Sometimes bad behavior is a sign of a health issue. For many children with an intellectual disability (ID), the first sign of a health issue can be a change in behavior. Sometimes people think the ID is the reason for the behavior. And the health issue is missed.
Our Story: School Problems
I am the parent of a child with Down syndrome. In fourth grade, our daughter’s teachers told us she had been struggling with behavior issues every day. They said she was tired. And they said she couldn’t handle a full day of school. They said school was hard for her because she spent the day with peers who were not delayed. She had problems for weeks, but they didn’t tell us.
Testing Reveals Tummy Trouble
Around the same time, our daughter had a triple-scope of her GI system. The doctors wanted to know if she had celiac disease. (Celiac disease causes the body to get sick when a person eats wheat.) Instead, we found out that she had very bad reflux disease (GERD). The GERD made her belly and throat hurt a lot. Right away, she started medicine to reduce the amount of acid in her stomach. And we changed her diet to remove the food that hurt her tummy the most.
At our next meeting with the school, we talked about my daughter’s behavior problems again. The school said they saw a problem every afternoon around 1 PM.
Putting It Together
At the meeting, we shared the “home update.” Part of the update included the results of the tummy testing. We also talked about the changes to her diet that we were making at home. One of the teachers spoke up. “I guess we should stop letting her buy orange juice at lunch every day?” And there it was. We had our answer to the afternoon behavior problems. Orange juice can increase painful reflux, and probably made her tummy hurt every day.
Figuring Out Our Mistake
We had all attributed her behavior to her disability. Low energy? We figured it was due to Down syndrome. Feeling overwhelmed by the classwork, and the language demands of her peers? That was caused by her low IQ. The school was so certain that her behavior was related to her disability, and not a sign of something medical, that they let weeks elapse before bringing the problem to our attention. As her parents, we did not suspect a medical cause either. It was only luck and good timing that caused us to do the GI testing at that time, giving us the answer to a question we didn’t know we still had.
For people with intellectual disabilities, physical distress is often associated with changes in mood, mental status, and behavior, as a significant “setting event” (an event that increases the probability of occurrence of problem behaviors). (Gardner & Whalen, 1996;, Gunsett, Mulick, Fernald & Martin, 1989; Carr, Smith, Giacin, Whelan, & Pancari, 2003).
Despite the documented link between health concerns and problem behaviors, medical causes for agitated behavior may frequently be missed in people with ID because they are often poor reporters of their own health issues. (Charlot, Abend, Ravin, Mastis, Hunt & Deutsch, 2011)
When a change in behavior is observed, medical causes should be considered first. This is true of all children. It is especially true for children with ID. Children with ID are often less able to share that they are hurting somewhere. And research has demonstrated that behavior problems due to health issues are missed in people with ID. Their caretakers should first figure out if any behavior is related to a medical cause.
For more information about behavior issues that are not caused by health issues, the book Supporting Positive Behavior in Children and Teens with Down Syndrome contains a wealth of information. (David Stein, Psy.D., Woodbine House, 2016)
Choices. Often, choices are good. But sometimes, as a parent of a child with Down syndrome, I must choose between two bad options.
My daughter is 13. In addition to Down syndrome, she has scoliosis, or a curve in her spine. She also has sleep apnea, where the back of her throat closes when she sleeps. Sleep apnea causes her body to wake her so she can breathe normally. But waking up so much makes her sleepy all day. The simplest treatment for my daughter’s form of sleep apnea is to sleep on her stomach to keep her throat more open and help her sleep better. The treatment for scoliosis is to wear a Boston brace. It’s a hard plastic device that gently pushes on her rib cage to keep her spine from curving more.
But wearing a Boston brace and sleeping on her stomach together add up to a sleepless night for my child. We work on it. We try to add time in the brace. We try to keep her from flipping on to her back as she sleeps. But after weeks of waking many times a night for both of us, I’m right back to the newborn days of 3 AM feedings and 4 AM diaper changes. My daughter falls asleep on the beanbag chair at school. I nearly fall asleep in the car line for school pick-up. No one is happy. Something must give.
We must make a choice between these two treatments, weighing the short term impacts and the long term impacts. Without the brace, the spinal curve may progress over time. If it does, my daughter may need spinal surgery. It’s a big “if”. But wearing it means she gets a terrible nights’ sleep, every night, and so do I. It feels too hard to weigh the choice between sleep now and the fear of possible surgery in the future. But the immediate need for more sleep wins, and we ditch the Boston brace.
