Category: Research

A cure for Down syndrome or a celebration of chromosomal diversity?

on and off toggle switch
An on/off switch for Down syndrome

(World Down Syndrome Day, March 21, 2014)

As some of you may know last summer, scientists at UMass Medical School made a big discovery. They learned that a naturally occurring X chromosome “off-switch” could neutralize the extra chromosome responsible for Trisomy 21, also known as Down syndrome.i

The approach used by Dr. Jeanne Lawrence was inspired by the natural process that silences one copy of the female mammals’ two sex-determining X chromosomes during embryonic development. To prevent females from overdosing on these X chromosome genes, evolution invented a genetic element whose job is to deactivate half of those X chromosomes. They remain in the genome, but are not functional – gene silencing helps maintain similar expression patterns of X chromosomes in females and males. The X-inactivation gene (XIST), a large non-coding RNA molecule which covers the surface of one of the X chromosomes of female mammals, permanently blocks the expression, or activity of the genes on the affected X chromosome.

Dr. Lawrence mimicked this natural process by inserting the XIST gene into the gene-rich core of the extra chromosome 21 in patient-derived adult stem cells. In these laboratory cells they found that the RNA from the inserted XIST gene induced modifications that silenced the genes of chromosome 21, returning gene expression to near normal levels, even when measured eight different ways.

Now while this has been hailed in the press as a “cure for Down syndrome”, we are still only at the testing stage and any application to human subjects is still years away.ii However this potential for “chromosomal therapy” has stirred up controversy in the Down syndrome community, not dissimilar to how the development of cochlear implants have impacted the deaf community.

At one end of the spectrum, we have folks saying, “why wouldn’t you want to fix your child?” In the current era of pre-natal testing, this may be a real treatment option one day, and might affect the abortion rates of pre-natally diagnosed pregnancies, which have been increasing with each new pre-natal test that comes onto the market. iii, iv

At the other end, most parents of children with Down syndrome don’t think their child needs “fixing” and wouldn’t change anything about them. In fact, some worry that attempting any kind of therapy, let alone chromosomal therapy, would affect their child’s personality, which they would not want to turn “off”.

Others say, only use gene-silencing therapy to combat the ill-effects of Down syndrome. But where do you draw the line? Sure, for the obvious health issues such as the heart, digestive, hearing and vision challenges (if these can be individually identified and isolated chromosomally – we “fix” these now post-natally), but what about cognitive impairment levels, which universally affect all individuals with Down syndrome? Who’s to say where cognitive impairment begins? An IQ of 65, 70, 75? Just this month, the Supreme Court decided to revisit a case involving the execution of criminals with “mental retardation”.v 12 years ago, they removed the death penalty for criminals with an intellectual disability but left the details of defining what constitutes intellectual disability to the states, resulting in a range of IQ being used to apply the law. And is IQ really the right measure anyway? I’d offer up EQ or Emotional Intelligence as an alternative – the last time I checked, my 9-year old son with Down syndrome had a higher EQ than most people I know.

This raises some ethical questions – with IVF allowing parents to chose what type of children they want (ranging from sex selection to avoiding certain undesirable genetic conditions such as Down syndrome), to pre-natal testing & selective abortion, can we as parents be trusted to exercise good judgement over our choice? Again, I ask – where do we draw the line? Technology is only going to get better and soon we’ll be able to test pre-natally for things like same-sex preference. I suspect the media coverage would be dramatically different if we discovered a pre-natal test for the “gay gene” or found a genetic “treatment” for homosexuality. The latter certainly wouldn’t be hailed as a “cure for homosexuality”.

Having three copies of our 21st chromosome is one of the most common spontaneous “alterations” in our attempts at reproduction and if this is a natural part of the human condition, shouldn’t we embrace this diversity, much as the way we celebrate our differences in gender, color, race, national origin, religion, and sexual orientation? Social resistance to genetic selection is emerging. Earlier this year, North Dakota became the first state in our nation to pass a law prohibiting abortion for sex selection or genetic abnormalities such as Down In social media, concern over genetic racism is rising. While chromosomal therapy might very well be a treatment in our lifetime, many in the Down syndrome community would like to propose a movement to celebrate chromosomal diversity instead. How very fitting in celebration of World Down Syndrome Day!

i Jiang, J. et. al. (2013). “Translating dosage compensation to Trisomy 21”. Nature, 500, 296-302.
ii Aleccia, J. (2011). “Could it be a cure?” NBC News., accessed February 2, 2014.
iii  Egan, J.F., et. al. (2011). “Demographic differences in Down syndrome live births from 1989 to 2006”. Prenatal Diagnosis, 31, 389-394.
iv  Messina, J. (2013) “Reflections on Down syndrome”. Disability INDEX. , accessed February 2, 2014.
v  Clark, M., “Supreme Court to Consider What Defines Intellectual Disability”. Disability Scoop. , accessed Feb 2, 2014.
vi  The Prenatal Non-Discrimination Act (PREDNA) was signed into law on March 26, 2013, details , accessed February 2, 2014.

