Downsyndrome.com

DEAR ABBY: Your readers may have seen articles about a university professor who killed her infant daughter and then days later, herself. The professor said that she killed her daughter, who had Down syndrome, because she “didn’t want her to suffer.”

Far from suffering, people with Down syndrome can live full and meaningful lives. Last month, more than 1,600 parents, professionals, advocates and siblings attended our national convention to celebrate the lives and possibilities of persons with Down syndrome.

People and resources are available in each state to help with concerns related to postpartum depression, other forms of mental illness, and issues related to raising a child with a disability. Please inform your readers with questions related to Down syndrome that the NDSC toll-free hotline is (800) 232-6372; our Web site is www.ndsccenter.org. — DAVID TOLLESON, EXECUTIVE DIRECTOR, NATIONAL DOWN SYNDROME CONGRESS

DEAR DAVID: I …

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A new combination of blood tests and ultrasound can detect fetuses with Down syndrome sooner and more accurately than standard U.S. screening tests, offering mothers-to-be more peace of mind and more time to decide whether to end a pregnancy, researchers say.

The study of 8,216 women at a dozen U.S. medical centers confirms findings in England and elsewhere, where the combination is already widely used.

“It’s earlier by about a month, so we’ve moved the standard testing to the first trimester and improved its accuracy,” said lead researcher Dr. Ronald Wapner, chairman of obstetrics and gynecology at Drexel University College of Medicine in Philadelphia. “The absolute biggest advantage is this allows women to make private decisions” before they are visibly pregnant.

The usual blood screenings done in this country identify up to 75 percent of Down syndrome babies, but do not yield results until about 20 weeks into pregnancy, when abortion is more dangerous for women and often difficult to obtain.

The new combination — two blood tests, ultrasound and the mother’s age — correctly identified 85 percent of fetuses with Down syndrome and yielded results at about 12 weeks.

Nine percent of the time, it incorrectly indicated a fetus probably had Down syndrome.

About one in 800 babies has Down syndrome, the most common chromosomal birth defect. Children with the syndrome suffer mental retardation and deformities such as a broad, flat face, short hands and a small head and ears.

When the four indicators together show a high probability of Down syndrome, women can choose a definitive — and invasive — test. In chorionic villus sampling, cells are withdrawn from the placenta with a needle, usually at 10 to 12 weeks of pregnancy. In amniocentesis, which is more commonly done in this country, fluid is drawn from the amniotic sac with a needle; it is done at 14 weeks or later. Both techniques carry about a 1 percent risk of miscarriage.

The study was reported in Thursday’s New England Journal of Medicine.

Dr. Mark I. Evans, director of the Institute for Genetics and Fetal Medicine at St. Luke’s’s/Roosevelt Hospital Center in New York, said the study will cause a gradual shift from second-trimester screening to this method.

“There have been literally hundreds of thousands of patients evaluated worldwide who confirm these data,” said Evans, president of the Fetal Medicine Foundation of America. “It’s being routinely used all over the United Kingdom, Israel, Brazil and many other countries.”

But in an accompanying editorial, Drs. Michael T. Mennuti and Deborah A. Driscoll of the University of Pennsylvania School of Medicine wrote that second-trimester screening should continue to be the standard until detailed guidelines can be developed for using the ultrasound and other tests.

Because mothers 35 or older have a higher risk of having a Down syndrome baby — one chance in 270 — most get one of the invasive tests.

In addition to looking at the mother’s age, the screening combination tested by Wapner and colleagues looks for low levels of a protein called pregnancy-associated plasma protein A, and for high levels of a type of the hormone human chorionic gonadotropin. The ultrasound test looks for telltale high levels of fluid in the fetus’ neck.

Evans, who has researched the ultrasound test and been using it for a decade, said it is the single best marker of Down syndrome. But he also warned that correctly reading the ultrasound requires specialized training and experience. It is available at some U.S. academic medical centers.

Wapner said doctors might cut in half the number of invasive tests by using the combined screening to correctly identify normal as well as Down syndrome fetuses.

Currently, the screening generally used in this country tests the mother’s blood for unusual levels of a different type of gonadotropin hormone, a protein called alpha-fetoprotein and the hormone estriol, which together are 65 percent accurate. Adding a new test for the hormone inhibin A increases reliability to up to 75 percent.

The new combination of blood tests and ultrasound also proved highly effective at detecting the second-most common of the severe chromosome abnormalities that do not usually kill the fetus, a condition known as trisomy 18.

In trisomy 18, the fetus has three copies of chromosome 18, instead of the normal two, or one each from the mother and father. In Down syndrome, the fetus has three copies of chromosome 21.

Copyright C 2003 Deseret News Publishing Co.
Provided by ProQuest Information and Learning Company. All rights Reserved.

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Byline: Eileen O. Daday The way Nancy MacDonald of Arlington Heights sees it, she did nothing heroic. From the time her daughter was a toddler she read to her daily, so she was not surprised when she learned to read before starting first grade. The fact her daughter, Katie, had Down syndrome made it significant.

