likely to be sleepy, or the child may be sedated.
• Lumbar puncture (for some children in the autism, developmental delay and Rett Syndrome groups). This test may be done under sedation.

Follow-Up Visits

Follow-up visits are scheduled at different intervals, depending on study group, age and aspect of the study the child is enrolled in. The visits include a short interview session with the child's caregiver and assessment of the child's development and behavior. Some of the assessment measures used during the baseline examination are repeated, including symptoms ratings, behavioral tests and a blood test. For some children, the final visit will include repeats of the medical procedures.

Study Type: Observational
Study Design: Natural History

Official Title: Clinical and Immunological Investigations of Subtypes of Autism

Further study details as provided by National Institutes of Health Clinical Center (CC):

Expected Total Enrollment:  250

Study start: February 2006

The current investigation will focus on the interrelationship between regression in autism and immune dysfunction. We propose to conduct a longitudinal natural history study that will result in a sample of 50 children with autism and strictly defined regression, 50 children with autism and no history of regression, 50 typically developing children, and 25 children who meet criteria for Rett's Disorder (a genetic disorder in which children have autistic features with clear regression). Subjects will be 12-48 months of age at study entry in order to capture regression as close to its onset as possible. Systematic prospective evaluations will be utilized in order to provide validation to the phenomenon of regression in autism, determine diagnostic and functional outcomes, and evaluate behavioral, medical and immunologic functioning. These evaluations will include comprehensive medical history, behavioral assessment, physical and neurologic examination, sleep EEG, structural MRI, blood work for laboratory assays, and for some children, lumbar puncture. In an investigation of potential immunologic abnormalities and associated neuroinflammation, repeated assessments are necessary to determine whether both behavioral and/or immunologic parameters are due to state versus trait alterations: elements of these assessments will be conducted every 6 to 12 months, depending on the child's age.

Our objective is to determine if there is a unique alteration in immune function among autistic children with a regressive clinical course. Our primary hypothesis is that at least some children with regressive autism will have abnormalities in immune function. These abnormalities will not be found among autistic children without a regressive course nor will they be found among children without an autistic spectrum disorder. Our specific aims are:

Specific Aim #1: To characterize and validate the regressive phenotype in children with autism.

Working hypothesis: Children with the diagnosis of autism who had a regressive clinical course can be reliably distinguished from children with non-regressive autism, Rett's Disorder and healthy children. When compared to children with non-regressive autism, the history of children in the regressive group will consist of similar or higher skill levels prior to regression, and lower skill levels following regression.

Specific Aim #2: To characterize the immune response in children with autism.

Working Hypothesis 2a: Distinct immunologic responses and cytokine abnormalities will be evident in children in the regressive autism sample, but not in the non-regressive autism, Rett's Disorder, or typically developing samples.

Working Hypothesis 2b: MRI scans will reveal regional neuroinflammation among children in the regressive autism sample, but not in the non-regressive autism, Rett's Disorder, or typically developing samples.

Specific Aim #3: To identify neurobiologic markers for autism through the techniques of metabolomics, proteomics and genomics (e.g. gene expression profiles).

Working hypothesis: These neurobiologic markers will reliably differentiate between regressive autism, non-regressive autism, Rett's Disorder, and typically developing children.

In addition, although progress has been made in identifying children affected by autism, little attention has been paid to the different manifestations of autism (or autisms). As has been demonstrated in "diabetes" and "cancer", it is expected that the differences between individuals with autism may be as informative as their behavioral similarities. Complementing this study that investigates one possible subtype (regression), we propose to pilot a phenomenologic investigation to identify other biological and behavioral subgroups of autistic individuals, in order to facilitate investigations of etiology, pathophysiology, treatment and prevention. The present investigation thus includes a pilot study to evaluate feasibility of conducting a large-scale, multi-site longitudinal investigation of 1,800 children (600 children with autism, 600 healthy controls, and 600 children with developmental delays). The protocol has been approved by the UC-Davis IRB (see attachments) and the study is currently underway at the M.I.N.D. Institute in Sacramento, California. NIMH is an ideal second site for the protocol, because of the overlap between the design of this regression study with their Autism Phenome Project. Children participating in 06-M-0102 will be invited to participate in this study; if interested, their data will be entered into the Phenome study. The age at study entry for the Phenome study (2 - 6 years) is slightly older than the original regression study, so we will recruit up to 25 children with autism and 25 age-/sex-matched healthy controls to this investigation. In addition, as many as 25 children (ages 2 - 6 years) with developmental delays (without autism) will be recruited as contrast subjects.

