Archive for the ‘Blog’ Category

For many families, the threat of Down Syndrome Regression Disorder (DSRD) feels harrowing and constant. Gratefully, two scientists are leading the charge to understand and treat this heartbreaking condition, and thanks to one relentless mom/advocate, they’re working together.

Crnic Institute Executive Director Dr. Joaquin Espinosa and Children’s Hospital Los Angeles Director of Neuroimmunology had no idea they had been developing complementary research on DSRD until mom Linda Roan of Boulder, CO connected the dots for them. The two scientists joined forces to create the first-ever randomized clinical control trial to treat DSRD and secure its funding through NIH’s INCLUDE initiative.

“You hear the phrase ‘it takes a village’ a lot,” says Linda, “Global has been the leader in the village that has put recognition, funding, and advocacy for Down Syndrome Regression Disorder on the map.  Global’s lobbying and funding for DS research has made all the difference.  Miah is doing well largely due to the Crnic Institute, and we wouldn’t have Crnic without the vision of Michelle Sie Witten and Global.  I can’t thank them enough.”

“So many people helped me get better,” Miah shares, “My mom says that Global, who puts on the dances I love, is the same group that has made a big difference in helping my brain.  I really want to thank them.”

GLOBAL is so proud to support this brilliant work that is helping so many of our loved ones finally “wake up” again after descending into regression. We are just as proud to fight for the continued funding of INCLUDE, which makes life-saving research and clinical trials possible.

Read the full Washington Post article.

Learn more about this groundbreaking clinical trial.

 

   When the Down Syndrome Association of Southern New Jersey (DSASNJ) was formed in 2003, the small group of founding parents were focused on supporting their young children with Down syndrome. As those children have grown and blossomed over 20 years, DSASNJ has grown to service individuals and families from the prenatal stage to adulthood. The organization proudly serves over 120 families across the Southern New Jersey region.

Earlier this month, GLOBAL Vice President – Strategic Alliances, David Tolleson, met with Terri Bank and Dria Law, Co-Executive Directors of the DSASNJ, to discuss their work to build community and why they strongly support GLOBAL’s mission and resources, including the Medical Care Guidelines for Adults with Down Syndrome.

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.

 

GLOBAL Webinars en Español Abril 2024

April 30th, 2024 by Cole Wilkes

Actualizaciones importantes de las pautas de atención médica para niños con síndrome de Down


Resumen

En este importante webinar, la Dra. Karla Adney Flores habló sobre: ¿Qué recomendaciones de la guía de 2022 son diferentes a las anteriores? ¿Qué es lo último en atención pediátrica para el síndrome de Down? ¿En dónde pueden acceder a la guía en español las familias y los médicos?


Presentación de Diapositivas: Haga click aquí 


Dra. Karla Adney Flores es Pediatra del Instituto Nacional de Pediatría. Realizó su posgrado en Atención Integral al Paciente Pediátrico con Síndrome de Down avalado por la UNAM. Tiene un Diploma en Tanatología y Consejería, y una Maestría en Ciencias. Actualmente es Jefa de Servicio de la Clínica para Niños con Síndrome de Down del Instituto Nacional de Pediatría, y Profesor de Alta Especialidad avalado por el Tec de Monterrey. Es fundadora y miembro de Red Down México. La Dra. Adney Flores se enorgullece de ser Miembro del Grupo de Interés Médico del Síndrome de Down y Miembro del consejo editorial internacional de la Revista Internacional del Síndrome de Down España.


Este seminario web es uno de los muchos beneficios asociados con la membresía de GLOBAL Down Syndrome Foundation. Obtenga más información sobre la galardonada revista de GLOBAL, Down Syndrome World™ , y cómo convertirse en miembro de GLOBAL hoy.


Si tiene un familiar o un amigo querido con síndrome de Down, convertirse en miembro de GLOBAL hoy.


Aviso importante Los empleados y/o voluntarios de GLOBAL Down Syndrome Foundation NO actúan como su profesional médico o abogado. Las respuestas que reciba por correo electrónico, teléfono o de cualquier otra manera NO crean ni constituyen una relación médico-paciente o abogado-cliente entre usted y GLOBAL Down Syndrome Foundation (GLOBAL), o cualquier empleado u otra persona asociada con GLOBAL.

