Archive for 2023

2023 December GLOBAL Newsletter

December 31st, 2023 by admin

AcceptAbility Gala Announcements, Loving Tribute Video & Gift, Sexuality, Sleep Apnea & More – Your December Newsletter!

Takeaways from a GLOBAL Webinar

Article from the award-winning ​Down Syndrome World magazine​.

Learn more about our magazine, webinars​ and GLOBAL Membership benefits

Sleep Apnea Experts

Earlier this year, GLOBAL organized a webinar on sleep apnea that attracted 420 registrants from 43 states and 13 countries. The webinar covered the latest understanding of the importance of sleep screening across the age spectrum in people with Down syndrome, consequences of untreated sleep apnea, medical treatment options, and surgical treatment options including hypoglossal nerve stimulation.

Dr. Ignacio Tapia and Dr. Rachel Whelan co-presented the webinar, and the hour and fifteen minutes flew by! Dr. Tapia is an attending physician in the Sleep Center/Pulmonary Division of the Children’s Hospital of Philadelphia (CHOP) and Associate Professor in Pediatrics at the Perelman School of Medicine at the University of Pennsylvania. Dr. Tapia’s research interests are specific to Obstructive Sleep Apnea Syndrome (OSAS) in children, clinical trials to treat OSAS in children, health disparities around sleep and OSAS in individuals with Down syndrome. OSAS is the day-time sleepiness and fatigue associated with OSA.

Dr. Whelan is an Assistant Professor of Otolaryngology at the University of Pittsburgh Medical Center (UPMC) and specializes in the treatment of sleep disorders in pediatric and adult patients. She has dual fellowship training in both pediatric otolaryngology and sleep medicine through UPMC and the University of Pennsylvania/CHOP. Dr. Whelan has a particular focus in surgical treatment options for sleep-disordered breathing including nasal, pharyngeal, and neurostimulation surgeries and enjoys caring for patients across the age spectrum.

What is Obstructive Sleep Apnea?

According to the Mayo Clinic, Obstructive Sleep Apnea (OSA) is the most common sleep-related disorder and occurs when the throat muscles relax and block the airway repetitively during sleep. Essentially, people with OSA stop breathing, sometimes for more than 10 seconds, and then start breathing again which negatively affects their sleep and overall health.

In the United States, it is estimated that 15% of adult males and 5% of adult females have OSA, and that it affects 1-5% of all children. Obesity is an independent high-risk factor whereby upwards of 20% of adults and 70% of children with obesity were also diagnosed with OSA.

Generally, it is a bed partner or parent who identifies OSA since snoring is a key symptom. To be clear, many people snore and do not have OSA but snoring, restless sleep, uncommon sleep positions such as sit sleeping, night waking, audible pauses in breathing, dry mouth, headaches, daytime sleepiness, and behavioral problems including mood swings, are all symptoms that should be mentioned to a health care provider, as these may raise concern for possible sleep apnea.

Increased Risk in People with Down Syndrome

Drs. Tapia and Whelan both emphasized that people with Down syndrome are at significantly increased risk through their lifespan for developing OSA, with somewhere between 45-55% of individuals with Down syndrome having Obstructive Sleep Apnea Syndrome (the fatigue, cognitive deficit and behavior issues associated with poor sleep due to OSA).

The increased risk can be attributed to a combination of multiple factors:

  1. Anatomy
  • Midface hypoplasia (narrowing of the upper airway and back of the nose)
  • Glossoptosis and macroglossia (the tongue is larger relative to the jaw) and thus more likely to fall back and block the airflow in the back of the throat
  • Hypotonia (low muscle tone) which also increases collapse of the upper airway
  • Large tonsils and adenoid tissue in the back of the throat and nose, respectively
  1. Co-occurring obesity
  2. Hypothyroidism

Because of this significantly increased risk, the American Academy of Pediatrics (AAP) in the US recommends “evaluation” at age 6 months and a Polysomnography (PSG), overnight sleep study, by age 4 years. Currently there are no medical guidelines specific to adults with Down syndrome (guidelines for the general population are the default) but the Global Down Syndrome Foundation is working on their second edition of the GLOBAL Medical Care Guidelines for Adults with Down Syndrome that will expand five medical areas including recommendations for OSA.

