Parents, self-advocates, teachers, disability professionals, physicians, scientists and public policy experts all bring passion, lived experience, expertise and good will to the field of Down syndrome. That doesn’t mean that everything is settled, or that everyone agrees on all the issues. In fact, the field is riddled with hot topics that can prompt fervent debate and sharp disagreements. Three of these hot topics are explored below.
Prenatal Testing and Abortion
In previous eras, the birth of a baby with Down syndrome was often a surprise to the parents, who might later tell how a doctor or nurse “broke the news” to them. In some countries of the world, this is still the case, and in Canada, this can happen as well, but with widespread prenatal testing, families often embark on the birth process, prepared for the baby they will soon meet.
Non-Invasive Prenatal Testing (NIPT) for Down syndrome was developed by private business concerns in the biotech sector. The advantages of NIPT are that:
Non-Invasive Prenatal Testing (NIPT) for Down syndrome was developed by private business concerns in the biotech sector. The advantages of NIPT are that:
- it is a simple maternal blood test which poses no risk to the pregnancy,
- it can be administered after the 9th or 10th week of pregnancy, and
- it is reliable and widely available for women who meet the testing criteria, although availability varies from province to province.
With regards to Down syndrome, some people believe that prenatal testing gives families peace of mind, while others believe that prenatal testing introduces deep complexity to Down syndrome pregnancy and birth. The issues and questions associated with prenatal testing are raised in Chris Kaposy’s book Choosing Down Syndrome: Ethics and New Prenatal Testing Technologies, [1] and what follows is a brief sample:
- Is it possible to discuss NIPT and potential Down syndrome pregnancy termination without reference to the pro-life/pro-choice debate? Can an open discussion occur without divisive or antagonistic arguments? Where is the balance between discussing the ethics of prenatal testing and pregnancy termination and respecting every family’s ultimate choice?
- Is NIPT presented as a routine or obligatory procedure? Do some families go through with it because they feel obliged or that it would be neglectful not to accept it? Are biotech companies lobbying in different provincial jurisdictions for the expansion of the use of NIPT?
- Do prospective mothers and fathers choose NIPT because they have a bias against people with cognitive disabilities? If so, is that bias acceptable? If testing for sex selection is widely regarded as unacceptable, how is testing for Down syndrome different?
- Who is advising parents who learn that theirs is a Down syndrome pregnancy? Are genetic counsellors and doctors educated about any factors beyond the medical ones, in these cases?
- Should parents have greater access to evidence that people with Down syndrome widely report that they value and enjoy their lives, and that families that include a person with Down syndrome function as happily as those that don’t? Would such evidence be important to their decision making?
The Canadian rate of pregnancy termination when Down syndrome is detected by NIPT is currently unclear, but it may be significant that the rate of Down syndrome births is not increasing, even though significantly more women are having their children later in life, when the correlation with Down syndrome is higher. [2] It is also important to note that the proportions of Down syndrome births differ from province to province, in loose association with cultural choices and the availability of NIPT. [3] No one can or should dictate to families how they must respond to the prospect of having a child with Down syndrome, but the issue is important enough to consider deeper thought about NIPT.
Vitamin and Other Unconventional Therapies
Any parent who reports that they arranged speech and language, physical, occupational or music therapy for their child with Down syndrome likely encounters expressions of mild interest from their friends in the Down syndrome community, who are well aware of these treatments. Unconventional or little-known therapies for Down syndrome, though, tend to elicit a broader range of reactions, from interest to scorn and doubt. Some parents are willing to experiment with untraditional means to improve their child’s life chances, and their hopefulness and commitment are heartening. Knowing a bit about past therapeutic attempts may help families decide how to react to new therapeutic proposals.
1977 – Plastic Surgery
What? German doctors experimented with altering the facial features of young children in single, extended operations or multi-part surgeries.
Why? They believed that the surgery might give better function and lead to improved social acceptance of children with Down syndrome.
Results? In experimental settings, people either didn’t see any improvement after surgery, or preferred the pre-surgery faces.
Why? They believed that the surgery might give better function and lead to improved social acceptance of children with Down syndrome.
Results? In experimental settings, people either didn’t see any improvement after surgery, or preferred the pre-surgery faces.
1970s – 1980s – Sicca Cell Therapy
What? German and Russian doctors injected sicca cells into the brains of toddlers.
Why? Freeze-dried brain tissue from certain animal fetuses was expected to replace, repair and stimulate the growth of brain cells in children with Down syndrome.
Results? Scientists from other countries could detect no difference between children who had, or didn’t have, this type of intervention.