La información recibida de los empleados o voluntarios de GLOBAL, o de este sitio web, NO debe considerarse un sustituto del consejo de un profesional médico o abogado. GLOBAL NO brinda ningún asesoramiento médico o legal. Debe consultar con su propio médico o abogado para obtener asesoramiento médico o legal. Este sitio web es un servicio general que proporciona información a través de Internet. La información contenida en este sitio web es información general y no debe interpretarse como consejo médico que deba aplicarse a situaciones fácticas específicas.

Under Erin Suelmann’s leadership, the Down Syndrome Association of Greater St. Louis (DSAGSL) has become one of the largest local Down syndrome organizations in the United States. In 2023 the organization raised over $1 million in support of over 2,000 families and expanded their impactful programs and services. Erin and her team have maintained an A+ rating from the Better Business Bureau and met all 20 BBB Charity Accountability Standards. A strong believer in financial transparency, DSAGSL invites you to view their latest Annual Report and see exactly how their sponsorship of the GLOBAL Medical Care Guidelines for Adults with Down Syndrome fits into their tight yet highly effective budget. 

Recently, GLOBAL’s Vice President of Strategic Alliances, David Tolleson, caught up with Erin for an exclusive interview about the importance of the GLOBAL Adult Guideline, how having a brother with Down syndrome shaped her life, and her advice and hopes for healthcare support for all individuals with Down syndrome.

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.

DAVID: DSAGSL is very strict about how you use your money. How does giving to the GLOBAL Adult Guideline fit into your criteria?

ERIN: Our mission is to serve, support and celebrate the lives of individuals with Down syndrome and their families through every stage of life. We believe that healthcare is essential in ensuring that people with Down syndrome can live long lives and fulfill their potential. We don’t have capacity to do what GLOBAL is doing in terms of creating the healthcare guidelines—I wouldn’t even know where to begin! We really believe in doing what we do well and partnering with and supporting agencies that are doing what they do well. GLOBAL has definitely shown that it is really good at advocating for healthcare for people with Down syndrome, which directly impacts the people we serve, so by supporting GLOBAL we’re improving healthcare for them. The GLOBAL Adult Guidelines don’t just support people in Colorado or Denver, they support people across the globe.

DAVID: You mentioned your brother. How does being a sibling impact your work?

ERIN: Oh gosh, I am who I am because of my brother. From a really early age I was cheering for the underdog and I was recognizing injustices, inequalities, and inequities. I was taking notes of how people with disabilities were being treated. I also developed a lot of patience because I have a brother with a disability. I have a lot of core memories of experiences that made me who I am. So, I take that to work with me every day and I feel really honored that I get to work in a field where I get to try to make a better world for people with Down syndrome. Whether it’s advocacy, creating programs where they are learning skills, or raising awareness about Down syndrome, everything that I do day-to-day has been impacted living with him and the great lessons he’s taught me. I’m blessed to be able to make a difference.

DAVID: How is the GLOBAL Adult Guideline making a difference in St. Louis?

ERIN: We use the Guidelines in our “Ages and Stages” packet. A few years ago, we realized families call us when they need something right away, so we thought a great way to help them would be to send them information before they need it—whether it be potty training, behavior in school, puberty, and so on—so we send out these packets at key milestones in life. The goal is that the family has the information they need before a crisis moment. We send out the GLOBAL Adult Guideline in our “16 Turning 17” packet, so all the families with a child turning 17 get that information. It helps them prepare and be better advocates for their loved ones. It helps people with Down syndrome be better advocates for themselves in the healthcare setting.

We’ve done some webinars with GLOBAL and we share GLOBAL Webinars. The GLOBAL Webinars attract the leading medical experts and are real tools that we give to people to improve healthcare for their child with Down syndrome or for themselves. In addition, last year we sent packets to healthcare professionals—something we plan to continue—in an effort to empower them to better serve people with Down syndrome. We sent the GLOBAL Adult Guideline to medical professionals along with a magnet talking about how they can get more information from our website. So, the guidelines are really directly impacting people in St. Louis.

DAVID: How does GLOBAL’s advocacy, research, and medical care work make a difference to families in your community?

