Archive for November, 2018

Global Down Syndrome Foundation Presents Leadership Awards to The Salah Foundation families and to the Vollbracht & Winfield families at the Grand Opening of its Headquarters

Press Contacts:
Rejena Carmichaelrcarmichael@globaldownsyndrome.org | C: (240) 603-5494
Anca Callacall@globaldownsyndrome.org | C: (720) 320-3832

DENVER, CO November 28, 2018 – Over 100 guests packed the lobby at the new headquarters for the Global Down Syndrome Foundation (Global) in the vibrant Cherry Creek North area. Governor John Hickenlooper gave an opening address before the awards ceremony and before the tour of the new building, which includes an Education Center and a future coffee shop.

At the event, Global presented its 21X21 Campaign Leadership Award to Noreen Salah Burpee, Executive Director of The Salah Foundation. “Noreen and her amazing family have been our champions for many years giving us guidance and helping us to grow,” says Michelle Sie Whitten, President & CEO of Global. “Last year they provided a historic, extremely generous $1 million grant to Global that will underwrite The Salah Foundation Learning Zone in our Education Center where we will provide transformative educational programs to people with Down syndrome of all ages.” Fred Churbuck and Megan Fearnow, two of Burpee’s children who also serve on The Salah Foundation board, were in attendance to support Global and receive the award.

“The education center was a team effort and The Salah Foundation is very proud to be a part of this team that will help so many people with Down syndrome,” says Noreen Salah Burpee. “This building is a tribute to the generosity and the goals of Anna and John J Sie. It is through their vision and dedication and the tireless efforts of their daughter Michelle Sie Whitten that this is all possible.”

Global also presented its Community Leadership Award to the Vollbracht and Winfield families. Leslie and Bill Vollbracht are the founders of Land Title Guarantee Company and have been pillars of the Colorado business and philanthropic community for years. Their daughter and son-in-law, Alison and Kirby Winfield, are carrying on that family tradition in Washington state with their two children, Katherine (Kate) and Kirby Jr. Kate is Global’s Ambassador and happens to have Down syndrome. “The Vollbrachts and Winfields have always been there for us from the beginning and understood the importance of the research and medical care on our children’s health outcomes,” said Whitten. Alison and Kirby Winfield and the Vollbracht’s daughter Dana Vollbracht were on hand to help accept their families’ award.

“We have seen firsthand the incredible impact Global has on the lives of people with Down syndrome,” says Allison Winfield. “In a world where public resources and awareness are scarce, Kate and her peers need organizations like Global to advocate for their health and interests and push the envelope on evolving research and therapy. Global constantly raises the bar for how all of us include and support people with Down syndrome.”

Global’s new headquarters is located at 3239 E. 2nd Avenue on the corner of 2nd and Adams in the Cherry Creek district, which boasts hundreds of restaurants, spas, shops, and banks. The building is an important legacy project for cable TV pioneers and community leaders, Anna and John J. Sie. Their granddaughter, Sophia, was born with Down syndrome. The Sie’s daughter and Sophia’s mom, Michelle Sie Whitten, runs the Global Down Syndrome Foundation. Michelle, Tom, Sophia, and Patrick Whitten were all in attendance for the Grand Opening.

The building is 53,879 square feet in total and was built by GH Phipps Construction Companies, designed by Saiber Saiber Architecture, kitted out by OfficeScapes and branding by ArtHouse Design. The second and third floors of the building are occupied by Global staff while the fourth floor is dedicated to the Anna and John J. Sie Foundation and AJS Ventures. The first floor, where the Grand Opening event took place includes a lobby, an Education Center measuring 2,480 square feet and a future coffee shop that occupies 1,624 square feet. The Education Center will open its doors by the end of 2019 and the coffee shop is expected to open sometime in 2020.

“This building will not only be a headquarters but a destination for inclusion, inspiration and achievement,” says John J. Sie. “We want to have thousands of people who are differently-abled working together with the broad-based community and finding ways to accomplish great things together.” An important focus of The Salah Foundation Learning Zone and the Education Center will be vocational training toward job placement.

