Running head: HUNTINGTON DISEASE HUNTINGTON DISEASE Pamphlet: Huntington Disease Outline Tania Amador •   Introduction paragraph describing HD and the importance of the pamphlet Huntington disease is a genetic disorder inherited from parents. Children of parents of a genetic disorder have a 50% chance of inheriting this disease. Patients of this disease live from 10 to 30 years but not beyond. Complications with this disease lead to difficulties in eating and social isolation. The importance of this pamphlet is to highlight the comprehensive medical information about Huntington disease. •   Body of the pamphlet Signs, (What Dr. can see) -Uncontrolled movement- chorea - Deteriorating cognitive functions -Bruxism -Uncontrolled continued muscular contraction -Irritability Symptoms (what patient feels) -Movement disorder -Involuntary Jerking -Cognitive disorders -Social withdrawal and feeling of irritability, sadness or apathy - Frequent thought of dying Effects of the disease on healthy body functions -Fatigue and loss of energy -Depression appears -Rigid and contracted muscle that affect gait -Loss of previously learned academic or physical skills -Inflated self-esteem What are risk factors? -Having a parent of Huntington disease -Genetic mutation in gene IT-15 What are some if any/preventive steps? - Genetic testing and family planning options Quality of life -Poor quality of life because of difficulties of coordinating things -Disease progression deteriorates quality of life. -Difficulties associating with other people in society creates loneliness How is it diagnosed? -Neuropsychological testing -Psychiatric evaluation -Brain imaging and function -Genetic counseling and testing -Predictive genetic test Therapeutic tools -Therapeutic tools seek to reduce symptoms and prevent complications -Participate in social activities -Daily exercise -Use of various medications to help control emotional movement problem Expected outcome -Reduce symptoms -Prevent complications -Assist in managing the condition Prognosis -Huntington’s disease prognosis runs for 10-30 years of age. Earlier in life symptoms progresses the disease. Ways to prevent HD -Consider alternative ways of having children if the offspring is likely to develop HD -Invitro fertilization and preimplantation genetic diagnosis Ways to Treat HD -Use of Antipsychotics -Antidepressants -Tranquilizers -Mood-stabilizers Any possible or cutting edge cure/research/treatment -Cutting edge technology for HD is invitro fertilization and genetic testing for the mutation prior to implanting them in the mother.  Conclusion – Key Point to hit on -Use of invitro fertilization to prevent the disease if any parent is risk factor -Self-destructive behaviors during the disease progression -Ways in which parents of Huntington disease patients can get assistance -Knowing when its time to seek assistance References Genetic’s Home Referen.

1. Running head: HUNTINGTON DISEASE
HUNTINGTON DISEASE
Pamphlet: Huntington Disease Outline
Tania Amador

2. • Introduction paragraph describing HD and the importance of
the pamphlet
Huntington disease is a genetic disorder inherited from parents.
Children of parents of a genetic disorder have a 50% chance of
inheriting this disease. Patients of this disease live from 10 to
30 years but not beyond. Complications with this disease lead to
difficulties in eating and social isolation. The importance of this
pamphlet is to highlight the comprehensive medical information
about Huntington disease.
• Body of the pamphlet
Signs, (What Dr. can see)
-Uncontrolled movement- chorea
- Deteriorating cognitive functions
-Bruxism
-Uncontrolled continued muscular contraction
-Irritability
Symptoms (what patient feels)
-Movement disorder
-Involuntary Jerking
-Cognitive disorders
-Social withdrawal and feeling of irritability, sadness or apathy

3. - Frequent thought of dying
Effects of the disease on healthy body functions
-Fatigue and loss of energy
-Depression appears
-Rigid and contracted muscle that affect gait
-Loss of previously learned academic or physical skills
-Inflated self-esteem
What are risk factors?
-Having a parent of Huntington disease
-Genetic mutation in gene IT-15
What are some if any/preventive steps?
- Genetic testing and family planning options
Quality of life
-Poor quality of life because of difficulties of coordinating
things
-Disease progression deteriorates quality of life.
-Difficulties associating with other people in society creates
loneliness
How is it diagnosed?
-Neuropsychological testing
-Psychiatric evaluation
-Brain imaging and function
-Genetic counseling and testing
-Predictive genetic test
Therapeutic tools
-Therapeutic tools seek to reduce symptoms and prevent
complications
-Participate in social activities
-Daily exercise
-Use of various medications to help control emotional
movement problem