ERIN: We can do what we can on a local level. We have access to local, county, and state leaders to improve the lives of people with Down syndrome, but I don’t have the capacity as one person to go to the National Institutes of Health (NIH) to advocate for improved healthcare or improved funding of research. Nor is that the best use of my time—my time is about serving people in St. Louis. It’s important that organizations like GLOBAL exist to do that work. It’s good that Michelle, you and the GLOBAL team are at the NIH advocating, because you have the expertise and the access to professionals and the experts, and that is GLOBAL’s mission. That leaves me able to focus on the people in my region and rest assured that that federal advocacy work is taking place through an organization that is really equipped to do that work well. I would not be able to do it, so I’m really grateful to GLOBAL that you’ve made that your mission and that you’re doing it really well, taking it very seriously, and having the experts behind you.

DAVID: Do you have any advice for adults navigating the healthcare system?

ERIN: I think my advice would be that you have to come equipped with the knowledge and, in many cases, you have to educate your doctor, which is not the way that it should be. Hopefully, organizations like DSAGSL and GLOBAL can continue to help educate healthcare professionals, but for right now—especially if you live in rural communities or communities that don’t have a Down syndrome center or research university, you really do have to take it upon yourself. You have to arm yourself with the knowledge, best practices and things like the GLOBAL Adult Guideline, because your physician can’t always know everything. It’s also about finding a doctor who will listen to you. If you feel like your doctor is not taking you seriously and they’re not willing to listen to you and/or go the extra mile to learn outside of that 15-minute visit, then you have the wrong doctor and you need to find a better one. It should be a partnership. Even if they don’t know everything, they should be willing to learn, take you seriously and read the materials you bring them.

I also think that finding community through your Down syndrome association, connecting with other individuals with Down syndrome and their families, so you can share resources and recommendations on doctors, would be my advice. That’s also true for any kind of specialty care. We really have to advocate for ourselves. 

DAVID: What are your hopes for the future in healthcare? 

ERIN: I think if I had to envision a perfect world as far as healthcare and Down syndrome are concerned, my goal would be that every physician would know about Down syndrome and would have gotten more education about it in medical school. We hear from doctors that they get 15 minutes to an hour during their entire medical training about Down syndrome, which needs to change because there are going to be more and more people living with Down syndrome. It’s not an uncommon condition, so why shouldn’t doctors know about it and have that be a part of their regular curriculum in medical school? A family shouldn’t have to go into a doctor’s visit and be an interface with a physician who has never learned about Down syndrome or even seen anybody with Down syndrome. That’s why in St. Louis I say our goal should be that everybody knows somebody with Down syndrome.

Every doctor should have the opportunity to meet someone with Down syndrome because then that diagnosis delivery will be better. It won’t be so heart-wrenching for families when they receive the diagnosis. Families won’t be discouraged, because they won’t have to go into a medical visit where the doctor doesn’t want to listen. Normalizing Down syndrome in the medical community means there can be more equitable care. We have a lot of work to do at the intersection of minorities and disabilities. The medical community needs to do better in treating people in traditionally underserved groups and in rural communities and that’s just magnified by someone having a disability. So, there’s a lot of work to be done.

DAVID: We’re very grateful for your time and for your support of GLOBAL’s work. Is there anything else you would like to share with our readers?

ERIN: It’s really exciting that we’re going to be celebrating our 50th anniversary in 2026!

DAVID: That’s wonderful!

ERIN: Yes, we have some really exciting things planned! Our success comes from our partnership and collaboration with other Down syndrome associations and national groups as well. The more we can support each other, the more we can lean on each other for the expertise that one another bring to the table or rely on someone who does something really well, like GLOBAL and the Adult Guideline, we’re all going to more successful as a result.

I really appreciate the national groups like GLOBAL and DSAIA that allow us to share, communicate and collaborate. I’ve learned so much from other organizations like yours and so many others across the country. I’m excited that GLOBAL is doing this piece on the local affiliates because there are a lot of really good associations across the country doing exciting work and making the world a better place!  

 

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

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.

Connor Long & Josh Peck: A GLOBAL Bromance

October 31st, 2023 by admin

The two wildly accomplished young men bond over a shared motto: “I don’t do nervous. I do excited and I do prepared.”

From Down Syndrome World Issue 3, 2023

Last year’s Be Beautiful Be Yourself Fashion Show brought together two celebrities— alum Connor Long and newcomer Josh Peck. Paired for a red-carpet photo shoot, the two bonded instantly and the chemistry was off the charts— the photos speak for themselves! Almost a year later, Josh and Connor remember their time together as unusually organic and an absolute blast.