We go for the sure thing -more sleep- and keep our fingers crossed that the curve in her spine doesn’t get worse. It’s a terrible choice to have to make. And there are no do-overs, no second chances. My daughter now sleeps well, but I still toss and turn some nights, second guessing our choices. I worry about possible surgery in the future. I wonder if we tried hard enough to make it all work at the same time. Did we make the right choice?
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 syndrome.vi 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. https://www.nbcnews.com/health/could-it-be-cure-breakthrough-prompts-down-syndrome-soul-searching-6C10879213, 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. https://www.disabilityinfo.org/blog/?p=3682 , accessed February 2, 2014.↩
v Clark, M., “Supreme Court to Consider What Defines Intellectual Disability”. Disability Scoop. https://www.disabilityscoop.com/2013/12/10/supreme-court-intellectual/18959/ , accessed Feb 2, 2014.↩
vi The Prenatal Non-Discrimination Act (PREDNA) was signed into law on March 26, 2013, details https://legiscan.com/ND/bill/1305/2013 , accessed February 2, 2014.↩
Evan and Michaela, the Author’s two children
Since October is Down syndrome Awareness Month, I thought I would dig into some critical statistics in this community to understand what’s behind the numbers. Much has been said and written in the popular American press about the 90% plus termination (abortion) rate when a pregnancy receives a definitive pre-natal diagnosis of Down syndrome. Diverse sources from the New York Times to politicians Sarah Palin and Rick Santorum have used this statistic.
The 92% statistic actually comes from a systematic international study (Mansfield et. al.) of 10 individual studies conducted between 1980 and 1998.i Its sample of 5,035 patients only included 77 U.S. individuals drawn from three U.S. studies, all of which were conducted in the 1980s. So while technically correct globally, the U.S. sample is small and the study is not contemporary. Also this study showed great variation in termination rates not only amongst countries, but also across different regions of the U.S.
So while this 92% statistic is often referenced it may not be as applicable to the current U.S. population. A more recent review of 24 available U.S. studies conducted between 1995 and 2011, show this rate ranging from 50 – 90% depending upon the sample size and geographic location, again showing great variation across different regions in the U.S.ii However, even taking a simple average of the range, this means the majority of U.S. pregnancies that receive a definitive diagnosis of Down syndrome are terminated.
Note also that this statistic only applies to definitive tests for Down syndrome. Historically only 2-3% of pregnant women would chose chorionic villus sampling (CVS) or amniocentesis, the only definitive tests (99% accurate) for Down syndrome. These returned results generally only in the 2nd trimester and were expensive, invasive tests with risks of miscarriage. Thus, they were only recommended for pregnant women above the age 35, the threshold age where the likelihood of Down syndrome occurring is higher (1 in ~750 for all pregnancies; 1 in ~385 for pregnant women at 35 years of age). However in 2011 inexpensive, 1st trimester non-invasive prenatal screening (NIPS) tests became available. NowAmerican Congress of Obstetricians & Gynecologists (ACOG) recommends screening for all pregnant women regardless of age. Sarah Cullen from the Massachusetts Down Syndrome Congress (MDSC) reports that since the introduction of , NIPS, their First Call Program has seen a 33% rise in the number of pre-natal (vs. post-natal) referrals.iii An increasing number of diagnoses are being delivered on a pre-natal basis and herein lies the problem….
History shows that when pre-natal tests are introduced, termination rates of pregnancies identified with the targeted anomaly increase. Down syndrome is no exception. 25 years ago when amniocentesis was the only definitive test for Down syndrome, researchers calculated that there was about a 20% abortion rate (4,474 live births vs. 5,633 projected births based on maternal age in 1989).iv Over the last 20 years, however, the abortion rate for pregnancies with a diagnosis of Down syndrome has skyrocketed. In 2006, ~8,000 live births of babies with Down syndrome were projected in the U.S. Yet only 3,989, babies with Down syndrome were born, implying an abortion rate of over 50%.
Now we do not know how many of the 3,989 women that had babies with Down syndrome received a post-natal diagnosis (either because they were not offered the test and were unaware that testing for Down syndrome is available, or they rejected the tests), or a pre-natal diagnosis (they received a positive pre-natal test result and made a decision to have a baby with Down syndrome). However, history repeats itself, given that there are now four companies offering NIPS tests and even more tests for Down syndrome in development, we can only expect an even greater increase in the abortion rate. Additionally, the recently passed Affordable Care Act is recommending universal screening for Down syndrome as “preventative care”. We see bias bleed into policy here since the only way to “prevent” Down syndrome is to terminate the pregnancy.
