|May 2002 Issue||
Our group meets on the first Friday of every month at 6:30 p.m. at Saint Anthony's Wellness Center in the Alton Square Mall. For driving directions call the Wellness Center at 462-2222.
Enclosed in this issue is the pamphlet, Helping Babies with Down Syndrome Develop Speech and Language by Libby Kumin, Ph.D., CCC-SLP.
STARNet Region IV
May 18. The Down Syndrome Association of Greater St. Louis Second Annual Appreciation Picnic. Location: Knights of Columbus - Dueschene Council - Grounds, Florissant, MO. Door prizes donated by the St. Louis Rams and Albert Pujols. Event schedule: 10:30 - 11:30 Games, D.J. and meet the Rams cheerleaders. 11:30 - 12:30 Lunch. 12:30 - 1:00 Awards Presentation. 1:00 - 2:00 Meet the Rams offensive line. For more information contact the DSAGSL office: (314) 961-2504.
July 5-7. 2002 NDSS National Conference, A Celebration of Community, Opreyland Hotel, Nashville, TN. Presented in collaboration with the Down Syndrome Association of Middle Tennessee. The focus of the conference will be on working together to improve the lives of individuals with Down syndrome, enabling them to enjoy the benefits of, and contribute to, their communities. Three special conference tracks will offer sessions geared towards the particular interests of parents and professionals, teens and adults with Down syndrome and their siblings. Registration: One Adult Family Member: $250.00; Additional Adults from Same Family: $200.00; Person with Down Syndrome (ages 13 and up): $125.00; Sibling (ages 13 - 20): $125.00; Professional: $275.00. For further information contact NDSS at 1 (800) 221-4602 or http://www.ndss.org.
August 23-25. NDSC Annual Convention, Set Your Sights a Mile High. Hyatt Regency Tech Center, 7800 Tufts Avenue, Denver, CO 80237. 1 (800) 233-1234. The convention will feature an exceptional array of presenters including self-advocates, parents with professional expertise, and committed professionals. Keynote speakers: Martha Beck, Ph.D., Glenna Boyce, Ph.D., Karen Gaffney, Gretchen Josephson, Christopher Kliewer, Ph.D. and Sue Swenson. Registration: Individual: $115; Family; $180. Banquet Tickets: Adults: $37; Children: $18. Youth/Adult Conference: $75. Brother/Sister Conference: $75. For further information contact NDSC at 1 (800) 232-NDSC or http://www.ndsccenter.org.
Down Syndrome Articles
Some of the LCN's Recent Research Findings:
Clinical Implications: Dr. Liz Lichtenberger of the Salk Institute's lab has extensive clinical and research experience. She also has an expertise in psychoeducational assessment and advocacy for children with special needs. Dr. Lichtenberger suggests that parents and teachers help children with developmental disabilities, such as Down syndrome, to maximize their potential by using their strengths to compensate for areas that are weaker. Some common areas of strength for individuals with DS are: a sociable nature, an ability to benefit from visual aids and skills on visual-spatial and visual-motor integration tasks. Some common areas of difficulty for individuals with DS are: sustaining attention, hearing loss and using language. The following are Dr. Lichtenberger's suggestions on how some of the Salk Institute's research findings can be used to serve individuals with DS in an academic setting.
Summary: The presentations overall emphasized the importance of active relationships between parents, researchers and educators as they work together to help children with DS realize their full potential.
Down's syndrome lifespan doubles by Emma Young. March 22, 2002. NewScientist.com News Service. © Copyright Reed Business Information Ltd.
The life expectancy of people with Down's syndrome has doubled in 15 years from 25 to 49 years, a new analysis of US data reveals. The research also shows people with the syndrome are much less likely to die from a range of cancers.
"A better understanding of the causes of death in Down's syndrome will lead to longer and healthier lives for people with this condition, and may improve our understanding of how various genes contribute to cancer," says Sonja Rasmussen of the US National Center on Birth Defects and Developmental Disabilities, Atlanta, who was involved in the research.
Rasmussen's team looked at a random 25 per cent sample of all US deaths between 1983 and 1997. They then compared age at death and cause of death with data on all people with Down's syndrome who died during this period.
There are several reasons for the dramatic increase in life expectancy, Rasmussen says. Almost half of all babies born with the syndrome have congenital heart defects, and many of these are severe. Medical treatments for these defects have improved in recent years, she says.
"Also, people with the condition may have been institutionalised in the past. Today, most live in group homes or other facilities in the community," she says.