The impressive list of event attendees included award-winning actor and Global board member, John C. McGinley, Born this Way TV phenom, Megan Bomgaars. Philanthropic leaders included Peter Kudla, Mike Fries, Don Elliman, Ellen Bruss & Mark Falcone, Laura Barton & Willy Matthews, Charlie Gallagher, Sunny Brownstein, Susan Karsh, Casey & Brett Perry, Greg Karsh, Nancy Sevo, Don & Susan Sturm, Edie Marks, Chris & Lu Law, Joy Dinsdale, Jay Mills & Kiana Akina, Michele & Michael Ritter, Mac & Rebecca Macsovits, Bob & Liane Clasen, Dick & Marcia Robinson, Arlene & Barry Hirschfeld , Kalleen Malone, Allison & Brian Levin, Brian & Shelley Hart, Brook Griese, Andy Irvine, and Katy Call. Other Community Leaders included Rebecca Chopp, Christoph Heinrich, John Reilly, Stephen & Dee Daniels, Jennifer Darling, and Miguel Lovato.

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About the Global Down Syndrome Foundation

The Global Down Syndrome Foundation is at the forefront of research, medical care, education and advocacy dedicated to significantly improving the lives of people with Down syndrome. Global supports the research of hundreds of scientists around the world through their advocates, partners and affiliates, including the Crnic Institute for Down Syndrome and the Anna and John J. Sie Center for Down Syndrome. To learn more, please visit www.globaldownsyndrome.org.

2018 Quincy Jones Award Honoree Colin Farrell

November 14th, 2018 by Global Down Syndrome Foundation

2018 Quincy Jones Award Honoree Zack Gottsagen

November 14th, 2018 by Global Down Syndrome Foundation

Pioneering Care for People with Down Syndrome

November 8th, 2018 by Global Down Syndrome Foundation

Crnic

From Down Syndrome World Issue 3 2018

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

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

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

AN EARLY SUPPORTER OF TRANSLATIONAL RESEARCH

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


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

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

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

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

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

FORGING NEW PATHS FOR ADULT MEDICAL CARE

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

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

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

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

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

To learn more about the Medical Care Guidelines for Adults with Down Syndrome, please visit globaldownsyndrome.org/medical-care-guidelines.   


ADVICE FOR FAMILIES AND SELF-ADVOCATES

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

Don’t get caught up in comparisons.

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

Exercise body and mind.

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

Connect.

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


Like this article? Join Global Down Syndrome Foundation’s Membership program today to receive 4 issues of the quarterly award-winning publication, plus access to 4 seasonal educational Webinar Series, and eligibility to apply for Global’s Employment and Educational Grants.
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The Importance of Immune System Dysregulation in People with Down Syndrome

November 8th, 2018 by Global Down Syndrome Foundation

Crnic

From Down Syndrome World Issue 3 2018

How does an extra copy of chromosome 21 drive the developmental and clinical features of Down syndrome? This question has been the subject of many investigations since 1958, when Jérôme Lejeune reported the Presence of trisomy 21 in cells of people with Down syndrome. The answer has remained elusive.

NOW, RESEARCH FROM the Linda Crnic Institute for Down Syndrome points to dysregulation of the immune system as a mechanism by which the extra chromosome would cause this multiorgan, multi-system condition. The implications of these results are profound, because they not only provide a new conceptual framework for future research, but also illuminate avenues for the development of novel diagnostic and therapeutic opportunities to improve health outcomes in Down syndrome. Of the more than 20,000 genes encoded in the human genome, chromosome 21 carries fewer than 300, the lowest number of genes on any human chromosome. While consensus among scientists is that Down syndrome is a “polygenic condition,” a condition caused by increased activity of more than one gene, it is also agreed that not all genes on chromosome 21 would contribute equally to the condition. If one were to select a random group of 300 genes, it is recognized that only a few genes would be master regulators of cellular and organismal function. What then are the master regulator genes on chromosome 21 with the greatest impact on human biology? To address this question, scientists at the Crnic Institute employed an approach known as functional genomics, which involves measurements of the activity of thousands of genes across the entire genome, to identify the gene networks most impacted by trisomy 21.

OVERACTIVE IMMUNE SYSTEMS?

