Downsyndrome.com

Clinical Question: What is the most accurate screening approach for detecting Down syndrome during pregnancy?

Setting: Outpatient (specialty)

Study Design: Cohort (prospective)

Synopsis: Several approaches to screening for Down syndrome during pregnancy have been advocated. This is the report of the First- and Second-Trimester Evaluation of Risk (FASTER) Trial, designed to compare several approaches directly. Women (n = 38,167) were enrolled if they had singleton pregnancies with crown-rump length by study ultrasonography consistent with gestation of 10 weeks and three days to 13 weeks and six days. First-trimester risk was calculated on the basis of nuchal translucency and two serum markers, pregnancy-associated plasma protein A and the free beta subunit of human chorionic gonadotropin (i.e., combined screening). The optimal age for first-trimester screening was 11 weeks’ gestation. Second-trimester risk was calculated at 15 to 18 weeks’ gestation using serum alpha fetoprotein, total human chorionic gonadotropin, unconjugated estriol, and inhibin A, together with maternal age (i.e., quadruple test).

Biochemical markers were converted to multiples of median and adjusted for maternal weight and race. A single reviewer scored all nuchal translucency images at the main study site. Patients were given results after the second-trimester screening results were available. Screening was considered positive when the calculated risk of Down syndrome was one out of 150 for first-trimester testing and one out of 300 for second-trimester testing. Amniocentesis for karyotyping was offered if first- or second-trimester screening results were positive. Sensitivity and specificity were calculated for different test combinations. There were 117 patients with Down syndrome in the cohort. In 7 percent of patients, a satisfactory nuchal translucency image was not obtained. The costs of testing approaches were not compared.

Bottom Line: The most accurate screening approach was sequential testing, which detected 95 percent of patients with Down syndrome with a 2.5 percent false-positive rate. The process: perform combined screening during the first trimester. If the screening result is positive, offer genetic testing; if negative, perform the quadruple test in the second trimester, and then offer genetic testing if that yields a positive result. Fully integrated testing (second-trimester quadruple test plus first-trimester nuchal translucency) is almost as accurate (95 percent detection and 4 percent false-positive results). The skill of the ultrasonographer in measuring nuchal translucency is key to these approaches. (Level of Evidence: 1b)

LINDA FRENCH, M.D.

Study Reference: Malone FD, et al. First-trimester or second-trimester screening, or both, for Down’s syndrome. N Engl J Med November 10, 2005;353:2001-11.

Used with permission from French L. Sequential testing most accurate for Down’s syndrome. Accessed online December 27, 2005, at: http://www.InfoPOEMs.com.

COPYRIGHT 2006 American Academy of Family Physicians
COPYRIGHT 2008 Gale, Cengage Learning

[Read more →]

LOS ANGELES — Peter Ligouri, President of FOX Broadcasting Network, will lock out the word "retarded" from Fox Productions, according to Lawrence Jacobs, General Counsel of Fox Entertainment Group and News Corp in New York, in a response to the Down Syndrome Association of Los Angeles (DSALA).

Public demand has brought FOX to this decision. The National Down Syndrome Society in New York received phone calls from concerned parents about a promo airing during FOX’s top grossing show "American Idol" for the upcoming comedy series "The Loop." The promo included the statement "you have a retarded squirrel look on your face." NDSS alerted Gail Williamson, Executive Director of the DSALA and long-time media advocate for people with disabilities. Williamson contacted Jacobs, who had come to her aid on a previous media issue. Jacobs’ concern got the studio to pull the promo, but was told it was too late to re-edit the first episode of "The Loop," due to premiere on Wednesday, March 15th following "American Idol."

The National Down Syndrome Society (NDSS), the National Down Syndrome Congress (NDSC) and the Arc of the U.S. have fought this fight before but never has a studio heard and responded to their concerns with such a definitive response. Jacobs reported that Ligouri felt if the use of the word offended a group of people this much it should be left out of any program they produce. Williamson and the DSALA have been campaigning to keep the word "retarded" from being used in the media to slam someone or something for many years. She reported, "The word exists on the medical charts of over 2 million people worldwide trying to fit into their communities and participating in education, employment, living, worship and recreation opportunities; it is extremely dangerous to use it as a derogatory term. This casual use of the word meant to offend can escalate to isolation, segregation and even abuse of people with intellectual disabilities."

Jon Colman, NDSS Acting Director, applauded Ligouri for this groundbreaking decision. "NDSS is pleased with Fox’s response and hopes that other studios and networks will review how their Standards and Practices Departments govern the use of the word as well," said Colman.

COPYRIGHT 2006 Business Wire
COPYRIGHT 2008 Gale, Cengage Learning

[Read more →]

Alzheimer’s disease and dementia in down syndrome and intellectual disabilities.

Prasher, Vee P.

