Study Will Examine How Children with Down Syndrome Learn

Researchers at the University of Denver (DU) Morgridge College of Education are conducting a groundbreaking study that will compare two early literacy intervention approaches to educating young children with Down syndrome. The Rocky Mountain Down Syndrome Educational Fund is funding the study, which hopes to improve teaching methods for children with the condition.

Researchers are seeking children in the Denver area, ages 2 1/2 to 5, to participate in the study, which will involve a two-day training session to be held at DU followed by an at-home intervention program in which parents will implement the program with their child for approximately 15 minutes per day for approximately 10 months. There is no cost to participate. Contact Staci Jordan at (303) 871-3465 for information on how children can be enrolled.

"There has been little to no research on how our children with Down syndrome learn, especially regarding reading and language," says Michelle Sie Whitten, executive director of the Anna and John J. Sie Foundation and Advisory Committee Chair of The Rocky Mountain Down Syndrome Educational Fund. "There have been significant breakthroughs in terms of how children with other developmental disabilities learn, and I strongly believe that our kids deserve the same attention."

The result of this pilot study, Whitten says, could have a profound effect on the academic achievement of children with Down syndrome. An international team of experts has contributed to the study, including Sue Buckley, a chartered psychologist in England with more than 30 years of experience in the field of developmental disabilities.

"What is so exciting and unique about this particular study is that scientifically based research on early learning intervention has been translated into applied research in areas such as autism, but never before in Down syndrome research," says Karen Riley, assistant professor of Child, Family and School Psychology at DU, and the key investigator driving the pilot study. "In addition, we are attracting researchers for this study who have expertise in other developmental disabilities, and we are applying their knowledge to Down syndrome."

This study was initiated by The Rocky Mountain Down Syndrome Educational Fund. It is underwritten by a $130,000 gift from The Rocky Mountain Down Syndrome Educational Fund, $10,000 from the McDonnell Foundation and $10,000 from the University of Denver. The researchers working on this study have been trained by Buckley, who is one of the world's leading researchers in the education and development of children with Down syndrome.

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Early Pregnancy Screening Cuts Down's Births by Half

Non-invasive screening of pregnant women with ultrasound early in pregnancy, combined with maternal blood analysis, has reduced the number of children born in Denmark with Down Syndrome by 50%, a scientist tells the annual conference of the European Society of Human Genetics.

Professor Karen Brøndum-Nielsen, of the Kennedy Institute, Glostrup, Denmark, will say that another benefit of the introduction of this procedure in her country was a drop in the number of invasive pre-natal diagnostic procedures from 11% to approximately 6% of pregnancies.

In September 2004, Professor Brøndum-Nielsen will tell the conference, the National Board of Health in Denmark recommended new guidelines for prenatal diagnosis. “Previously this was restricted to pregnant women over 35 years of age, but since the implementation of the new guidelines it has been available to any woman who wants it.”

The women were offered a measurement of nuchal translucency in the fetus by ultrasound. This test looks at thickness of the black space (fluid) in the neck area of the fetus. If there is more than the normal amount of fluid the risk of Down syndrome is increased. Likewise if there is a certain combination of serum markers in the maternal blood test, taken at the same time, there is the possibility of an increased risk of a chromosomal abnormality. The combined screening is carried out at 11 to 14 weeks of gestation.

Professor Brøndum-Nielsen and her team looked at the effects of the new guidelines in 2004, 2005, and 2006, in 3 counties in Denmark with a total population of 1.1 million inhabitants, or about one-fifth of the population of the country. They compared these findings with national figures obtained from the Central Cytogenetic Registry, which confirmed the reduction in invasive procedures and the number of children born with Down syndrome at national level.

“When we looked further at the history of children born with Down Syndrome, we found that their mothers had declined the offer of screening, or had taken it up too late in pregnancy”, she says. Another group had risk assessment that did not lead to invasive procedures
Women whose test results showed an elevated risk were offered an invasive procedure (chorionic villus sampling or amniocentesis) to definitely confirm or exclude the diagnosis of Down syndrome by chromosome analysis.

“We found that making non-invasive screening available to all pregnant women meant that the numbers of invasive procedures decreased by 40% between 2004 and 2006”, says Professor Brøndum-Nielsen. “Although we have not yet studied the whole of the population, these numbers are significant enough to show that the new guidelines have been accepted by a great majority of Danish parents. However, there is a need for analysis of the psychosocial aspects, both as to the pre-test counselling and the women´s attitudes”, she says.

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St. Jude Study Yields Secrets of Chromosome Movement

Investigators at St. Jude Children's Research Hospital have used the lowly yeast to gain insights into how a dividing human cell ensures that an identical set of chromosomes gets passed on to each new daughter cell. Errors in this critical part of cell division can cause one daughter cell to get extra copies of some chromosomes that should have moved into the other daughter cell, or no copies of other chromosomes—a problem that is prevalent in cancer and can cause miscarriages or disease, such as Down syndrome.

St. Jude researchers made their discovery by tracking the activity of a small army of molecules with exotic names like argonaute (Ago1) and dicer; these molecules help maintain a specialized, tightly packaged form of DNA called heterochromatin at the part of the chromosome called the centromere. The investigators also showed the order in which certain critical events occur in setting up and maintaining this heterochromatin. The work is important because it gives scientists insight into how each daughter cell receives the normal number of chromosomes; and it offers important clues to understanding the genetic cause of certain catastrophic diseases. A report on this work appears in the May 25 issue of Molecular Cell.

All of the cell’s DNA is wrapped around a series of structures, called histone octamers, to generate chromatin—much like thread wound around a spool. This chromatin is then further compacted to form the characteristic, thick structures commonly recognized in illustrations and photographs as chromosomes. At the centromere, DNA is packaged into an even more compact and specialized form of chromatin called centromeric heterochromatin.

The centromere is the last point at which the two identical chromosomes are joined before the cell divides. Centromeric heterochromatin helps to yoke together the “sister chromatids” of each chromosome pair as they line up in the center of the dividing cell before separating and moving into their respective daughter cells. When the cell has ensured that it is safe to continue dividing, each sister chromatid moves in opposite directions toward the two new daughter cells that are forming.

“The cell must establish and then maintain centromeric heterochromatin to ensure that each chromosome pair is stable and securely linked together until it’s time to separate,” says Janet Partridge, assistant member of the St. Jude Department of Biochemistry. “Otherwise, the chromosome pairs would drift apart and leave daughter cells with too many or too few chromosomes.” Partridge is the report’s senior author.

The St. Jude team studied combinations of molecules in yeast called the RITS and RDRC complexes, which together with an enzyme called Clr4 (Suv39 in humans), establish and maintain centromeric heterochromatin in the yeast cell during a carefully choreographed series of steps.


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