“I think we could have stood there for another hour,” Josh recalls with a smile in his voice. “We asked for a couple more backdrops, but they didn’t have ‘em.”

Connor was happy to share that the feeling was mutual.

“Josh was amazingly nice and incredibly fun to be around,” says Connor, “he would be great to work with! Hint, hint.”

It’s easy to see why the two hit it off— they’re both incredibly good-natured, not to mention well-rounded, dedicated professionals, who are successful in their work. Connor is a stage, screen and voice actor, Emmy award-winning journalist, athlete, speaker and self-advocate, and Josh is a beloved actor, comedian, author, and social media influencer. While they both come from very loving environments, their upbringings were remarkably different.

Connor grew up in Maryland with his parents and sister Karlyn before moving to Colorado when he was young. For as long as Connor can remember, he enjoyed opportunities to thrive in school and in sports and employed his stellar work ethic to make the most of them. When adversity did rear its head, Connor’s parents were there to advocate on his behalf.

Josh was raised as an only child in New York City by a devoted single mother who has always unrelentingly insisted that he has “the sparkle” for show business. By age 10, Josh had an agent and was performing matinee stand-up sets at iconic New York comedy clubs like Caroline’s. He spent his teen years in Los Angeles making the country laugh on Nickelodeon’s The Amanda Show and Drake & Josh.

What Connor and Josh do share, in addition to rich resumes and palpable charisma, is a deep resonance with Connor’s personal motto: “I don’t do nervous. I do excited and I do prepared.”

RISING TO THE OCCASION

Connor credits that mindset as a crucial aid to his many forms of success, from performing and public speaking to competitive swimming and learning taekwondo. Lately, he’s enjoyed flexing his skills and has started to do voice work for film and public service announcements. He voiced the audible.com version of his essay in the Channel Kindness book with iconic musical artist Lady Gaga and voiced an English dub of Blood & Gold, a foreign feature film that was a global number one on Netflix. Each time, he was excited, prepared, and, ultimately, a hit. The well-rounded performer also just finished a full Shakespeare production of A Midsummer’s Night Dream with the renowned Phamaly Theater Company— an exciting project for such a big Shakespeare fan as Connor, who even visited London’s Globe Theater last year.

Similarly, when Josh was cast as physicist Kenneth Bainbridge in Christopher Nolan’s 2023 film, Oppenheimer, he was ecstatic to be working alongside some of the industry’s best. To him, hitting a home run meant blending in with the likes of Cillian Murphy, Florence Pugh, Robert Downy Jr., Emily Blunt, and Matt Damon – and he knew what would be the key to success.

 

“It was an opportunity to get so prepared,” he says, “and do so much research.”

It’s a tactic Josh embraced over his years in show business, though not without a healthy amount of stumbles—learning experiences—along the way. Acting and comedy was his dream, but it wasn’t always comfortable or easy. Especially not at first.

ACCEPTING THE LEARNING CURVES

 

“It was terrifying,” Josh admits, “it still is. I think the only difference between now and then is that now I know if I bomb or if the joke doesn’t go over well, somehow, someway, I will survive. Because I’ve walked through that before, where I’ve completely face-planted and lived to fight another day.”

“I’ve come to realize what that fear is and how there are two types.” He continues, “When I’m prepared, it’s readiness and adrenaline— sort of a priming mechanism. And those were the times I didn’t fall on my face. That’s very different from the kind of fear and anxiety in those moments when I wasn’t prepared.”

Connor agrees that success seldom comes without plenty of learning curves and bumps in the road.

“It’s hard work developing the skills to be on stage or in front of the camera, and there is a lot of work that goes into finding and pursuing film, stage 

or speaking opportunities.” He counsels, “My advice is to be prepared and excited, not nervous. Keep a positive attitude!”

Josh also stresses the importance of maintaining a healthy love of the craft itself.

“The results— like booking a role— are so out of our control.” He explains, “But if you love the process of acting, the preparation, the execution, getting to tell a story— if it really turns you on and makes you excited, then I think you’re in great shape.”   