4. Expected outcome
-Reduce symptoms
-Prevent complications
-Assist in managing the condition
Prognosis
-Huntington’s disease prognosis runs for 10-30 years of age.
Earlier in life symptoms progresses the disease.
Ways to prevent HD
-Consider alternative ways of having children if the offspring
is likely to develop HD
-Invitro fertilization and preimplantation genetic diagnosis
Ways to Treat HD
-Use of Antipsychotics
-Antidepressants
-Tranquilizers
-Mood-stabilizers
Any possible or cutting edge cure/research/treatment
-Cutting edge technology for HD is invitro fertilization and
genetic testing for the mutation prior to implanting them in the
mother.
Conclusion – Key Point to hit on
-Use of invitro fertilization to prevent the disease if any parent
is risk factor
-Self-destructive behaviors during the disease progression
-Ways in which parents of Huntington disease patients can get
assistance
-Knowing when its time to seek assistance

5. References
Genetic’s Home Reference. ( 23 March, 2015). Huntington’s
Disease. Your Guide to
Understanding
Genetic Conditions. Retrieved from
www.ghr.nlm.nih.gov/condition/huntington-disease
Huntington’s Disease of America. (2015). Living with HD.
Retrieved from hdsq.org/living-with
huntingsons/family-care/stages-of-hd.html
Meiser B and Dunn, S. (2000). Psychological impact of genetic
testing for Huntington’s disease:
an update of the literature. J. Neurol Neurosurgy
Psychiatry. 69(2000): 574-578
Paulsen, J. S., Hoth, K. F., Nehl, C. Stierman, L. (2005).
Critical Periods of Suicide Risk in
Huntington’s disease. The American Journal of Psychiatry.
162(4): 725-732
Spires, T. L., Grote, H.E.. Varshney, K., Cordery, P. M. and
Dellen, A., Blakemore, C. and
Hannan, A.J. (2004). Environmental Enrichment Rescues
Protein Deficits in a Mouse
Model of Huntington’s Disease, Indicating a Possible Disease
Mechanism. The Journal of
Neuroscience. 24(9): 2270-2276
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6. Applicant Name / IRB Protocol Number
___________________________________________
The Application
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Selected appropriate level of review (exempt = archival;
expedited = minimal risk w/ general population; full = at risk
population or more than minimal risk)
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Included principal Investigator and Faculty Research
Supervisor’s names and contact information
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Provided a proposed start date for the project
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Explained purpose of the study & purpose seems reasonable
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Offered a brief but detailed summary of the project, including
methodology
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Proposed protocol’s time required, compensation provided and
activities seem appropriate
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Described participant demographics (Anticipated sample size &

7. if members of special groups --institutionalized, protected, age,
health status, etc.)
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Indicated that deception will or will not be used in the study
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Indicated that audio or videotapes will or will not be used in
the study
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Described the precautions that will be taken to insure the
confidentiality, privacy or anonymity (cannot be both
confidential and anonymous at the same time) of the
participants
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Described procedures where confidentiality may be broken by
law (e.g., child abuse, suicidal intent).
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Described where the research will take place
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Provided a full example of the proposed Informed Consent and
Assent (Attach copies of all relevant forms) or describes
alternative methods where consent is not appropriate
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Described any possible physical, psychological, social, legal,
economic or other risks to participants
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8. Described procedures implemented for correcting harm
potentially caused by participating in the study
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Explained the potential benefits of the study (to participant and
to professional audience)
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Noted any areas that may provide a conflict of interest or
promote a coercive atmosphere
The Consent Form (information provided must match the claims
in the application)
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Consent is written at an appropriate level for the proposed
participant pool (generally 8th grade level)
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If non-English speakers are part of the participant pool, consent
is in their native language
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Participant is told clearly why he or she was selected
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Participant is given a clear estimate of the number of expected
participants
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Participant is given a clear explanation of why the research is
being done
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The principal investigator clearly notes that the study is being
done for doctoral studies or other applicable reasons

