Archive for the ‘Medical’ Category

Pioneering Care for People with Down Syndrome

November 8th, 2018 by Global Down Syndrome Foundation


From Down Syndrome World Issue 3 2018

As one of the lead authors of the Medical Care Guidelines for Adults with Down Syndrome, George T. Capone, M.D., is continuing his life’s work of improving evidence-based medical care for people with Down syndrome.

FOR THE PAST 30 YEARS, George T. Capone, M.D., has specialized in providing quality care for patients with Down syndrome, always pushing for better evidence-based treatment and interventions. As a research scientist, Director of the Kennedy Krieger Institute’s Down Syndrome Clinic and Research Center (DSCRC), and Associate Professor of Pediatrics at the Johns Hopkins University School of Medicine, he has seen more than 2,500 patients, ranging in age from infants to seniors. Dr. Capone has contributed to improved care since the 1980s, and he continues to be concerned about health care for adults with Down syndrome.

Dr. Capone’s extensive knowledge, experience, and passion to improve care are the primary reasons he was tapped to join a team of physicians and researchers updating the Medical Care Guidelines for Adults with Down Syndrome, a project funded by the Global Down Syndrome Foundation.


Dr. Capone’s career treating people with Down syndrome took root in 1988, when he began a neurobiology fellowship at Johns Hopkins University School of Medicine. At the time, researchers at Johns Hopkins, including his mentor Joseph T. Coyle, M.D., were conducting groundbreaking genetic research on the link between Down syndrome and Alzheimer’s disease. Among the many projects he saw occurring in Dr. Coyle’s lab was research that used TS16 mouse models to investigate the impact that three copies of chromosome 21 — the defining characteristic of Down syndrome — has on early-onset Alzheimer’s disease. It was some of the earliest research on the subject.

This article was published in the award-winning Down Syndrome World™ magazine. Become a member to read all the articles and get future issues delivered to your door!

The time spent in Dr. Coyle’s lab helped lay the foundation for Dr. Capone’s interest in how that research could be directly applied to the health and well-being of patients. In the early 1990s, Dr. Capone joined the Kennedy Krieger Institute. There, he recognized that the DSCRC provided ample opportunity to develop hypotheses and research questions on the neurobiological and neurobehavioral basis of cognitive impairment associated with Down syndrome. The clinic’s diverse patient population allowed for “person-centered clinical research focusing on the medical and mental health conditions we see on a daily basis.” Such research, he knew, would benefit not only people with Down syndrome but also patients with its co-occurring conditions, such as Alzheimer’s disease, sleep apnea, and heart conditions.

Under Dr. Capone’s leadership, the DSCRC has conducted studies on a range of conditions, including autism-spectrum disorders and attention-deficit/hyperactivity disorder. His research has led to the characterization of autism in children with Down syndrome, uncommon neurobehavioral and developmental profiles of children and teenagers with Down syndrome, and developmental regression in people of all ages with the condition.

He has also designed and conducted several clinical pharmacology trials for drugs intended to improve memory and cognition in both children and adults, including risperidone, guanfacine, and rivastigmine.

“The science is fascinating, and the associated medical conditions are complex and perplexing,” Dr. Capone said. “The families I work with are the best, and the children and adults I interact with always amaze me.”


Dr. Capone agrees that the increased knowledge and advocacy among parents and healthcare professionals, the establishment of specialized clinics such as the DSCRC, and advancements in medical-surgical care for children have all progressed health for people with Down syndrome. Yet, despite contributions to the field of care for people with Down syndrome, more research is necessary to improve lives.

“We need to better understand the etiology-pathogenesis and risk factors associated with certain medical conditions, as well as what treatment approaches and prevention strategies are most beneficial to our patients,” Dr. Capone explained. “We also need a more organized approach to managing data sets to improve clinical decision-making, patient and caretaker outcomes, and quality of life.”

The Medical Care Guidelines for Adults with Down Syndrome will go a long way toward improving clinical decision-making and health outcomes. The current guidelines available for adults with Down syndrome were last updated in 2001 and do not adequately reflect the more than doubling of life span for people with Down syndrome since the 1980s. As adults with Down syndrome are living longer, they require care specific to their unique aging experience and risk factors.

“Many physicians in adult medicine do not have adequate training to care for people with genetic and neurodevelopmental conditions,” Dr. Capone said. “The medical conditions experienced by adults with Down syndrome can appear overwhelming and beyond the reach of many physicians, but with sufficient resources and training, we can teach primary care and other adult healthcare providers how to provide this care with confidence.

“Coming up with medical care guidelines will expose how little we really know about ‘best practices’ when caring for aging adults with Down syndrome and chronic medical conditions,” he added. “I hope it will stimulate further interest and investigation into this often neglected aspect of clinical research.”

