Category Archives: Research

New Study on Bone Mass in Adults With Down Syndrome

Intellectual and Developmental Disabilities

Volume 55, Issue 5
(October 2017)

Zestful Data on Community Employment

Zestful Data on Community Employment

We hope you’ve enjoyed our series on employment for people who have Down syndrome! For our final post, we bring you some encouraging stories and zestful employment data that we hope will encourage those looking to support a loved one who’s looking for a job.

Continue reading Zestful Data on Community Employment

New Study Looks Into Racial Disparities in the Down Syndrome Community

A new study funded by the Emily Ann Hayes Research Fund within Cincinnati Children’s Hospital Medical Center looks into racial disparities within the Down syndrome community.

Six researchers conducted a detailed study looking at pre- and post- natal complications and existing co-occurring medical conditions hoping to find answers about why Black children with Down syndrome have a higher mortality rate than White children.  Continue reading New Study Looks Into Racial Disparities in the Down Syndrome Community

People With Down syndrome Living Much Longer – Unless They’re Not White

The Road We've Shared celebrates all adult lives with Down syndrome

Change.org Petition

Today we posted a petition to gather support for advocacy around an important issue –  here’s why.

The Research

Back in March, and again in July, I wrote about a discrepancy that I found unacceptable and frightening.

Median age at death of persons with Down syndrome by race

Yang, Quanhe, Sonja A. Rasmussen, and Jm Friedman. “Mortality Associated with Down’s Syndrome in the USA from 1983 to 1997: A Population-based Study.” The Lancet 359.9311 (2002): 1019-025.

Continue reading People With Down syndrome Living Much Longer – Unless They’re Not White

The Time For Action – Race & Down syndrome 

“Action expresses priorities.”

What we know :
Life expectancy by race

Center for Disease Control: June 08, 2001 / 50(22);463-5 http://www.cdc.gov/mmwr/preview/mmwrhtml/mm5022a3.htm
ABC News reported this in 2001:  “The National Down Syndrome Society said the study indicates a “serious disparity that really needs to be addressed.””

A position statement from NDSS says: “It is clear that more needs to be done that is specifically targeted to those who are black and of other races.”

In 2012, another study found:

  • Non-Hispanic black children with Down syndrome were twice as likely to die during childhood and adolescence compared to Non-Hispanic white children with Down syndrome.


In October, 2014, super model and spokesperson for Global Down Syndrome Foundation is quoted in She Knows

  • “There’s a remarkable disparity between children of color who get Down syndrome — life expectancy is age 23 — and non-black children with Down syndrome — life expectancy is 63 years old,”

Continue reading The Time For Action – Race & Down syndrome 

NIH Releases Plan for Research On Down Syndrome

Down syndrome Directions

Down Syndrome Directions: The National Institutes of Health Research Plan on Down Syndrome” was recently published.  The new 71-page plan updates the 2007 version and spells out the research priorities for the immediate and long-term future.


I spent some time reading over the plan and offer this summarized version of the information – concentrating on what affects parents and caregivers of adults who have Ds.

How It’s Divided

The report consists of several main sections:

  • Research goals (short and long term)
  • Bibliography of studies published since 2007
  • Input provided by the Down syndrome community
  • Meetings, websites, and congressional report language since 2007

Research goals are broken down into five major categories:

  • Pathophysiology of Down Syndrome and Disease Progression 
  • Down Syndrome-Related Conditions: Screening, Diagnosis, and Functional Measures 
  • Treatment and Management 
  • Down Syndrome and Aging 
  • Research Infrastructure

Some Concerns 

There were two things that concerned me.  First was the overwhelming emphasis on cognition and Alzheimer’s disease.  This focus was apparent from all angles, including the suggestions received from the Ds community.

Research on improving cognition in people with Down syndrome should be the major focus of the Research Plan – Agreed in part; it is a major focus, but given the other health issues in the Down syndrome population, it is not the sole focus.

The language used in the Congressional Directives highlights how research involving our loved ones is important for reasons other than the health of people with Down syndrome.

