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RENO, NEV. — New technologies that can screen through the entire metabolite or protein compliment of a fluid will soon produce both a test that can correctly identify the patient experiencing early contractions who will deliver prematurely, and a maternal blood test perhaps 100% accurate for Down syndrome, predicted two speakers at the annual meeting of the Society for Maternal-Fetal Medicine.

These tests could be ready for the clinic in a few years, the speakers said.

In much the same way that researchers can study genomics to identify all the genes in a particular cell, and RNA transcriptomics to identify specific genes being expressed in a cell, it is now possible to study proteomics and even metabolomics, to profile all the biochemical components of a given cell, organ system, or fluid in hopes of identifying specific biomarkers for a given condition.

Using that technology, investigators have now identified a profile of amniotic fluid that predicts which patients who go into premature labor with intact membranes will deliver early and therefore warrant tocolysis, said Roberto Romero, M.D., chief of the perinatology research branch of the National Institute of Child Health and Human Development.

Dr. Romero said he and his coworkers profiled 186 metabolites from the amniotic fluid taken from 115 women who were having premature contractions, and were able to find a group of carbohydrates that correctly identified those who actually delivered preterm with 88% accuracy. The women who delivered early had low concentrations of this group of carbohydrates, while those who did not deliver had high concentrations.

The profile correctly identified 39 of 40 patients who delivered at term, 29 of 33 patients who delivered early but had no evidence of intraamniotic inflammation, and all 42 of the patients who delivered early and had evidence of inflammation.

The individual carbohydrates in the group are not unique in any way. Dr. Romero said, and he speculated that they are fetal products.

Dr. Romero declared no personal financial conflict of interest with regard to the study, but the National Institutes of Health has applied for a patent based on the team’s findings.

In another presentation, Mary D’Alton, M.D., said she and her colleagues took maternal serum from 50 Down syndrome-affected pregnancies and compared it with serum from 50 unaffected pregnancies, and have been able to identify a group of six proteins that when combined as biomarkers can pick up Down syndrome with 100% accuracy.

Two of these protein biomarkers are overexpressed in Down syndrome cases and four are underexpressed, and this pattern is present in both the first and second trimesters, said Dr. D’Alton, director of the division of maternal-fetal medicine at New York-Presbyterian Hospital, New York.

Most of these proteins have not previously been known to be associated with Down syndrome, and none of them are products of the expression of genes on chromosome 21, she added.

Dr. D’Alton’s study was supported by the NIH and ProteoGenix Inc. of Portland, Ore.

BY TIMOTHY F. KIRN

Sacramento Bureau

COPYRIGHT 2005 International Medical News Group
COPYRIGHT 2008 Gale, Cengage Learning

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BEVERLY HILLS, Calif. — The National Down Syndrome Society (NDSS) and the Down Syndrome Association of Los Angeles (DSALA) honored eight actors for their contribution to awareness and acceptance of individuals with Down syndrome. Honorees included Bill Smitrovich, Chris Burke, Andrea Friedman, Blair Williamson, Louise Brown, Kristine Johnson, Christine Young and Brad Silverman. Actors John C. McGinley (SCRUBS) and Robert David Hall (CSI) were on hand to present the awards and reflect on the accomplishments made by the actors.

John C. McGinley, star of SCRUBS, father of a 7-year-old son with Down syndrome, and National Spokesperson for the annual NDSS Buddy Walks that take place across the U.S., presented the VISION Award to Bill Smitrovich. Smitrovich spent 4 seasons on the ABC series LIFE GOES ON as the admirable dad Drew Thatcher. As the head of the Thatcher family, Smitrovich parented three children, one of whom, Corky (played by Chris Burke), had Down syndrome. Smitrovich embraced his role as the "ultimate" father figure of a child with Down syndrome and made himself available to many who lived the role daily. He made time from his personal life to promote public awareness and acceptance of the genetic condition. Some years later, Smitrovich played an expectant father of a child with Down syndrome in an episode of the CBS episodic TOUCHED BY AN ANGEL; that episode touched hundreds of thousands of families as well.

Actor Chris Burke, best known for his role on LIFE GOES ON, has continued to work as an actor on shows like PROMISED LAND, TOUCHED BY AN ANGEL, THE COMMISH, ER and more. As the NDSS Goodwill Ambassador, Burke travels all over the country promoting awareness through personal appearances. Burke, a resident of New York, was presented with the VOICES Award along with 6 other actors with Down syndrome who reside in Los Angeles.