Connor knows exactly what Josh means— it’s his passion for storytelling that led him to join the Denver 7 News team as a contributing reporter alongside fellow self-advocate Hannah Atkinson. Their hard work and magic touch earned them each an Emmy, making them the first-ever people with Intellectual and Developmental Disabilities to earn the award. The Emmy trophy that resides on Connor’s mantle reminds him of the reports he and Hannah delivered, and that there are many more stories to tell.

 

 

ALL FOR HONESTY & VISIBILITY

Self-advocates who have been formally recognized for their work hold the door open for fellow performers with disabilities. Thanks to talents like Connor, Zack Gottsagen, Jamie Brewer, and Madison Tevlin, just to name a few, viewers are finally getting to experience the creative capabilities of people with Down syndrome. Josh, for one, deeply appreciates the diversity, depth of knowledge and insights actors with different abilities bring to projects.  

“I love watching honesty,” he says, “like when performers with disabilities bring their experience, which is so unique to them. When that comes out in a performance, it really draws you in. The more of that we see, the better.”

PAYING IT FORWARD

Often, we can trace the inception of our favorite artists, activists, and role models back to the support they received for their dreams early on. The multi-talented Connor Long is no exception.

“I’ve had so many teachers, therapists and advocates support my interests and encourage me to give my time and energy to important causes.”

And the number of organizations and causes that Connor supports is impressive. He’s spoken at the US Embassy in (pre-war) Moscow, New York University, the Arc Catalyst Awards, and many times throughout Colorado. Dedicated to making a difference for his community, he draws from his lived experiences and pays it forward. For example, Connor, like many people with Down syndrome, considers himself a late bloomer when it comes to his cycling skills. At 16 years old, he participated in a specialized learn-to-ride camp with ICanBike. He honed the skill one year before GLOBAL launched its Dare to Ride cycling initiative, which raises funds and awareness for the Sie Center for Down Syndrome at Children’s Hospital Colorado. Ten years later, Connor is a Dare to Ride Courage Classic team captain, clocking hundreds of miles in training before completing 30+ mile rides in the name of Down syndrome research and medical care. He received the GLOBAL Community Service Award for this important initiative.

“My dad/riding partner and I have helped raise more than $500,000 for various charities and I always look forward to playing a role as a volunteer.”

ADVOCACY WITH ATTITUDE

The Be Beautiful Be Yourself Fashion Show is perhaps a perfect avenue for anyone with a knack for showmanship, like Connor and Josh, to engage in high-impact advocacy for Down syndrome research and medical care. When Josh took the Be Beautiful Be Yourself stage for the first time alongside models Timmy Frazier and Sinai Alexander, no one could suggest he was remotely unexcited or unprepared! The three men lit up the stage in what became one of the most memorable runway walks the event had ever seen. Josh brought infectious energy that funneled the spotlight onto Tim and Sinai, serving as the perfect hype-man by engaging the crowd and acting as the models’ personal paparazzi. No surprise they received a standing ovation.

“When you’re working with teenagers, you never know how comfortable they’re going to be in front of a crowd,” Josh says, “to see how hard they worked, how down they were to just ham it up,

 and the way I was able to capture all these great videos as we were doing it— it was such a fun and memorable experience…I think we gave Paris Fashion Week a run for their money!”

A FUTURE AS BRIGHT AS THEIR SMILES

What’s up next? Josh is fresh off his promotion of the massive hit film, Oppenheimer, and is spending time giving back by speaking at Southern Illinois University and other educational institutions. He’s also circulating funny photos and posts about how he nearly was cast as Edward Cullen in the Twilight franchise.  

Connor has been busy as well. His voice lessons have paid off and he’s singing the national anthem at various Colorado sports events including Denver Nuggets games. He’s also wondering (hint, hint) when Josh will help him get his first big Hollywood part!

Connor and Josh prove every day that when you approach challenges as opportunities— when you’re excited and prepared— there’s little you can’t accomplish. And the benefits of this life philosophy are always clearly visible in their beautiful and authentic smiles.  

 

GLOBAL Launches Pilot Fitness Program using Mann Method PT

August 3rd, 2023 by Global Down Syndrome Foundation

Mann Method PT is a 1-hour biweekly fitness program that focuses on increasing strength, balance, and cardiovascular health in participants using a variety of evidence-based exercises. The program follows the Mann Method PT and is taught by individuals trained by Sarah Mann PT, DPT, MBA, NSCA-CPT. Participants complete an intake assessment when beginning the program and are re-evaluated after 8 weeks to measure their overall progress. Participants also have the option to join in a weekly social dinner outing each Friday, and discuss healthy, post-workout food choices. Participation is free.

