DAVID: Thank you for taking time out of your busy day to speak with me today. So excited to learn more about your important work. My first question is, how did you end up running a Down syndrome organization?

TERRI: My son was born in 2001. There was another group in the area that is still around and we’re very friendly with them, but at the time that group was focused on young teenagers and they really weren’t doing anything for young children. So, in 2003, 4 of us – all moms – started KIIDS. I started as co-chair but have only been off the board for 2 years since then.

DAVID: And remind me what does KIIDS stands for?

TERRI: Knowledge & Information about Individuals with Down Syndrome, though we’ve recently changed the name.

DRIA: I founded KIIDS when I moved to New Jersey in 2011, when my daughter with Down syndrome was heading into kindergarten. It was the first time since she was born that I really had the chance to take a breath, get my head above water, and take advantage of all the great opportunities and activities for her. Eventually, I found my way to KIIDS. Terri and I really clicked and we’ve been co-chairing for years.

DAVID: Tell us about your decision to change your name from KIIDS to DSANJ.

DRIA: It’s something that we kicked around for a couple of years. Going back to when I moved here, it took me awhile finding KIIDS. It wasn’t the easiest acronym to understand. During the pandemic, Terri and I were kicking around how to move from more of a social group to a professional nonprofit. Our constituent group had grown and widened. The children we started with are now young adults. We needed to have a name that better reflects what we do and that is easier for people to find and recognize what we do. It also helps with grant applications. The new name fits the protocol used by most groups nationwide and is easier to find online. We took the opportunity to have a designer fully overhaul our website, to make it much more usable and robust.

DAVID: Is your focus on adults as your population is growing part of the reason you and your board wanted to support the GLOBAL Adult Guidelines with a multi-year pledge?

DRIA: Yes, definitely. Our ages have widened so much. We had to stop and step back for a moment and realize that we have a lot of members over age 20, so we need to expand our activities and what we offer. We also partner with Nancy Hennefer and BUDS, because we have a lot of overlap and they have quite a significant adult population.

TERRI: As we’re doing more partnership activities with BUDS, we’re seeing a lot more people in their 30’s. We don’t know everything that’s going to be needed as this population ages, because there’s not a lot of research or clinical knowledge out there.

DAVID: You’re right. There’s only about a dozen adult Down syndrome clinics in the country, and most of those have severely limited hours or won’t see patients from out of state. GLOBAL has created and is continuing to add medical areas to the guidelines. Today, any healthcare provider anywhere can go online and find our peer-reviewed, evidence-based resource and understand how to better serve their patients with Down syndrome.

TERRI: It is so needed.

DRIA: We’ve pushed the Guidelines out. For those families who are paying attention and are aware, I’m sure it’s very helpful. We want to get it into more hands.

DAVID: Beyond the Adult Guidelines, how does GLOBAL’s research and medical care work make a difference to families in your community?

DRIA: We have a group that it definitely makes a difference for and a group that we’ve yet to reach. I remember the first time I went to the GLOBAL Research & Medical Care Roundtable at the NDSC Convention – I was blown away with the information and resources and depth of knowledge. More and more of our families have gone to the Roundtable over the years and that has been their introduction to GLOBAL. Those are the families that attend the webinars and read the materials and benefit. For those who don’t attend, they’re missing out.

TERRI: I think a lot of people don’t look for information until they need it, which is probably human nature.

DAVID: So many people get their information from social media these days. One thing you might want to consider is when you see a post about the Adult Guidelines, the Prenatal & Newborn Pamphlet, the various research studies, or other information you’d like your families to see, share it on your page.

DRIA: When I think about what had the biggest impact – what put GLOBAL on the map for our families – it was the Congressional hearing and Frank Stephens’ testimony (https://www.youtube.com/watch?v=D_DfwMxEwDM). Many of our families had heard of GLOBAL and knew about GLOBAL in a general sense. But Frank’s testimony was so impactful. It really brought the message home to a lot of our families that research is crucial. Hearing “self-advocate”, “congressional hearing”, “NIH”, and some of the funding numbers discussed was really impactful.

DAVID: Frank did an amazing job. We’re blessed to have him as a member of our Board. My last question is, do you have any advice to share parents – either new or those with a bit more experience?

TERRI: My biggest advice for parents is just get involved. Go to the events. Talk to new parents and old parents because that’s how we learn. We learn so much just by communicating with other parents through every stage of life. I’ve always learned by talking to someone who is a year or two ahead of me on this journey.

DRIA: Get involved and know there’s an amazing community out there for you. It’s so easy to stay in your own bubble, especially in those early, scary days. Get involved with other families. Check out the groups that are there and see what’s a good fit for your family. There are so many resources out there, like GLOBAL, and in the wider disability community, too. You’ll find reassurance, acceptance, and understanding. One of our goals with DSASNJ is to broaden the network of disability rights organizations we work with beyond the Down syndrome community. It really helps when working with school districts and the community.

DAVID: Particularly when you’re talking about advocacy on the state and federal level. Any meaningful change that has occurred over the years in disability rights has been by people working together. Thank you both for your time. You’re doing amazing things and paying it forward. It’s like you said, Terri – we’re now the more “seasoned” parents, but we learned it from those who came before us and now we need to pass it on to those coming behind us.

TERRI: When my son, Michael, was born, I was told that I was going to meet the best people and I thought, “I don’t need anymore friends,” but now I don’t know what I would do without this community.

DAVID: Your group supported the first edition of the GLOBAL Medical Care Guidelines for Adults with Down Syndrome (GLOBAL Adult Guidelines). Why is supporting the second edition of the guideline with a multi-year pledge important to you and your board? 

ERIN: I have an adult brother with Down syndrome, who’s 37. I’ve known people with Down syndrome my whole life and I’ve watched them age. That, in conjunction with being the leader of a Down syndrome association, I have witnessed first-hand the challenges that the healthcare system faces and that families face in finding good, reliable, competent care for people with Down syndrome, especially adults. So, to me it’s a “no brainer” to invest in research and tools that will improve healthcare for adults with Down syndrome and bring awareness of the importance of funding that helps everyone.

We had discussions on my board about how our investment in the GLOBAL Adult Guideline directly impacts people in St. Louis and we said it positively affects people with Down syndrome everywhere. It’s a tangible tool we can use right here in St. Louis to improve healthcare for adults with Down syndrome. I’m really grateful that GLOBAL is doing the work and leading the way in doing the work because I don’t know who else would do it—otherwise it just wouldn’t get done. It’s absolutely a priority for us.

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

2. Co-occurring obesity
3. 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