About one in 800 of live-born babies have Down's syndrome. The condition is caused by the duplication of chromosome 21, resulting in cells with three copies instead of the usual two. Some genes important to normal heart development are located on chromosome 21 - which could explain the high incidence of heart defects in sufferers, Rasmussen says.
But her team found much lower rates of death from many cancers in people with Down's syndrome. Cancers other than leukaemia and testicular cancer were listed as the cause of death one tenth as often as on death certificates of the general population.
The reasons behind this are unclear. But the life expectancy for the US population as a whole is 76.9 years and many cancers are associated with old age. People with Down's syndrome die relatively young.
The likely existence of tumour suppressor genes on chromosome 21 could also be important. "Loss of part or all of chromosome 21 has been observed in several different kinds of tumours," says Rasmussen. "These studies implicate the presence of tumour suppressor genes on chromosome 21."
The UK's Down's Syndrome Association welcomes the report. "While people with Down's syndrome are more prone to certain conditions it is encouraging that the extra chromosome also seems to offer some protection against some cancers," says a spokeswoman.
Journal reference: The Lancet (Vol. 359, p. 1019)
Lifelong Concerns for a Special Child by Neil Genzlinger, New York Times, March 12, 2002.
When Susan Colacello says she is afraid of death, she doesn't mean it in the generic way that most people use the phrase. Her fear is very specific. She doesn't want to die because she worries what will become of her son, Kevin, who has Down syndrome.
"I'm in a group of mothers who have disabled kids, and we all share the same thing," said Mrs. Colacello, 42, who lives in West Windsor, N.J. "We're terrified of dying."
For the parents of disabled children, that is often the essence of retirement and estate planning. There are few idyllic thoughts of golf courses and warm weather, few pleasant musings about who should inherit the family antiques. Instead there is dread, an underlying knowledge that no matter how many arrangements have been made and how much money has been provided, no one will care for a child with Down syndrome or autism or cerebral palsy the way parents have.
That worrying starts early: Kevin is only 3. And it is difficult to escape. Betty Stone of Des Plaines, Ill., also has a son with Down syndrome, but he is 40, and she is 81. "My main concern is the future," said Mrs. Stone, whose husband died six months ago. "That's the big concern for all parents, no matter how old your child is."
There was a time when few parents worried that their disabled children would outlive them. Early intervention and improved health care have changed that. The mean age at death for a person with mental retardation was 18.5 in the 1930's, but by 1993 it was 66.2, one study found.
As longevity was increasing, the notion of placing severely disabled people in large, impersonal institutions was being discredited. In a 1999 study, David Braddock, now at the Coleman Institute for Cognitive Disabilities at the University of Colorado, calculated that almost 480,000 developmentally disabled people were living with family caregivers age 60 or older, with another 1.4 million living with family members younger than 60.
All this has turned estate planning into a financial and emotional maze for parents with disabled children. The government, in its Kafkaesque way, is both godsend and hindrance, providing a safety net but setting out an exacting procedure for any parent who wants to do more than that.
Federal and state programs pay for the basic care of a disabled adult; parents need not fear that their child will end up in the street. But the government generally does not pay for enhancements that parents view as crucial for their children - special camps, visits with relatives, private health insurance, therapeutic recreation like horseback riding and hundreds of other things. And, of course, many parents do not want to leave their disabled child at the mercy of the government, with its ever- changing cast of administrators and fickle budgets.
Yet if the disabled person has more than $2,000 in assets, the government claims them to cover its own costs, so leaving money to a disabled child in a traditional will does nothing. The government, though, has created a way around the $2,000 hurdle: parents can establish what is called a special-needs trust, using life insurance, real estate and other assets to create a fund that can pay for an enhanced life while leaving basic benefits like Supplemental Security Income intact.
Such is the planning gantlet parents of disabled children must run. That's the easy part. Going through the financial planning process, parents say, forces them to confront difficult, draining questions, like: What, exactly, are our child's long- term prospects? Who might be willing to act as guardian? Should we expect our nondisabled children to care for their sibling? What about our own hopes for retirement?
Like many parents, Susan and Albert Colacello put off facing those issues. Kevin makes procrastination easy; he is high-functioning for a child with Down syndrome, active and mischievous.
"You sometimes forget," Mr. Colacello, 40, said the other day, watching the boy wreak havoc in the living room like any other toddler. "And then the reality sets in: someone's going to have to take care of him."