Why? Freeze-dried brain tissue from certain animal fetuses was expected to replace, repair and stimulate the growth of brain cells in children with Down syndrome.
Results? Scientists from other countries could detect no difference between children who had, or didn’t have, this type of intervention.
Neurotransmitter Precursors
What? American researchers administered supplements of 5-hydroxytryptophan to a group of children with Down syndrome.
Why? They theorized that the low levels of serotonin in children with Down syndrome may have been contributing to their poor muscle tone, which might be improved by regular doses of 5-HTP.
Results? A follow up study yielded no evidence of difference in muscle tone or developmental levels between the group of children who got the neurotransmitter precursors, and those who received the placebo.
Why? They theorized that the low levels of serotonin in children with Down syndrome may have been contributing to their poor muscle tone, which might be improved by regular doses of 5-HTP.
Results? A follow up study yielded no evidence of difference in muscle tone or developmental levels between the group of children who got the neurotransmitter precursors, and those who received the placebo.
Free Radical Inhibitors / Antioxidants
What? Antioxidants were administered orally to children to see if it was possible to lessen the damage caused to the central nervous system of people with Down syndrome by the free radicals they naturally produce.
Why? Antioxidants block the effects of free radicals and thereby may slow the progress of degenerative diseases.
Results? The developmental trajectories of children who took the antioxidants were unaffected.
Why? Antioxidants block the effects of free radicals and thereby may slow the progress of degenerative diseases.
Results? The developmental trajectories of children who took the antioxidants were unaffected.
Cognition-Enhancing Drugs (Nootropics)
What? Children were given daily doses of piracetam, which was first prescribed for motion sickness, but seemed to also have a positive effect on memory.
Why? Memory is part of cognition and an improvement in memory could lead to greater academic success.
Results? This intervention was not thoroughly studied, but even anecdotal reports which reported initial improvements noted that these disappeared as soon as the medication was discontinued.
Why? Memory is part of cognition and an improvement in memory could lead to greater academic success.
Results? This intervention was not thoroughly studied, but even anecdotal reports which reported initial improvements noted that these disappeared as soon as the medication was discontinued.
Vitamins and Nutritional Supplements
What? Children were given doses of vitamins and minerals to correct what was characterized as their “deficiencies” in essential metabolic elements, which were causing “metabolic disorders”.
Why? In the 1940’s an American doctor posited that people with Down syndrome had cognition and other challenges because they were low in many key vitamins and minerals. He developed the “U-series” of supplements, versions of which were used in programs around the world, from the 50s to the 80s. In 1995, an American mother of a child with Down syndrome appeared on a network television show, talking about the miraculous benefits her daughter was experiencing from a mixture the mother had personally developed, which was largely U-series elements, plus piracetam. This reawakened interest in vitamins and nutritional supplements.
Results? Anecdotal reports were often very positive, although some observers noted that parents administering the vitamins were pointing to achievements by their child that were commonplace for other children with Down syndrome. Studies which reported positive results were later discovered to be flawed. No evidence of improvement in cognition was ever found in the research.
Why? In the 1940’s an American doctor posited that people with Down syndrome had cognition and other challenges because they were low in many key vitamins and minerals. He developed the “U-series” of supplements, versions of which were used in programs around the world, from the 50s to the 80s. In 1995, an American mother of a child with Down syndrome appeared on a network television show, talking about the miraculous benefits her daughter was experiencing from a mixture the mother had personally developed, which was largely U-series elements, plus piracetam. This reawakened interest in vitamins and nutritional supplements.
Results? Anecdotal reports were often very positive, although some observers noted that parents administering the vitamins were pointing to achievements by their child that were commonplace for other children with Down syndrome. Studies which reported positive results were later discovered to be flawed. No evidence of improvement in cognition was ever found in the research.
Parents often consult their primary physician to obtain referrals to, or discuss the programs of Speech Language Pathologists, Physiotherapists, Occupational Therapists and others. When they want to pursue alternative therapies, however, parents often venture off alone. If these unconventional therapies are inordinately expensive or harmful, parents may be making grave or wasteful mistakes. The above list of therapies has been provided here to indicate which ideas attracted parental and scientific interest in the past but have since been discredited.
Two promising prospective therapies are briefly discussed below.
Two promising prospective therapies are briefly discussed below.
Promising Therapeutic Possibility #1
Now that the human genome has been mapped, scientists know much more about the extra genetic material in the cells of people with Down syndrome. It has become apparent that the people with Down syndrome live with excessive proteins which are manufactured in response to the extra chromosome, and that therapeutic initiatives which aim to block the creation or expression of these proteins may yield important results.