Andrea Fay Friedman, also best known for her work on LIFE GOES ON, continues to work consistently and was nominated for an Emmy Award for her guest starring role on LAW AND ORDER: SVU. Friedman is a very active public speaker and returned from an engagement in New York just in time to receive her honor. Actors Louise Brown, Kristine Johnson and Christine Young have all had co-starring roles on NBC’s drama ER. The three women also speak to community groups on Down syndrome, represent Special Olympics and have received many other awards for their personal accomplishments.

Actor Brad Silverman first appeared as a recurring character on QUANTUM LEAP, which lead to a co-starring role with Sean Penn in the feature film I AM SAM. Most recently he co-starred with Larry David on the HBO series CURB YOUR ENTHUSIASM. Blair Williamson, who has co-starred on ER, has been a murder victim on CSI and guest-starred on THE GUARDIAN, is currently working on the feature thriller UNKNOWN, starring Jim Caviezel, Greg Kinnear and Joey Pantoliano, for release in 2006.

Actor Robert David Hall, who plays the quirky coroner Dr. Albert Robbins on CSI: CRIME SCENE INVESTIGATION, and recurred on LIFE GOES ON as high school teacher Mr. Mott, was on hand to sum up the accomplishments of the actors. As the National Chairman of the Screen Actors Guild, AFTRA and Equity Performers with Disabilities Committee, and as a working actor with a disability (Hall walks on two prosthetic legs with the assistance of an arm crutch), he knows how difficult it can be to be seen as an actor for a role and not just as a character who shares the same disability. Hall remarked, "Blair Williamson’s role on UNKNOWN as the custodian is a break out role for actors who have Down syndrome. The role was originally written as a character who had survived a head injury and not someone with Down syndrome. Casting director Shannon Makhanian brought in Williamson for an audition and he was cast in the role. We need more creative people in Hollywood who see the bigger picture. Why can’t someone with Down syndrome play the sister, brother, customer, clerk and more? These roles in television and film bring about awareness and acceptance for individuals with Down syndrome and others who live their daily lives with disabilities."

About NDSS

The National Down Syndrome Society is a nonprofit organization representing the more than 350,000 Americans who have this genetic condition. NDSS is committed to being the national leader in supporting and enhancing the quality of life, and realizing the potential of all people with Down syndrome. NDSS demonstrates this commitment through their education, research and advocacy initiatives that benefit people with Down syndrome and their families. http://www.ndss.org or 800-221-4602

About DSALA

The Down Syndrome Association of Los Angeles is a non-profit organization who provides resources, services and support to individuals with Down syndrome and their families in Los Angeles. Committed to enhancing the lives of these individuals, they reach out to the entertainment industry by providing a national casting liaison service for actors with Down syndrome and other intellectual disabilities, and expert consultation and referrals to productions including Down syndrome in their stories. http://www.dsala.org or 818-242-7871

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WHO:    Awards host John C. McGinley (SCRUBS) and guest Robert David
        Hall (CSI) will honor Actor Bill Smitrovich, (LIFE GOES ON)
        with the VISION Award for his support and advocacy work on
        behalf of individuals with Down syndrome. William Mobley, MD,
        PhD, of the Center for Research and Treatment of Down Syndrome
        at Stanford will also be honored with a VISION Award. The NDSS
        and DSALA will be honoring 7 professional actors who have Down
        syndrome with VOICES Awards. The honorees include: Chris Burke
        (LIFE GOES ON, THE COMMISH, STRONG MEDICINE), Andrea Friedman
        (LIFE GOES ON, WALKER TEXAS RANGER, 7th HEAVEN, LAW AND ORDER:
        SVU), Blair Williamson (ER, CSI, THE GUARDIAN), Kristine
        Johnson (ER), Christine Young (ER), Louise Brown (ER) and Brad
        Silverman (QUANTUM LEAP, I AM SAM, CURB YOUR ENTUSIASM).

WHAT:   NDSS and DSALA Spring Luncheon and fundraiser benefiting
        individuals with Down syndrome and their families. The event
        will include a silent and live auction and raffle, as well as
        a report from Dr. Mobley on his current research.