FISCAL YEAR 2014 (SENATE REPORT 113-071)

Down Syndrome – The Committee applauds NIH for the establishment of the Down Syndrome Patient Registry. The Committee urges continued investment and development of the registry to fully realize its potential as a tool to stimulate meaningful clinical trials and research. The Committee recognizes that investing in Down syndrome-focused research has the potential to benefit many other diseases and conditions such as Alzheimer’s disease.  Therefore, the Committee urges NIH to seek public-private partnerships aimed at developing preventive therapies for the dementia associated with both Down syndrome and Alzheimer’s disease. The Committee remains troubled by the stagnant number of investigator-driven research awards given in the area of Down syndrome and supports efforts to increase the Federal investment.  The Committee requests a status update in the fiscal year 2015 congressional budget justification. The Committee urges the NIH to continue to utilize the Down Syndrome Consortium as it updates and implements the NIH Down Syndrome Research Plan.

Emphasis mine
Another research goal struck me as troublesome:

Determine whether individuals with cognitive impairment, including those with Down syndrome, could be considered as candidates for organ transplantation. (Status: Yet to begin.)

The way this is worded, it sounds to me like we need research to tell us whether our children should be given life-saving surgery…  ???  

The Good News

Most of the goals listed pertain to cognition and Alzheimer’s (AD) research.  While this is extremely important, it is not the only issue of concern.  For this summary, I concentrated on those things that were not AD related.
Highlights for parents and caregivers of adults include initiatives to:

  • create and evaluate new technology, 
  • study the impact of aging on families and caregivers, and 
  • develop the research infrastructure needed to investigate racial disparities in health and survival rates.

Develop and/or adapt assistive devices, such as Global Positioning Systems (GPS) and mobile devices, to facilitate integration of an individual with Down syndrome into the workplace, residential or home environment, and community.  (Status: In progress.)

As the lifespans of individuals with Down syndrome continue to increase, investigate the impact on families of caring for them as they age.

Develop a more complete demographic knowledge base, including factors that may contribute to differential survival rates among racial/ethnic groups, about individuals with Down syndrome. Use population-based data whenever feasible.  (Status: In progress)

Continue to include cohorts of people with Down syndrome in appropriate longitudinal epidemiologic research and cross-sectional studies, including those investigating the trajectory and risk factors for psychopathology across the lifespan. Work toward the development of an adult cohort of people with Down syndrome in different areas of the United States.  (Status: In progress.)

Consider ways to include participants with Down syndrome, including those of racial or ethnic minorities, in NIH-funded clinical trials.  

What’s Been Done

Progress reported since 2007 that directly affects parents and caregivers of adults (not including Alzheimer’s specific initiatives) include:

  • Better defined common effects of aging in people with Down syndrome
  • Found that families (including parents and siblings) of individuals with Down syndrome have better quality of life than families with a member who has another developmental disability
  • Formed the Down Syndrome Consortium
  • Launched DS-Connect®: The Down Syndrome Registry
  • Developed and validated a battery of cognitive tests to capture the range of effects of Down syndrome

What the Community Asked For

The authors of the report asked for input from the community. Some suggestions support collecting and sharing information on adulthood.

  • Support innovative efforts to increase physical fitness for obesity prevention and cognitive improvement – Agreed; revised
  • Develop a website to share research-related information about Down syndrome – Agreed; revised
  • Increase collaboration with the Down syndrome community – Agreed; revised 
  • Expand the population statistics collected on Down syndrome – Agreed in part; this is the Centers for Disease Control and Prevention’s (CDC’s) purview 
  • Collect data on differential survival rates among sub-populations of people with Down syndrome – Agreed; revised 
  • Support longitudinal research on the risk factors and trajectory of psychopathology in people with Down syndrome – Agreed; revised 
  • Develop a cohort for studies on adults with Down syndrome – Agreed; revised
  • Study the lifespans of parents of individuals with Down syndrome, considering the development of Alzheimer’s disease in the mothers – Agreed; see D.5
  • Investigate the role of caretakers of people with Down syndrome – Agreed; see D.5

