“But I think nowadays, most people are very cognizant of the capabilities of Down’s patients.” Down syndrome advocates in Tex-
Resources
March of Dimes: tma.tips/MODDown Syndrome
Global Down Syndrome Foundation:
www.global down
syndrome.org
National Down Syndrome Society:
www.ndss.org
Texas DSHS Down syndrome resource:
www.dshs.texas.gov/ birthdefects/downsyn drome/
as, 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 driv-
ing force behind the passage of last year’s House Bill 3374, a measure that requires Texas physicians who diag- nose 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 edu- cate 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, oc- curs 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 mo- saic 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
36 TEXAS MEDICINE September 2016
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; ap- proximately 400,000 Americans have it, and about 6,000 babies are born with it each year. Prenatal screening tests can es-
tablish 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 dis- order at birth with a chromosomal analysis. The NDSS website devotes a sec-
tion to dispelling many of the myths about Down syndrome, such as the notions that students with Down syn- drome must enter segregated special education programs, that all people with the disorder have a severe cog- nitive disability, and that they’re un- employable. For example, the website notes the current trend is “full inclu- sion in social and educational settings.” “Businesses employ adults with
Down syndrome for a variety of posi- tions — in banks, corporations, hotels, hospitals, nursing homes, offices, and restaurants,” NDSS says. “They work in the music and entertainment indus- try, in clerical positions, child care, the sports field, and the computer indus- try, 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 in-
crease in life expectancy in recent de- cades include improved medical care, access to that care, and the movement away from institutionalizing children with the disorder. Siv Fasci, MD, an Austin develop-
mental-behavioral pediatrician who teaches pediatric residents at Dell Children’s Medical Center of Central Texas, says there’s often a misunder- standing about potential life outcomes for children with Down syndrome. “I feel like a lot of families focus on the intellectual disability that’s associ-
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