Law, DSHS Brochure Aim to Make Sure Parents Get the Facts on Down Syndrome
Tex Med. 2016;112(9):35-40.
By Joey Berlin
Less than 35 years ago, a diagnosis of Down syndrome was an indicator of a depressingly short life. In 1983, the average life expectancy for someone diagnosed with the chromosomal abnormality was just 25 years, according to the National Down Syndrome Society (NDSS).
Today, the average life expectancy is 60 years, according to NDSS, and children with Down syndrome are growing up to do things previous generations never thought they could do.
The expectations have changed, and Odessa obstetrician-gynecologist Moss Hampton, MD, says physician education has changed along with the expectations.
"What we've seen over the last 20 or 30 years is that with certain types of education and nurturing and mainstreaming and all the things that they're doing now with Down syndrome people, there has been quite a significant improvement over what we were taught when we were in medical school 30 or 40 years ago," said Dr. Hampton, chair of the Texas district of the American Congress of Obstetricians and Gynecologists (ACOG). "But I think nowadays, most people are very cognizant of the capabilities of Down's patients."
Down syndrome advocates in Texas, though, say physicians can be more cognizant. They say many parents who get the disconcerting news that their child has Down syndrome don't receive the most updated information from their physician, and sometimes they get no information.
Those parents' stories were a driving force behind the passage of last year's House Bill 3374, a measure that requires Texas physicians who diagnose a child with Down syndrome to provide parents with state-prepared, evidence-based information on the disorder. In turn, the Texas Medical Association is doing its part to educate physicians about what the new law requires. At press time, TMA was preparing to produce a pair of videos to help physicians understand their responsibilities under HB 3374.
Down Syndrome and Its Outlook
Each cell in the human body usually contains 23 pairs of chromosomes, with one copy of each chromosome from each parent. Down syndrome occurs when a person has an extra, third copy of the 21st chromosome. The most common form of Down syndrome, known as trisomy 21, occurs when a person has the third copy of that chromosome in every cell of the body. Trisomy 21 accounts for 95 percent of all Down syndrome cases, according to NDSS. The other types are translocation, in which a copy of chromosome 21 attaches to another chromosome; and mosaicism, or mosaic Down syndrome, in which the person has a mixture of cells with some containing the usual number of chromosomes and some containing an extra copy.
People with Down syndrome have an increased risk for respiratory and hearing problems, congenital heart defects, Alzheimer's disease, thyroid conditions, and childhood leukemia. Physically, the disorder can cause an upward slant to the eyes, low muscle tone, and small stature. NDSS says the disorder is the most common genetic condition in the United States; approximately 400,000 Americans have it, and about 6,000 babies are born with it each year.
Prenatal screening tests can establish a probability that a fetus has Down syndrome, while a diagnostic procedure, such as amniocentesis, can provide a diagnosis with nearly 100 percent accuracy, according to NDSS. Physicians also can diagnose the disorder at birth with a chromosomal analysis.
The NDSS website devotes a section to dispelling many of the myths about Down syndrome, such as the notions that students with Down syndrome must enter segregated special education programs, that all people with the disorder have a severe cognitive disability, and that they're unemployable. For example, the website notes the current trend is "full inclusion in social and educational settings."
"Businesses employ adults with Down syndrome for a variety of positions — in banks, corporations, hotels, hospitals, nursing homes, offices, and restaurants," NDSS says. "They work in the music and entertainment industry, in clerical positions, child care, the sports field, and the computer industry, to name a few. Like anybody else, people with Down syndrome want to have a job where their work will be valued."
Reasons cited for the dramatic increase in life expectancy in recent decades include improved medical care, access to that care, and the movement away from institutionalizing children with the disorder.
Siv Fasci, MD, an Austin developmental-behavioral pediatrician who teaches pediatric residents at Dell Children's Medical Center of Central Texas, says there's often a misunderstanding about potential life outcomes for children with Down syndrome.
"I feel like a lot of families focus on the intellectual disability that's associated with the syndrome, where there definitely [are] a lot of positives as well," she said. "Many of the children grow up to be individuals with mild intellectual disability, so they participate in and contribute to their families and communities. Some work and may live independently, but will need support and some assistance to handle money."