20 research articles published since 2007 that may interest caregivers of adults:

An extensive bibliography of research articles was also included in the report.  I’ve pulled out 20 to look into for “The Research Corner” here on The Road We’ve Shared.  
Capone GR, Aidikoff JM, Taylor K, Rykiel N. (2013.) Adolescents and young adults with Down syndrome presenting to a medical clinic with depression: Comorbid sleep apnea. Am. J. Med. Genet, 161(9): 2188-96

Disabil, Jan;116(1): 3-15. Erratum in Am J Intellect Dev Disabil, 2011, May;116(3): ii

Esbensen AJ, Mailick MR, Silverman W. (2013.) Long-term impact of parental well-being on adult outcomes and dementia status in individuals with Down syndrome. Am J Intellect Dev Disabil, Jul;118(4): 294-309.

Esbensen AJ, Seltzer MM, Greenberg JS. (2007.) Factors predicting mortality in midlife adults with and without Down syndrome living with family. J Intellect Disabil Res, Dec;51(Pt 12): 1039-50

Esbensen AJ, Seltzer MM, Krause MW. (2008.) Stability and change in health, functional abilities, and behavior problems among adults with and without Down syndrome. Am J Ment Retard, Jul;113(4): 263­ 77

Esbensen AJ, Seltzer MM. (2011.) Accounting for the Down syndrome advantage? Am J Intellect Dev

Esbensen AJ. (2010.) Health conditions associated with aging and the end of life of adults with Down syndrome. Int Rev Res Ment Retard, 39(C): 107-126

Fisher MH, Moskowitz AL, Hodapp RM. (2013.) Differences in social vulnerability among individuals with autism spectrum disorder, Williams syndrome, and Down syndrome. Res Autism Spectr Disord, Aug1;7(8): 931-937

Head E, Silverman W, Patterson D, Lott IT. (2012.) Aging and Down syndrome. Curr Gerontrol Geriatr Res, 2012: 412536

Krinsky-McHale SJ, Devenny DA, Gu H, Jenkins EC, Kittler P, Muety VV, Schupf N, Scotto L, Rycko B, Urv TK, Ye L, Zigman WB, Silverman W. (2008.) Successful aging in a 70-year old man with Down syndrome: A case study. Intellect Dev Disabil, Jun;46(3): 215-28.

Krinsky-McHale SJ, Devenny DA, Kittler P, Silverman W. (2008.) Selective attention deficits associated with mild cognitive impairment and early stage Alzheimer’s disease in adults with Down syndrome. Am J Ment Retard, 113(5): 369-86.

Krinsky-McHale SJ, Jenkins EC, Zigman WB, Silverman W. (2012.) Ophthalmic disorders in adults with Down syndrome. Curr Gerontol Geriatr Res, 2012: 974253.

Lott IT, Doran E, Nguyen VQ, Tournay A, Head E, Gillen DL. (2011.) Down syndrome and dementia: A randomized, controlled trial of antioxidant supplementation. Am J Med Genet A, Aug;155A(8): 1939-48.

Lott IT, Doran E, Nguyen VQ, Tournay A, Movsesyan N, Gillen DL. (2012.) Down syndrome and dementia: Seizures and cognitive decline. J Alzheimers Dis, 29(1): 177-85

Maenner Mj, Smith LE, Hong J, Mukuch R, Greenberg JS, Mailick MR. (2013.) Evaluation of an activities-of-daily-living scale for adolescents and adults with developmental disabilities. Disabil Health J, Jan;6(1): 6-17.

McKelvey KD, Fowler TW, Akel NS, Kelsay JA, Gaddy D, Wenger GR, Suva LJ. (2013.) Low bone turnover and low bone density in a cohort of adults with Down syndrome. Osteoporos Int, Apr;24(4): 1333-8.

Skotko BG, Levine SP, Goldstein R. (2011.) Self-perceptions for people with Down syndrome. Am J Med Genet A, Oct;155A(10): 2360-9.

