Anna Baumann

Bradley Hyman
HNPG_015_005
Dec 3, 2015

The Genetics and Stigma Associated with Learning Disabilities

Introduction:

This paper will investigate the stigmas of dyslexia, as well as the genetic causes of it.

Dyslexia is a broad term encompassing a learning disability that impairs

fluency/comprehension accuracy in being able to read and manifests itself as a difficulty

with phonological awareness, phonological decoding, orthographic coding, auditory short-

term memory, and/or rapid naming.1 It is due to some neurological dysfunction.2 In 1877,

German neurologist Adolf Kussmaul coined the term word blindness to describe text

blindness although sight, speech, and intellect are intact. In 1887, German physician Rudolf

Berlin uses the term dyslexia to improve the definition. It became a common term in the

1930s.3 Even though this condition has been diagnosed for over 100 years, some still

believe that dyslexia is not a real condition or are simply ignorant of its existence.4 Some

also believe that dyslexia has become accepted in society to the point where there is no

negative stigma associated with it anymore and that it is caused by more environmental

factors than genetic ones. If environmental factors, such as family tensions, are the cause of

learning difficulties, it is not truly dyslexia and these individuals are poor readers only until

1 Dyslexia, Crystalinks, http://www.crystalinks.com/dyslexia.html.

2 Arthur L. Benton and David Pearl, Dyslexia: An Appraisal of Current Knowledge (New York:
Oxford University Press, 1978), 63.
3 Amanda Morin, A Timeline of Learning and Attention Issues, Understood, 2014,

https://www.understood.org/en/learning-attention-issues/getting-started/what-you-need-to-
know/a-timeline-of-learning-and-attention-issues.
4 Robin Williams Adams, Dyslexia still a Stigma for Many, Expert Says, The Ledger, 2008,
http://www.theledger.com/article/20080328/NEWS/527509844?p=3&tc=pg.
their stressful situation is resolved.5 In truth, dyslexia is a condition that is caused by many

genetic and heritable links, and is, very much, a real condition that is associated with a

negative stigma.

The Biological Basis of Dyslexia:

Even as far back as the 1950s, before any genetic evidence was known, twin and

family studies proved heritability in dyslexia. In his 1950s Mendelin analysis, Hallgren

studied 112 families with dyslexic children, from a middle school (22 cases) and Karolinska

Institute, a medical center, (77 cases) in Stockholm. Hallgren based his study on the work of

Gregor Mendel, who studied the heritability of the physical characteristics of peas in the

1890s.6 Hallgren found that at least one parent had dyslexia in 80% of cases, both parents

had dyslexia in 3% of the cases, and no parent had dyslexia in only 17% of the cases.7 In

1959, Hermann did a twin study involving 12 monozygotic twins and 33 dizygotic twins.

He found that 100% of the monozygotic twins both had dyslexia, and that there was a 33%

correlation of dizygotic twins.8 These studies show that dyslexia is inherited and runs in

families.

Brain scans also prove that dyslexia has genetic linkages. The brain scans of dyslexic

children look different when they are trying to read from those of average children.

However, when a dyslexic child is taught with phonological treatments, their brain scans

5 Arthur L. Benton and David Pearl, Dyslexia: An Appraisal of Current Knowledge (New York:
Oxford University Press, 1978), 64-66.
6 Dennis ONeil, Mendels Genetics, 2013,

http://anthro.palomar.edu/mendel/mendel_1.htm.
7 Arthur L. Benton and David Pearl, Dyslexia: An Appraisal of Current Knowledge (New York:

Oxford University Press, 1978), 269-272.

8 Herman K. Goldberg, Gilbert B. Shiffman, and Michael Bender, Dyslexia: Interdisciplinary

Approaches to Reading Disabilities (New York: Grune & Stratton, Inc., 1983), 121-123.
even out and look the same as anyone elses.9 Proton Emission Topography (PET) is a

technique whereby brain activity is monitored online. It measures an increase in metabolic

activity of neurons by measuring the dilation of blood vessels. Blood flow increases to parts

of the brain where activity occurs through cerebral blood flow, oxygen, and glucose

metabolism. This is measured by using a radioactive tracer, usually xenon-133. In 1992,