Eligibility

Ages Eligible for Study:  1 Year   -   6 Years,  Genders Eligible for Study:  Both

Accepts Healthy Volunteers

Inclusion Criteria

The sample at study endpoint will contain 50 children diagnosed with idiopathic autism and regression (AUT-R), 50 children diagnosed with idiopathic autism (and no history of regression; AUT-NR), 25 children with Rett's Disorder (RTT) and 50 typically developing children (TYP), matched on ethnicity, sex, chronological age and daycare enrollment. Matching for daycare setting (home versus setting with other children) will be attempted due to the potentially greater immunologic challenge experienced by children in daycare settings. The age range of all groups will be between 12 and 48 months at first visit. We will over-recruit for children in the 12-36 month age range, in order to maximize participants of the age when regression associated with the autism diagnosis is most likely.

The Phenome Project Pilot will also enroll an additional 25 children with autism and 25 age-/sex-matched healthy controls, aged 2-6. In addition, as many as 25 children (ages 2 - 6 years) with developmental delays (without autism) will be recruited as contrast subjects.

Regression will be defined as:

Language loss: Loss of at least 3 spontaneously meaningful words (excluding mama or dada) used for at least a month, and lost for at least a month.

AND/OR

Nonverbal communication/social loss: Loss of more than one nonverbal communicative behavior (e.g. gestures, joint attention, eye contact, imagination, pretend play, sharing, showing, watching children, orienting to name, social smiling, social games, spontaneous imitation of actions, response to social overtures).

Autism groups (AUT-R & AUT-NR): Children with a diagnosis of autism or referral from professional with concerns of a diagnosis of autism will be evaluated with the ADI-R and ADOS. Those meeting research criteria for autism will be included.

Although there is overlap in the age period for regression specified in this protocol (regression between 15-30 months) and that described for childhood disintegrative disorder (CDD) (the DSM-IV criteria for CDD indicate apparently normal development for the first 2 years after birth), the criteria for CDD also indicate a diagnosis can only be made if symptoms are not better accounted for by another pervasive developmental disorder such as autism. Symptoms of CDD that separate it from autism include loss of acquired skills in areas such as motor skills and bowel or bladder control, while the focus of the current study is on regression in core symptoms of autism (i.e. socio-communicative skills). Thus, the current protocol will include children with regression over 2 who meet criteria for autism, but not those who only meet criteria for CDD.

Rett's Disorder group (RTT): Positive genetic screen for MeCP2 genetic mutation.

Typically Developing control group (TYP): No diagnosis of developmental delay and no first-degree relatives with history of developmental problems.

Developmental Delay group (DD): Developmental scores (Performance Quotient and Verbal Quotient) greater than 1.5 standard deviations below mean on Mullens Scale of Early Learning

Exclusion Criteria:

1. Known genetic defect (e.g. Fragile X, Down Syndrome, Tuberous Sclerosis, etc.). The Developmentally Delayed group may include children with such defects.
2. Significant prematurity at birth (less than 32 weeks gestation); birthweight significantly below normal for gestational age (SGA- small for gestational age); or diagnosis of cerebral palsy.
3. If behavioral management issues (e.g. self-injury, aggressiveness) are severe to the extent that the screening protocol was aborted.

Location and Contact Information

Please refer to this study by ClinicalTrials.gov identifier  NCT00298246

Patient Recruitment and Public Liaison Office      (800) 411-1222    prpl@mail.cc.nih.gov
TTY      1-866-411-1010

Locations: United States

California
University of California, Davis, Davis,  California,  95616

District of Columbia
Childrens National Medical Center, Washington,  District of Columbia

Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike, Bethesda,  Maryland

Johns Hopkins University, Baltimore,  Maryland

Tennessee
Vanderbilt University, Nashville,  Tennessee

More Information

Study ID Numbers:  060102; 06-M-0102
Last Updated:  March 9, 2007
Record first received:  March 1, 2006
ClinicalTrials.gov Identifier:  NCT00298246
Health Authority: United States: Federal Government

Clinical Trial: Rett Syndrome Natural History

Study Purpose:

Rett Syndrome (RTT) is a genetic brain disorder that occurs almost exclusively in females and is usually caused by a change (mutation) in the gene MECP2. The disorder is characterized by multiple developmental problems, as well as behavioral symptoms, such as repetitive stereotypic hand movements, including hand washing, wringing, and tapping. While there is no cure for RTT, recent advances in the understanding of the disease suggest that the development of new, effective therapies is promising. This study will gather information on the genetic defects that cause RTT, the physical expressions of these defects, and disease progression. In turn, this may direct the development of future treatments.

Study Type: Observational
Study Design: Natural History, Longitudinal, Defined Population, Retrospective/Prospective Study

Official Title: Rett Syndrome Natural History

Expected Total Enrollment:  1100 Study start: March 2006

RTT is a brain disorder that causes problems with childhood development. It is usually caused by an abnormality (mutation) in the gene MECP2. RTT can cause severe impairments in movement and communication skills, including talking and social interaction. The first signs of RTT include loss of acquired speech and loss of purposeful hand use for activities such as eating or playing. Individuals may also develop abnormal walking, repetitive hand movements, such as clapping or wringing, and abnormal breathing while awake.