To learn more about the Medical Care Guidelines for Adults with Down Syndrome, please visit   


George T. Capone, M.D., Director of the Down Syndrome Clinic and Research Center at Kennedy Krieger Institute and Associate Professor of Pediatrics at the Johns Hopkins University School of Medicine, has some advice, learned over a 30-year career, to pass along to people with Down syndrome and their families.

Don’t get caught up in comparisons.

“If your child seems different compared to other children you know with Down syndrome, don’t despair,” Dr. Capone said. “All our children are unique, and we should rejoice in these differences.”

Exercise body and mind.

“Stay physically and mentally active once you leave high school or post-secondary school,” he said. “Find your own means of self-expression through the performing arts, fitness, hobbies, and fun social activities.”


“Stay informed and connected to the larger Down syndrome community of families and selfadvocates,” he advised.

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A Center For Life-Changing Care

October 12th, 2018 by Global Down Syndrome Foundation

The Sie Center

From Down Syndrome World Winter 2017

Since its inception in 2010, The Anna and John J. Sie Center for Down Syndrome at Children’s Hospital Colorado has championed healthy starts and bright futures by caring for the unique medical needs of young people with down syndrome.

WHEN HER DAUGHTER, Sophia, was born with Down syndrome 13 years ago, Michelle Sie Whitten, President and CEO of the Global Down Syndrome Foundation, traveled more than 1,000 miles from her home in Denver to the Thomas Center for Down Syndrome Services at Cincinnati Children’s Hospital Medical Center to find the specialized medical care Sophia needed. After talking with other local families making the same trek, Whitten began exploring what it would take to bring a similar center to Colorado.

“The initial thinking was, ‘Why should we have to travel?’” Whitten said. “Why shouldn’t Colorado have a fabulous, world-class pediatric medical center for kids with Down syndrome?”

From Whitten’s due diligence and efforts, and funding from Sophia’s grandparents, Anna and John J. Sie, came the Sie Center, a medical center that opened in 2010 at Children’s Hospital Colorado as part of the Linda Crnic Institute for Down Syndrome.


“There’s a lot of talk about people with Down syndrome reaching their full potential,” Whitten said. “At Global, we feel very strongly that without good health, you’ll never reach your full potential.”

Helping children and young adults up to age 21, the Sie Center’s team of medical professionals provides the expert care and resources needed to manage a wide range of physical and behavioral health issues associated with Down syndrome. These specialists work closely with primary care providers at Children’s Hospital Colorado to coordinate care and deliver services through seven clinics.

At the Medical Clinic, a developmental pediatrician, nurse, and physical therapist evaluate children’s medical issues and physical growth to develop a comprehensive care plan. During visits, kids may also see an occupational therapist as needed.

This article was published in the award-winning Down Syndrome World™ magazine. Become a member to read all the articles and get future issues delivered to your door!

The Sie Center’s Feeding Clinic offers families an opportunity to visit with a feeding and swallowing specialist, developmental pediatrician or nurse practitioner, physical therapist, and social worker. These providers help parents address muscle weakness and other issues with eating and drinking that can interfere with a child’s ability to breast-feed, chew, and/or swallow and therefore raise his or her risk of silent aspiration.

The ENT Clinic helps manage diseases of the ear, nose, and throat, including chronic ear infections, airway obstructions, and hearing loss. Approximately 70 to 75 percent of kids with Down syndrome deal with hearing loss, according to the Eunice Kennedy Shriver National Institute of Child Health and Human Development.

The Sie Center is the first center of its kind to have a full-time School-Age Clinic. The clinic’s educational specialist and psychologist help families develop individualized education programs and identify medical problems that may contribute to difficulties with behavior and learning. For example, a child who is acting out in gym class may do so because his feet hurt — not because he doesn’t want to participate in the activity.

“These specialists are like medical detectives,” Whitten said. “They work very closely to understand what’s happening at school and what modifications, support, and resources may be helpful.”

Through the Infant Clinic, babies receive a complete evaluation of their physical health to identify medical needs at a very early age.

At the Sleep Clinic, physicians evaluate children for sleep disorders and help parents troubleshoot solutions for common challenges, such as using a continuous positive airway pressure machine.

Currently, the Telemedicine Clinic connects Sie Center specialists with providers in Durango, Colorado, who treat children with Down syndrome, but Whitten said the goal is to expand the service to benefit the maximum possible number of patients.

In addition to these clinics, the Sie Center recently instituted a mental wellness program. Often, young people experiencing regression or warning signs of depression and anxiety are told that these symptoms are complications related to Down syndrome. However, these issues may be treatable mental illnesses, just as they would be for typical young adults.


The clinic’s specialists are actively involved in clinical research projects that will help doctors around the world improve care for children with Down syndrome.

Arwen Jackson, MA, CCC-SLP; Jennifer Maybee, OTR, MA, CCC-SLP; Maura K. Moran; Kristine Wolter-Warmerdam; and Francis Hickey, M.D., FAAP, all with the Sie Center or Children’s Hospital Colorado, published their latest study on aspir ation in the international journal Dysphagia.