WHERE:  The Beverly Hills Hotel, 9641 Sunset Blvd. Los Angeles

WHEN:   Tuesday, April 12, 11:30 AM Reception, 12:30 Lunch

VISUALS:

        Red carpet arrivals, celebrity interviews (other celebrity
        attendees will be updated as they confirm).

MEDIA:  Please RSVP by phone or email

               Down Syndrome Association of Los Angeles
     315 Arden Avenue, Suite 25, Glendale, CA 91203 - 818-242-7871
                             www.dsala.org

COPYRIGHT 2005 Business Wire
COPYRIGHT 2008 Gale, Cengage Learning

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In 1866, Dr. John Landon Down first published his work on a group of people with mental retardation under his care in Surrey, England. He described the physical features as resembling people from the Mongoloid race. Use of "mongoloid" to describe those with the syndrome has fallen out of favor, and now Down Syndrome (also seen as Down’s Syndrome, either is correct) is routinely used.

Down Syndrome (Trisomy 21) is the most common human chromosomal abnormality. Humans have 46 chromosomes, however those individuals with Down Syndrome have 47 chromosomes. Instead of two number 21 chromosomes, they have three. One might think, "more would be better." However, this additional chromosome adversely affects the delicate balance known as the human genome.

The extra chromosome is located in every single cell of the body and causes a host of physical and mental problems. Most of us recognize the physical appearance of Down Syndrome: flat facial features, up-slanted eyes, short stature, and protruding tongue. However, there are numerous other physical abnormalities of Trisomy 21. Some of them include heart disease, hearing loss, crossed-eyes (strabismus), thyroid disease, leukemia, obesity and seizures. The mental problems of Down Syndrome include retardation and a significant likelihood of developing Alzheimer Disease after the age of 40.

Some individuals are known as mosaics; half of their cells are normal and the other half has 47 chromosomes. Although they have Down Syndrome, these mosaics have a milder case. For instance, intelligence may be higher and the typical features may not be as prominent.

Down Syndrome is now frequently diagnosed in pregnancy with a combination of tests. A "triple screen" tests for a specific protein in the mother’s blood. This test, however, frequently comes back elevated when the feetus is, in fact, normal. Cells collected from an amniocentesis and chorionic villi sampling is the only way to know with certainty whether your child has any chromosomal abnormality. These tests are more invasive than the blood tests and do carry more risks.

Trisomy 21 has a higher incidence of occurrence in babies born to women over 35, with an incidence of 1 in 270, compared to an incidence of I in 1500 in those ages 15-39 and I in 800 in those ages 30-34.

If a child has Down Syndrome, there are certain things that have to be done to ensure the health and best possible outcome for a baby:

(1.) Evaluation by a cardiologist to rule out congenital heart disease

(2.) A hearing test to check for hearing loss

(3.) Enrollment in an early intervention program to help with coordination and issues related to muscle tone

(4.) Screening for neck instability, especially prior to sports participation

(5.) Early screening for cataracts and glaucoma

The outcome for those with Down Syndrome depends on the presence of other associated findings. Barring other complications, people with Down Syndrome can live well into their 60s.

Like most situations that occur in life, the outcome of your experience with a Down Syndrome child will depend on your approach. If you perceive your child as a burden, this indeed will come to pass. If you accept the joys and frustrations that come with raising a Special Needs child, you will be blessed.

For further information contact the National Down Syndrome Congress at www.ndsccenter.org/.

Sophia Grant, M.D., F.A.A.P. is a practicing pediatrician in Southern California. She owns and operates the website www.MomtoMomPediatrics.com, emphasizing practical parenting and pediatrics.

COPYRIGHT 2005 Pediatrics for Parents, Inc.
COPYRIGHT 2008 Gale, Cengage Learning

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FLORENCE, ITALY — More than 60% of children and young adults with Down syndrome had notable skin and mucous membrane conditions in a study presented at the 13th Congress of the European Academy of Dermatology and Venereology.

"With increasing survival of Down [syndrome] cases, physicians must be more aware of the skin findings seen so frequently in this genetic disorder," said Maryam Daneshpazhooh, M.D., a dermatologist at Razi Hospital in Tehran, Iran.

The presence of furrows that are found on the dorsal surface of the tongue, called fissured tongue or scrotal …

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