I live in Boston where the overwhelming majority of adults identify as “Pro Choice”. I would guess that some in this majority would be disconcerted by selective abortion of a planned baby. They might consider this an act of discrimination instead of an issue pertaining to reproductive rights. As we “advance” technologically with screening tests for more and more genetic conditions, aren’t we moving towards the elimination of certain sub-groups within our population?
Both my children are in the highest risk categories for being eliminated: a boy with Down syndrome and a girl of half-Chinese ancestry. In China and some Asian ethnic populations in the U.S., genetic testing is used to select for the sex of a child, leading to abortion when tests show positive for the undesirable XX chromosome. In most of the U.S., however 3×21 (3 copies of the 21st chromosome, or Down syndrome) is riskier for the child.
I find all of this troubling on many levels. While I myself am a Christian and believe in the value of all human life, I know many non-Christian parents of children with disabilities who espouse the view that no matter what the form or intellectual capacity, every individual has something of value to offer to the world. Though I was initially devastated with my son’s diagnosis of Down syndrome, I have learned to appreciate his many gifts. He has a joie de vie and a love for life that is unparalleled – an attitude towards life we could all learn from. He has taught me that “imperfection” is part of the human condition and this is what makes us human.
Which brings me to my last point: I wonder if our human genome is attempting to evolve to a better, higher more sophisticated form? Having three copies of our 21st chromosome is one of the most common spontaneous “alterations” in our attempts at reproduction. Dr. Dennis McGuire from the Adult Down Syndrome Center at Lutheran General Hospital in Park Ridge, Illinois posed the following provocative question: “What would happen if people with Down syndrome ruled the world?v Below is my Top 10 Summary, excerpted from his extensive list:
- Affection, hugging and caring for others would make a big comeback
- All people would be encouraged to develop and use their gifts to help others
- People would be refreshing honest and genuine
- People engaged in self-talk would be considered thoughtful and creative
- “The Rat Race” would not survive
- Work would be revered, no matter what kind, from doing the dishes to rocket science
- “Here and Now” (i.e. living in the present) would command a great deal more respect than it currently does
- Speed would be far less important than doing the job right
- Stopping to smell the roses would not just be a cliché
- People would not hurt the feelings of others. They also would not lie or keep secrets. Therefore there would probably be no secret service agents, spies, or terrorists
Given this, whose genome is actually more evolved?
I’d like to conclude by circling back to NIPS and what this means for us as a community. Virtually every couple that finds themselves pregnant will be offered a test for Down syndrome. This is seldom presented as optional, but it is. Instead of agreeing to be tested as part of routine pre-natal care, I challenge you to think about the purpose of such a test (and other such tests that you will no doubt encounter). Social resistance to pre-natal 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 syndrome.vi Perhaps there is a future for both my kids after all. And for the rest of us who have no immediate plans to become pregnant, I encourage you to meet with a family living with Down syndrome. You might be surprised how a short time spent could change the course of your life for the better.
i Mansfield et. al., “Termination rates after prenatal diagnosis of Down syndrome, spina bifida, anencephaly, Turner and Klinefelter syndromes: a systematic literature review”, European Concerted Action: DADA (Decision-making After the Diagnosis of a fetal Abnormality). Prenatal Diagnosis, 19 (1999)
ii Natoli et. al., “Prenatal diagnosis of Down syndrome: a systematic review of termination rates from 1995 – 2011”, Prenatal Diagnosis, 32 (2012)
iii In an interview with the author on October 23, 2013, Sarah Cullen reported 32 pre-natal referrals for fiscal year 2013, compared to 18 for 2011.
iv Egan et. al., “Demographic differences in Down syndrome live births from 1989 to 2006”, Prenatal Diagnosis, 31 (2011)
v McGuire, D., “If People with Down Syndrome Ruled the World”, online link accessed October 20, 2013, https://www.nads.org/pages_new/news/ruletheworld.html
vi The Prenatal Non-Discrimination Act (PREDNA) was signed into law on March 26, 2013, online link accessed October 20, 2013, https://legiscan.com/ND/bill/1305/2013