Dr. Fasci noted statistics from the Global Down Syndrome Foundation showing 39.4 percent of people with Down syndrome are in the mild intellectual disability range, with an IQ between 50 and 70. One percent are in the borderline intellectual function range, with an IQ between 70 and 80.
Rep. Geanie Morrison (R-Victoria) introduced HB 3374, which requires the Texas Department of State Health Services (DSHS) to make available information on the disorder, including physical, developmental, educational, and psychosocial outcomes; life expectancy; functional and intellectual development; available treatment options; and contact information for national and local education and support programs, organizations, services, hotlines, and resource centers.
The law went into effect in September 2015, and the DSHS brochure became available last February.
Physicians who diagnose a child with Down syndrome, including unborn children, are required to provide the DSHS information to parents; however, physicians may provide patients other current, evidence-based sources of information on the disease as well. The law forbids the DSHS-prepared information from presenting pregnancy termination as an option for parents who receive a prenatal diagnosis. Language in HB 3374 stipulates it doesn't impose a standard of care for practitioners.
At press time, TMA was preparing two videos — one for obstetrician-gynecologists and one for family physicians — to inform them about HB 3374 and their responsibilities under the law, highlight the opportunities the bill presents, and assist them in communicating with parents who receive a Down syndrome diagnosis. TMA was planning to offer continuing medical education for viewing one of the videos and completing an evaluation and post-test.
How up-to-speed physicians generally are on the most recent research and realities of Down syndrome is a subject of some debate. Dr. Hampton says health care professionals he works with are "very positive about the future for Down syndrome patients" within limitations, as their patients can face widely varying physical problems. In Dr. Hampton's experience, practitioners are good about relaying the right information.
"I think everybody these days is certainly not dismissing it and saying, 'Oh, there's no hope for this child' or 'This child will never be able to function in society' or things like that," he said.
But the Down Syndrome Association of Central Texas (DSACT) says it has been common for parents to receive outdated information, if they even get information. That's what happened to Suzanne Shepherd, health care chair for DSACT's board of directors, when her son was born with Down syndrome in the late '90s.
At the time, Ms. Shepherd says she got no information on the disorder from physicians, so she asked a nurse, who pulled some information from the hospital's medical library.
"She didn't bother to read it, and she handed it to me. It was way outdated," Ms. Shepherd said. "It said babies with Down syndrome will not learn to read or write or walk or talk, and it included an autopsy photo. You can imagine how emotionally soothing that was to a new mother with a 1-day-old baby who was trying to wrap her head around the diagnosis of Down syndrome, to get a handout that showed an autopsy photo."
But when she spoke to Texas Medicine this summer, Ms. Shepherd's son was 18 and a new high school graduate, and he was looking at college programs this summer with an eye toward attending one next year.
"If someone had told me the night that he was born that he would go to five different proms in high school and have a girlfriend and have the sense of humor that he has, and be looking at a college program by age 19, I wouldn't have cried every day for six weeks because I would have understood, 'This kid is truly going to have a wonderful life, with all the essential things that all the rest of us enjoy,'" she said.
Ms. Shepherd says she typically meets with new parents of children with Down syndrome to ask them what they hear from the physician at diagnosis. She says those discussions indicate the passing of outdated information continues.
"We have members with children who are younger than 12 years old who are still being told that institutionalization is an option," she said. "Which, not only is that developmentally very inappropriate, [but] the state-supported living center in Central Texas, in Austin, doesn't accept infants anymore. … But most state-supported living centers don't accept infants, so that's wrong on a variety of fronts."
Austin family physician Adam Barta, MD, who presents educational programs on Down syndrome to physicians, notes many OB-Gyns don't receive much pediatric training in their residency.
"In medical school, they may have had maybe a couple of months of pediatrics as a student, and the odds of them having a lot of exposure to children with Down syndrome or other special needs are not high," he said. "Many of them will be unaware of a lot of the medical issues, what it's like to have a child with Down syndrome, what kids with Down syndrome are like in society today."