Urv TK, Zigman WB, Silverman W. (2008.) Maladaptive behaviors related to dementia status in adults with Down syndrome. Am J Ment Retard, Mar;113(2): 73 – 86

Urv TK, Zigman WB, Silverman W. (2010.) Psychiatric symptoms in adults with Down syndrome and Alzheimer’s disease. Am J Intellect Dev Disabil, Jul;115(4): 265-76. 

Wallace RA, Dalton AJ. (2011.) What can we learn from the study of Alzheimer’s disease in patients with Down syndrome for early-onset Alzheimer’s disease in the general population? Alzheimers Res Ther, Apr19;3(2): 13

Zigman WB, Schupf N, Jenkins EC, Urv TK, Tycko B, Silverman W. (2007.) Cholesterol level, statin use, and Alzheimer’s disease in adults with Down syndrome. Neurosci Lett, Apr18;416(3): 279-84.

Zigman WB, Silverman W. (2013.) Atypical aging in Down syndrome. Dev Disabil Res Rev, Aug;18(1): 51-67.   

The Future of Research

The full report represents a great deal of hard work and determination from numerous professionals.  While Ds remains least funded major genetic condition by our National Institutes of Health (NIH) according to the Global Down Syndrome Foundation, it’s obvious from this report that there are a lot of people trying to make the most of what they have and encouraging growth in the field.  

Health in Adults who have Down syndrome – 5 Areas of Concern

Research summary by Stephanie Holland

Lack of yearly physical exams / limited access to care:

Research suggests (1) that primary care physicians may be able to respond to complaints, but may not be completing much needed preventative medicine options.  Some doctors are unwilling to accept Medicaid patients, or patients they perceive as complicated (requiring more time / resources). They may feel inadequately trained to accept patients with intellectual and developmental disabilities.

Lack of emotional support:

Often people with developmental disabilities are surrounded by paid caregivers.  One study found “A full 24.0% of these adults reportedly had no one to talk to about personal things or often felt lonely, a significantly higher rate than in the No Disability group.” (2)  “The most common forms of stress reported in these studies include: hearing people argue, death or serious illness of someone close, constantly being interrupted, and not being quick enough. Interestingly, interpersonal stress seems to be most common. This may be because people with ID typically have limited control over who they are with and have limited ability to escape or end negative social interactions.” (3) Depression and behavior changes can result and impact overall health.

Dental disease:

“People with ID have poorer oral hygiene and higher prevalence and greater severity of periodontal disease. Caries rates in people with ID are the same as or lower than the general population. However, the rates of untreated caries are consistently higher in people with ID. Two subgroups at especially high risk for oral health problems are people with Down syndrome and people unable to cooperate for routine dental care.” (4) Many patients with intellectual disabilities rely on Medicaid, which does not offer adult dental coverage. Dental disease can contribute to a variety of other health issues.

Early onset Alzheimer’s disease and dementia:

People with Down syndrome are prone to early ageing and Alzheimer’s disease. Personality and behavioral changes, and a decrease in cognitive and language ability are indicators of the disease. (5)  There is a tendency for providers and caregivers to overlook other issues that may present as a decline in functioning. (6)  Other factors, including sleep issues, sensory and musculoskeletal impairments, and depression (7) need to be ruled out.

Age Related Comorbidity:

There is a higher probability that adults with Down syndrome will develop visual and hearing impairments, epilepsy, thyroid disorders, and dementia.  Osteoporosis, obesity, diabetes, poor dental health, and the effects of taking several medications for a long period of time also diminish overall health. (8)

Resources:

(1) Lunsky, Yona, et al. “Periodic health examinations for adults with developmental disabilities Are we doing enough?.” Canadian Family Physician 60.2 (2014): 109-110.

(2) Havercamp, Susan M., Donna Scandlin, and Marcia Roth. “Health disparities among adults with developmental disabilities, adults with other disabilities, and adults not reporting disability in North Carolina.” Public Health Reports 119.4 (2004): 418.

(3) Lunsky, Yona. “The impact of stress and social support on the mental health of individuals with intellectual disabilities.” salud pública de méxico 50 (2008): s151-s153.