Rumsey conducted a study of 14 dyslexic men, which showed reduced activity in the left

temporal-parietal region when asked to perform a task involving rhyming.10 The left side of

the brain is associated with critical thinking, logic, language, and letters.11 Also in 1992,

scientists such as Katz and Flowers, among others, showed increased activation in the right

side of the brain in 10 dyslexic adults in response to different syllables.12 The right side of

the brain is associated with nonverbal information, drawing, music, creativity, and voice

recognition.13 fMRI is a similar technique to PET, which involves an analyses of several MRI

scans which are layered on top of each other. Magnetic resonance imaging uses radio

waves that measure blood flow to get a detailed image of the brain. In 1998, Shaywitz

compared 29 dyslexics with 32 non-impaired people and found that dyslexics had less of an

increase in the posterior brain regions; but observed an increased activation in dyslexics in

the frontal regions, such as Brocas area, which is linked to speech and language

production. The Cerebellum, in the front of the brain, does not just participate in motor

9 Debunking the Myths about Dyslexia, Dyslexia Help, 2015,

http://dyslexiahelp.umich.edu/parents/learn-about-dyslexia/what-is-dyslexia/debunking-
common-myths-about-dyslexia.
10 Alan A. Beaton, Dyslexia, Reading, and the Brain: A Sourcebook of Psychological and
Biological Research (Hove and New York: Psychology Press, 2004), 207-209.
11 Dyslexia, Crystalinks, http://www.crystalinks.com/dyslexia.html.
12 Alan A. Beaton, Dyslexia, Reading, and the Brain: A Sourcebook of Psychological and

Biological Research (Hove and New York: Psychology Press, 2004), 207-209.
13 Dyslexia, Crystalinks, http://www.crystalinks.com/dyslexia.html.
functions but language and speech as well. Injuries in this area result in impairments so it

makes sense that dyslexics show less activity in this area.14

Finally, many genes have been associated with causing dyslexia. In 2005, Yale doctor

Gruen discovered the DCDC2 gene. This gene encodes microtubules, which build proteins

and signal the brain. A haplotype, a combination of variant forms of genes (alleles) found in

the genome, block within DCDC2 causes poor performance on composite language

measures. The GCGAG and GACGAG haplotypes in DCDC2 occur more frequently in

individuals with dyslexia. READ1 (also known as BV677278) is the gene regulator

associated with dyslexia. Transcription factors that code for proteins, such as ETV6, bind to

READ1 to turn the dyslexia genes on or off, causing them to build the faulty proteins.15

Another gene called KIAA0319, which was discovered by Yale in 2013, is also associated

with dyslexia. It is turned on during early childhood development of the cerebral cortex

(which controls visual skills and thought processing). The expression, or product, of this

gene is reduced by 40% in dyslexics, which hinders the development of the cerebral

cortex.16 READ1 and this gene cause a multiplier effect that causes reading, language, and

even IQ problems.17 The DCDC2 gene was analysed using children of northern European

descent with a sample size of 5600 students at the language measures stage. It was a

14 Alan A. Beaton, Dyslexia, Reading, and the Brain: A Sourcebook of Psychological and
Biological Research (Hove and New York: Psychology Press, 2004), 213-215.
15 Natalie R. Powers, John D. Eicher, Flak Butter, Yong Kong, Laura L. Miller, Susan M. Ring,

Matthias Mann, and Jeffrey R. Gruen, Alleles of a Polymorphic ETV Binding Site in DCDC2
Confer risk of Reading and Language Impairment, Science Direct, 2013,
http://www.sciencedirect.com/science/article/pii/S0002929713002218.
16 Genetics of Dyslexia, Dyslexia Research Trust,
http://www.dyslexic.org.uk/research/genetics-dyslexia.
17Karen N. Peart, Yale Researchers unravel Genetics of Dyslexia and Language
Impairment, Yale News, 2013, http://news.yale.edu/2013/06/12/yale-researchers-
unravel-genetics-dyslexia-and-language-impairment.
longitudinal study that followed children since birth.18 The KIAA0319 gene was analysed

using 400 families with at least one dyslexic child in the Oxford quantitative trait linkage

study.19

How access to the Human Genome can facilitate Treatment:

The human genome was closely analysed to come up with these genetic links to

dyslexia. Scientists hope that, in the future, when analysing the genome will be quicker and

less expensive, they can determine which children have dyslexia before symptoms arise.20

The treatment of dyslexia involves extensive phonological training. It also involves

breaking down and rearranging sounds to produce different words. 21 This treatment is

most effective when it is implemented early on in development-at four or five years old.