“Doctors at Children’s Hospital Colorado are also joint appointees at the University of Colorado School of Medicine, so we’re able to get a lot of medical students who are required to do a fellowship or some kind of rotation,” Whitten said. “Working with the Sie Center gives them an in-depth look at the best way to provide medical care to patients with Down syndrome, and that carries over to the care they give in the future.

“The services the Sie Center provides are nothing short of life-changing, if not lifesaving,” Whitten added. “I’ve spoken with parents who’ve told me, ‘I was always afraid, but now that I’m at the Sie Center, I understand what’s going on. I know what I’m supposed to be doing for my child’s health.’”


The Anna and John J. Sie Center for Down Syndrome at Children’s Hospital Colorado is one of the largest centers of its kind in the world. Here’s a snapshot of the clinic’s impact:

• More than 1,500 visits take place at the Sie Center each year.
• The Sie Center serves approximately 1,300 patients annually.
• The pediatricians, specialists, and therapists at the Sie Center have more than 80 years collective experience caring for children with Down syndrome.
• Families representing 26 states, seven countries, and Puerto Rico seek care at the Sie Center.

Global provides continued financial support for the Sie Center. Visit The Sie Center web page to learn how you can help efforts to provide medical care for children and young adults with Down syndrome. 

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Dallas, TX – Dr. Joaquín Espinosa, Ph.D., Executive Director of the Linda Crnic Institute for Down Syndrome on the Anschutz Medical Campus (Crnic Institute), was awarded the National Down Syndrome Congress 2018 Pueschel-Tjossem Award for his scientific breakthrough recasting Down syndrome as an immune system disorder. Dr. Dennis McGuire, LCSW, Ph.D., Senior Consultant for Adult Medical Initiatives at the Global Down Syndrome Foundation (Global), received the 2018 Down Syndrome Medical Interest Group William I. Cohen MD, Distinguished Service Award for his lifetime work in behavioral and mental health for adolescents and adults with Down syndrome. He received the award along with his esteemed and accomplished colleague, Dr. Brian Chicoine, M.D.. Both awards were presented at the National Down Syndrome Congress (NDSC) Annual Convention.

Kishore Vellody, M.D., Frank Stephens, Joaquín Espinosa, Ph.D.,
DeOndra Dixon, and David Tolleson

Dr. Espinosa is a nationally and internationally renowned cancer scientist. As the Executive Director of the Crnic Institute, a Global Affiliate, he oversees the Crnic Institute Human Trisome Project™, studying how Down syndrome (trisomy 21) connects to cancer, Alzheimer’s, immune system disorders, and multiple other co-morbidities. He is also a Professor in the Department of Pharmacology and founding Director of the Functional Genomics Facility at the University of Colorado Anschutz Medical Campus School of Medicine, and co-Leader of the Molecular Oncology program at the University of Colorado Cancer Center. The NDSC Pueschel-Tjossem Award recognizes research that has contributed to greater knowledge and understanding of Down syndrome and has improved the lives of people with Down syndrome and their families.

Dr. Dennis McGuire and Dr. Brian Chicoine

Dr. McGuire has more than 30 years of experience in the fields of mental health and developmental disabilities. He currently serves as Global’s Senior Consultant specializing in adult initiatives, including establishing a medical care center for adults with Down syndrome in Denver. Along with his colleague Dr. Chicoine, Dr. McGuire co-founded the Adult Down Syndrome Center of Lutheran General Hospital in Chicago, the largest, most prestigious clinic for adults with Down syndrome in the United States, where he served as Director of Psychological Services. Drs. McGuire and Chicoine co-authored two milestone books, Mental Wellness in Adults with Down Syndrome and The Guide to Good Health for Teens and Adults with Down Syndrome. Both doctors are serving as authors for Global’s Medical Care Guidelines for Adults with Down Syndrome – an important community service project.

The Down Syndrome Medical Interest Group-USA (DSMIG-USA) established the William I. Cohen, MD Distinguished Service Award in 2016 to honor a member for major contributions to DSMIG-USA’s mission of promoting the health and wellness of individuals with Down syndrome.

NDSC Pueschel-Tjossem Award Recipients

Joaquín Espinosa, Ph.D.

Michael Harpold, Ph.D.

Christopher J. Lemons, Ph.D.

Down Syndrome Consortium

Marilyn Bull, M.D.

Katheleen Gardiner, M.S., Ph.D.

Wayne Silverman, Ph.D.

Linda Crnic Institute for Down Syndrome

Charles J. Epstein, M.D.

Joseph D. Pinter, M.D.

Roger H. Reeves, Ph.D.

Beach Center on Disability

Stephanie Sherman, Ph.D.

Sue Buckley, OBE, Ph.D., (bsc)

George T. Capone, M.D.

Brian A. Chicoine, M.D.

Dennis E. McGuire, LCSW, Ph.D.

