Category Archives: Research

I Can Be a Father (With Down Syndrome)

Has your son who’s 5’ 4” (or shorter) told you that he’s going to be an NBA player? Has your beautiful daughter who has weak ankles and knees spoken to you about her dream of becoming a prima ballerina? Does your son who has absolutely NO rhythm and can’t carry a tune in a bucket proclaimed himself to be a bona fide rock star?

That last one is mine. My son has identified himself as a rock star since he was a toddler. I’ve decided to go along with the dream even though I cringe a little every time he sings. That’s what moms are for – to help their children do whatever it takes, within reason, to achieve their goals. He’s also demanded at different times that he’s going to be president, the King of bowling, and a WWE superstar. I agree enough to give him self-confidence but we both know none of those things are likely to happen.

It’s one thing when the dreams children dream aren’t feasible because their bodies just aren’t built that way. Not everyone can be a professional athlete or leader of the free world. [Not going there but wouldn’t it be nice if someone with Down syndrome ruled the world.]

But what about when the dream is physically possible, but not “socially acceptable?”

As often happens, the stars have aligned to make me face a difficult topic I’d otherwise let disappear into the grey mist of my memory. The place that holds dreams I’ve given up on and hopes for Josh that make us both sad.

We were sitting in our recliners in the living room watching TV (as usual) and someone said, “What kind of father is he?” Josh let it sink in a moment and then turned to me and said, “I can be a father.” I must have had the definition of deer in the headlights look on my face. I couldn’t speak for a few moments. He’s used to me ignoring him at times when we’re engrossed in a show. He usually takes a few seconds to decide whether it’s worth continuing the conversation or not. I seriously hoped he’d let it go and return to the show. No such luck.

“Right?” he said as he stared at me, waiting for an answer.

I choked out “uh huh” without looking at him. My 32-year-old son was wondering if he’d ever be a father. I was completely unprepared and at a loss for words. He let it go at that, thankfully.

But the universe was not done with me.

I’ve set up a Google Scholar alert to send me an email when new research is published with the words Down syndrome in the title.  On 5/16 I got this:

Down syndrome and infertility: what support should we provide?

E Parizot, R Dard, N Janel, F Vialard - Journal of Assisted Reproduction and Genetics, 2019

Down syndrome (DS) is the most common genetic disease at birth; on average, it affects 1 in 700 newborns. The syndrome features cognitive impairment, susceptibility to certain diseases, and (in some cases) congenital malformations …

Okay… Now that’s a new one. The study appeared in the Journal of Assisted Reproduction and Genetics. It started with the usual, people with Ds are living longer and being more included in society so new areas of research appearing: “Access to procreation is an emerging debate.” The researchers claimed that they wanted to stay away from the controversial ethics, the “should we,” debate and look first at the literature available on fertility and “associated genetic risk.”

Here’s a snapshot of what I got out of the study:

We’ve decided it’s no longer appropriate to sterilize people with intellectual disabilities .

“In the past, sterilization of patients with intellectual disability was the rule; it was assumed that such people were not able to take care of or educate their children, and should not be allowed to risk transmitting their intellectual disability to offspring.”

There’s no test for parenthood in the typical population.

“The true risks for children born to parents with intellectual disabilities have not really been established. Furthermore, there are no cognitive prerequisites for parenthood in the general population or among people seeking to access assisted reproductive technology (ART).”

Fertility is a medical issue in both males and females with Down syndrome but in different ways.

“Only three cases of spontaneous conception in men with DS have been described in the literature.” The low incidence may be from low sperm count or other biologic reasons.”

“Women with Ds are fertile, since many cases of maternity have been reported. However, the literature data have highlighted early menopause in women with Ds (relative to a healthy population) …

“According to the literature data, all the children fathered by a man with DS (with or without ART) have been healthy. In contrast, one out of three children born to a woman with DS themselves have DS.”

If people with Down syndrome want to have children someone else makes the decision about whether they are allowed to or not.

“Conclusion

The literature data suggests that fertility is impaired in people with DS. Nevertheless, some people with DS have become parents, and others are seeking to have children. A case-by-case evaluation appears to be necessary, in order to assess (i) the person’s ability to care for and educate a child and (ii) the rationale for access to ART and/or oocyte donation programs. Such evaluation needs to be multidisciplinary including psychologist and clinics/practitioners willing to undertake these cases. Furthermore, the cost and access to treatment in countries without insurance or that are government funded must be considered; DS may not be able to afford assisted reproduction.”

After reading and trying to digest this study I was even more confused. First, what made these researchers choose this topic?  But ultimately, should others have the control over something so personal? And if so, how does one decide?