Expression and Attention in Shriver Center Autism Research Studies

smiling young child wearing cap with wires attached

Over the past month in our 4-part series “Getting Involved in Shriver Center Research,” a common theme has emerged — the notion of “giving back.”  For Joyce, the mother of a 16-year-old daughter with Asperger Syndrome (AS), giving back influenced her decision to enroll her daughter in “Express Yourself” (EY) and “Look Who’s Talking” (LWT), two studies on expression and attention in teens with AS and high functioning autism (HFA). In addition, the “Detection Study” and “Focus of Attention” are two more great studies that explore attention and autism in children and teens.

For parents, giving back matters

Although Joyce grew up in New York, her daughter’s early life in Asia produced a very late diagnosis. “I am grateful to live in the U.S. where research is much bigger than in other countries,” she explained. “Studying AS and HFA, particularly in girls, motivated us to take the 40-minute drive.”

 For teens, receiving a stipend matters

When Joyce found the EY study online, she “made a deal” with her daughter by appealing to her desire to be compensated, since as a teen, “she ‘didn’t mind’ the pocket money.” The study maps facial expression in teens with AS and HFA by using the same motion capture technology (“MoCap”) used in movie animation (view demo video).  EY explores whether facial expression in these teens is different and possibly stigmatizing. The tiny reflective stickers used to map facial movement “didn’t bother” her daughter at all, according to Joyce.

For the IRB, safety matters

Joyce stressed her comfort knowing that these studies were safe based on the rigorous review from UMass Medical School’s Institutional Review Board (the “IRB”), which requires stringent human studies protections.  “She was in control. She could ‘assent’ to being in the study or could withdraw at any time,” Joyce explained. “Knowing this should put parents’ minds at ease.”

Joyce’s message to parents: “Doing it now!”matters

When asked what else parents should know, Joyce simply said, “Do something now.” “We don’t think about what our forerunners have done so our kids can benefit,” she continued. “The more data there is, the better we can understand autism.”

 A final thought

I have enjoyed sharing my and other parents’ perspectives answering the prevailing question about getting involved in research, namely, “What’s in it for us?”.  By getting involved in research, we can help move the science forward to help children like ours progress and benefit in the future.  Thanks for reading!

For more information about Shriver Center studies looking for participants, please visit

About the author

Elaine Gabovitch is the Director of Family & Community Partnerships at the E.K. Shriver Center and an instructor in the Department of Family Medicine & Community Health of UMass Medical School and Family Faculty for the Leadership Education in Neurodevelopmental Disabilities (LEND) Program at the Shriver Center.

Elaine Gabovitch
Elaine Gabovitch


Cracking the Code on Early Learning and Developmental Disabilities

Young boy smiling and holding magnifying glass in front of his face

Last week, families who participated in Shriver Center health promotion studies noted good health, making friends and advising research as some of the benefits. This week, we’ll focus on the Foundations of Learning study, a series of five studies that develop or improve educational procedures for children and teens with autism spectrum disorders, intellectual disabilities or Down Syndrome.

I recently spoke with Steve Trudeau, the father of five including Jacob, now age 16, and Ethan, age 13, who reflected on getting involved in Shriver Center research. Jacob has Down Syndrome and Ethan is typically developing; both participated in the Foundations study.

Paying it forward

When it comes to understanding the needs of people with Down Syndrome (DS), Steve had always wanted to give back noting the “long line of families” who had gone before his. He hadn’t been aware of any DS studies prior to Foundations.

“It seemed like a great way for researchers to learn more about it. It was a scientific way to help kids like Jacob in the future, and that’s what we’re all about.” He mentioned that forty years ago people knew very little about the disability, but recent studies have helped to improve misperceptions to the benefit of children with DS and their families.

It’s easy to do

Steve described a typical study session. “It was a two-year study and we came about every other month. The session only took one hour – not six, as you might think.” By working with their Shriver Center research assistant (also named Steve), the Trudeaus were able to fit the time into their schedule.

“Steve bent over backwards for us – he was fantastic. We didn’t have to scramble. It was an easy ‘in and out’.”
Moreover, the kids looked forward to it. “It was fun for them to match faces and shapes on the computer; it was a game for them.”

Seeing the Shriver Center from the inside

While the boys played computer games, Steve would walk around the Shriver Center looking at the research posters and other information hanging on the walls. “I didn’t know about all the work being done at the Shriver Center before…it warmed my heart.”

Anticipating the findings

Lastly, Steve commented on looking forward to the study findings knowing his family contributed to the outcomes. “I can’t wait to see the results. If we have helped children in the future by participating now, it was well worth it.”

We’ll complete our four-part series on the benefits of getting involved in Shriver Center research next week when we’ll look at our studies dedicated to attention, expression and autism. Hope you’ll join me then!