Challenges for OSA Patients with Down Syndrome

Short term, untreated OSA in all patients results in fatigue and mood swings. According to Johns Hopkins University, this can manifest in daytime car accidents, loss of productivity at work, waking up groggy, falling asleep in class, and behavioral issues that make it difficult to study or pay attention to schoolwork.

 It makes sense that lack of a deep sleep and poor-quality sleep is not good for you. But for OSA, the long-term consequences can be dire, including neurobehavioral deficits, increased risk of high blood pressure , metabolic issues such as diabetes, and a possible link with early onset of Alzheimer’s disease.

During the GLOBAL Webinar on sleep apnea, Dr. Tapia highlighted three key challenges that people with Down syndrome face with both the diagnosis and the treatment: (1) there are very few sleep labs (2) The sleep study test is challenging and the majority of children with Down syndrome don’t get the study despite the AAP guidelines, and (3) patients with Down syndrome have had difficulty with adhering to continuous positive airway pressure (CPAP) and many families feel it is unrealistic to expect adherence.

Dr. Tapia also spoke about people with Down syndrome not being invited to participate in research over the last few decades and how that has led to so many unknowns about sleep apnea in the Down syndrome community. He also kindly acknowledged GLOBAL’s great lobbying work in DC that led to the establishment of a National Institutes of Health (NIH) Down syndrome research funding program called INCLUDE.

Dr. Tapia shared that he has received two INCLUDE grants, one of which is targeted at proving that home sleep study tests are not only possible but preferable in children with Down syndrome. This could solve two of the key problems associated with diagnosis of OSA. The study tested 35 patients with Down syndrome between 10 and 20 years of age, and compared at home study results versus lab study results measuring tolerability, family-report sleep perceptions/experience, feasibility, and diagnostic accuracy for moderate-severe OSA.

The majority of participants felt that the home study test was easier and the overall ease of the setup of the home test was an aggregate score of 87%.

The results were recently published in the Journal of Clinical Sleep Medicine:

In terms of the accuracy, 78% of the home studies results correlated with the lab results on the obstructive apnea hypopnea index which is a very good score. Finally, the participants slept longer in the home study than during the lab study.

Dr. Tapia plans to continue his research and to address the following:

  1. What are the beliefs of families using CPAP or BiPAP over a most recent six-month period
  2. Strategies to increase PAP use
  • Meet families where they are
  • Bedtime routine
  • Activities the child enjoys
  • Role modeling

He concluded that families and patients with Down syndrome should redouble their efforts and engage a behavior specialist as his team is seeing a lot of success in patients with Down syndrome using the CPAP and making a huge difference in the patients’ energy level, focus and ability to participate more fully in all areas of life.

 

Treatment of OSA in Patients with Down Syndrome

Dr. Whelan, who is a sleep surgeon treating OSA in the general population as well as children and adults with Down syndrome, discussed treatment options for OSA. She discussed that continuous positive airway pressure (CPAP) is generally the first-line therapy in most adults with OSA. This works by delivering continuous pressure through the nose and/or mouth during the night to keep the upper airway open. While CPAP can be a challenge to acclimate to, CPAP may prove to ultimately be a very effective and well-tolerated treatment option for both children and adults with Down syndrome and OSA. If considering a trial of CPAP for your loved one, it is strongly advised to work with not only a sleep physician, but also a team that includes a behavioral sleep psychologist to help acclimate well to this new device. 

Dr. Whelan discussed that different than in adults, the first-line of treatment for children with OSA in the United States is oftentimes Tonsillectomy & Adenoidectomy, removing the tonsils and adenoids by surgery.

While this surgery significantly improves or cures OSA in about 50% of children with Down syndrome, that still leaves about 50% of patients still having persistent OSA even after surgery. Because each patient has unique anatomy that leads to OSA, additional surgery is sometimes considered, including trimming or reshaping tissues in the nose, tongue, back of the throat, and/or around the voice box. Additional surgical options including weight-loss surgery (bariatric surgery) or skeletal surgery to expand the upper and/or lower jaws may also be considered.