And the universe persisted…

Everybody In PodcastWhile listening to a favorite podcast on TuneIn Radio I decided to search for “Down syndrome.” The podcast “Everybody In” came up. The description said “Faith Vidrine, the co-host of “Everybody In,” experiences Down syndrome.”  As I’m listening to the first episode I hear Faith say:

“You know how women always get pregnant or something. It really feels like I can’t because of my disability. I don’t know why my sisters keeps telling me I can’t have babies. You know. Every time I see those kind of women, you know, it really feels like, why can’t I have a baby you know. They’re just I know they’re a lot to handle, but I can see the other side.”

The three women on the podcast wonder how much the fact that they don’t have children was a choice they made or a product of society and disability.

Then, one of my best friends sent me something she saw on Twitter:

Which made me wonder how many adults with Down syndrome understand their own bodies and what resources are available to help people.

And last, but not least, the story of Sadler Issa came across my screen.

In the article Issa talks about his relationship with his father:

“When his father introduces him to someone new, Issa said he is full of pride. “It’s like he’s saying: ‘I have Down syndrome, but I raised my son and did everything to help him become a doctor who treats people. I’m proud of him.’”

Nic Allen and Lisa Newtop
Like Nic’s page on Facebook!

 

Oh! Also this week this heartwarming picture of Nic Allen, and his beautiful mother Lisa Newtop, both of whom have Ds, came across  my Facebook feed.

 

 

So, I’m not sure whether the universe is finished with me on this topic yet, but I figured there was enough here to share.  I’m guessing that was the point – to convince me to write about a subject that gets little attention.

Or maybe it was aimed at getting me more prepared to respond to my son the next time he brings up this topic.

Either way, I’m not sure I’m comfortable with the common thread of all these stories – that adults with Down syndrome rarely, if ever, gets to decide whether or not they want to become parents.

Can we talk?

All About Dental Care: Death, Research and Advocacy

The news story

A terrible story hit the news recently. It involved a young man who had Down syndrome who died after receiving dental care. The family of the man has been waiting for justice for four years.

We see too many stories like these: ones involving innocents who die at the hands of people in power who we trust with our loved ones. These stories make us wonder if we are doing all we can to protect our loved ones and the rest of our community.

So, how do we react?

We start with outrage.

Next, we learn all we can in order to hopefully prevent the story from happening again.

When it comes to dental work, caregivers for people with Down syndrome have two major concerns:

  1. Does my child need a special dentist?
  2. How do I get dental care for my child?

What is different about people with Down syndrome?

Some oral differences have been reported.

Some oral signs commonly found in those with Down syndrome include delayed eruption, small or congenitally missing teeth, macroglossia, malocclusion, and periodontal disease. Individuals with Down syndrome are less likely to develop carious lesions. Of those who have Down syndrome and are under the age of 30, 60% to 100% have periodontal disease. – RDH Magazine

It is believed that most dental procedures that are needed by patients with Down syndrome can be performed in a general dental office with minor adaptations.

The National Down Syndrome Society lists gum disease and cavities on the “dental issues” page of their website. They also offer this advice about finding a dentist for adults with Down syndrome:

For adults, general dentists’ comfort levels with some of the unique needs of people with Down syndrome may vary.  A general dentist who has completed a general practice residency, 1-2 additional years after dental school, has extra training in caring for patients with disabilities.  The Special Care Dentistry Association is a resource to find a dentist experienced in treating people with Down syndrome.

You can call your local dental school, because they will typically have residents or faculty who are experienced in caring for people with Down syndrome.

Some hospitals have dental departments and these dentists are typically trained in caring for people with Down syndrome as well.

There is a handout that caregivers can share with their dentist and one that may help at home. Both are published by the U.S. Department of Health and Human Services and the National Institutes of Health.

Why is it hard to get dental care for adults with Down syndrome?

“People with disabilities are often insured through Medicaid, the federal health care program for the poor and disabled. The program doesn’t always pay for dental care, and when it does, those payments often fall short of the costs.

That means it can be hard to find a dentist willing and able to do the work.” – NPR, 2016

Also, because most dental training does not include patients with special needs, providers may be hesitant to treat them. Nair, et. al, 2017.

Some dentists and hygienists who want to help find creative ways to do so.

“A patient with Down syndrome was so frightened that Eslinger started off cleaning his teeth in the lobby. Each appointment moved closer to the treatment room, until finally she persuaded him to get into the chair.” NPR, 2016

The research study

We found a recent study that addressed sedation for people with Down syndrome and “behavior disorders.”


“Psychoprophylaxis for oral conscious sedation for dental care in Down syndrome adults with behavioral disorder.”