Joan Guthrie Medlen, M.Ed., RDN, LD

Thomas E. Elkins, M.D.

Steven F. Warren, Ph.D.

Kathy Boundy, Esq.

Arthur J. Dalton, Ph.D.

Felix de la Cruz, M.D.

Ruth A. Roberts, Ph.D.

Laura F. Meyers, Ph.D.

John E. Rynders, Ph.D.

Donald C. Fyler, M.D.

Aldo R. Castañeda, M.D., Ph.D.

Mary Coleman, M.D.

David Patterson, Ph.D.

Siegfried M. Pueschel, M.D., Ph.D., J.D., M.P.H.

DSMIG William I. Cohen, MD Distinguished Service Award Recipients

Dennis E. McGuire, LCSW, Ph.D.
Brian A. Chicoine, M.D.

Kim McConnell, M.D.
George T. Capone, M.D.

Michelle Sie Whitten, who heads the Denver-based Global Down Syndrome Foundation, has big hopes for new research at the University of Colorado, where scientists say they have upended the conventional wisdom that Down syndrome is a brain disorder. Instead, they classify it as a malfunction of the immune system.

Improving Quality of Life for Adults with Down Syndrome

October 25th, 2017 by Global Down Syndrome Foundation

A Lifetime Of Good Health Begins With Evidence-Based Guidelines

In the U.S., the life expectancy of an individual with Down syndrome has more than doubled in the last three decades, from 25 years in 1983 to 60 years today.

The reason for this increased lifespan is two-fold. First, the inhumane institutions where the overwhelming majority of people with Down syndrome were forced to live were dismantled in the 1980s and 1990s. This dismantling was a product of the human and civil rights movements of the 1960s and 1970s, which resulted in children with Down syndrome being raised in their homes and receiving education and medical care — basic rights they were deprived of in institutions.

Second, in the 1980s, there were considerable advancements in pediatric heart surgeries, as well as a legal battle that rightly ended with doctors being required to perform lifesaving procedures, including open-heart surgery, for children with Down syndrome.

Although people with Down syndrome are enjoying a significantly increased lifespan, their longevity is revealing some challenging age-related medical diagnoses. For example, it is estimated that approximately 70 percent of people with Down syndrome will develop Alzheimer’s disease. As they age, they are also at increased risk of many immune system disorders and obesity. Conversely, they are highly protected from several diseases, including most solid tumor cancers, such as breast cancer, as well as certain types of heart attacks and strokes. It is clear that people with Down syndrome have a different disease spectrum than typical people.

The American Academy of Pediatrics does an excellent job of periodically updating guidelines pediatricians should follow for their patients with Down syndrome. However, the last medical care guidelines for adults with Down syndrome were published in 2001. They provide many excellent insights and recommendations, but are in need of updates based on the increased lifespan of people with Down syndrome and advances in medical science.

In 2015, the Global Down Syndrome Foundation’s Task Force for Adults with Down Syndrome, a team of more than 60 self-advocates, their family members, and medical professionals, unanimously voted for Global to make updating medical care guidelines for adults with Down syndrome a priority.

“The primary purpose is to improve the physical and behavioral health of, and medical care for, people with Down syndrome. That’s absolutely why we’re doing this,” said Dennis McGuire, Ph.D., LCSW,
Senior Consultant at Global. He helped create the first adult medical care guidelines and is tasked with helping galvanize some of the leading medical professionals in adult care to establish new, comprehensive guidelines. “When we’re talking about health care and behavioral health, we’re talking about improving people’s quality of life. That’s our goal.”

The new Medical Care Guidelines for Adults with Down Syndrome will provide medical professionals with updated information about adults with Down syndrome and a checklist of recommended screenings and tests that cater to the unique medical profile of this special population.


This article was published in the award-winning Down Syndrome World™ magazine. Become a member to read all the articles and get future issues delivered to your door!

Ideally, the guidelines will allow adults with Down syndrome to receive the best possible car e, regardless of where they live.

“There are only a few clinics in the entire country serving teens and adults with Down syndrome,” Dr. McGuire said. “So there are huge numbers of them without access to specialty care. They go to local doctors, who may see just a few people with Down syndrome over the course of a year. The guidelines can provide those physicians with a resource they can tr ust, which will help them deliver better care.”

Initially, the new guidelines will cover medical car e across multiple disciplines, including cardiology, immunology, behavioral and mental health, and obesity/metabolism.

“We want to eventually cover many more areas,” said Michelle Sie Whitten, President and CEO of Global. “Unfortunately, Down syndrome is still one of the least-funded genetic conditions by our federal government. As a result, we won’t have enough evidence-based research to provide definitive guidelines in some areas but will rather be able to make recommendations. However, in identifying the research gaps, we can also prioritize such research so when we go back to update the guidelines in five years, we have targeted, more comprehensive research to rely on.”