Dr. Whelan agrees that the ongoing social stories sharing success around CPAP and BiPAP adherence is a wonderful success story for our community!

 

New Kid on the Block – Hypoglossal Nerve Stimulation

For non-obese patients that cannot tolerate CPAP or BPAP therapy, hypoglossal nerve stimulation (HNS) has become the newest surgical option to potentially treat OSA in patients with Down syndrome.

Dr. Whelan explained that HNS is like a pacemaker for sleep apnea and is a device inserted into a patient’s chest. There is another incision that sits under the chin and a wire is tunneled under the skin of the neck to connect the two parts of the device. It senses every breath the patient takes and sends electrical stimulations to push the tongue forward so that it does not fall back and block airflow in the back of the throat.

Hypoglossal nerve stimulation surgery is specifically for patients who have not had success with CPAP and who are not obese.

Adolescents with Down syndrome who have received HNS implants have overall done quite well. For the first 20 such patients there was significant improvement in OSA measures (pausing in breathing a median of 24 times per hour down to 3 times per hour) and improvements in speech, cognition, and school performance.

Based on this data, the Federal Drug Administration (FDA) recently approved HNS for 13 years or older patients with Down syndrome with moderate to severe OSA who have tried PAP and have not been successful with it. It is interesting to note that FDA approval in the general population is 18 years and older.

There are other important considerations regarding HNS implantation:

  • The battery life generally lasts 10-12 years so patients require essentially one surgery each decade to replace the battery.
  • MRI compatibility – while there is full body MRI compatibility with the current version of the device, this is a consideration for any patients that have medical conditions that will require frequent MR imaging.
  • If patients gain weight, the device generally becomes less effective.
  • Any time there is hardware, there are risks of infection or electronic failure of the device, which would require removing it.

 

Clinical trials to determine which patients respond best to this therapy are ongoing. Currently, there are five sites nationally enrolling adolescent patients with Down syndrome and OSA and looking at neurocognitive outcomes (focus, attention, executive function) before and after HNS implantation.

Dr. Whelan agrees that the current NIH INCLUDE funding is making a huge difference, allowing clinical researchers such as herself and Dr. Tapia to ask important questions about treatment such as:

  1. What are the patient centered outcomes and is there associated, appropriate neurobehavioral testing?
  2. What is the difference in daytime functioning?
  3. What is the difference in quality of life?
  4. Are there cardiometabolic outcomes?
  5. What are the family-centered outcome results?
  6. What are the risks/benefits for diagnosis and treatment?

 

Conclusions

Patients with Down syndrome are at high risk for sleep apnea. Obesity creates an even higher risk for OSA as well as other diseases so we should do our best to create healthy lifestyles and choices.

Detecting and treating OSA early and effectively can make a big difference in short-term health including behavior, attention and energy, as well as help limit serious long-term health issues such as heart disease, stroke risk and diabetes.

A sleep study is the only way to diagnose OSA and Dr. Tapia’s research is hoping to allow us to perform home sleep study tests rather than requiring an in-lab study, even in children with OSA.

To date, CPAP is the best way to treat OSA and great strides have been made in terms of behavioral interventions that allow children and adults with Down syndrome to tolerate a CPAP machine successfully.

For those who do not have a BMI in the obese range and have not had success with CPAP or BiPAP, there is a new treatment called Hypoglossal nerve stimulation that is very promising.

It is wonderful to envision a future where people with Down syndrome are allowed to and are willing to participate in long-term studies associated with OSA and sleep so that we can create better diagnosis, treatments, treatment supports and amazing health outcomes!