(4) Anders, Patrick L., and Elaine L. Davis. “Oral health of patients with intellectual disabilities: a systematic review.” Special Care in Dentistry 30.3 (2010): 110-117.

(5) Määttä, T., et al. “Adaptive Behaviour Change and Health in Adults with Down Syndrome: A Prospective Clinical Follow-Up Study.” (2014).

(6) Torr, Jennifer, et al. “Aging in Down syndrome: Morbidity and mortality.” Journal of Policy and Practice in Intellectual Disabilities 7.1 (2010): 70-81.

(7). Wark, Stuart, Rafat Hussain, and Trevor Parmenter. “Down syndrome and dementia Is depression a confounder for accurate diagnosis and treatment?.” Journal of Intellectual Disabilities (2014): 1744629514552152.

(8) Glasson, E. J., D. E. Dye, and A. H. Bittles. “The triple challenges associated with age‐related comorbidities in Down syndrome.” Journal of Intellectual Disability Research 58.4 (2014): 393-398.

Issue Monday – Research

Down syndrome research is one those topics that divides our community.  Some feel strongly that research can provide answers to medical questions and new drug therapies are necessary to improve cognition.  Others point to the less than ethical tests that have been forced on people with intellectual disabilities in the past and feel just as strongly that research is too dangerous and unnecessary.  
Here at The Road, our team is as divided on this issue as well.  We all have different views about research in general and specifically when it comes to projects like Ds-Connect (the national Down syndrome registry), and cognitive enhancement.  As a result, we present different perspectives and welcome polite discussion about all kinds of Ds research.

Research on The Road We've Shared

Cognition Research

In a recent webinar put on by LuMind, Dr. Michael Harpold described what he sees as the reason the type of research they focus on, cognitive enhancement, is so important:

Really, the ultimate goal of this [cognition research] is creating new opportunities for every individual with Down syndrome be they children or adults; to live more independent lives, to participate more successfully in schools and employment, and ultimately…to prevent the additional cognitive decline that comes along with the earlier onset of Alzheimer’s disease in individuals with Down syndrome.

During the discussion he also pointed out that biomedical research can lead not only to new and safe drug therapies, but also “new and more effective interventional strategies in education, employment, and independence.”  He claims that once they understand better how the specific areas of the brain work, that information can be used to adapt classrooms and create other non-pharmaceutical interventions.  One of the important examples of this is the new Arizona Cognitive Test Battery (ACTB) for individuals with Down syndrome.

Developed in 2010, the purpose of these tests was to replace regular IQ tests. They are described as “the first cognitive test battery specifically designed for use in individuals with Down syndrome across a range of ages and ability levels.” Doctors realized that they needed a better way to evaluate cognition in people with intellectual disabilities if they were going to prove that new drugs actually worked.  The ACTB can also be used now to get a better sense of decline in functioning associated with Alzheimer’s dementia, and a host of other things that the old IQ tests used to do ineffectively.

Research on The Road

We’ve written quite a bit about the topic of research on The Road:



We also talked to some of the doctors involved with creating the Down syndrome registry: NIH Talks about Ds Connect – The Down syndrome Registry


Did you know that there’s a section of the registry specifically about adulthood?  The questions are designed to collect information about things like what kind of medical and dental care adults receive and what kinds of health issues they are experiencing.  The adult module is currently being revised soon there will be two new sets of questions specifically about male and female health issues for adults.

We understand that the decision to join the registry or not is one that each individual family should make on their own, we want to help get information out to our community so that each family can make an informed decision on their own.  Now that we have a relationship with a few great women at NIH, we’d be happy to pass along any questions or concerns you may have.

NIH and The Road We've Shared

Melissa Parisi and Sujata Bardhan from NIH with Stephanie Holland at NDSC Convention in Indianapolis

Alzheimer’s Disease

Alzheimer's Disease and Down syndrome

Of course, the biggest news and focus on research in our community concerns the link between Alzheimer’s disease and Down syndrome.  

We recently found out that the National Institute on Aging has announced a research grant for a study to look at the long term effects of Alzheimer’s in adults with Down syndrome.  This will be important for us to understand the course of the disease and how it manifests in our loved ones.  