“New health guidelines could prove beneficial for many reasons,” said Dr. McGuire, who worked for 25 years as a behavioral health expert at the Adult Down Syndrome Center at Advocate Lutheran General Hospital in Chicago. “For example, we’ve found that people with Down syndrome have a tendency toward depression. We also know there’s an overlap between physical and behavioral health. If people have thyroid problems, those can present as behavioral change. When people come in with changes in behavior, behavioral health professionals will recommend a thorough physical exam to make sure there are no physiological issues. If we’re treating depression without treating its physical causes, we’re not really helping [someone with Down syndrome].”

The first step in the creation of the new guidelines is a rigorous research process by the ECRI Institute, a nonprofit organization that conducts research to create evidence-based medical guidelines. ECRI works closely with the U.S. Department of Health and Human Services’ National Guideline Clearinghouse, which validates the guidelines.

“After that, we’ll gather information from the researchers and clinicians, put it into the form of actual guidelines, and make certain they are published in medical journals,” Dr. McGuire said. “ECRI’s role is to make sure that the quality of this process is extremely high.”

The project has attracted leading medical professionals from throughout the U.S. who provide clinical care to thousands of adult patients with Down syndrome every year. These clinicians will use the ECRI-vetted data as a basis to apply their vast knowledge in different areas and help craft guidelines and recommendations.

The entire process is expected to take two years, and the anticipated completion date is the end of 2018 with the guidelines being available for publication in early 2019.

The goal is to have the guidelines published in major medical journals to r each specialty fields and as many medical professionals as possible. The guidelines will be free to parents, caregivers, healthcare providers, and local Down syndrome organizations.

“Parents have always been, by far, the best advocates for people with Down syndrome,” Dr. McGuire said. “We’ve made certain to have a version available to families so they can use them to advocate for their sons and daughters .”

The two-year-long process of creating the new Medical Care Guidelines for Adults with Down Syndrome is costly. Global Down Syndrome Foundation has committed to funding this important initiative, translating the guidelines into 10 languages, and updating them every five years. Global is reaching out to the Down syndrome community for donations, and so far, 28 Down syndrome organizations and multiple individuals have contributed. Their generosity will be recognized in the published guidelines.

“Research is expensive,” said Dennis McGuire, Ph.D., LCSW, Senior Consultant at Global. “Many groups have already stepped up to help fund the guidelines. They know how important this is and are very excited.”

Your ongoing support is crucial to ensuring the best-quality guidelines. To donate, visit

“Tens of thousands of people with Down syndrome reach adulthood each year, and this increases the importance of and need for evidence-based guidelines in this expanding group. Recommendations applied to a person with Down syndrome as a child may not be relevant in adulthood,” said Kent McKelvey, M.D., who leads the Adult Medical Genetics and Down Syndrome Clinic at the University of Arkansas for Medical Sciences. “The presence of three copies of chromosome 21 has implications for development and aging in every organ system. This seems logical and we have some understanding of the processes on a molecular level. We see patterns of disease predisposition with age but we have not translated this into a comprehensive medical management approach. A systematic process such as this is needed to find the gaps in the evidence and order the current evidence into usable guidelines for primary care doctors.”

Like this article? Join Global Down Syndrome Foundation’s Membership program today to receive 4 issues of the quarterly award-winning publication, plus access to 4 seasonal educational Webinar Series, and eligibility to apply for Global’s Employment and Educational Grants.
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Global Down Syndrome Foundation (Global) is a nonpartisan, leading research, medical care and advocacy organization for people with Down syndrome. Global believes strongly that all Americans, including members of our community, must have access to affordable, high-quality healthcare and health insurance coverage appropriate for their needs. Global urges Senators to keep key patient protections and health insurance coverage that are part of current law in any Affordable Care Act (also known as Obamacare) replacement bill that is considered by the Senate.

We encourage the Senate to:

  • Ensure that people with pre-existing conditions like Down syndrome continue to have access to affordable, high-quality health insurance – regardless of whether or not they currently have insurance;
  • Protect federal funding for Medicaid to ensure that people who received coverage under previous expansions won’t lose their insurance;
  • Remove caps on federal contributions to state Medicaid programs – caps could result in persons losing coverage or those maintaining Medicaid coverage seeing a reduction in covered medical services and higher out-of-pocket costs; and
  • Continue the Affordable Care Act provision that allows children up to age 26 to stay on their parents’ health insurance policies.

Time is of the essence – the Senate may hold a vote on this legislation this week. We urge all Global Down Syndrome Foundation advocates to contact your Senators immediately and urge the Senate to allow for a full and open debate on their healthcare proposal and to oppose any plan that removes current patient protections and coverage for individuals with Down syndrome. As the debate on health care reform continues, Global is engaged with our friends in Congress to protect the health and wellbeing of all individuals with Down syndrome.

Thank you for your advocacy and support!


Corresponding Phone Script:

“Hi. My name is _________ and I live in [Hometown, State].