GLOSSARY

Adenotonsillectomy – An adenotonsillectomy is an operation to remove both the adenoids and tonsils; in other words a tonsillectomy and an adenoidectomy done at the same time

CPAP – Continuous positive airway pressure masks and head gear; the most common way to treat Obstructive Sleep Apnea (OSA)

BiPAP/BPAP – Bilevel positive airway pressure is a machine that helps you breathe; the most common way to treat Central Sleep Apnea (CSA), complex sleep apnea or chronic obstructive pulmonary disease (COPD) but can also be used to treat OSA

Glossoptosis – when the tongue is positioned further back in the mouth than normal; Abnormal posterior motion of tongue during sleep leading to OSA

Hypoglossal nerve stimulation – is a treatment for OSA using an implant to stimulate a nerve under the tongue to prevent the tongue from blocking the airway. As of 2023, the only hypoglossal nerve stimulator that is approved by the FDA is the Inspire device.

Hypoplasia – incomplete development or underdevelopment of an organ or tissue. 

Hypothyroidism – also called underactive thyroid, is when the thyroid gland doesn’t make enough thyroid hormones to meet your body’s needs; The thyroid is a small, butterfly-shaped gland in the front of your neck

Hypotonia – decreased muscle tone

Midface hypoplasia – when the upper jaw, cheekbones and eye sockets have not grown as much as the rest of the face.

Polysomnography (PSG) – an overnight sleep study used to diagnose sleep disorders, recording

Obstructive Sleep Apnea Syndrome (OSAS) – excessive daytime sleepiness caused by OSA

brain waves, oxygen levels in your blood, your heart rate and movement

Sleep Apnea, Eye/Vision Care, Solid Tumors, Leukemia, and Physical Therapy Additions are Planned for Second Edition in 2027

DENVER –November 30, 2023

Today, Global Down Syndrome Foundation announced the roster of authors for the second edition of the first evidence-based GLOBAL Medical Care Guidelines for Adults with Down Syndrome (“GLOBAL Adult Guideline”). The first edition was published in JAMA, the Journal of American Medical Association, in October 2020, and is comprised of free checklists/toolkits, a family-friendly version, and translations into Spanish and Japanese. The fifteen authors include Down syndrome experts and the directors of the largest adult Down syndrome clinics in the U.S. Global Down Syndrome Foundation (“GLOBAL”) has also recruited an additional twenty volunteer committee members representing additional Down syndrome medical expertise.

The GLOBAL Adult Guideline Second Edition will provide new and important clinician guidance in the areas of sleep apnea, eye/vision care, solid tumors, leukemia, and physical therapy and fitness. The nine medical topics covered in the first edition will also be updated: behavior, dementia, diabetes, cardiovascular disease, obesity, osteoporosis, atlantoaxial instability, thyroid disease, and celiac disease. GLOBAL, along with an impressive International Advisory Committee, is working to ensure that a family-friendly version, checklists/toolkits, and multiple language versions will be published shortly thereafter.

Atlantoaxial Instability spread

“We are so pleased to be able to expand this important resource for our adults with Down syndrome,” says Bryn Gelaro, Senior Director of Research & Medical Care at GLOBAL. “The work can be very difficult given the lack of historical research but creating a 5-6 year cycle where we can dependably update new editions of this guideline is so rewarding. It is also an honor to be working with our brilliant authors and medical committee members.”

The Authors in Alphabetical Order:

  1. Peter Bulova, MD – Professor of Medicine; Medical Director, University of Pittsburgh Adult Down Syndrome Center; Co-Director, Magee Center for Women with Disabilities, University of Pittsburgh Department of Medicine, Pittsburg, PA
  2. George Capone, MD – Associate Professor of Pediatrics; Director, Down Syndrome Clinic and Research Center, Medical Director, Pediatric Feeding Disorders Program, Kennedy Krieger Institute, Baltimore, MD
  3. Brian Chicoine, MD – Medical Director and Co-Founder, Advocate Medical Group Adult Down Syndrome Center, Park Ridge, IL
  4. Joaquín Espinosa, PhD – Executive Director, Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO
  5. Terry Harville, MD, PhD, D(ABMLI), D(ABHI) – Professor of Internal Medicine, in the Division of Hematology/Oncology; Medical Director, HLA and Histocompatibility Laboratory; Medical Director, Immunogenetics and Transplantation Laboratory, University of Arkansas for Medical Sciences, Little Rock, AR
  6. Christine Heubi, MD – Surgical Director, Complex Obstructive Sleep Apnea Center; Assistant Professor, UC Department of Otolaryngology, Head and Neck Surgery, University of Cincinnati, Cincinnati, OH
  7. Vishal Jhanji, MD – Professor of Ophthalmology at the University of Pittsburgh School of Medicine, University of Pittsburg Department of Ophthalmology Pittsburgh, PA
  8. Barry Martin, MD – Associate Professor of General Internal Medicine, University of Colorado School of Medicine; Medical Director, Adult Down Syndrome Clinic at Denver Health, Denver, CO
  9. Emily McCourt, MD – Chief of Pediatric Ophthalmology; Vice Chair of Pediatric Ophthalmology; The Ponzio Family Chair for Pediatric Ophthalmology, Children’s Hospital Colorado, Aurora, CO
  10. Lina Patel, PsyD – Associate Professor, Department of Psychiatry; Director of the Down Syndrome Behavioral Health Collaborative, University of Colorado School of Medicine, Anschutz Medical Campus, Aurora, CO
  11. Moya Peterson, PhD, ARNP – Clinical Professor, School of Nursing; Co-founder and Medical Director, Adults with Down Syndrome Specialty Clinic, University of Kansas Medical Center,
  12. Michael Puente Jr, MD – Assistant Professor, Ophthalmology, School of Medicine, University of Colorado Anschutz Medical Campus; Director of Medical Student Education, Aurora, CO
  13. Mike Rafii, MD, PhD – Professor of Clinical Neurology; Medical Director of the Alzheimer’s Therapeutic Research Institute; Alzheimer’s Clinical Trials Consortium – Down Syndrome Principal Investigator, Keck School of Medicine of University of Southern California, Los Angeles, CA
  14. Carl Tyler, MD – Professor of Family and Community Medicine at Cleveland Clinic Lerner College of Medicine, Case Western Reserve University School of Medicine; Executive Board, American Academy of Developmental Medicine and Dentistry, Cleveland, OH
  15. Anna Marie White, MD, FACP, FAAP – Clinical Assistant Professor of Medicine and Pediatrics; Medical Director, Street Medicine Pitt, University of Pittsburgh Medical Center, Pittsburgh, PA

GLOBAL has worked with Congress and the National Institutes of Health (NIH) since 2006 advocating for a trans-NIH Down syndrome research funding program and for increased funding. In December of 2010, GLOBAL and the NIH co-organized the first Down syndrome research conference with a focus on registries and biobanks. One important result was the establishment of DS-Connect®: The Down Syndrome Registry at the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD).

GLOBAL has published both an 80-page guideline for medical professionals and a family-friendly version in Spanish in collaboration with El Centro de la Universidad Católica de Síndrome de Down in Chile and in Japanese in collaboration with the Japan Down Syndrome Association.

To learn more about the GLOBAL Adult Guideline and download your copy today, visit www.globaldownsyndrome.org/medical-care-guidelines-for-adults/

To learn more about Global Down Syndrome Foundation, visit www.globaldownsyndrome.org

 

# # #

About Global Down Syndrome Foundation

The Global Down Syndrome Foundation (GLOBAL) is the largest non-profit in the U.S. working to save lives and dramatically improve health outcomes for people with Down syndrome. GLOBAL has donated more than $32 million to establish the first Down syndrome research institute supporting over 400 scientists and over 2,400 patients with Down syndrome from 33 states and 10 countries. Working closely with Congress and the National Institutes of Health, GLOBAL is the lead advocacy organization in the U.S. for Down syndrome research and care. GLOBAL has a membership of over 100 Down syndrome organizations worldwide, and is part of a network of Affiliates – the Crnic Institute for Down Syndrome, the Sie Center for Down Syndrome, and the University of Colorado Alzheimer’s and Cognition Center – all on the Anschutz Medical Campus.

GLOBAL’s widely circulated medical publications include Global Medical Care Guidelines for Adults with Down Syndrome, Prenatal & Newborn Down Syndrome Information and the award-winning magazine Down Syndrome World TM . GLOBAL also organizes the Be Beautiful Be Yourself Fashion Show, the largest Down syndrome fundraiser in the world. Visit globaldownsyndrome.org and follow us on social media (Facebook & Twitter: @GDSFoundation, Instagram: @globaldownsyndrome).