This is when the mind is expanding rapidly and will absorb new information and change

most easily. Treating dyslexia early on will also reduce stigma because the child will be able

to have a normal school experience after treatment. Being able to detect dyslexia in a child

soon after birth will make it easier for specialists to treat children early on, for parents to

become educated and help their children, and will eliminate misdiagnoses and stop the

perpetuation of myths.

The Stigma of Dyslexia and how this presents a problem to Society:

18Natalie R. Powers, John D. Eicher, Flak Butter, Yong Kong, Laura L. Miller, Susan M. Ring,
Matthias Mann, And Jeffrey R. Gruen, Alleles of a Polymorphic ETV Binding Site in DCDC2
Confer risk of Reading and Language Impairment, Science Direct, 2013,
http://www.sciencedirect.com/science/article/pii/S0002929713002218.
19 Genetics of Dyslexia, Dyslexia Research Trust,
http://www.dyslexic.org.uk/research/genetics-dyslexia.
20 Karen N. Peart, Yale Researchers unravel Genetics of Dyslexia and Language
Impairment, Yale News, 2013, http://news.yale.edu/2013/06/12/yale-researchers-
unravel-genetics-dyslexia-and-language-impairment.
21 Dyslexia, Crystalinks, http://www.crystalinks.com/dyslexia.html.
 Dyslexia represents a problem to society because of its negative stigma. The

symptoms of dyslexia drive the negative stigma associated with it. When a child with

dyslexia starts school, problems will soon arise. The child will, mostly likely, fall behind in

all of his/her classes and have trouble performing even simple reading tasks without

assistance from the teacher. They will justify this by saying it is simply boring and that

they dont like to read.22 This will soon cause labels such as lazy and stupid to be used

against the child. Up to 20% of Americans have a diagnosed learning disability; with 30-

50% of the population possibly suffering from undiagnosed learning disabilities and 5% of

school children suffering from it. 23This means that 35 million Americans have dyslexia.24

Even though the concept of dyslexia has been around for over a century, some teachers still

dont know what it is. Sally Shaywitz, a pediatrician at Yale University, states that some still

ignore dyslexia; which leads to misdiagnoses and conditions such as anxiety and

depression.25 In a study done Kelsey Lisle of Bucknell University, 200 people (137 women

and 63 men aged 18-75) completed surveys and responded to prompts about people with

Learning Disabilities and people without them. Those with learning disabilities, regardless

of gender, were voted less attractive, less successful in life, less emotionally stable, and

22 Robin Williams Adams, Dyslexia still a Stigma for Many, Expert Says, The Ledger, 2008,
http://www.theledger.com/article/20080328/NEWS/527509844?p=3&tc=pg.
23 Debunking the Myths about Dyslexia, Dyslexia Help, 2015,
http://dyslexiahelp.umich.edu/parents/learn-about-dyslexia/what-is-dyslexia/debunking-
common-myths-about-dyslexia.
24 Taking the Stigma out of Dyslexia, Levinson: Dyslexia Online, 2013,

http://www.dyslexiaonline.com/articles/Taking-the-Stigma-Out-of-Dyslexia.html.
25 Robin Williams Adams, Dyslexia still a Stigma for Many, Expert Says, The Ledger, 2008,
http://www.theledger.com/article/20080328/NEWS/527509844?p=3&tc=pg.
more open to new experiences.26 These stigmas are debilitating to those suffering from

these disabilities. Teachers reportedly treated 80% of students with learning disabilities

differently; giving them lower grades no matter what their IQ or work, felling sorry for

them, believing they are harder to teach, an thinking they are less intelligent, lazy and not

trying hard enough.

This stigma is due to a variety of factors. A lack of knowledge of the disease can

spread ignorance and myths. The invisibility of dyslexia compared to physical impairments,

makes people believe that dyslexia is not real and that students simply need to try harder.