“I’m a volunteer and advocate with the Global Down Syndrome Foundation. I am deeply concerned that the Senate version of the American Health Care Act will not include protections that are important for people with Down syndrome. In particular, I am concerned that this bill [1) doesn’t guarantee insurance coverage for people with preexisting conditions, 2) cuts federal funding for Medicaid expansion, 3) establishes caps on federal funding for Medicaid, and/or 4) would not allow people to stay on their parents’ health insurance plans up to age 26 – include one or more based on your specific concerns].

“I am also concerned that the public will not have enough time to review and provide feedback on this bill. I hope Senator ____ will work with [his/her] colleagues to make sure that there is ample time for debate and input on this bill.

“These healthcare protections are extremely important not only for people with Down syndrome, but for all Americans.

“Thank you.”

Decoding Dysphagia: Understanding Swallowing Challenges

June 22nd, 2017 by Global Down Syndrome Foundation

From Down Syndrome World Issue 3 of 4

Research shows that more than 50 percent of children with down syndrome who are referred for a swallow study are identified with swallowing problems, also known as dysphagia.

Since dysphagia can impact growth, nutrition, lung health, and participation in regular mealtime experiences, it is important for parents of children with down syndrome to know the potential signs of dysphagia and where to get help if a problem is suspected.

Dysphagia can include difficulties in any of the three phases of swallowing:

  • The oral phase, when the food/liquid is chewed and/or manipulated in the mouth to make it ready to swallow. Oral phase difficulties can include problems with extracting liquid from a breast, bottle, or cup, chewing, or controlling food/liquid in the mouth.
  • The pharyngeal phase, when the food/liquid passes through the throat. Pharyngeal phase difficulties may include delay in starting the swallowing reflex, poor timing of closing off the airway before or during the swallow, and having residual material left in the throat after the swallow. These problems can lead to aspiration or entry of food/liquid into the airway.
  • The esophageal phase, when the food/liquid passes from the throat through the esophagus to the stomach. Esophageal difficulties may include food/liquid moving slowly through the esophagus or getting stuck.

This article was published in the award-winning Down Syndrome World™ magazine. Become a member to read all the articles and get future issues delivered to your door!

Signs of dysphagia may include coughing, choking, having red/watering eyes, or sounding congested during or after feeding. Swallowing problems can also be silent, with no obvious signs or symptoms. In children who have frequent upper respiratory illnesses, pneumonia, or persistent oxygen requirement, doctors may suggest having swallowing evaluated, even if there are no clear signs of a problem.

If the child appears to be having problems only in the oral phase of the swallow, a feeding evaluation, during which a child’s feeding skills are observed by a specialist or team of specialists, may be recommended.

If compromised airway protection is suspected, the child’s doctor may order an imaging study. The two most common imaging studies used to diagnose swallowing problems are the videofluoroscopic swallow study (VFSS) and the fiberoptic endoscopic evaluation of swallowing (FEES). The VFSS is done in the radiology department and looks like a “moving X-ray” of the head and neck.

The FEES is typically conducted in the office of an ear, nose, and throat doctor, also known as an otolaryngologist. During the FEES, a small, flexible tube called an endoscope is inserted into the child’s nasal passages. The endoscope is attached to a bright light and a camera, which allow the team to view the inside of the nose and throat.

During the VFSS and the FEES, the swallow team, including a speech-language and/or occupational therapist and a physician (either a radiologist for VFSS or an otolar yngologist for FEES) observes aspects of the child’s swallowing function, such as his or her ability to clear the throat between swallows and protect the airway during swallowing. If a problem is detected, the swallow team may try different strategies to improve swallowing, such as offering a slower-flowing bottle nipple or changing the child’s position.

If difficulties of the esophageal phase of swallowing are suspected, an imaging study completed in radiology called an upper GI or esophagram may be ordered.


The most important way that parents and medical providers can help children with dysphagia is to take steps to protect their children’s lungs, as ongoing aspiration can negatively impact pulmonary health. An evaluation with a pulmonologist for further assessment of lung health may be beneficial. Children with severe or persistent dysphagia may be referred to other medical specialists, such as an otolaryngologist or neurologist, for further evaluation as to the cause of the swallowing problem.

Maintaining adequate nutrition and hydration is another critical component of caring for children with swallowing problems. A dietician and/or gastroenterologist may be involved in the child’s care. After the swallow study, the evaluating team will provide recommendations about types of food and liquid that the child is able to swallow most safely. Modifying the child’s diet by minimizing exposure to foods that are more likely to be aspirated and offering foods that can be swallowed safely is an important step that can be taken to give the child the consistent experience of swallowing food and liquid with minimal aspiration.

For children who have severe dysphagia and are unable to swallow any food or liquid without aspirating, providing ongoing positive stimulation to the mouth through play, textured toys, and controlled experiences with small amounts of food and liquid (if approved by the medical team) can help the child maintain and develop skills for using his or her mouth.