An insistent aunt finally nudged the Colacellos toward a lawyer's office. So did the attacks of Sept. 11.
"We lost a really good friend," Mrs. Colacello said, "and he had his affairs really in order. It made things so much easier for his family." Last month the Colacellos signed documents creating a special- needs trust and establishing guardianship. They achieved a measure of security but lost some dreams. "This is a very necessary thing, but the reality of doing it really shatters your hopes," Mrs. Colacello said. "It's just a constant reminder that Kevin is never going to be able to make decisions."
And, she said, it is often jarringly at odds with the upbeat message that veterans in the world of disabilities use to ease the way for newcomers.
"On the one hand," Mrs. Colacello said, "we're supposed to feel that Kevin didn't change our lives. We're supposed to be positive. But Kevin can't even own anything."
The Colacellos know that the plans they have created will need to be revisited as Kevin ages. One delicate point will be what role his older brother, Christopher, now just 7, will play.
Rosalind and Joe Vargo of Syracuse, at 48, are just a few years older than the Colacellos, but they already have two decades' worth of experience dealing with such issues. Their daughter, also named Rosalind - Ro - is 21 and has Rett syndrome, a little-known neurological disorder that leaves its victims unable to talk and impairs cognition, mobility and muscle control.
Mrs. Vargo has a vivid memory from 20 years ago, when her daughter's disabilities were becoming evident, and a neighbor asked, "When are you going to send her away?" Though that is exactly what many parents were doing then, it was an image Mrs. Vargo could not bear.
"I was having nightmares that Ro would someday die alone in one of those developmental centers," she said. "That's not what we had dreamed, and that's not what we envision, now or when we're gone."
Like the Colacellos, the Vargos put plans in place early, naming a guardian and establishing a trust. "We weren't sure what that meant," Mr. Vargo recalled, "but we did it because we wanted to have something on paper. I don't think we looked at that will again for 10 years."
Eventually, though, they realized that the guardian they had named - Mrs. Vargo's father - was suddenly 75. It's a common problem for parents of older disabled children. Those most likely to serve as guardians are grandparents, aunts or uncles - people who are as old as or older than the parents they would replace.
As Ro reached adulthood, the Vargos were also confronted with their own limitations. A disabled child is served by the public-school system; special education, whatever its quality, at least gives the parents a daily respite. For the parents of a disabled adult who lives at home, however, relief is no longer automatic.
"Suddenly, the little yellow bus wasn't coming anymore," Mrs. Vargo said. "Ro was getting older, and we were getting older. Finally we looked at ourselves and said, `My God, we're going to be 50; we can't do this any longer,' and we began to ask for help."
The Vargos formed what is called a circle of support: a group of family members, friends and professionals who agreed to take collective responsibility for Ro's care. The couple sent out 30 letters to people who they thought might be willing; about a dozen responded.
Particularly gratifying to the Vargos is that Ro's two younger siblings, Josie, 19, and Mary, 16, have become active participants, often running the circle's meetings. The Vargos envision Josie taking over guardianship eventually. And they see themselves in a diminishing role, so that, when they die, Ro will still have a group of people looking out for her welfare. Withdrawing, though, is not easy.
"It's letting go of the decision- making," Mrs. Vargo said. "It's planning without you being the person in charge. I don't think it's an easy journey."
When parents with disabled children peer into the long-term future, they do not often see a leisurely retirement. They may stop working. They may even shift a child's care to a sibling or an institution. But unless they are very well off, they can't see burning resources that could be left for their child's trust fund.
The limitations can be geographic as well. Barbara Grant of Old Bridge, N.J., is only 40 but can see that having two sons with autism will affect her retirement. She emigrated from Jamaica in 1990 when she married a Jamaican who was already in the United States. When it became clear that her boys, now 10 and 8, would have lifelong needs best met in the United States, many retirement dreams evaporated.
"Prior to the autism diagnosis, I saw myself going back to Jamaica, but now that's out of the question," Ms. Grant said. "I will never be able to say, `Oh, now the kids have left home; I can feel free to gallivant.' "
Betty Stone, the 81-year-old in Illinois whose son, Craig, has Down syndrome, has not done much gallivanting in her golden years. When she and her husband, Dale, decided long ago not to institutionalize their only child, the ramifications stretched all the way to retirement. Her husband, an accountant, provided a decent nest egg, but with Craig living at home, there was no thought of years full of travel.
"Dale used to say that all the time, `Don't forget, we're not like other people,' " Mrs. Stone recalled. "We didn't take a vacation after 1990."
