Archive for June, 2017

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.”

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.

WHAT IS DYSPHAGIA?
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.

HOW IS DYSPHAGIA DIAGNOSED?
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.

HOW CAN I HELP MY CHILD WITH A SWALLOWING PROBLEM?

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.

PARENT TIPS FOR SWALLOW STUDIES

BEFORE THE STUDY:

• 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.

DURING THE STUDY:

• 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.

AFTER THE STUDY:

• 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.

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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 bit.ly/global-medical-care.

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.

References

• 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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June 20, 2017, Denver  | Global Down Syndrome Foundation (Global) is committed to protecting and advancing lifesaving and life-changing medical care and research that will significantly improve the health outcomes and quality of life for people with Down syndrome.

To this end, we are asking our families, friends and supporters to contact your Representatives today and urge Congress to work with our President to restore or increase federal funding for the National Institutes of Health (NIH) in fiscal year 2018. We are thrilled to have many of our national and international colleagues join Global in this ask: the National Down Syndrome Congress; LuMind Research Down Syndrome Foundation; Down Syndrome Affiliates In Action; International Down Syndrome Coalition; and the International Mosaic Down Syndrome Association.

Our Down syndrome community is made up of people from every background and political party. And our community deeply appreciates the leadership of our Republican and Democratic friends and allies in Congress in their effort to advocate for increased federal funding for the NIH, which conducts important research on Down syndrome and many other diseases and conditions that affect people with Down syndrome. Together, we want to make sure that the NIH continues to have sufficient funding to carry out its work, including Down syndrome research that is just beginning to regain momentum after two decades of flat funding.

Thanks to the dismantling of inhumane institutions where most people with Down syndrome were placed and increased access to medical care and local public schools, people with Down syndrome are living longer than ever: life expectancy has more than doubled from 25 years in 1983 to almost 60 years today. While this is encouraging, it also presents new challenges to ensure that people with Down syndrome receive the appropriate medical care they deserve throughout their lives. While people with Down syndrome are protected from certain solid tumor cancers, heart attacks and strokes, they are at higher risk for other diseases such as Alzheimer’s disease, certain blood cancers, and immune disorders. About 30% of people with Down syndrome also experience mental illnesses such as depression, obsessive-compulsive disorder, and conduct disorder, a rate which is notably higher than the general population.

Clearly, additional federal research is needed to advance our understanding of why people with Down syndrome are predisposed to certain ailments and protected from others. This will help us to understand and apply the best medical care for people with Down syndrome and also stands to help treat or cure the most prevalent diseases found in this population such as Alzheimer’s disease, heart disease, and cancer.

Please contact your Representatives today and urge Congress to work with our President to restore or increase federal funding for the NIH in fiscal year 2018. It is not only imperative for the well-being of people with Down syndrome, but all Americans!

Sample Message:

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

I’m a volunteer and advocate for people with Down syndrome. I am deeply concerned regarding our government’s budget request that would drastically cut to federal funding for the National Institutes of Health in fiscal year 2018. I am urging Representative __________ to oppose these proposed cuts and instead to increase funding for NIH. This support will advance lifesaving and life-changing scientific research that will significantly improve the health outcomes and quality of life for people with Down syndrome.

Please restore and increase funding for NIH. It is not only imperative for the well-being of people with Down syndrome, but all Americans!

Thank you.”

Joe Manganiello Supports Global Down Syndrome Foundation

Global Down Syndrome Foundation is a founding member of the T21 Research Society.  The Society is the first non-profit scientific organization of researchers studying Down syndrome, founded to promote basic and transnational research on Down syndrome and to apply new scientific knowledge to develop improved treatments and cures. After hosting a successful first conference in Paris, the society hosted a second conference in Chicago from June 7^th to 11^th.  A number of Global affiliated scientists and scholars were invited to present their groundbreaking research:

Joaquin Espinosa, PhD
Associate Director for Science at the Global affiliated Linda Crnic Institute for Down syndrome
Understanding Down syndrome as an Interferonpathy: Espinosa’s explains the implications for the understanding of leukemia and other co-morbidities driven by trisomy 21

Ann-Charlotte Granholm-Bently, PhD
Researcher for the Down Syndrome-Alzheimer’s Disease Investigator program powered by Global, Linda Crnic Institute and the National Alzheimer’s Association
Novel mechanisms in Down syndrome pathophysiology: Designer receptors reveal an important role for noradrenergic systems in Down syndrome pathology

Roger Reeves, PhD
T21 President and a member of the Scientific Advisory Board for the Linda Crnic Institute for Down Syndrome
Breakthrough and oral communication sessions: Reeves lecture focuses on a specialized pro-resolution mediator approach to chronic inflammation in the Ts654Dn mouse model of Down syndrome

Katherine Waugh, PhD
Postdoctoral Fellow for the Crnic Institute
Flash Poster Presentation: Waugh’s presentation includes extensive perturbations of the immune system among individuals with Trisomy 21

Michelle Sie Whitten
Global President and CEO
Medical Policies for people with Down syndrome: Whitten discusses medical care for adults with Down syndrome and lifting barriers

Donna Willcock, PhD
Researcher for the Down Syndrome-Alzheimer’s Disease Investigator program powered by Global, Linda Crnic Institute and the national Alzheimer’s Association
Biomarkers of Alzheimer’s disease in Down syndrome: Wilcock shares how individuals with Down syndrome who have Alzheimer’s disease have a distinct neuroinflammatory phenotype compared to sporadic Alzheimer’s disease

Because Down syndrome research has generated findings that affect thinking regarding research on Alzheimer’s disease and solid tumor cancers, T21RS creates another forum for drawing attention to the need for further funding for Down syndrome research, which could in turn benefit everyone’s lives. Global and the Crnic Institute are at the forefront of this research and look forward to helping place a greater emphasis on collaborations worldwide.

The conference that presents the latest scientific developments in the field of Down syndrome research is powered by a dynamic team of scientists, researchers, and scholars from across the world:

Conference Organizers:

Roger Reeves, PhD
Johns Hopkins University School of Medicine

Jean Delabar, PhD
CNRS-ICM

Mara Dierssen, MD, PhD
CRG-Center for Genomic Regulation

John O’Bryan, PhD
University of Illinois Chicago

Scientific Program Committee:

Mara Dierssen, MD, PhD- Chair
CRG-Center for Genomic Regulation

Anita Bhattacharyya, PhD
University of Wisconsin-Madison

Cynthia Lemere, PhD
Harvard Medical School

Jean Delabar, PhD
CNRS-ICM

Dean Nizetic, MD, PhD
Nanyang Technological University Singapore

Jorge Busciglio, PhD
University of California-Irvine

Nicole Schupf, PhD, DrPH
Columbia University Medical Center

Pablo Caviedes, MD, PhD
University of Chile

Deny Menghini, PhD
Bambino Gesu Children’s Hospital

For more info on T21RS, visit T21RS.org.