So, they are saying that the initial screening followed with a second round of screening have proved to have a detection rate as high as 84%, the article continues.
Also, integrated screening (combining the results of tests in the first and second-trimesters) has also proved to be valuable in terms of detection of DS during pregnancy. The problem with integrated screening, the article points out, is that there is quite a period of time from the initiation of the testing until completion. But the larger question is, what is a woman to do if indeed her baby has a mis-matched chromosome count? If it is caught early enough, would she consider an abortion? That is a moral and personal privacy issue, of course, but it is worth consideration given the issues that arise for a family with a DS child.
If a pregnant woman is screened properly during her first-trimester, and that test indicates that she is at "increased risk" of aneuploidy she should then be offered genetic counselling as an intervention, the article explains; and she should have the option of CVS (chroionic villus sampling) or at least second-trimester amniocentesis should be offered.
TRANSITIONING INTERVENTION: FROM HIGH SCHOOL to LIFE AFTER HIGH SCHOOL: Should every family with a DS child just assume that after high school that person is going to be home-bound and the family will have to gear up for having him or her around 24/7? Not necessarily at all. Indeed, the National Down Syndrome Society (NDSS) provides a helpful selection of reports for parents, healthcare professionals, and siblings too, outlining and specifying strategies for helping the DS person in the family, and hence, helping the family (and reducing stress levels for everyone involved). The fact of life for a DS patient is that once out of high school, certain educational support services are no longer mandated by federal and state laws. The full responsibility for the coordination of key resources falls in the lap of the family.
All the more reason for good planning. The "Transition Planning" brochure (PDF) provided by NDSS suggests that parents get involved in post-high school planning well before the end of high school. Indeed, beginning at age 14, a "transition plan" is required by law as a part of the Individualized Education Plan (IEP) for any student (with a disability). What opportunities are there for a person with Down syndrome after high school? There are many post-secondary educational opportunities, according to the NDSS brochure, assuming the person is capable of proceeding into an educational career. There are community college academic programs, vocational training programs (apprenticeships and trade schools); and there are "innovative programs" that combine in some form those two kinds of education.
For example, a DS student could take a vocational course like welding, or printing, and while at school, take a class relating to health or history or other subjects of interest to the person. It is important for the parent or family members to intervene in any post-secondary program well in advance, and find out if the school in question (community colleges are generally very flexible and community-friendly for all kinds of students) has the facilities and the educational requirements that are appropriate for the DS student.
If the DS person has the desire to advance into a college environment, the intervention should include a fully updated list of academic and vocational opportunities; knowledge of existing programs and entrance requirements "can help identify specific goals" for the DS student to pursue.
If the DS person wants to find a job after high school, there are several types of employment, NDSS explains. Those are jobs that can be found in the newspaper or discrimination and embarrassing social stigma that are part of life for a child with DS, when a DS child has serious acne and other diseases affecting the skin, that is just one more negative piled on top a long list of negatives.
According to the article, the frequency of alopecia areata (sudden loss of hair in certain patches on the face and scalp) is reported to be "higher" in Down syndrome than in the general population, up to 8.9% higher, in fact. Beyond the hair loss, DS patients experience dermatological conditions such as folliculitis, atopy and vitilgo, along with increased incidence of syringomas, milia-like calcinosis, acanthosis nigricans and elastosis perforans serpiginosa.
An example is given in the article of an eight-year-old DS-inflicted boy who started losing his hair at the age of four; at first the hair loss was patchy, but in the last year or so there has been a progressive hair loss over his entire body. He was born to a woman 35 years of age, and there was an uneventful pregnancy and delivery. But the hair loss was a seriously embarrassing and ugly spectacle and this too is pertinent to a nurse because the research doesn't offer many interventions to provide help for this situation.
But, in this research, the writers record that the boy was first given topical corticosteroids and minoxidil, but there was no improvement on the hair loss. Then, doctors tried him on betamethasone oral mini-pulse therapy (3 mg of betamethasone given on two consecutive days, weekly), along with a treatment of minoxidil 2% lotion. "There was significant regrowth of hair within three months of therapy," the article states. The regrowth of hair was obvious all over his body, in particular the scalp, the eyebrows, and eyelashes. While the boy is visiting his healthcare professions for frequent follow-ups, he feels and looks much better with hair than without.
What is the relationship of this incident to stress on a family with a DS child? It has applications that are very germane because, as was mentioned earlier in this paper, any additional strangeness in terms of a DS person's appearance places more stress on all involved. "Mommy, why am I losing my hair? My friends in the class say I look weird." Those kinds of questions hopefully will not need to be asked with proper intervention into this dilemma.
PREVALENCE of DOWN SYNDROME: "The incidence of Down's Syndrome and Progress Towards Its Reduction [and Discussion]." This is an article in Philosophical Transactions of the Royal Society of London (Mikkelson, et al. 1998) asserts that "Down syndrome is the most common single cause of mental retardation" and hence, it is a major health burden on families and on society. Why do some children get DS? Is it due to the advanced maternal age when a woman becomes pregnant? Is it possibly "delayed fertilization" due to endocrine function failures? If DS can be attributed to advanced maternal age, then the article explains that the "decreasing number of women giving birth at higher maternal ages" in Demark should also be commensurate with a reduced number of DS births, but there has been (at least at the time of this article) no reduced number of DS births.
As to the prevalence of Down syndrome, the National Down Syndrome Society reports (www.ndss.org) that DS happens in about one in every 733 births, and that there are more than 35,000 in the U.S. who have that genetic condition.
THREE RESEARCHABLE QUESTIONS THAT SUPPORT and STRENGTHEN the EVIDENCE for INTERVENTION STRATEGIES PRESENTED in THIS PAPER:
First question: Assuming that he or she is not intellectually prepared for college, what kinds of social activities and group involvement can a person with DS hope to become part of as he or she moves away from formal secondary educational environments?
Second question: What are the ethical implications for a pregnant woman who has been "pro-life" in her political experiences as an adult, but who learns that the fetus she is carrying has a 98% chance of being a Down syndrome child? Should she go ahead with the birth and deal with the consequences and realities that DS families are subjected to?
Third question: Name fifteen creative strategies a nurse or other healthcare professional could pursue in terms of reducing stress on parents and siblings when a DS child is in the family.
Clinician Reviews. (2007). Down syndrome screening expanded (Literature Monitor). 17(2),
Devenny, Darlynne a. (1993). Stress and Parenting. Down Syndrome Today, 2(4), 22-23,
Fey, Marc E.; Warren, Steven F.; Brady, Nancy; Finestack, Lizbeth H.;…
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