About the author

Elaine is the Director of Family & Community Partnerships at the E.K. Shriver Center and an instructor in the Department of Family Medicine & Community Health of UMass Medical School and Family Faculty for the Leadership Education in Neurodevelopmental Disabilities (LEND) Program at the Shriver Center.

Elaine Gabovitch


Shriver Center Research Promotes Healthy Children and Youth

Shriver Staff member high fives Health U participant

 Last week I mentioned that the timing, topic, and desire to “give back” all contributed to our reasons for enrolling in Shriver Center research. This week we learn why families are excited about participating in the health promotion studies at the Shriver Center with their children. As a parent, I was personally thrilled to see exercise and healthy eating becoming a priority for our children and youth through these creative studies.

Learning about healthy nutrition and physical activity

Studies like Health U. have offered youth with intellectual disabilities a curriculum, materials and regular meetings at the Shriver Center to learn about healthy lifestyles through proper nutrition and physical activity. Participants and parents try out positive food choices, portion control, meal preparation and exercise delivered in an accessible, club-like setting. Parents of participants praised Health U. for creating positive changes in their children.

“My daughter Sara looks at physical activity and eating in a whole new way. She has a foundation to build on now, everything from portion sizes and understanding healthy foods better to taking part in track and field,” said one parent named Robin.

Making friends

Physical activity intervention studies like TUFF have been offered to teens at neighborhood YMCA’s. Kids get to work out and make friends locally, while researchers learn what it takes to keep them active and engaged in a community setting.

Helping researchers learn something new

From the TRAC study, teens and their parents describe how they spend their time and wear accelerometers to track their movement for a week. This helps researchers develop a baseline for physical activity so they can set and measure physical activity gains in future studies.

Acting as community advisors

The SPARC study invited parents and physical education professionals to work as advisors to our research team to name, study, and support the design of a physical activity study for teens with ASD. The result was a social YMCA-based walking club using a curriculum, social stories, pedometers, accelerometers and other tools to engage teens and measure their activity in a fun intervention in the community.

Parent advisor Susan Sutherland explains why she became involved. “I definitely used my son as motivation,” she said. “I wanted to make sure he saw that opportunities would be open to him similar to others.” (SPARC will be profiled in the next Shriver Center Spotlight newsletter coming in March).

About the author

Elaine GabovitchElaine is the Director of Family & Community Partnerships at the E.K. Shriver Center and an instructor in the Department of Family Medicine & Community Health of UMass Medical School and Family Faculty for the Leadership Education in Neurodevelopmental Disabilities (LEND) Program at the Shriver Center.

Getting Involved in Shriver Center Research: What’s In It for Me?

Young boy involved in table top activity with researcher

This month we are  pleased to welcome our guest blogger, Elaine Gabovitch, who will share her personal experience as a parent participating in research at the Shriver Center.

The First Time

I remember the first time I signed up my then-10-year-old son for a research study. Combing through local disability listservs to find tips and resources to help him, I came upon a study posting from the Shriver Center about eating and obesity in children with Autism Spectrum Disorders (ASDs). Something about it caught my eye and caused me to call and find out more. What was it about this particular posting that made me act?

The Timing

Maybe it was because my son was 10 and the timing seemed right. At this age, we had gotten through the earliest, most urgent days of learning about and responding to his disability. We had some things in place that were starting to work. It seemed that we may finally have the time.

The Topic

Maybe it was because the study was eating habits, something that resonated for us. We had struggled through my son eating little more than chicken nuggets and pizza for many years, suffering through gag reflexes from the smells of certain foods. I worried about how to help him eat better. Answering questions might give me a way to make sense of it all, or at least help research learn enough to help kids like mine in the future.

Giving Back

Maybe it was because I wanted to give back to “the village” of people who had helped us. The researchers at the Shriver Center were not the same professionals who assisted our family in the early days, but there was something about helping them understand this thorny problem that felt right.
Whatever the reason was, something tipped my decision scale and we signed up. And it was interesting, fun, and most importantly, easy to do. But the timing had to be right, and we all had to be ready. Once we were, it was a wonderful experience that I encourage families to try.

Years later, I now work at the Shriver Center and think about research a lot. I see many families getting involved in research as I once did. It is gratifying to see them helping to expand Shriver’s knowledge base through taking part in our studies.

There are many reasons to get involved in Shriver Center research that answer the question, “What’s in it for me?” We’ll start to answer that question next week by looking at the Shriver Center’s health promotion studies, such as the one we participated in all those years ago.

About the author

Elaine is the Director of Family & Community Partnerships at the E.K. Shriver Center and an instructor in the Department of Family Medicine & Community Health of UMass Medical School and Family Faculty for the Leadership Education in Neurodevelopmental Disabilities (LEND) Program at the Shriver Center.

Elaine Gabovitch
Elaine Gabovitch