Promising Therapeutic Possibility #2
Scientists are working hard to develop drug therapies to counter the effects of Alzheimer’s dementia. People with Down syndrome will likely benefit from advanced understanding and treatment of Alzheimer’s. [4]
Inclusion/ Specialization
The debate about “what is better for people with Down syndrome: inclusion or specialization?” never seems to be resolved, and the power of this important question to spark a lively discussion is undiminished, making it a consistently hot topic in Down syndrome.
There has been a strong tendency toward shutting down specialized services for people with Down syndrome. In Canada, residential institutions for people with intellectual disabilities, including Down syndrome, were closed in the 1990’s and 2000’s and residential options in the community have been identified for former residents. There are calls to close specialized “sheltered workshops”, which exclusively employ people with intellectual disabilities including Down syndrome, and make better attempts to find jobs for people with Down syndrome and other intellectual disabilities in regular settings, such as Starbucks and GoodLife Fitness.
But people with Down syndrome have long been offered exclusive specialized opportunities for them alone, such as soccer leagues, art classes and summer camps, and many of these continue to exist and thrive. It seems we can’t quite decide how we feel about inclusion versus specialization, or that a blend of approaches is best. Two recent controversies show the difficulty of resolving this thorny issue.
There has been a strong tendency toward shutting down specialized services for people with Down syndrome. In Canada, residential institutions for people with intellectual disabilities, including Down syndrome, were closed in the 1990’s and 2000’s and residential options in the community have been identified for former residents. There are calls to close specialized “sheltered workshops”, which exclusively employ people with intellectual disabilities including Down syndrome, and make better attempts to find jobs for people with Down syndrome and other intellectual disabilities in regular settings, such as Starbucks and GoodLife Fitness.
But people with Down syndrome have long been offered exclusive specialized opportunities for them alone, such as soccer leagues, art classes and summer camps, and many of these continue to exist and thrive. It seems we can’t quite decide how we feel about inclusion versus specialization, or that a blend of approaches is best. Two recent controversies show the difficulty of resolving this thorny issue.
- There have been critiques of Special Olympics, the organization that provides sports and competitive opportunities exclusively for people with intellectual disabilities. It is not possible to do justice to all the arguments for eliminating this long-standing specialized program, but Special Olympics’ detractors say that the organization unnecessarily shelters people with intellectual disabilities who could find comparable athletic opportunities in the larger community, perpetuates negative stereotypes about their inability to function in community gyms and sports leagues, and allows their athletes to be featured in media portrayals that understate their capabilities. For critics who strongly believe that inclusion is the answer, even a legendary organization such as Special Olympics is not exempt from criticism.
- Elementary and secondary school systems across Canada are sites of debate on the virtues of educational inclusion versus specialization. In some provinces, there is no alternative to a mainstream class placement, while in other provinces, parents can choose between inclusive and congregated settings and systems, and often rethink their choices and move their children as they encounter difficulties with one option. The difficulty of delivering on the promise of inclusive education is occasionally acknowledged in many provinces, with the open admission that it is particularly difficult for students with intellectual disabilities such as Down syndrome, to thrive and experience a feeling of belonging in many regular classrooms. [5]
It is evident that the hot topic of inclusion versus specialization has not been resolved, and in fact, it continues to have greater complexity than might have been anticipated in more optimistic times. A recent study of inclusion in Alberta concluded with many recommendations, one of which called for all parties to: “Work directly with stakeholders to build an understanding of inclusion and an understanding that an inclusive classroom setting may not be in the educational best interests of every student at all times.” [6] When a study on inclusion calls on educators to build an understanding of inclusion, we know this particular hot topic is not yet resolved.
[1] Kaposy, C. (2018). Choosing Down syndrome : ethics and new prenatal testing technologies. Cambridge, Massachusetts: The MIT Press.
[2] https://www.canada.ca/en/public-health/services/publications/healthy-living/down-syndrome-surveillance-2005-2013.html
[3] https://www.canada.ca/en/public-health/services/publications/healthy-living/down-syndrome-surveillance-2005-2013.html
[4] The material in the section on Vitamin and Other Unconventional Therapies owes much to this excellent article:Cooley, W.C. (2002). Nonconventional Therapies for Down Syndrome: A Review and Framework for Decision Making. In Down Syndrome (eds W.I. Cohen, L. Nadel and M.E. Madnick). https://doi-org.proxy1.lib.uwo.ca/10.1002/ 0471227579.ch19
[5] The State of Inclusion in Alberta Schools. Alberta Teachers’ Association. 2015
[6] Ibid.