Feeding and other developmental therapists can provide helpful services to children with swallowing disorders by teaching skills that support safe and functional feeding and swallowing. Those skills may include teaching the family appropriate positioning and pacing of the mealtime, working on underlying control and strength at the core of the body, and helping children control food or liquid more effectively in the mouth. It is important that therapy for feeding and swallowing issues is individualized for each child and addresses the areas of difficulty identified during the child’s feeding or swallowing evaluation.



  • Find out what to expect during the swallow study. For example, will it be a videofluoroscopic swallow study or a fiberoptic endoscopic evaluation of swallowing? Will you be able to feed your child? What will
    your child be eating and drinking?
  • Contact the swallow team ahead of time to make a plan that will work best for your child if you are concerned about whether your child will participate. Many hospitals have child life specialists who can help children be more comfortable during medical tests.
  • Be aware that the swallowing team may make recommendations to change your child’s diet to help them swallow more safely.


  • Help the swallow team to support your child. Bring preferred cups, plates, utensils, foods, and drinks from home. Tell the team if your child has special routines that help him or her eat or drink.
  • Make sure you understand the results and recommendations before you leave the appointment. Ask for clarification if you are unsure how to follow the recommendations at home.


  • Discuss the results with your child’s doctor and/or medical team.
  • Find out who to contact if your swallowing recommendations are not working or if you have follow-up questions.


If your child’s pediatrician recommends a swallow study, visit a medical care center that specializes in treating patients with Down syndrome. Find one at

About the Authors
Arwen Jackson, M.A., CCC-SLP, and Jennifer Maybee, OTR, M.A., CCC-SLP, are both speech-language pathologists and feeding and sw allowing specialists at the Anna and John J. Sie Center for Down Syndrome at Children’s Hospital Colorado. They work with parents and individuals with Down syndrome to manage dysphagia through the Sie Center’s weekly Feeding Clinic.


  • Frazier, J. B., and Friedman, B. (1996). Swallow function in children with Down syndrome: a retrospective study. Developmental Medicine & Child Neurology, 38, 695–703.
  • Jackson, A., Maybee, J., Moran, M. K., Wolter-Warmerdam, K., and Hickey, F. (2016). Clinical characteristics of dysphagia in children with Down syndrome. Dysphagia, 1–9.
  • O’Neill, A. C., and Richter, G. T. (2013). Pharyngeal dysphagia in children with Down syndrome. Otolaryngology – Head and Neck Surgery, 149(1), 146–150.

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People with Down syndrome and their families are Republicans, Democrats, and Independents. As a nonpartisan, leading research and advocacy organization, the Global Down Syndrome Foundation (Global) is focused on protecting and furthering the rights of people with Down syndrome regardless of party. To this end, we are deeply engaged with developments associated with health care reform, and we are providing an update to our friends and supporters on how this legislation may impact individuals with Down syndrome, how our community can participate in this national debate and take action.

Several weeks ago, President Trump, House Speaker Paul Ryan and other Republican leaders introduced the American Health Care Act (AHCA) to repeal and replace major pieces of the Affordable Care Act also known as Obamacare. The President could not garner enough votes within the Republican Party to pass the AHCA in the House. However, the President and his administration along with several members of Congress have continued negotiating further modifications to this legislative proposal and it is possible that the House of Representatives will schedule a vote as early as this week.

Global is encouraged that certain Obamacare provisions have been retained by the new proposal such as parents being allowed to keep their children up to age 26 on their health insurance policy. However, as the newly negotiated proposal stands, Global is concerned that there is not enough protection for people with pre-existing conditions. Given that Down syndrome may be considered a pre-existing condition by many health insurers and given the prevalence of other pre-existing conditions like certain cancers, and diabetes among individuals with Down syndrome, the importance of this issue cannot be overemphasized.

In particular, we respectfully urge our President and Congress to not include state waivers that would allow health insurers to charge much higher premiums to Americans with pre-existing conditions. We also oppose elimination of the “essential health benefits” requirement meaning health plans could discontinue coverage for many crucial medical services.

If you share these concerns, or have other concerns, please contact your local U.S. Representative and let them know that these areas of health care should not be sacrificed and that the most vulnerable Americans need protection.

As Congress continues debate on health care reform, Global is dedicated to working with our friends on both sides of the aisle, and with our Down syndrome and differently-abled communities, to ensure that people with Down syndrome continue to have access to affordable, quality health insurance.

Thank you for your advocacy and support!

Want to reach out to your U.S. Representatives to voice your concerns? Here’s a script to follow if you do contact them: 

“Hi.  My name is _________ and I live in [Hometown, State].  I’m a constituent and Global Down Syndrome Foundation advocate.  My mailing address and/or email address is _______________ so that you can send me a response to my call.

I understand that the House of Representatives is considering legislation that would make changes to the patient protections in the Affordable Care Act.

