Down syndrome

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Down syndrome, also known as Trisomy 21, is a genetic disability caused by having an extra copy of the 21st chromosome. It is lifelong and present from conception. Signs of Down syndrome include intellectual disability, unique facial features, and (in the absence of other behavioral disorders) a friendly disposition.

The reality of Down syndrome[edit]

Down syndrome is a developmental disability that impacts many areas of life. From birth, people with Down syndrome tend to have low muscle tone, and they will meet their milestones late. They may learn to speak late, and a few are nonspeaking (instead learning sign language or another form of communication). Intellectual disability is normal, and a person with Down syndrome is likely to need extra help at school, especially with math.[1]

People with Down syndrome have unique physical features. While every person with Down syndrome is unique, and will resemble their parents, they will also experience most or all of the following:[1]

  • Fine hair
  • Round face
  • Almond-shaped eyes
  • Brushfield spots
  • Small nose and mouth
  • Protruding tongue
  • Short neck
  • Short stature
  • Stocky build

They are also much more prone to speech disorders, though these too are not universal. Some are the result of having an undersized mouth and/or oversized tongue, which leads to fairly distinct speech patterns. Common non-physiological impediments include stuttering and cluttering.

Down syndrome can also impact personality. While every individual is different, people with Down syndrome tend to be friendly and have cheerful dispositions.

Support[edit]

People with Down syndrome can benefit from therapies starting early in life. Feeding therapy, occupational therapy, physical therapy, speech therapy, and other treatments can help kids with Down syndrome gain new skills like walking and talking. If the child cannot talk, they can be taught sign language.

Facilitated communication has been presented as an option for nonspeaking people with Down syndrome. However, facilitated communication has been debunked and is widely regarded as pseudoscience. The The American Academy of Pediatrics and the The American Association on Intellectual and Developmental Disabilities are both opposed to the use of facilitated communication, for example.[2]

Cranks and controversies[edit]

Previous name[edit]

Though the underlying cause was not determined until 1959, physician John Langdon DownWikipedia's W.svg accurately described the condition in the late 1800s. Since he ascribed to belief in Blumembach's races, he thought they bore a striking resemblance to the "Mongolian race" and accordingly called his patients "Mongoloid idiots" or "Mongoloid imbeciles". While this sounds terrible in modern English, in its time it had exactly the opposite implication; idiot and imbecile were medical terms, and Down said seeing British babies resembling Asian people caused him to conclude all humans were interrelated. Indeed, he was one of the first to argue for treating them as people.[3][4] By the 1950s, though, the name increasingly fell out of favor, and the World Health Organization dropped it when, in a moment of sanity, the communist government of Mongolia requested they change it.[5]

False cures[edit]

Anyone claiming to "cure" Down syndrome is lying, since you can't exactly take people's chromosomes out of their bodies. But that hasn't stopped peddlers of pseudoscientific remedies like Jilly Juice from suggesting as much.[6]

Abortion debates[edit]

People with Down syndrome have become a lightning rod for the abortion debate. The pro-life side believes in banning abortion of fetuses with Down syndrome, while the pro-choice side believes in keeping abortion legal regardless of disability.

Concerns have been raised over high rates of abortion when it comes to fetuses with Down syndrome.[7] Prospective parents may not be given accurate information about Down syndrome, causing them to feel pressure to terminate the pregnancy.[8]

Claims of suffering[edit]

Some people argue that aborting a fetus with Down syndrome is the humane thing to do. In fact, Richard Dawkins told a woman on Twitter that it would be "immoral" to give birth to a fetus with Down syndrome.[9] While these claims are touted as logical, they don't match up with what people with Down syndrome have to say.

Being Down syndrome is fun. Just be yourself!
—Katie, a woman with Down syndrome, age 19[10]

Adults with Down syndrome describe enjoying their lives, and having fulfilling friendships and sometimes romantic relationships.[11] Research finds that people with Down syndrome overwhelmingly enjoy their lives, feeling satisfied with life and enjoying close familial ties.[12] While the idea that people with Down syndrome are "always happy" is just a stereotype,[13][14] they do tend to enjoy happier-than-average lives.

Parents of children with Down syndrome have also challenged ideas that Down syndrome is tragic, noting that their children enjoy life and that difficult times are a normal part of parenting no matter what.[15][16] In fact, parents whose children have Down syndrome are less likely to divorce.[17]

Unfortunately, people with Down syndrome are at higher risk of certain illnesses, such as respiratory infections, pneumonia, and certain types of cancer. In addition, early-onset dementia is almost universal and often accelerates far faster than normal. While modern medicine is making great strides, these can still impact quality of life and longevity. However, this does not mean that their lives aren't worth living.

References[edit]

  1. 1.0 1.1 Very Well Health: Symptoms of Down Syndrome
  2. ISAAC Position Statement on Facilitated Communication Augmentative and Alternative Communication 30(4):357-358. doi:10.3109/07434618.2014.971492.
  3. Gould, Stephen (2010). The Panda's Thumb: More Reflections in Natural History. W. W. Norton & Company. p. 166. ISBN 9780393340839. Archived from the original on 2017-09-11. https://books.google.com/books?id=z0XY7Rg_lOwC. 
  4. http://www.neonatology.org/classics/down.html
  5. Howard-Jones, Norman (1979). "On the diagnostic term "Down's disease"". Medical History 23 (1): 102–04. PMC 1082401. PMID 153994. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1082401. 
  6. The Possibility of the Protocol Jilly Juice (archived from August 12, 2018).
  7. People with Down syndrome are happy. Why are we trying to eliminate them?
  8. Informed consent or institutionalized eugenics? How the medical profession encourages abortion of fetuses with Down syndrome.
  9. Richard Dawkins: 'immoral' not to abort if foetus has Down's syndrome
  10. Interviewing Katie, a Girl with Down Syndrome
  11. The Atlantic: 'I Am a Man With Down Syndrome and My Life Is Worth Living'
  12. Self-perceptions from People with Down Syndrome
  13. Are People with Down Syndrome Always Happy?
  14. Humans tend to experience moods. People with Down syndrome are human. Thus, people with Down syndrome experience moods.
  15. Down's Syndrome: A Disaster?
  16. Parents: 7 Life Lessons From Raising a Child With Down Syndrome
  17. Parents of Down syndrome children divorce less: study