Endless Possibilties

But research is not all about biology.  My focus, as a trained qualitative researcher has been on other things, like disability in Disney films, Down syndrome in children’s literature, and how parents of adults in my son’s generation define advocacy.  Right now, I’m working on a project to review all the books for children and young adults that feature a character who has Down syndrome and are available on Kindle through Amazon.  (Stay tuned for updates on that project in the coming months.) 

There are lots of research projects out there that look at things like quality of life for aging people with Ds, disability and poverty, and parenting.  We also need to press for an updated study on life expectancy of people with Ds in different racial groups.  

The data in the previous study is not only scary, it’s unacceptable.

Median age at death of persons with Down syndrome by race - 1968-1997

We’ve posted a petition to gather support for advocacy around this issue.  We feel that it’s important enough to be a top priority for our national organizations.  If you think so too, please sign our petition and share it within your networks.

I want to know why!

Tweet: I want to know why! http://ctt.ec/8b9H7+ Research needed for life expectancy by race with Down syndrome. #DsRoad

We’ll continue to post news from around the web regarding all kinds of research in our weekly newsletter - Signposts on The Road, in our regular blog, and in the Research Corner of our website.

Whatever corner you’re in when it comes to Down syndrome research, we hope you’ll join in the discussion here on The Road.  Tell us your concerns.  Why do you support research? What kind of research is most important to you?

Silly Research Studies

Things That Make You Go Hmmmm….

Sometimes research studies really make you wonder – “Who thinks up this stuff?”  Did we really need a rigorous analysis of soggy breakfast cereal Seriously, from my years as a waitress in a bar I could have told them that  People who think they are drunk also think they are attractive.  And who on earth really needed to know that nose picking is a common activity among adolescents?

It really makes you wonder.  

Here’s another of those overpriced nuggets of knowledge that Disability Scoop thought was “scoop”: 

Parenting Style Has Big Impact On Kids With Disabilities.”

Really?!

Are we supposed to believe that somewhere, someone thought that kids with disabilities are THAT different from other kids?  And just in case you’re curious, here’s a whole journal issue dedicated to finding out that “growing up in poverty influences education and employment outcomes for students with disabilities.” 


Special Issue: Disability and Poverty

My special favorite study in this issue looks at the probability that children whose parents are on welfare will attend postsecondary education.  

So, hmm, if you’re poor, and you have a child with a disability, you’ve got twice the obstacles to overcome. 

(Could have saved them a lot of money on that one!)

What’s the Point, Really?

Now, I understand that most research, though it may sound trivial to those of us outside of the loop, has a purpose.  The only way we learn new things is to look at what we know in different ways.  Sometimes, researchers discover something important, and it usually happens when they least expect it:  it wouldn’t be a breakthrough if they expected the outcome they got.  There’s also another reason for spending the time and money to do these kinds of studies: politicians like numbers.  

If you were to go up to Honorable Senator So-n-So and say, “We need to help parents of young children who have disabilities” or “Our state needs more parent training in poor neighborhoods,” you’d probably get an answer like, “it’s not in the budget,” or “we already have Head Start.” Anecdotal evidence doesn’t carry much weight in the policy making world.  Don’t get me wrong, personal narratives are powerfully persuasive, when you have enough of them saying the same thing; but without an official “study” that puts those narratives together and gives them an academic stamp of approval, it can be hard to get anyone in power to listen. 

The studies listed above may seem like a colossal waste of resources at first glance.  If these studies are left to sit on the shelves of some dusty library (oops, I’m showing my age again) abandoned in cyberspace, they would be.  On the other hand, if parents, advocates, educators, and other concerned citizens make use of them in the right way, they can be powerful tools.

“We have proof of what we need to create change!”

I still haven’t found a use for the “nose picking” study, but that’s not my area of interest.   I’m not sure how you teach “positive parenting” either, but that’s for the curriculum experts to figure out.  My job, as a parent / advocate, is to find things that can be changed, in order to make life easier/better for those who come after me.   

Research is one step on that path.