9. (participant will want to know what the principal investigator
gains by doing this study)
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The principal investigator clearly explains if (or what)
compensation will be provided (what does the participant gain
by participating in this study – if monetary or other concrete
benefit, how and when will it be distributed)
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Participant is given a clear explanation of exactly what
participation will involve (time required, type of activities
expected, type of questions asked, etc.)
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Participant is told that he or she has the right to choose not to
participate, and can withdraw at any time without harm
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Where applicable, participant is told that if child or dependent
adult abuse is detected, abuse will have to be reported
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Participant is given a clear explanation of potential risks or
discomforts and an estimate of likelihood of same
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As applicable, participants are told how to request results or
how they will receive results, and these processes are
appropriate and not unduly onerous
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Participant is told exactly how
privacy/confidentiality/anonymity will be maintained, including
who will see the data

10. FORMCHECKBOX
Participant is told if taping is possible or required and, if so,
how those tapes will be kept safe (including who transcribes the
materials – for example: principal investigator or a transcription
service).
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Participant is told that his or her decision to participate will not
affect any relationship that seems relevant
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Participant is given full contact information for principal
investigator and faculty research supervisor
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Participant is given IRB contact information including reason
why one might use same
The Attachments
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Attached an Institutional Permission Letter (where research is
taking place if appropriate) or an Assurance of Adherence to
Governmental Regulations concerning Human
Subjects/Participants (if research project is conducted outside
the US)
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Attached a Letter of Informed Consent and (where necessary)
Parent/guardian Permission Letter and Oral statement of
Assurance (used with minors)
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Provided all proposed data-gathering instruments (s):
Observation, Interview, or Survey with clear permissions or
documentation of ability to use

11. FORMCHECKBOX
Where appropriate, provided receipt for payment of instrument
or documentation of ability to use instrument (email permission,
print out of public domain status, etc.)
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Attached a conflict of Interest Disclosure Statement
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Included the CRP or Dissertation Chairperson/Research
Supervisor’s signature as well as the principal Investigator’s
signature
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Included CITI training forms for both applicant and research
chair on project
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Attached a copy of all recruitment materials
Huntington disease is a fatal disorder which is inherited in an
autosomal dominant pattern from one affected parent. The
disease is considered a progressive brain disorder because it
causes uncontrollable movements, emotional problems and loss
of cognitive abilities. Huntington’s disease affects people of
European ancestry more frequent in that 3 to 7 per 100,000 are
diagnosed (Huntington ’s Disease, 2015). Huntington’s disease
is caused by a mutation in the HTT gene, which provides
instructions for making a protein called huntingtin
(Huntington’s Disease, 2015). The damaged gene causes
excessive repeating of a segment of our DNA known as a CAG
trinucleotide. Repeats of this segment 40+times and more,
almost always causes Huntington’s disease to develop. The
repeated CAG segment causes an excessively long huntingtin
protein to form. It is then that the protein is cut into smaller
subsections. These abnormal fragments then bind back together

12. and accumulate in ones neurons; disrupting their normal
function, and eventually causing cell death. It is the
deterioration of these neurons that initiate the 3 stages of
Huntington’s disease.” Symptoms typically appear between the
ages of 35-44 years” (Living with HD, 2015).
The progression of Huntington’s disease evolves through stages.
In the early stage, individuals begin to notice mood differences,
changes in how they move, as well as cognition delays. During
this early stage, one can expect to be able to function, work, and
drive with little to no assistance. The mid-stage is when people
experience difficulty performing voluntary motor tasks,
swallowing and balancing, while find it difficult to control
movement. During this stage, individuals will often lose their
ability to work and drive. Assistance to perform daily tasks
associated with living is required. Reduced cognition during
this mid-stage often leads to irritability, aggression and
depression (Living with HD, 2015). Lastly, is the late stage.
Assistance is required with all activities associated with daily
living. One is also at high risk for losing their ability to speak.
Chorea (abnormal involuntary movement) can be severe, or
replaced by movement symptoms such as rigidity and dystonia.
Even though movement and voluntary motor skills are
compromised, the diagnosed is still able to comprehend their
surroundings. Life expectancy for Huntington ’s disease
patients is usually 15-20 years after symptoms are first
expressed (Living with HD, 2015).
References
Genetic’s Home Reference. ( 23 March, 2015). Huntington’s
Disease. Your Guide to Understanding
Genetic Conditions. Retrieved from
www.ghr.nlm.nih.gov/condition/huntington-disease
Huntington’s Disease of America. (2015). Living with
HD.Retrieved from hdsq.org/living-with
huntingsons/family-care/stages-of-hd.html