The first set of results from the analysis of cells of people with Down syndrome (Sullivan et al., 2016) revealed that trisomy 21 causes constitutive activation of the gene network known as the Interferon response, a key branch of the immune system responsible for fighting off viral infections. In cells from typical people, the Interferon response was dormant, but cells from people with Down syndrome seemed to be fighting off a viral infection that just wasn’t there. These results immediately drove attention to four genes on chromosome 21 known as the Interferon receptors, which are required for cells and tissues to respond to a viral infection and whose triplication could potentially trigger constant activation of this arm of the immune system.

The second set of results from the analysis of blood samples (Sullivan et al., 2017) revealed signs of chronic autoinflammation in people with Down syndrome. Measurements of approximately 4,000 different proteins in the blood identified about 300 that are differentially abundant between people with and without Down syndrome, with about half of those 300 proteins being involved in the immune system. Importantly, this study revealed signs of both constant activation and exhaustion of different aspects of the immune system, with obvious ties to the Interferon response. It is well established that the Interferon response enhances anti-viral defenses, but too much Interferon activity eventually weakens antibacterial defenses. Indeed, the results of the blood analysis were consistent with a type of immune dysregulation caused by lifelong hyperactivation of the Interferon response.

Noteworthy, both studies revealed, among people with Down syndrome, strong inter-individual variation in the degree of activation of the Interferon response and autoinflammation, which could potentially be linked to the obvious clinical diversity in this population.


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

GREATER INSIGHTS AND POTENTIAL TREATMENTS

These results have triggered a flurry of activity at the Crnic Institute to answer key follow-up questions: Which of the symptoms of Down syndrome could be explained by the observed immune dysregulation? To what degree is the immune dysregulation caused by triplication of the four Interferon receptors versus other genes on chromosome 21? What would be the diagnostic value of measuring immune dysregulation to predict the risk of the same person developing certain co-occurring diseases or conditions? What would be the therapeutic value of medications that inhibit the Interferon response and accompanying inflammatory process?

Several key facts are generating much enthusiasm in the pursuit of these answers. First, it is well established that a hyperactive Interferon response has negative effects on human development, as illustrated by type I Interferonopathies, a newly recognized class of genetic conditions caused by gene mutations that lead to activation of the Interferon response and share many symptoms with Down syndrome. Second, the pharmaceutical industry has developed many medications that inhibit the Interferon response, some of which are approved for the treatment of autoinflammatory conditions, such as rheumatoid arthritis, and are currently being tested for the treatment of autoimmune conditions more prevalent in Down syndrome, such as alopecia areata and vitiligo. Third, pioneer studies in mouse models of Down syndrome completed by Lenny Maroun, Ph.D., currently at the Crnic Institute, demonstrated that reducing the Interferon response improves the development of these mice (Maroun et al., 2000).

Altogether, this body of research justifies a strong investment in the study of the immune system in Down syndrome, with the obvious potential to develop diagnostic and therapeutic strategies to improve the well-being of those living with trisomy 21.

To learn more about research at the Crnic Institute, visit globaldownsyndrome.org/our-story/linda-crnic-institute.


References:

Maroun, L.E., Heffernan, T.N., and Hallam, D.M. Partial IFN-alpha/ beta and IFN-gamma receptor knockout trisomy 16 mouse fetuses show improved growth and cultured neuron viability. Journal of Interferon & Cytokine Research: the Official Journal of the International Society for Interferon and Cytokine Research. 2000; 20, 197–203.

Sullivan, K.D., Evans, D., Pandey, A., Hraha, T.H., Smith, K.P., Markham, N., Rachubinski, A.L., Wolter-Warmerdam, K., Hickey, F., Espinosa, J.M., et al. Trisomy 21 causes changes in the circulating proteome indicative of chronic autoinflammation. Scientific Reports. 2017; 7, 14,818.

Sullivan, K.D., Lewis, H.C., Hill, A.A., Pandey, A., Jackson, L.P., Cabral, J.M., Smith, K.P., Liggett, L.A., Gomez, E.B., Galbraith, M.D., et al. Trisomy 21 consistently activates the interferon response. 2016; eLife. 5.


