Park Ridge, Ill. – During a month that brings greater awareness to the medical conditions of breast cancer and Down syndrome, Chicago area Family Physician, Brian Chicoine, M.D.,has new research that could change how women with Down syndrome approach mammography screenings.
Dr. Chicoine authored a study recently published in the journal Intellectual and Developmental Disabilities that questions the utility of mammograms in women with Down syndrome, citing three main reasons.
- Breast cancer is uncommon in women with Down syndrome. During the 16 years of charts reviewed, less than one percent (0.7%) of the women had breast cancer and none of the cases were invasive breast cancer. In the general population, approximately 12 percent of women will be diagnosed with breast cancer at some point in their lifetime. In fact, most solid tumors are rare in people with Down syndrome.
- Mammography screening could bring greater harm than benefit. People with Down syndrome are at a higher risk for the adverse effects from the radiation exposure that comes with the diagnostic test. Also, there’s concern for more intense psychological stresses that potentially accompany the screening process.
- A mammogram is not a cost-effective part of health maintenance for women with Down syndrome.
“We want this evidence-based research to lead to meaningful change for the thousands of adolescents and adults with Down syndrome that we treat and that other doctors across the country treat too,” said Dr. Chicoine, director of the Advocate Medical Group Adult Down Syndrome Center (ADSC).
Dr. Chicoine now recommends the least aggressive approach suggested by government agencies for the general population. He follows Healthcare Quality Research guidelines, which recommends women get their first mammogram at age 50, and then every other year thereafter. The American Cancer Society suggests starting the process at age 40.
Carrie Cebulski, who has Down syndrome, is happy to hear she doesn’t have to return for a mammogram for at least another decade. Her sister and legal guardian, Karen Giardina, is relieved too. Carrie, 41, underwent a mammogram earlier in the year, which resulted in a false-positive reading.
Giardina describes her and her sister as “nervous and scared” during the period of time between the first mammogram and the second one. The sisters have a history of breast cancer in their family, but remained positive and prayed that everything would be OK. And it was. A second mammogram confirmed there were no signs of a malignant tumor.
Cebulski said, “I don’t want to do it (have a mammogram) again.”
After doctors at the ADSC shared the research findings, Giardina said, “It was good to hear about the study. Now Carrie doesn’t have to go back for a mammography screening for many years to come, if at all.”
Cebulski is among some 250,000 people in the U.S. (and perhaps as many as 320,000) living with Down syndrome, the most common of chromosomal conditions. The average life expectancy of individuals with Down syndrome is 60 years, with many living late into their 60s and 70s. As a result, specialists say it’s more important than ever to understand how best to treat patients with Down syndrome throughout their life and share that information with patients and other physicians.
Dr. Chicoine is now meeting with his peers at family conferences as well as with the Down Syndrome Medical Interest Group and Global Down Syndrome Foundation to further discuss his findings.
The next step is to get a stamp of approval on his recommendations for mammography screening from the U.S. Preventive Services Task Force, a government organization providing guidelines for clinical preventive services. Medical guidelines for adults with Down syndrome have not been updated since 1999. “It’s time for some changes,” Dr. Chicoine said.
This latest research is part of a larger effort in recent years to publish evidence-based studies that speak to health conditions that have presented differently in people with Down syndrome compared to the general population. In addition to breast cancer testing, Dr. Chicoine has proven his theories on proper screenings and treatments for celiac disease and urinary retention issues. His team of researchers now will exam the effectiveness of pap smears and colonoscopies in people with Down syndrome.
“We want to study medical problems that happen more frequently for people with Down syndrome, and less often, such as breast cancer, so they don’t undergo any undue stress, or even trauma, in the clinical environment through unnecessary screenings and exams,” Dr. Chicoine explained.
“Population health is important, but so is sub-population health. We need to understand the incidence of different diseases beyond sex and race,” Dr. Chicoine said.
Much of what the ADSC has seen in the clinic setting has been shared directly with families through the release of two books over the past decade: “The Guide to Good Health for Teens & Adults With Down Syndrome” (2010) and “Mental Wellness in Adults with Down Syndrome: A Guide to Emotional and Behavioral Strengths and Challenges” (2006), both authored by ADSC founders Dr. Chicoine and Dennis McGuire, Ph.D.
The ADSC researchers plan to make their peer-reviewed research available to primary care physicians including family medicine specialists, pediatricians and internal medicine doctors. The team at ADSC not only wants to improve care for patients, but also to serve as a resource for other physicians nationwide so these doctors can improve medical treatment for their patients with Down syndrome.
The ADSC is the largest medical facility specifically serving adults with Down syndrome in the United States. For more than 20 years, ADSC has medically treated 5,500 patients with Down syndrome, both physically and mentally. It’s the only one of its kind in the Midwest. An expansion in 2010 allowed the ADSC to bring additional healthy lifestyle programs to its patients, enhancing its holistic approach.
The medical care and programs provided at the Center are funded primarily through donations, which are critical to providing personalized care.
Article Citation: Brian Chicoine, Melody Roth, Laura Chicoine, and Suela Sulo (2015) Breast Cancer Screening for Women With Down Syndrome: Lessons Learned. Intellectual and Developmental Disabilities: April 2015, Vol. 53, No. 2, pp. 91-99.
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About Advocate Medical Group
Advocate Medical Group is a physician-led medical group providing primary care, specialty services, medical imaging, outpatient services and community-based medical practices throughout Chicagoland and Central Illinois. One of the state’s largest medical groups with more than 1,100 primary and specialty care physicians in over 200 locations, Advocate Medical Group is part of Advocate Health Care, one of the leading, integrated health care systems in the nation. More information can be found at amgdoctors.com, or by calling 1.800.3.ADVOCATE (1.800.323.8622).