Treatment Options for Down Syndrome in Adults 1

Treatment Options for Down Syndrome in Adults

Danessa R. Allison

Biochemistry

DuBois Area High School

Treatment Options for Down Syndrome in Adults 2

Outline

I. Introduction

a. Opening

b. History

II. Treatment options

a. Types of Down syndrome

b. Different types of treatments

c. Support groups

III. Chemistry behind down syndrome

a. Conducted studies

b. Brain chemistry

IV. Appendix
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Abstract

This research presented is for the sole purpose of educating readers on down syndrome,

as well as arguing possible treatment options. Even though Down syndrome is a condition that

cannot be reversed; there are options to help with the effects a person experiences with this

syndrome. This paper will discuss what treatments work, and what does not. Information will

also be discussed on the chemistry behind down syndrome along with some studies that have

presented possible brain treatments.

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Treatment Options for Down Syndrome in Adults

Down syndrome according to the Merriam-Webster Dictionary is defined as; “A

congenital condition characterized especially by developmental delays, usually mild to moderate

impairment in cognitive functioning, short stature, upward slanting eyes, a flattened nasal bridge,

broad hands with short fingers, decreased muscle tone, and trisomy of the human chromosome

numbered 21- called trisomy 21” (Merriam-Webster Dictionary). Down syndrome is a disorder

that carries through with the person throughout his or her lifetime. The life expectancy of a

person with this syndrome is about sixty years old averagely. There are no known treatments for

Down syndromes. However, there have been studies conducted to try and discover it. The effects

of the syndrome can be alleviated, but it cannot be treated all together this far in human history.

History

Those with Down syndrome have 47 chromosomes instead of the normal 46. This

syndrome can usually be identified at birth due to their physical features. The disease can be

confirmed by performing a chromosome study called a karyotype. A karyotype gives a visual

picture of chromosomes grouped by their size, shape, and number.

Down syndrome is caused by an error in cell division, also known as nondisjunction.

There is a theory that mothers who have children late in age are more susceptible to birthing

babies with Down syndrome, however, from the National Association for Down Syndrome,

“80% of children with Down syndrome are born to women under 35 years of age.” (“Facts

About Down Syndrome”) This syndrome also does not appear from anything the mother did

during her pregnancy.

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Types of Down Syndrome

The three types of chromosomal patterns that result in Down syndrome are; trisomy 21

(nondisjunction), translocation, and mosaicism. Trisomy 21 is the most common one, resulting in

ninety-five percent of cases occurring from this type. This disease should not be looked at as a

weakness though, many with this syndrome have many talents and gifts. They see the world

different than the “normal” human being and that is something to be celebrated.

Different Types of Treatments

Carriers of Down syndrome are at a heightened risk for many health problems compared

to those who do not have it. Some conditions that can be linked to Down syndrome are; heart

defects, vision problems, hearing loss, infections, hypothyroidism, blood disorders, and

hypotonia. This does not mean that treatments are not beneficial. Some treatments that are

helpful for those with this syndrome are; physical, speech-language, occupational, emotional,

and behavioral therapies. Drugs and supplements are a possibility as well, but they have not

shown to be beneficial. From the National Institute of Child Health and Human Development;

“Some people with Down syndrome take amino acid supplements or drugs that affect their brain

activity. However, many of the recent clinical trials of these treatments were poorly controlled

and revealed adverse effects from these treatments” (“What are common treatments for Down

syndrome?”). This article also states; “There is no single, standard treatment for Down

syndrome. Treatments are based on each individual’s physical and intellectual needs as well as

his or her personal strengths and limitations.” (“What are common treatments for Down

syndrome?”).
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From WebMD; “Treatment for Down syndrome focuses on making sure that your child

has regular medical checkups, helping your child develop, watching for early signs of health

problems, and finding support.” (“Down Syndrome-Treatment Overview”). This is the best way

for a parent or family member to treat their loved one. By doing so, further medical conditions

can be stopped early, allowing them to live a long, healthy life.

Physical therapy is vital for those with Down syndrome. This form of therapy is used to

help facilitate motor skills- from babies to adults. Physical therapy is highly important especially

in babies. Patricia C. Winders, an author on the National Down Syndrome Society website states;

“Because of certain physical characteristics, which include hypotonia (low muscle tone),

ligamentous laxity (looseness of the ligaments that causes increased flexibility in the joints) and

decreased strength, children with Down syndrome don’t develop motor skills in the same way

that the typically-developing child does. They find ways to compensate for the differences in

their physical make-up, and some of the compensations can lead to long-term complications,

such as pain in the feet or the development of an inefficient walking pattern.” (Winders).

Without physical therapy, the child can face long-term effects. It is crucial for either the parent to

learn how to help their child or take them to a specialist.