IMPORTANT NOTICE

While content of this press release and the GLOBAL Guideline was developed by GLOBAL and the GLOBAL Guideline Authors, we are unable and do not intend to provide medical advice or legal advice to individuals. Please contact your health care provider(s) or legal advisor(s) for questions specific to your individual health history or care.

Press Contact

Anca Call: acall@globaldownsyndrome.org, 720-320-3832

 

 

ROBERT ADERHOLT (R-AL)

Rob Aderholt photo

Bi-Partisan Support for Down Syndrome!​

Government Profiles from the award-winning ​Down Syndrome World magazine​.

Learn more about our magazine, webinars​ and GLOBAL Membership benefits

Common-Sense Solutions for Alabama

In his 14th term representing Alabama’s fourth congressional district, Robert Aderholt is an advocate for fiscal responsibility, truth in budgeting and federal government operating within its means.Robert Aderholt is a strong supporter of his community, district and the state of Alabama. He believes the federal government serves an essential role in assisting state and local governments with economic development.

From his position on the powerful House Appropriations Committee, Rep. Aderholt supports job creation, strong immigration standards and robust national security. He is the Chairman of the Appropriations Subcommittee on Labor, Health & Human Services and Education, which is responsible for the largest non-defense portion of the entire federal budget. He is also a member of the Commerce, Justice and Science Subcommittee and the Defense Subcommittee.

Rep. Aderholt also chairs the Values Action Team, a Congressional Member Organization in the House of Representatives focused on promoting families, communities and religious freedoms.

Additionally, Rep. Aderholt is a member of the Commission on Security and Cooperation in Europe. Commonly known as the Helenski Commission, the group was founded in 1976 and is comprised of 56 countries around the world working together to monitor human rights in Europe and Central Asia.

Rep. Aderholt is a member of the U.S. Congressional Down Syndrome Caucus and continues to support the disabled community through his efforts to sustain and prolong the viability of our Social Security system.

TAMMY BALDWIN (D-WI)

Driving the Nation Forward

Tammy Baldwin was elected Wisconsin’s first female congressional representative in 1998 and went on to become the state’s first female senator and the country’s first openly gay senator in 2012.

Senator Baldwin has dedicated her career in public 

service to fighting for fairness, equality and economic opportunity for all. She was introduced to the inequities in our healthcare system at 9 years old when she was diagnosed with a serious illness and her grandparents, who were also her guardians, were unable to list her on their insurance. Baldwin’s grandparents were forced to pay out of pocket for her treatment and were subsequently unable to purchase any health insurance for her because she was labeled with a preexisting condition.  

Years later, Baldwin went on to champion the Affordable Care Act, which protects Americans from being denied health insurance coverage because of a preexisting condition.

In 2021, Baldwin joined colleagues to introduce the Better Care for Better Jobs Act, which expanded access to home- and community-based services for seniors, people with disabilities and injured workers, while increasing pay and improving benefits for caregivers.

Baldwin is committed to working across party lines to strengthen the pillars of economic security for working families: investments in education and workforce readiness, a strong “Made in Wisconsin” manufacturing and agriculture economy, and quality healthcare for all Americans.

Senator Baldwin serves on the Senate Committee on Health, Education, Labor and Pensions, the Senate Committee on Commerce, Science, and Transportation and the Senate Appropriations Committee. She is also Chair of the Senate Appropriations Subcommittee on Agriculture, Rural Development, Food and Drug Administration and Related Agencies.

2023 November GLOBAL Newsletter

November 28th, 2023 by admin

Fashion Show Photos, New Adult Guideline Authors, Sie Center 10 Year Study, Christmas Giving Machines And More – Your November Newsletter!

Kevin McKidd & Danielle Savre Make Red Carpet Debut

November 22nd, 2023 by Cole Wilkes

The Star-Studded Be Beautiful Be Yourself Fashion Show

November 22nd, 2023 by Cole Wilkes