(pictured L-R) Congresswoman Rosa DeLauro, Awardee Eric Latcheran, Awardee Melissa Silverman, Congressman Tom Cole

In a heartwarming celebration of talent, perseverance, and advocacy, the Global Down Syndrome Foundation (GLOBAL) recognized the remarkable accomplishments of two extraordinary individuals with Down syndrome at the 2023 AcceptAbility Gala in Washington, DC. Eric Latcheran and Melissa Silverman were honored with the inaugural Rosa DeLauro and Tom Cole GLOBAL Advancement Awards to support their continuing education.

At the AcceptAbility Gala, GLOBAL recognized the transformative leadership of Representatives Rosa DeLauro and Tom Cole by unveiling post-secondary awards in their names. This gesture highlights their unwavering dedication to advancing the rights and opportunities for individuals with Down syndrome. The Rosa DeLauro and Tom Cole GLOBAL Advancement Awards will continue to inspire and support future generations in their pursuit of furthering their education and personal growth.

Eric Latcheran: Inaugural Rosa DeLauro GLOBAL Advancement Award Recipient

Eric, a shining example of resilience and determination, was bestowed with the inaugural Rosa DeLauro GLOBAL Advancement Award. This accolade serves as a testament to his exceptional achievements and serves to motivate others in their pursuit of personal growth. Eric’s tenacity knows no bounds, and he has consistently defied expectations.

With his award, Eric has chosen to pursue therapeutic horseback riding, a venture that aligns with his passion for animals and holistic well-being. Equine therapy has been known to improve physical strength, balance, and emotional well-being in individuals with Down syndrome, making it an ideal choice for Eric to further enhance his personal development.

Melissa Silverman: Inaugural Tom Cole GLOBAL Advancement Award Recipient

Melissa, a beacon of inspiration and fortitude, has been honored as the recipient of the inaugural Tom Cole GLOBAL Advancement Award. Her unwavering commitment to personal growth and the betterment of her community has earned her this prestigious recognition.

Melissa will utilize her award to maintain her 90-hour childcare certification. With a profound love for nurturing and supporting children, she understands the significance of quality care and aims to provide the best environment for their growth and development. Melissa’s dedication to her certification exemplifies her commitment to lifelong learning and her unyielding pursuit of excellence.

Eric and Melissa, two remarkable individuals with Down syndrome, have been rightfully honored by GLOBAL with the inaugural Rosa DeLauro and Tom Cole Advancement Awards for their exceptional achievements. These awards serve as a reminder of the limitless potential that lies within every person, regardless of their abilities. Eric’s choice of therapeutic horseback riding and Melissa’s commitment to maintaining her childcare certification reflect their dedication to personal growth and making a positive impact on their communities. Let us celebrate their accomplishments and be inspired by their unwavering determination to overcome barriers and continue to thrive.

See more highlights of the 2023 AcceptAbility Gala here!

Research at the University of Colorado Anschutz Medical Campus discovers a molecular mechanism contributing to the development of heart malformations in infants with Down syndrome.

From Down Syndrome World Issue 2, 2023

Newborns with Down syndrome, a genetic condition resulting from an additional copy of chromosome 21 (trisomy 21), face a significantly increased likelihood of being born with congenital heart defects. Roughly half of all babies with Down syndrome are estimated to have some form of heart malformation, making Down syndrome the leading cause of congenital heart abnormalities. Despite numerous research endeavors spanning many years, the specific mechanisms through which trisomy 21 disrupts the normal development of the heart in the embryonic stage have remained elusive.

In a recent breakthrough, researchers at the University of Colorado Anschutz Medical Campus have uncovered a molecular mechanism that plays a role in the impaired development of the heart in individuals with Down syndrome. Led by Dr. Kunhua Song, a Linda Crnic Institute for Down Syndrome collaborator and an associate professor of medicine, the team conducted a series of experiments using both human cells with and without trisomy 21 and a mouse model of Down syndrome. These investigations shed light on the specific molecular factors contributing to the defective formation of the heart in Down syndrome.