Like this article? Join Global Down Syndrome Foundation’s Membership program today to receive 4 issues of the quarterly award-winning publication, plus access to 4 seasonal educational Webinar Series, and eligibility to apply for Global’s Employment and Educational Grants.
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Global Webinar Series – Fall 2018 Recap

November 2nd, 2018 by Global Down Syndrome Foundation

FALL 2018

Supporting Aging Adults with
Down syndrome and Alzheimer’s Disease


What You Need to Know


Overview & Speakers:

This webinar reviews key research and behavioral strategies related to Alzheimer’s disease and Down syndrome. Huntington Potter, Ph.D, presents the most recent research discoveries about the relationship between Alzheimer’s disease and Down syndrome and Bryn Gelaro, LSW, discusses important behavioral strategies to support aging adults with Down syndrome. Find out what families and professionals need to know about Alzheimer’s disease to provide great care for aging adults with Down syndrome.

Key takeaways from this presentation are:

  • Recent Research Discoveries related to Alzheimer’s disease and
    Down syndrome
  • Common Behavior and Mental Health Concerns of Family Members of Aging Adults with Down syndrome
  • Behavior-Based Intervention Strategies Utilizing Behavioral Strengths of Adults with Down syndrome

Huntington Potter

Huntington Potter, Ph.D. is Professor of Neurology and Director of Alzheimer’s Disease Research in the Department of Neurology and the Linda Crnic Institute for Down Syndrome at the University of Colorado on the Anschutz Medical Campus. He discovered and is devoted to studying the mechanistic relationship between Alzheimer’s disease and Down syndrome. Prior to joining CU Denver, Dr. Potter studied, researched, and taught for at Harvard University for 30 years. He has authored over 100 scientific articles and books, holds 15 U.S. and foreign patents, and has received numerous awards for his work.

Bryn Gelaro

Bryn Gelaro, LSW, is a social worker with a background in behavioral health in adults with Down syndrome. As the Director of Adult Initiatives and Special projects at the Global Down Syndrome Foundation (Global), her work includes furthering Global’s adult care initiatives, serving as a project manager and co-author on the Adult Medical Health Care Guidelines, and supporting Global’s efforts to open a World Class Medical Clinic for adults with Down syndrome. She also provides behavioral health services under the supervision of Dr. Dennis McGuire, LCSW, at the pilot Adult Down Syndrome Clinic at Denver Health.


Overview:


Powerpoint Presentation: Click to Download


Questions & Answers

Darcee in Belvidere, IL:

1. What behaviors and signs should we look for in a person who has limited speech/expressive language?

Some changes include changes in functioning/skill level, changes in typical “routine” behaviors, increase in confusion (not verbally expressing this but indicating with their behavior that they are not sure what to do in a given space), becoming more withdrawn, slowness, inability to complete tasks they previously completed—again all of these changes would be different from their typical or usual behavior and should be reviewed by a doctor.

 

Cassandra in Estes Park, CO:

1. Is there a 100% chance anyone with DS will get Alzheimer’s?

No. Not all people with Down syndrome will exhibit signs of Dementia.

2. What are the best things to prevent Alzheimer’s?

A few things discussed in the webinar that seem to support healthy aging include diet, exercise, sleep and social engagement.

3. Are Memory Care facilities equipped to care for adults with DS or are there very few specialized facilities?

It is difficult to know if an environment will be a good fit for the individual or provide the appropriate care unless you go for a visit. You want to make sure they can adapt to changing levels of care your adult may require. Consistent caretakers who know your loved one and understand the family’s wants and wishes are very important in this process.

 

Phyllis in New York City, NY:

1. How can we best support and care for aging relatives with Down syndrome?

Please refer to the 3 takeaways!

2. Are delusions and hallucinations common manifestations of aging with Down syndrome?

I would first consider if the person was engaging in self-talk, which is very common for children and adults with Down syndrome. It is different than a hallucination or delusion, but fantasy play or imaginary play is still sometimes seen. Self-Talk can increase during periods of stress, including illness or environment changes.