A self-fulfilling prophecy is the idea that, if you make someone believe something by telling

them often enough, they will start to believe it themselves. This can lead to students with

dyslexia underperforming because of the stigma that they are less intelligent. 25% of

students with dyslexia drop out of high school and less than 2% attend a year college.27 A

confirmation bias, unconscious or not, makes people have the tendency to interpret

information in a matter consistent with their previous beliefs. Out-group homogeneity

makes people believe that those with learning disabilities possess less desirable traits and

that society would be better off without them. Lastly, abelism is the prejudice towards

people with disabilities.28 All these conditions cause stigmas. These stigmas, in turn, can

cause children to get frustrated with themselves. They may be teased for being stupid or

dumb. They may also act out in class out of frustration in order to demand the help they

need. As adults, this may lead to workplace discrimination and a lower job image - making

26 Kelsey Lisle, Identifying the Negative Stigma Associated with Having a Learning
Disability, Bucknell University: Bucknell Digital Commons, 2011,
http://digitalcommons.bucknell.edu/cgi/viewcontent.cgi?article=1021&context=honors_t
heses.
27 Ibid.
28 Ibid.
people to believe that dyslexics can only handle menial positions that do not require a

higher level of intelligence or education.

Action Plan:

The key to eliminating the negative stigmas associated with dyslexia is education.

An action plan to get the world educated about dyslexia needs to be developed. The

question is how to get the massive population of the United States educated on this issue.

This mass education needs to begin in the school system. Spokespeople for dyslexia need to

be trained to go around to schools and educate children aged 4-18 in the school system

about dyslexia. This will clarify myths like believing all dyslexics have low IQs.29 These

speakers can also talk about success stories of dyslexics; both of famous people such as

Pablo Picasso, Tom Cruise, Albert Einstein, Cher, Channing Tatum, Richard Branson, and

Steven Spielberg but also of everyday folk who grew up to be doctors or lawyers.30 Talking

about these individuals will motivate dyslexic children and show them that their disability

does not have to limit their success. Mentioning such people to not dyslexic people can also

convince them that dyslexics are not inherently dumb or incapable. Seminars specifically

for teachers should be held as well. A 4-week course or something like this will educate

teachers on how to include and properly teach dyslexics. This will reduce the staggering

statistic mentioned earlier, of teachers treating 80% of students with LDs differently.31

29 Debunking the Myths about Dyslexia, Dyslexia Help, 2015,

http://dyslexiahelp.umich.edu/parents/learn-about-dyslexia/what-is-dyslexia/debunking-
common-myths-about-dyslexia.
30 Famous Dyslexics Means That you are not alone and you can succeed, Levinson:
Dyslexia Online, http://www.dyslexiaonline.com/basics/famous_dyslexics.html.
31 Kelsey Lisle, Identifying the Negative Stigma Associated with Having a Learning

Disability, Bucknell University: Bucknell Digital Commons, 2011,

http://digitalcommons.bucknell.edu/cgi/viewcontent.cgi?article=1021&context=honors_t
heses.
Motivation speakers who speak to children suffering from learning disabilities will increase

the confidence of those with dyslexia and decrease their anxiety and depression. Programs

to bring dyslexics together for support will also be helpful. Lecturers and speakers who

have gone through the struggle of dyslexia might be especially motivational and helpful.

Parents should also participate in these seminars and lectures in order to learn how to help

their children be successful in school and beyond. Motivating parents is also important

because they, in turn, can then motivate and encourage their kids to try as hard as they

need to, to learn how to read. Education can reduce, if not eliminate, the negative stigmas

associated with dyslexia. Eliminating the stigma against dyslexia is very important. In truth,

while dyslexic children do have to work harder to learn how to read, they are not less

intelligent than others. It has also been shown that trained dyslexics develop uncannily

efficient visual memories, which aid in reading and comprehending large quantities of

information much faster than is typical.32 Stigma does no one any good, so eliminating it

will result in a more peaceful, kinder school/life environment for everyone.

Conclusion:

Dyslexia is caused by a variety of genetic factors and is still associated with a

negative stigma today. The DCDC2 and KIAA0319 genes are associated with causing

dyslexia. Teachers, as well as students, still believe dyslexic children to be less intelligent,

less successful, less attractive, lazier, less emotionally stable, and more open to new

experiences. The genetic research will help facilitate treatment of dyslexia and early

detection will help children live normal lives. The negative stigma associated with dyslexia

needs to be addressed through education and examples of successful dyslexics. If we

32 Dyslexia, Crystalinks, http://www.crystalinks.com/dyslexia.html.

educate the population and reduce stigma, dyslexic children can grow up to be as

successful as anyone else.

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