Support Groups

Support groups (for parents) are highly beneficial for learning how to further care for

their child. These groups provide them with education on the disease and how to care for their

child. The National Down Syndrome Society has 375 locations for support in America. (National

Down Syndrome Society). This also provides the person with Down syndrome to develop

socially and behaviorally.

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Conducted Studies

Scientists today still are not one-hundred percent sure on what causes the symptoms

behind this condition. Sara Gates, an author for Huffpost, writes; “Researchers at the Sanford-

Burnham Medical Research Institute in California suggest that the cognitive and developmental

problems associated with the syndrome are linked to a key brain protein.” (Gates). This theory

was developed by studying mice. One mouse lacked a copy of the “SNX27” gene. This protein

helps neurons to function. Without it, it leads to impaired memory and learning. Gates goes on to

hypothesize that; ““In Down syndrome, we believe lack of SNX27 is at least partly to blame for

developmental and cognitive defects,” Dr. Huaxi Xu, a Sanford-Burnham professor and lead

author of the study, said in a statement.” (Gates).

A cure may not be possible from this study; however, this may be a start to recovering

learning and memory loss for those who suffer it. This has only ever been tested on mice; “He

added, the research is still years away from human testing.” (Gates). Xu also goes on to say that;

““The disease is far more complicated than we can anticipate,” Xu said, “it involves so many

genes, so many pathways.”” (Gates). This is exciting that more is being learned on this condition

every day. By learning more about the chemistry and science behind it, one day it might be

treatable all together.

Brain Chemistry

An article from the Japan Times presented information on a compound that can

normalize brain structure in mice with Down syndrome. Jiji Kyodo writes; “The findings could

lead to the development of drugs to treat Down syndrome in fetuses, they said, adding that it

could also lead to treatment for other cerebral nerve illnesses, including Alzheimer’s and
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Parkinson’s diseases.” (Kyodo). Today, there are no normalizing brain therapies for those with

Down syndrome. However, this may be changing. This compound, named ALGERNON, has

been noted to inhibit the target gene from restricting proliferation of neural stem cells. This

increased the number of neurons to become almost to the level without Down syndrome. During

this study, five pregnant mice with the syndrome were given the compound. This helped to

normalize cerebral formation in embryos and prevented abnormal behavior in offspring.

(Kyodo). This study was conducted to find a compound that can create and regenerate nerve

cells. By doing so, a possible brain treatment may have been discovered for those with Down

syndrome. Even though it has not been conducted on humans yet, this is a start.

Thus far in the history of man, there has not been a known cure-all for Down syndrome.

However, with rapidly increasing knowledge in science and technology, we may be coming

closer to that day. There are therapies available to alleviate the effects of the syndrome, which

can lead to a longer life.

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Appendix

Normal Karyotype of Chromosomes:

I.

a. A regular human cell has 46 chromosomes as seen

b. 44 autosomes that come in pairs

c. Homologous chromosomes (example: number 19)

i. Have all the same genes in the same order from each parent but are different in

DNA sequence.

d. Source:

i. Using Karyotypes to Diagnose Genetic Disorders. (n.d.). Retrieved March 05,

2018, from http://learn.genetics.utah.edu/content/basics/diagnose/

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Down Syndrome Karyotype of Chromosomes:

II.

a. Most typical form of Down syndrome- trisomy 21

b. Extra chromosome on 21

c. Source:

i. O'Neil, Dennis. “8- year old boy with Down Syndrome.” Polarmur, Dinnes

O’Neil, n.d., https://www2.palomar.edu/anthro/abnormal/abnormal_4.htm

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Works Cited

Gates, Sara. “Huffpost.” Brain Protein Linked to Down Syndrome may be Cause of Learning & Memory

Problems. Oath Inc., 26 Mar. 2018. Web. 5 Mar. 2018.

Kyodo , Jiji. “The Japan Times.” Compound normalizes brain structure, function in mice with Down

syndrome, Kyoto researchers say. Japan Times LTD, 5 Sept. 2017. Web. 5 Mar. 2018.

“Merriam Webster.” Down Syndrome. Merriam- Webster, n.d. Web. 5 Mar. 2018.

“NADS.” Facts About Down Syndrome. National Association for Down Syndrome, n.d. Web. 5 Mar. 2018

“NDSS.” Local Support. National Down Syndrome Society, n.d. Web. 5 Mar. 2018.

“NDSS.” Physical Therapy & Down Syndrome. National Down Syndrome Society, n.d. Web. 5 Mar. 2018.

“NIH.” What are common treatments for Down syndrome? NIH, 31 Jan. 2017. Web. 5 Mar. 2018.

“WebMD.” Down Syndrome - Treatment Overview. WebMD, n.d. Web. 5 Mar. 2018.