I am particularly concerned about a provision in the legislation that would allow health insurers to charge much higher premiums to Americans with pre-existing conditions.

Some health insurance plans consider Down syndrome to be a pre-existing condition.  Additionally individuals with Down syndrome have a much greater chance of having other pre-existing conditions like cancer, heart disease, and diabetes.

I am also deeply concerned that the bill would eliminate the “essential health benefits” requirement meaning health plans could discontinue coverage for many crucial medical services.

Please tell the Representative about these concerns and ask that they refrain from passing health reform legislation that eliminates these important patient protections and limits the scope of medical services available to our community.

Thank you.”

Megan Bomgaars Champions Celiac Research for Global Down Syndrome Foundation

March 14th, 2016 by Global Down Syndrome Foundation

The Global Down Syndrome Foundation and Megan Bomgaars, star of A&E’s Born This Way, have teamed up to continue the fight for further research of auto-immune disorders. Megan suffers from celiac disease, an auto-immune disorder that affects people with Down syndrome at a rate ten times greater than in the typical population. Megan launched Global’s celiac disease research and awareness campaign at the March 11th I Love You Dance Party where she danced the night away with 150 celebrants and encouraged fellow self-advocates to participate in a simple Down syndrome and celiac disease research program aptly named “Spit to be Fit!”

Through the Crnic Institute’s Grand Challenge Grant Program, Global funds research by Dr. Richard Spritz, M.D., Program Director for the Human Medical Genetics and Genomics Program at the University of Colorado School of Medicine. Dr. Spritz’ research could lead to a test that identifies people with Down syndrome who have the highest risk for celiac disease and other autoimmune disorders including type 1 diabetes, autoimmune thyroid disease, vitiligo, and rheumatoid arthritis. Early detection would allow early intervention and treatment and could have application to the broader population suffering from such autoimmune disorders.

Celiac disease is an autoimmune disorder where the affected individual has a hypersensitivity to the protein gluten—commonly found in wheat, barley and rye—which, when digested, causes damage to the small intestine. In addition to the common uncomfortable symptoms, some celiac sufferers with Down syndrome have symptoms including anemia and behavioral changes. Megan knows the challenges of celiac disease all too well. Though there is no benefit to a gluten-free diet for those without a celiac disease diagnosis, due to the high incidence of celiac disease in individuals with Down syndrome, experts recommend they get screened for the disorder with a simple blood test.

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Feeding Clinic at Sie Center: A Valuable Resource

February 15th, 2016 by Global Down Syndrome Foundation

For over 5 years, the Sie Center has been supporting children with Down syndrome and their families by offering a variety of specialized clinics including the Feeding Clinic.

The Feeding Clinic is comprised of several experts in Down syndrome who conduct an overall assessment and provide a multi-disciplinary, collaborative approach to care. These specialists include a Developmental Pediatrician or Nurse Practitioner, Physical Therapist, Feeding and Swallowing Specialist, and Social Worker. There are times when it is necessary to have nutrition or a lactation specialist come to the Sie Center to consult on a patient as well.

Arwen Jackson

Arwen Jackson

Arwen Jackson, MA, CCC-SLP, a feeding and swallowing specialist at the Sie Center, describes the clinic as an ideal place to come for determining specific strategies and appropriate next steps to assist in safe and efficient eating and drinking. Eating and drinking are both critical issues for children with Down syndrome because they are prone to feeding and swallowing challenges.

“Children with Down syndrome can present with medical conditions that impact breathing, endurance, and digestion. The multi-disciplinary approach of the Sie Center allows families to receive hands on care from multiple specialists in one clinical appointment,” says Jackson.

The feeding clinic takes place once a week on Thursday mornings. They usually see 3-4 patients and appointments last around three hours. Parents can expect to receive supportive strategies and feeding equipment based on the child’s particular needs. Additionally, they will get specific goals and recommendations for type and frequency of therapy when needed. Jackson describes the most rewarding part of a clinic visit as “watching a caregiver smile in response to a successful feeding experience.”

For parents experiencing feeding and swallowing issues, Jackson offers the following guidance as a starting point:

1. Safe and supportive positioning is crucial for the child’s success with oral feeding especially in the presence of low muscle tone.

2. Feeding development is best supported within the context of a typical mealtime routine, when a child is offered foods that match their oral motor skills, and their caregivers pay attention to their child’s verbal and non-verbal communication.

3. Seek help from a feeding and swallowing specialist if you observe coughing or choking during drinking, unexplained respiratory illnesses, concerns with weight gain, overstuffing and pocketing of foods, refusal behaviors, decreased variety and volume of food consumed, delayed attainment of self-feeding skills, or challenges transitioning to cup drinking.

As part of a network of affiliates including the Global Down Syndrome Foundation and the Linda Crnic Institute, the Sie Center for Down Syndrome helps advance the total care of children with Down syndrome by providing excellent medical care, therapy, research and advocacy. For more information visit