Effective treatments for RTT are currently lacking. There is also inadequate information about the link between RTT’s clinical features and its genetic basis. In order to prepare for future clinical trials that may lead to effective therapies, it is important to collect accurate information about the characteristics of RTT and the pattern of disease progression. This study will gather historical and physical examination data to establish phenotype-genotype correlations. Data on survival and quality of life in females with RTT and males with MECP2 gene mutations will also be evaluated.

Participants in this observational study will be recruited from the three sites at which the study is being conducted, as well as through the Rare Disease Clinical Research Network and the International Rett Syndrome Association (IRSA). Prior to study entry, potential participants are expected to be tested for a mutation in the MECP2 gene. No treatment will be administered at any time during this study. Study visits will occur every 6 months until the child is 12 years old and once a year for 5 years thereafter. At each study visit, participants will be examined to assess physical effects of the disease, such as motor behavior and disease severity. Additionally, participants will complete questionnaires about medical history, contact information, and quality of life. The first visit will last approximately 1.5 hours, and every subsequent visit will last approximately 1 hour.

Eligibility

Genders Eligible for Study:  Both

Inclusion Criteria:

• Meets clinical criteria for classic or variant RTT or tests positive for an MECP2 gene mutation

Exclusion Criteria:

• Unwilling or unable to travel to study sites for annual or biannual evaluations

Location and Contact Information

Please tell them you read about this in Rett Syndrome Magazine

Refer to this study by ClinicalTrials.gov identifier  NCT00299312

United States - Study Chair, Principal Investigators

Baylor College of Medicine   

Daniel Glaze, MD      713-798-7388    dglaze@tmh.tmc.edu
Judy Barrish, RN, BSN      832-822-1781    jobarris@texaschildrenshospital.org

Alabama
University of Alabama at Birmingham

Recruiting: Jane Lane, RN, BSN  205-934-1130    jlane@uab.edu 
Alan Percy, MD,  Principal Investigator

South Carolina

Greenwood Genetic Center, Greenwood,  South Carolina,  29646,  United States; Recruiting: Mike Friez, PhD,  Steve Skinner, MD

Ten years of searching and learning

I first learned about Rett Syndrome around ten years ago. A devoted physical therapist mentioned her suspicion that our daughter had Rett Syndrome during a therapy session. The disorder seemed to perfectly describe my two year-old daughter’s apparently imperfect health condition. The best doctors at one of America's finest University hospitals missed the diagnosis altogether because they simply had never heard of Rett Syndrome in 1997. The first night I learned about Rett Syndrome I searched online for more than seven hours.

In my 12 year role as Lydia Long's father I have spent countless hours surfing the web looking for the latest insight and information about how to make a difference in her life. That first night ten years ago I “met” people on-line whom I continue to share close ties with even today. There are many people in the Rett Syndrome Community with much more expertise and experience than me.  Those newer to Rett Syndrome also have a great deal of wisdom and experience to share. Some people have devoted the majority of their personal and professional lives to the same mission of this magazine – to make a difference in the lives of those with Rett Syndrome and those who love them, befriend them, treat them, and otherwise serve them. We believe that important knowledge and expertise about Rett Syndrome should be freely shared. We created Rett Syndrome Magazine with that purpose in mind.

If you would like to share your personal or professional expertise, insight, challenges, solutions, stories, and recommendations as a guest columnist or researcher, please contact us at the link to the left. We also appreciate your patience and feedback as we work to build this online magazine into a valuable resource for all in the Rett Syndrome Community. If you find a dead link, please let us know. If we have erred or offended you in any way, please give us a chance to rectify our mistakes. Stay tuned.

Welcome to Rett Syndrome Magazine

Greetings to all in the Rett Syndrome Community. My name is Greg Long and I am the proud father of Lydia who is a beautiful 12 year-old and a precious young girl. She also has Rett Syndrome.

In addition to being Lydia's father, I am a co-founder and Executive Publisher of Rett Syndrome Magazine whose mission is to share Rett Syndrome related news, information, events, and other happenings of interest to those in the Rett Syndrome Community. My hope is that Rett Syndrome Magazine will eventually become a place for all to share such valuable information and insight with others in the Rett Syndrome Community.

Our goal is to make the lives of those with Rett Syndrome better everyday. Rett Syndrome Magazine was founded with the mission to make a difference in lives of others. We promise to continuously strive to achieve this mission and to earn your trust.

We invite you to contribute to Rett Syndrome Magazine as a volunteer researcher or guest columnist. Please email us if you are interested in being a part of this amazing on-line publishing journey.

We look forward to being of service to you in the years to come. Thanks for stopping by.

Greg Long

Proud father of Lydia Long (11 RS)

Executive Publisher, Rett Syndrome Magazine