3. Does a boring routine contribute to cognitive decline with aging?

Maximizing skill, community participation and social engagement are crucial for supporting healthy aging. From a behavioral health perspective, lack of an enjoyable routine that provides an adult with a sense of meaning and purpose can contribute to depression and decline in many areas functioning. This is true for people with and without Down syndrome. People with Down syndrome can learn new skills throughout their life and opportunities to continue to learn and grow should be encouraged!

 

Wendy in Cape Coral, FL:

1. When is it important to make an appointment with a neurologist? For baseline? Only when I need assistance as disease progresses?

Behavior or function changes should be reviewed by a doctor regardless of a diagnosis because there could be so many potential underlying causes of the change.

2. What is purpose of diagnosis? Just to get medication?

Many families we work with want a diagnosis to best manage their loved one’s care. They want to know what to expect, how best to support them and if/when they need to make end of life preparations.

3. What are the best measurement tools to use to track regression and decrease of previous known skills? I don’t want to identify things that may be typical aging and have nothing to do with Alzheimer’s.

There are a few different tools out there, but only some of them are specifically for adults with IDD. Many times all we have to go on are patient and family report, which is huge because they know the individual best. But it is difficult to determine what is aging and what could be Alzheimer’s, and sometimes it can be both.

 

Buddy in Heber Springs, AR:

1. There appears to be significant work being done on Down syndrome and Alzheimer’s on the East Coast, West Coast and Chicago in addition to Denver. How open and frequent are the collaborations among these centers?

Global is currently working to update and publish the medical care guidelines for adults with Down syndrome. In order to do so, we’ve recruited Down syndrome medical experts form across the US to work together to vet the research and write the guidelines. They represent the medical leadership of some of the foremost Down syndrome clinics across the US and this is one way we are working with our community of experts to make sure we are getting crucial knowledge to families and doctors!

2. What have been the results of the Leukine and Aducanumab?

Aducanumab is currently in the final phase III trial but the results of the phaseII trial are encouraging. Over a year of treatment, aducanumab reduces amyloid deposits in the brain very effectively and slows the pace of cognitive decline. Leukine has only been tried in typical people with late onset mild Alzheimer’s disease and for a short (three week) period. The study is ongoing but the very preliminary interim results indicate that it can improve cognition measured by the Mini Mental State Exam, but not in other measures and there is an indication of amyloid reduction. The trial needs to be completed and the longer (24 weeks of treatment) started.

3. What are the current thoughts on Inflammatory Protein Inhibitors: Actemra, Humira, Avastin? Any trials?

No information that I recall. Non-steroidal anti-inflammatory drugs failed in AD.

 

Jackie in Canada:

1. Is there a good assessment for people with DS who may be showing signs of dementia?

Several teams of neuropsychologists have been working on developing AD assessment tools for people with DS but the work is still in progress.

2. What is recommended regarding medications that may help?

Some people with DS have been prescribed the current FDA-approved drugs for AD (ie Aricept and or Namenda) but I have not seen definitive data that people with DS benefit.

3. Is there any research on adult regression in younger adults with DS?

Not that we know of.

 

Kathy in Weirton, WV:

1. With an individual who has poor articulation how can one tell if that individual is suffering from Alzheimer’s, depression or something else?

See previous question above.

 

Judie in Walnut Creek, CA:

1. Please clarify the statistics, “By the age of 40/50/etc.,?% of people who have DS will (have) (exhibit signs of) AD?

Latest data indicate that about 80% of people with DS will experience dementia by age 65.

 

Beverly in Normandy Park, WA:

1. My sister, with Down syndrome is 66 years old and after a terrible bout with pneumonia last fall has really changed over the last year. She is not able to control her bladder or bowels. She seems not to hear as she did and her communication is very limited now. The community service she was in for the last 30 years discharged her and for the last few months has been in a nursing home. My husband and I want very much for her to improve, but in the meantime what can we do to help her? I feel she is very angry with her situation but we do not know how to help her.

We are very sorry to hear of your sister’s challenges. Unfortunately, supportive care is the only option possible.

 

B in Denver, CO:

1. If I suspect Alzheimer’s or dementia is starting, is there any reason to see a doctor? I am concerned that it may become a “pre-existing condition” if I express my concern?

Because behavior or functional changes can be in indicator of a number or mental, physical or emotional shifts or stressors, at the clinic we would always prefer to make sure a doctor is consulted.