Ferrary, Teresita & Sanchez Ratto, Noelia & Martinez, Daniel & Alvarez, Mayra & Lis Bianchi, Maria & Belen Benitez, Maria & Armada, Mariana & Echaide, Maite & Scagnet, Gabriela & Orman, Betina. (2019).  Special Care in Dentistry. 10.1111/scd.12382.

Down syndrome (DS) presents with prevalent diseases in the oral cavity and the need of constant dental care and follow‐up. The use of conscious sedation (CS) for dental care in adult DS with behavioral disorders is poorly documented. The aim of this study was to evaluate the effectiveness and safety of CS procedures with oral midazolam using previous psychoprophylaxis sessions in DS adult patients with behavioral disorders.

Methods: Twenty‐nine DS adults with behavioral disorders. The patients were managed with psychoprophylaxis followed by oral CS using 15 or 30 mg midazolam. Vital parameters were monitored. The Houpt and Brietkopf and Buttner scales were used.

Results: Patients under CS received an initial dose of 15 mg midazolam; however, 51.72% needed a 30 mg dose at the following sessions. Results showed that 71.4% treated with the 15 mg dose had Houpt scale overall behavior scores of 4 or 5, while 93.33% of those receiving 30 mg had scores of 5 or 6 (chi‐square = 15.95 p < .01).

Conclusion: Psychoprophylaxis sessions followed by CS procedures using oral midazolam in adult DS with behavioral disorders were shown to be a useful strategy to perform routine dental treatment safely. Midazolam produces anterograde amnesia, and participants were more cooperative in the following visits.

For those of us who are not in the dental or research professions, I’ll try to break down some of the vocabulary.

First, if you look up psychoprophylaxis, you’re likely to get “Also called Lamaze technique”

The Oxford English Dictionary gives us a more broad definition:

The prevention of disease or promotion of health and well-being by psychological means; especially a method of alleviating pain in labour by psychological training which includes techniques of relaxation and distraction.

Anterograde amnesia is a “partial or complete inability to recall the recent past, while long-term memories from before the event remain intact.”

And for those who want a description of the types of sedation used:

Midazolam – sedative. Can help patients feel relaxed or sleepy before surgery or medical procedures.

Conscious sedation – Procedural sedation and analgesia is a technique in which a sedating/dissociative medication is administered often in combination with analgesics. It allows a patient to undergo painful procedures by inducing decreased levels of consciousness but not requiring intubation as the patient ventilates spontaneously.

Sedation may be minimal, moderate or deep.

Minimal sedation is given only to relieve anxiety, with very little effect on patient awareness, while moderate sedation depresses consciousness, but leaves the patient capable of responding to external stimuli (tactile or verbal). In deep sedation, the patient only responds to painful or repeated stimuli – Dr. Damien Jonas Wilson, MD (www.news-medical.net)

If you would like to see a detailed breakdown of this study, check the slides here.

These researchers concluded that using psychological training and anesthesia that does not put patients completely to sleep is an effective technique for patients who may not want to cooperate with dentists.

How to help adults and caregivers

In addition to the resources we’ve shared here, Special Olympics may be helpful to athletes involved in their programs.

“Special Smiles is the dental health discipline of Special Olympics Healthy Athletes® that provides athletes with intellectual disabilities the opportunity to take charge of their oral health. Special Smiles provides comprehensive oral health care information, offers free dental screenings and instructions on correct brushing and flossing techniques to Special Olympics athletes. This also includes issuing preventative supplies, like toothpaste, toothbrushes and fluoride varnish.”- Special Olympics

Now that we have more information, we can work to get the issue more exposure. We can advocate for dental care to be included in Medicaid. We can help educate more professionals. We can spread the story of Tommy Myers.  And we can ask for more research into best practices.

Let us know if you have any advocacy projects that we can help promote.

Debate Over Study on Antidementia Drugs for Adults with Down Syndrome and Alzheimer’s Disease

In March 2018, 21 researchers published a study in the British Journal of Psychiatry called “Impact of cholinesterase inhibitors or memantine on survival in adults with Down syndrome and dementia: clinical cohort study.”

Aims: To investigate the effect of cholinesterase inhibitors or memantine on survival and function in adults with Down syndrome and Alzheimer's disease.The researchers noted that there have been few studies conducted, and therefore little information is available on how to treat adults with Down syndrome and Alzheimer’s disease. They set out to test specific antidementia drugs on people with Down syndrome and Alzheimer’s disease. Continue reading Debate Over Study on Antidementia Drugs for Adults with Down Syndrome and Alzheimer’s Disease

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