Radcliffe Publishing

2005

140 pages

$55.00

Paperback

RC523

A consultant neuro-psychiatrist in Birmingham, Prasher (King’s College, London) assembles findings from research and clinical practice with a multi-disciplinary perspective regarding the practical aspects of dementia care for older adults with intellectual disability, particularly those with Down syndrome. He seeks to fill the gap between academic works that tend to neglect a person-centered approach, and clinical experience that may be uninformed about the latest relevant research. Distributed in the US by BookMasters.

([c]20062005 Book News, Inc., Portland, OR)

COPYRIGHT 2006 Book News, Inc.
COPYRIGHT 2008 Gale, Cengage Learning

[Read more →]

The Nicholas Institute of Sports Medicine and Athletic Trauma (NISMAT) is the first hospital-based facility dedicated to the study of sports medicine in the country. It was established by James Nicholas, MD, at Lenox Hill Hospital in New York City in 1973. The goal of the NISMAT physical therapy clinic is to return the injured professional and recreational athlete to his or her chosen sport or exercise. On the excellent NISMAT website, detailed information on various common sports injuries can be accessed (www.nismat.org). Here we take a close look at an extremely common condition in runners: patellofemoral pain syndrome.

Common manifestations of this pain include pain while squatting, sitting in a car or movie theater for long periods, or going up and down stairs. NISMAT reports that some 2.5 million Americans experience this pain, which refers to the joint between the kneecap (patella) and thigh bone (femur). Though it can appear due to malalignment of the patella and femur or from tight structures on the outside of the knee, it often results from weak quadriceps muscles in combination with the stress running creates on the joint.

When people bemoan the loss of the ability to run as they did in, say, college due to knee pain, they often simply need to strengthen their quadriceps muscles (see the strengthening exercises discussed below). The quads are important muscles that support the joint that otherwise takes the brunt of the impact stress due to running.

Patellofemoral pain may be felt behind or around the kneecap, or the knee may feel like it gives way at random. Mild swelling can occur around the knee. Sometimes the knee will make grinding noises upon bending or straightening. The primary goals of rehabilitation from patellofemoral pain syndrome are to re-establish motion, power, and stability to the joint. Often stretching and strengthening are sufficient to alleviate this condition. Be careful not to increase your mileage too quickly, as this is often the cause of and/or reason for exacerbation of the problem. As is often noted, generally, to run safe and injury free, you should not increase weekly mileage by more than 10 percent.

Nonsteroidal anti-inflammatory medication, whether over-the-counter or prescribed, can help decrease the discomfort due to patellofemoral pain syndrome. Consult your doctor before beginning regular use of these drugs. To decrease pain immediately, ice packs can help; a heating pad is beneficial when your symptoms are less acute. Do not apply these treatments for longer than ten-minute sessions.

The following exercises will help you strengthen the muscles in the affected area, taking pressure off the kneecap:

Straight leg raises:

Lying on your back, bend the unaffected knee to stabilize the back. Contract the quadriceps in the affected leg and raise to the level of the bent knee. Hold for a count of one and bring the leg back down. Perform 3 sets of 15 repetitions. You can use an ankle weight to increase your muscle strength as you progress with this and other exercises in this series. A rule of thumb is to begin conservatively with weights equivalent to 20 percent of your body weight.

[ILLUSTRATION OMITTED]

Hip abduction:

Lay on your side with the affected leg kept straight and facing the ceiling. The bottom leg is bent. Keeping the top leg straight, bring your foot toward the ceiling, hold for a count of one, then return the foot. Do not bend your body at the hip. Do not allow your body to roll toward the stomach or back. Perform 3 sets of 15 repetitions.

[ILLUSTRATION OMITTED]

Hip adduction:

Laying on your side, place your affected leg on the bottom. Bend the top leg and keep it behind or in front of the straight leg. Raise the bottom leg and hold for a count of one before returning it to the starting position. Perform 3 sets of 15 repetitions.

[ILLUSTRATION OMITTED]

Hip flexion:

Sit at the edge of a table or chair, back straight and knees flexed. Bring the affected knee toward the ceiling. Hold the leg in this position for a count of one and then return to the starting position. You can use your hands for support on the surface, but do not lean forward or backward. Perform 3 sets of 15 repetitions.

[ILLUSTRATION OMITTED]

In addition to these strengthening exercises, perform the usual hamstring, quadriceps, iliotibial band, and calf muscle stretches after warming up, during cooldown, and throughout the day. Remember to never bounce when you stretch.

(NISMAT Physical Therapy Corner: Patellofemoral Pain Syndrome, 2005, The Nicholas Institute of Sports Medicine and Athletic Trauma at Lenox Hill Hospital, www.nismat.org)

COPYRIGHT 2006 American Running & Fitness Association
COPYRIGHT 2008 Gale, Cengage Learning

[Read more →]