 

Martha in Vallejo, CA:

1. I have noted that some individuals will begin to whisper. Any concerns in the change?

Changes can indicate an underlying stressor or illness. Doesn’t mean it’s Alzheimer’s but it could be something else. Changes in adults are best evaluated by a doctor.

2. Have there been some patterns that are very noticeable? I note that when things happen very slowly it’s hard to know what to be concerned about?

See previous answers.

3. What are common signs that you see?

See previous answers.

 

Molly in Cincinnati, OH:

1. We were told by the doctors at The Ohio State Nisonger Center (Adult Down Syndrome Clinic) that the link between Alzheimer’s and Down syndrome is not as strong as was once thought, and that there is new research suggesting a misdiagnosis of Alzheimer’s when in actuality it was just the normal Down syndrome aging issues….and that a more nuanced understanding of the symptoms of aging and Sown syndrome is showing that in fact Alzheimer’s is not at play. Can you touch on this?

In all people with DS, the AD changes in the brain and blood are clear. The question is always whether the behavioral changes are only age related or also AD-related. It is likely that by age 60, it is both.

2. We feel like we are left to our own devices when it comes to understanding and supporting aging with Down syndrome. There seem to be many resources for families with children and adolescents, but very few for aging adults–especially outside major metro areas. Are there efforts under way to remedy this? Virtual consultations, etc.? I’m also interested in how much development is happening in the area of voice assistants/AI for assisted living–it’s an area that could provide a lot of help and allow longer aging in place, but ethical issues abound?

I apologize, but I am unaware of such studies.

 

Victoria in Westminster, CO:

1. If you feel the person with DS is depressed how should you find a therapist for them and know they are educated with people with DS to feel the therapy is helpful?

Local Down syndrome organizations or Down syndrome medical clinics may know of professionals who have been successful working with adults with Down syndrome.

2. If you cannot get a person with DS to use the c pap machine, is there something we can use without the machine to get the same results?

Consult your doctor. But also, consider why the person might not be using the machine. Is it the sensation on their face? Is it too tight? Does it need to be adjusted? Many times, if a cpap is correctly adjusted but not tolerated for sensation reasons, we can work with adults to make it tolerable over time via positive reinforcement or desensitization training.

 

Mary in Eliot, ME:

1. How does anesthesia impact a person that might have AD?

A very common problem encountered by elderly people who have surgery and anesthesia is delirium, which is similar to but not quite the same as classical AD dementia. In AD mice, anesthesia definitely makes them worse.

 

Roberta in Los Angeles, CA:

1. What do you consider “older” in the person with DS?

For the purpose of this presentation, I was addressing adults 40 years of age or older.

 

Melissa in Shaker Heights, OH:

1. With sleep apnea being a problem with individuals with DS, is there a correlation between sleep apnea and Alzheimer’s?

Yes, sleep apnea increases the risk of AD in the typical population and likely in people with DS. During good sleep, the amyloid peptide and other unwanted material is cleared more rapidly from the brain.

 

Mary:

1. With sleep being so important to health, cognition, and prevention, do you have any pointers in dealing with an adult who lives independently and simply refuses to get enough sleep? Balancing their need and desire for control and evening activities (not wanting to go to bed early), with getting up early enough to accommodate their slower pace and transportation arrangements.

The idea has to have their participation. It has to be presented and discussed with them so that they are active participants in the process. There are ways they still get to control this aspect of their lives while learning more skills to make sure they are healthy. Develop a structure with them, set clear expectations, use alarms and reminders they get to control to help keep them on track. Have a night routine that minimizes distraction. And its times like this we can use positive reinforcement techniques as well that are age and developmentally appropriate.

2. How do you impart structure when they live independently? Is this where AI for assisted living can come into play?

See reply above.

 

Melanie in Orlando, FL:

1. My sister who is at a totally disabled stage of AD has first shown improvement with Keppra 2 years ago when seizures began. Recently when seizures were increasing Fycompa has shown great improvement in cognition and movement. Has research been done with these meds as answers to AD?

No work has been done.