By utilizing pluripotent stem cells sourced from participants in the Human Trisome ProjectTM, a comprehensive study spearheaded by the Linda Crnic Institute for Down syndrome at the University of Colorado, the research team took on the task of simulating the early stages of heart development, known as cardiogenesis, within a laboratory setting. During their investigation, they made a noteworthy observation: trisomy 21 hindered the process of cardiogenesis, and this malfunction appeared to be linked to an overactive cellular response to viral infections, specifically the interferon response. The team then proceeded to employ genetic and pharmacological techniques, successfully demonstrating that by blocking the interferon response, they could enhance cardiogenesis in the laboratory setting. This finding suggests a potential therapeutic avenue for improving heart development in individuals with Down syndrome.

“We were surprised to see strong activity of the interferon response during differentiation of pluripotent stem cells into heart muscle cells with trisomy 21. We now appreciate that an abnormally high interferon response could be detrimental to early heart development.”

Dr. Kunhua Song, Crnic Institute Collaborator and Associate Professor

Dr. Song expressed his surprise at the robust activation of the interferon response during the differentiation of pluripotent stem cells into heart muscle cells with trisomy 21. The research team had not expected such heightened activity, and they now understand that an excessively elevated interferon response may have negative implications for the early stages of heart development. This discovery highlights the potential harmful effects of an abnormal interferon response on the proper formation of the heart in individuals with Down syndrome.

Continuing their inquiry, the researchers delved further into understanding how the hyperactive interferon response hindered cardiogenesis. Through their investigation, they made an additional breakthrough by uncovering that the interferon response actually impedes several crucial molecular processes necessary for proper heart development, including the Wnt signaling pathway. This finding sheds light on the specific mechanisms through which interferon hyperactivity disrupts the intricate series of molecular events essential for the formation of a healthy heart.

Per Dr. Congwu Li, primary author of the study, “Excessive interferon activity results in insufficient Wnt signaling, thereby compromising cardiac muscle cell performance. Unveiling this sequence of occurrences sheds light on possible approaches to mitigate abnormal heart development in Down syndrome by reducing interferon signaling and/or enhancing Wnt signaling.”

To assess the efficacy of this therapeutic approach in a Down syndrome mouse model, the researchers administered a JAK inhibitor—a medication that diminishes the interferon reaction—to pregnant female mice. They then observed the impact on heart development in the embryos possessing a genetic modification analogous to trisomy 21. Remarkably, treating the pregnant mice with the JAK inhibitor exhibited a significant enhancement in cardiogenesis among the mice.

“These findings hold great significance as they propose a prospective pharmacological approach for prenatal intervention in mitigating one of the severe consequences of trisomy 21. Infants born with Down syndrome and congenital heart anomalies encounter numerous hurdles, ranging from early postnatal cardiac surgeries to enduring physiological repercussions throughout their lives. Nevertheless, extensive further investigations are imperative to ascertain the safety and effectiveness of utilizing JAK inhibitors during pregnancy,” elucidates Dr. Joaquin Espinosa, co-author of the paper and executive director of the Linda Crnic Institute for Down syndrome.

Dr. Espinosa and his research team are presently at the forefront of clinical trials investigating the advantages of JAK inhibitors in older individuals, including children and adults, affected by Down syndrome.

These findings contribute to the expanding body of evidence highlighting the detrimental consequences of excessive interferon activity in Down syndrome, even in the initial phases of embryonic development. The outcomes further endorse the notion that several distinctive features of Down syndrome stem from persistent immune system dysregulation throughout life, and that reinstating immune equilibrium could yield therapeutic advantages.

 

“This collection of research serves as evidence of the remarkable scientific progress that can be achieved with adequate resource allocation and the enthusiastic participation of individuals with Down syndrome in research,”  

— Dr. Joaquin Espinosa, Executive Director of the Linda Crnic Institute for Down Syndrome

 

“We are currently witnessing a genuine renaissance in the realm of Down syndrome research, propelled by substantial support from the National Institutes of Health INCLUDE Project, which represents the culmination of extensive advocacy by the Global Down Syndrome Foundation. Thanks to these concerted efforts, we hold a confident belief that individuals with Down syndrome will enjoy extended and healthier lifespans.”