When HB 3374 emerged in the last legislative session, the Texas district of ACOG had no issue with wanting to improve the education parents were getting on Down syndrome, Dr. Hampton says, particularly in cases of a prenatal diagnosis. But ACOG objected to "another piece of information that the state was requiring that we talk to our patients about," he said.
"We just felt like that was invading on the doctor-patient relationship, having legislators telling doctors how to practice medicine, or what to tell the patients," Dr. Hampton added. "We really didn't have any problem with the message. I think both sides very strongly agreed that there ought to be full and complete disclosure, discussion [with] anybody with a baby that has chromosomal problems, genetic abnormalities, birth defects, whatever the problem might be.
"We felt like there was plenty of information that was already out there, and we felt like our physicians were doing a good job of talking to patients about these types of things."
The four-page brochure DSHS produced as a result of HB 3374 satisfied Down syndrome advocates. The brochure informs parents that children with Down syndrome are "more like other children than they are different," have a mild to moderate range of intellectual disability, and often attend "regular schools in regular education classes with different levels of support." It assures parents that people with Down syndrome can "do all the things a typical person can do, including participate in sports and have a job." Half of babies with Down syndrome, the pamphlet cautions, will have health issues, such as heart or gastrointestinal conditions, feeding and digestive issues, and respiratory infections.
Vilma Luna, a former state representative and a registered lobbyist who worked on HB 3374, says the measure helps provide consistency across the state in the information families receive, whether a parent receives a diagnosis in a major city or in a smaller town. Ms. Luna has an 18-year-old son with Down syndrome.
"It's an excellent resource. It's readily available to docs and other practitioners," she said of the DSHS brochure. "It really does serve the purpose of getting information out to families, and it's not in-depth, but it's a good starting point, and it touches on the various developmental issues and opportunities."
Ms. Shepherd called the brochure balanced, saying it's neither overly optimistic nor overly negative. She noted in particular the brochure's mention of college programs for people with intellectual delays. Those programs usually offer the student the opportunity to earn a non-degree achievement, such as a certificate.
"That lifts the expectations of the parents, which is what we're looking for," she said, "because high expectations of the parents is one of the most crucial factors in determining eventual outcomes for the child."
Ms. Shepherd will host a DSHS Grand Rounds educational presentation on Down syndrome in Austin this October. (See "Grand Rounds.")
Dr. Hampton says the DSHS information is "very accurate."
"Probably, some of the information we would give them would be a little more specific, and maybe cover a few more points than I recall being in the pamphlet," he said. "But there was really no problem with the pamphlet."
He says parents should consider genetic screening and prenatal diagnosis not just for Down syndrome, but for all genetic abnormalities.
"Obviously, our knowledge of genetics has exploded in the last five to 10 years," he said. "The accuracy of the diagnosis is very good."
Joey Berlin can be reached by phone at (800) 880-1300, ext. 1393, or (512) 370-1393; by fax at (512) 370-1629; or by email.
Facts About Down syndrome
Estimated number of babies per year in the United States born with Down syndrome, about one in every 700 babies born
Percentage of people with Down syndrome with an IQ in the mild intellectual disability range (50-70)
Percentage of people with Down syndrome with an IQ in the borderline intellectual function range (70-80)
Cases of Down syndrome in Texas in 2009 per 10,000 live births by mothers aged 19-34
Cases of Down syndrome in Texas in 2009 per 10,000 live births by mothers aged 35 or older
Sources: Centers for Disease Control and Prevention, Global Down Syndrome Foundation, and Texas Department of State Health Services, The Health Status of Texas 2014.
The Texas Department of State Health Services (DSHS) will host "Down Syndrome in the 21st Century" as part of its Grand Rounds continuing education program from 11 am to 12:30 pm on Oct. 5 at the DSHS building, located at 1100 W. 49th Street in Austin.
Suzanne Shepherd, health care chair and past president of the Down Syndrome Association of Central Texas, will present the program, which will focus on better understanding of the disorder and early interventions. For more information and to inquire about registration, email GrandRounds[at]dshs[dot]state[dot]tx[dot]us.
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March of Dimes
Global Down Syndrome Foundation
National Down Syndrome Society
Texas DSHS Down syndrome resource
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