2. If plaque was reduced could AD be reversed in those who are in later stages?

This is hotly debated. The only drugs capable of removing amyloid have slowed but not reverse cognitive decline. Very preliminary results with Leukine indicate that it may do both but the safety of long term use has not been established, especially in people with DS. Do not self-medicate.

3. What training are neurologists getting in Down syndrome with Alzheimer’s since they may need a different plan of care and medicine?

Behavioral Neurologists are trained for AD diagnosis and treatment and they will be the best to consider appropriate treatments for people with DS. Some have experience with DS; some do not.

 

Jadene in Clearwater, FL:

The National Task Group (NTG) on Intellectual Disabilities and Dementia Practices has a tool for watching/tracking the changes. It’s called the Early Detection Screen for Dementia and is on the website @ aadmd.org/ntg

 

Sandra in Carol Springs, FL:

1. The diagnosis has been confirmed that it is NOT Alzheimer’s. It looks like depression since the lack of initiative is gone, no laughs or cries, slowness but 3 professionals gave different diagnoses. I heard from a Behavior Analysist that it is social regression. The symptoms you ask to watch for are almost all the same as a person with DS with Alzheimer’s. Has social regression been considered?

It is our understanding that the Down syndrome medical community is doing work and learning more and more about regression. While there may be a few similar symptoms, (like change in skill and loss of interest) there are differences as well, which is why any of the behavior or functional changes we discussed should be reviewed and discussed with a medical and behavioral expert who can help pinpoint what’s going on.

 

Kathy in Northampton, MA:

1. We are so used to working on skill development. At what point do we stop working on skill acquisition, yet prevent excess disability?

Overall goal for most people as they age, especially with Dementia, is maintaining health, happiness and safety as long as absolutely possible. There is no way to know what works for everyone because aging is individual process. An attuned caregiver needs to pay close attention to their loved one to see if the activity (whatever it may be) is still beneficial, or has it become intolerable.

2. The Alzheimer’s Association and others note that the part of our brain that governs our emotions, the amygdala is intact until the very end of the disease continuum and that if we communicate on an emotional level we maintain a connection. Can you elaborate on this?

There are some indication of this but ultimately the communication has to be effective and thus use the cortex.

 

Rosie in Pine, CO:

1. I care for a gentleman who is in a pretty late stage of dementia. In general, what does the end stage look like and are caregivers usually able to care for these individuals at home?

The ability to care for a person at home depends on the level of skill, strength and occasionally credentialing of the caretaker, plus the needs of the person with Down syndrome. What is best for the health and well-being of both the person with Down syndrome and the caretaker needs to be considered. Some families will seek in-home supports, some provide care at home themselves, and some others will receive care in a care facility. These decisions can be best made by consulting medical professionals and the people who know the person with Down syndrome best.

 

Halee in Elk Grove, CA:

1. Is it harmful to prevent people with Down syndrome to practice self-talk? How can we inform other families about the importance of self-talk without offending them in regards to their parenting?

Self-Talk can be a very helpful and useful form of processing and reflection for a person with Down syndrome. It can also serve as a litmus test or a window into their day-to-day lives. It is a coping mechanism. It can take the form of re-enactment of real events, or fantasy/pretend play and experts tend to think all of that is okay as long as it isn’t interfering with their lives and the people around them know how to help them manage it. We prefer to teach people appropriate private spaces for self-talk rather than prevent self-talk. Preventing it if it isn’t interfering could cause them more stress and remove a coping skill! If self-talk changes (suddenly emerges, becomes louder or angry in tone, becomes more difficult to redirect) this could be an indicator of a stressor in their environment or their physical health. This is when you would want to pay attention to make sure they are not in pain/discomfort or going through a difficult time.

2. Dr. Potter mentioned the inhibition of alpha and beta secretase enzymes as a possible mechanism to prevent Alzheimer’s. Do these enzymes work to amplify the APP gene? Do people with Down syndrome express more of these enzymes than regular people?

People with DS do not make any more of secretase enzymes, but they have more APP so these enzymes cleave more of the APP into the Abeta peptide. So far inhibiotin of these enzymes slows, even reverses AD in the mice, but not in humans with AD or else not without unacceptable side effects.

 


 

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