In fact Katie would go on to be the first child with Down syndrome in Arlington Heights to be mainstreamed into a regular classroom, based in large part, her mother says, on her eagerness to read and her teachers who recognized that. "Back in those days everyone …

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OBJECTIVES: The purpose of this study was to determine the validity and reliability of the RCCT with individuals diagnose with Down Syndrome (DS). METHODS: Thirty-nine individuals diagnosed with DS completed the Wechsler Adult Intelligence Scale (WAIS) and two Reality Comprehension Clock Tests (RCCT) five to seven days apart. RESULTS: Criterion-related validity was strong between the WAIS and RCCT with a coefficient of .80. Additionally, the RCCT was able to discriminate between the American Association for Mental Disorders classifications (p

KEY WORDS: Alzheimer’s Disease; Assessment; Clock Tests; Dementia; Down Syndrome; Mental Retardation; Reality Orientation.

Down Syndrome (DS) (trisomy 21) is one of the most serious birth defects affecting 1 case per 1,000 births (Centers for Disease Control [CDC] 1991). DS is the most common cause of mental retardation in North America. Individuals with DS have a life expectancy that has increased from 8 years in 1929 to 45 years in 1989. A study of individuals with DS living in British Columbia reported that over 50% live into their 50’s, 40% to age 60 and 13% to age 68 (Baird & Sadovnick, 1989). Individuals with DS are more likely to show declines in functioning after reaching age 50 than are adults with mental retardation (MR) from other etiologies (Zigman, Schupf, Zigman & Silverman, 1993).

DOWN SYNDROME AND THE LINK TO ALZHEIMER DISEASE

One of the most serious problems with increased lifespan in individuals with DS has been the appearance of Dementia of the Alzheimer Type (DAT). DAT is a growing health problem and is the leading cause of death among elderly people (Crocker, 1988). DAT is a chronic degenerative disorder that causes premature senile dementia. The development of dementia in mid-life is an increased source of mortality and morbidity for individuals with DS. Improved medical care and the creation of community programs have resulted in a shift in medical care to the community physicians. The influx of DS adults places primary care physicians and health care providers in a situation of “need to know”.

Health care providers “need to know” that the clinical features of dementia in people with DS are similar to dementia in the general population. These changes include; loss of memory, cognitive decline, changes in adaptive behavior, neurological changes and language difficulties (Holland, Hon, Huppert, Stevens & Watson, 1998). Declines in functioning of individuals with DS has been attributed to the presence of Alzheimer disease (AD) neuropathology which has been found on autopsy in virtually all cases over 40 years of age (Mann, 1993). While significant AD like changes are observed as early as 30 years of age, prevalence rates of clinical dementia characteristics of AD begin to escalate in the fourth and fifth decade of life. Even without dementia, adults with DS are known to have declining cognitive function (Das, Divis, Alexander, Parrila & Naglieri, 1995). Thus, it is suggested that early signs of dementia may be detected by approved exams that discriminate between individuals with DS and non-DS beginning at age 40 (Das & Mishra, 1995). When assessing DS and AD, several molecular and clinical similarities have been detected. The most noteworthy is the hyperproduction of B-amyloid in the brains of individuals affected with AD as well as aging DS individuals followed by dementia. Also, individuals with AD exhibit dermatoglyphic patterns similar to those in DS (Petronis, 1999). Other molecular researchers have found that DS adults with apolipoprotein E3/4 and 4/4 genotypes are four times more likely to develop AD symptoms compared to those with the 3/3 genotype (Schupf et al., 1998). Although this is known, it does not answer when or why dementia manifests, or if its progression can be slowed with any interventions.

One difficulty in detecting dementia in individuals with DS is the lack of standardized measures to detect dementia. A second difficulty in detecting AD in individuals with DS is due to pre-morbid intelligence performance on standard cognitive instruments. Thus, signs of early DAT may go unrecognized in adults with MR. The clinical symptoms and signs of early disease are frequently missed because of limited communication skills and memory loss. Therefore, it has been suggested that testing include individuals who are of a sufficiently high level of functioning and apply more sensitive diagnostic measures that will provide for a closer association between neuropathology and early signs of AD. To detect dementia, tests should include the use of tasks that involve articulation, planning and attention rather than coding of simultaneous and successive (visuospatial, auditory) information (Das & Mishra, 1995).

REALITY COMPREHENSION CLOCK TEST (RCCT)

To determine if early signs of aging and/or dementia could be detected the Reality Comprehension Clock Test (RCCT) can be used to assess subtle changes in memory and overall cognitive functioning. RCCT was designed to assess reality orientation and comprehension by asking individuals to draw a clock while looking at a sample picture of a clock (Figurel). The RCCT consists of four functional categories that measure Number Awareness, Visual Spatial Functioning, Visual Task Performance and Orientation/Memory. The individual verbally receives instructions to complete the drawing that will, in the end reproduce the clock photo that they reviewed. Points are awarded for the duplication. Administration of the test is 10 - 30 minutes. Thus, the RCCT was used in this study.

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