Mr. Stone died last summer, and now Mrs. Stone often feels overwhelmed by the demands of caring for Craig. She likened her role to that of a mother with teenagers. She is always, it seems, driving Craig somewhere - to his day program, to a medical appointment. Although she has a 45-year-old friend lined up to take over guardianship some day, she herself wants to make it to 95, just so she can keep an eye on things.
She hopes to leave her condominium to an organization that would provide live-in care for Craig in exchange for the deed, but the instability she has seen in such groups over the years leaves her nervous. Peace of mind remains elusive, she said, even though her husband provided for her and her son financially.
"I'm not hurting that way," she said. "I'm just hurting emotionally. And I'm tired."
Stem Cells Tip Off Genes Disrupted In Down Syndrome by Terry Devitt. URL: www.NewScientist.com Feb. 4, 2002. Reprint permission granted by Syndication Manager Angela.Bourton@rbi.co.uk
Using stem cells as a window to the earliest developmental processes in the human brain, scientists have found that a group of genes critical for brain development is selectively disrupted in Down syndrome.
Writing in the January 26 issue of the British medical journal The Lancet, a team of scientists from the University of Cambridge, University College London and the University of Wisconsin-Madison report findings from a genetic study based on stem cells derived from Down syndrome and normal fetal tissue.
The results illuminate some of the key cellular and molecular processes that give rise to Down syndrome, one of the most common causes of developmental disability in humans. The study is the first of its kind using human cells.
The central finding of the study, according to Clive N. Svendsen, a UW-Madison professor of anatomy and neurology and a co-author of the report, is that a faulty genetic circuit results in dramatic changes in the development of the cells that make up the early brain.
"These findings point to a serious deficit in specific genes known to be important for neuronal development," said Svendsen who is currently director of the stem cell research program at the UW-Madison Waisman Center, one of the world's leading centers for the study of human development, developmental disabilities, and neurodegenerative diseases.
The Lancet study, which Svendsen co-authored with lead author Sabine Bahn, University of Cambridge, and others has begun to shed light on the earliest genetic events in humans that give rise to a serious cognitive disability.
It has long been known that most instances of Down syndrome, which affects nearly 350,000 people in the United States alone, results from an extra chromosome, chromosome 21, in the cells of those who have the condition. However, the precise genetic events that lead to the abnormal brain development of people with Down syndrome have not been understood.
"Until now, we have only had mouse models of Down syndrome, which have not been so faithful in reproducing all aspects of Down syndrome," Svendsen said. "Now we have a complementary source of human stem cells with extra chromosome 21, and which can be grown indefinitely and used by a large number of scientists."
Although the results presented in the current Lancet study are preliminary, identifying the faulty behavior of key genes that give rise to Down syndrome could ultimately lead to better treatments, including new drug and, possibly, gene therapies.
"This provides a nice model for drug or other types of intervention to try and get (the developing brain) back to normal neuronal production from the stem cells," Svendsen explained.
The study was made possible, according to Svendsen, by new advances that permit scientists to grow stem cells in culture, monitor gene activity within the cells, and observe the cells as they progress down the developmental pathway to becoming the cells that make up the human brain.
In the Down syndrome cells, it was found that there is a significant reduction in the percentage of cells that go on to form neurons compared to non-Down syndrome cells. Moreover, nerve fibers from the Down syndrome cells were shorter and misshapen.
Using techniques that permit scientists to see which genes are active in both a Down syndrome sample and a non-Down syndrome sample, the group was able to home in on the genes that seemed to be responsible. Knowing which genes are involved is critical because it opens the door to developing gene and drug therapies that could prevent the onset or development of the syndrome.
"I think it is early in the game, but now we can work with a new model for Down syndrome which uses human cells rather than mouse cells," said Svendsen. "If we can understand the loss of neurons in Down syndrome, I think it may lead to some novel treatments in the future."
The Same Old Story, Told by Individuals with Down Syndrome. [URL removed]
(Rockville, MD - February 13, 2002) Despite a more restricted expressive vocabulary and grammar, individuals with Down syndrome are able to narrate the content of a complex picture story at levels comparable to those of typically developing children with similar comprehension skills, according to a study reported in the February issue of the American Speech-Language-Hearing Association's (ASHA) Journal of Speech, Language, and Hearing Research. The study shows evidence that the language skills of individuals with Down syndrome continue to improve in the teenage years, and signifies the importance of continuing language intervention for these individuals through adolescence and early adulthood.