Tuberous Sclerosis

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Health Medical

University of New Orleans

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Instructions for QEP Writing-Intensive Course Major Paper Directions: Write a 6-7 page research paper about an epilepsy syndrome or other neurological disorder with electroencephalographic correlates. Some suggested topics are included below, but you may choose a disorder outside of this list. Your topic choice should be submitted to me through Canvas for approval no later than March 14th. Some common syndromes are excluded. Consider your fellow classmates and instructor to be your audience. You will share your paper with a small group of students for peer review later in the semester. Your paper should incorporate at least one figure demonstrating related EEG findings. The content of your paper will depend on the disorder that you choose, but the following should be included if applicable: • • • • • • • • • Ictal and interictal EEG findings age-dependent factors (onset, remission) etiology comorbidities seizure types o include seizure semiology for focal seizure types seizure triggers treatment prognosis other diagnostic tests 4. To score at least a 2.5 composite score on the AAC&U Written Communication VALUE rubric. Sources and citation format Use at least five references. At least one of these must be a peer-reviewed journal article. Use the databases accessed through the library to find journal articles and eBooks. Use APA format for citing sources and include a reference list at the end of your paper. See the Purdue Owl website for examples of the new APA format given in the 7th edition of the Publication Manual of the American Psychological Association. Purdue Owl APA Formatting and Style Guide Grading Your research paper will be given a letter grade, according to the rubric provided in Canvas. AAC&U Written Communication VALUE Rubric Your essay will also be scored using the UHC adapted AAC&U Rubric (see attached). The target composite score is 2.5. The criteria for your score include the following components: 1. 2. 3. 4. 5. Context of and Purpose for Writing; Content Development; Genre and Disciplinary Conventions; Sources and Evidence; Control of Syntax and Mechanics. Goals and objectives of this assignment 1. To conduct research about a neurological disorder; 2. To synthesize information from multiple sources into a cohesive paper; 3. To practice proper APA formatted citation of sources; 1
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Tuberous Sclerosis Outline

Student's Name
Institutional Affiliation
Course Name
Instructor's Name
Submission Date

2

Tuberous Sclerosis Outline
I.

Introduction

II.

Paragraph One
a. What is Tuberous Sclerosis?
i. Etiology
ii. Age of onset
b. Signs and Symptoms

III.

Paragraph Two
a. Seizures
i. Types of seizures
ii. Seizure onset
b. EEG findings
i. Background
ii. Ictal and interictal changes

IV.

Paragraph Three
a. Making the diagnosis
i. Differential diagnosis
ii. Diagnostic testing and results
b. Prognosis

V.

Paragraph Four
a. Management of Tuberous Sclerosis
b. Treatment options

VI.

Conclusion Paragraph


1

Tuberous Sclerosis

Name
University
Course Name
Date

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Tuberous Sclerosis
Introduction
Tuberous Sclerosis, also referred to as Tuberous Sclerosis Complex (TSC), is a genetic
medical complication that causes the development of benign tumors in various body organs such
as eyes, skin, kidneys, brain, and heart. According to statistics, it is evident that Tuberous
Sclerosis affects one in 6000 children at birth, and there are about 40,000 to almost 80,000 TSC
patients in the US. The statistics also reveal that there are approximately two million Tuberous
Sclerosis patients all over the world, and the medical condition affects both genders equally and
is evident in all ethnic groups and races (NORD, 2020). The research paper aims to explore and
determine the causes of the disease, the signs and symptoms of TSC, the diagnosis, management
techniques, and treatment options.
Etiology and Age Onset of Tuberous Sclerosis
Tuberous Sclerosis is caused by mutations in two genes, Tuberous Sclerosis Complex 1
(TSC1) and Tuberous Sclerosis Complex 2 (TSC2). The TSC1 gene is located on chromosome 9
and provides instructions for producing a protein called harmatin (Salussolia et al., 2019). On the
hand, the TSC2 gene is found on chromosome 16, and it instructs the production of a protein
called tuberin. The interactions of the harmatin and tuberin proteins in the cells help in
controlling the proliferation and cell size. Scientists postulate that harmatin and tuberin are
growth inhibitors as they hinder the stimulation of a protein referred to as mTOR (Randle, 2017).
Loss of mTOR regulation occurs in cells that lack either tuberin or harmatin, leading to abnormal
generation, development, and differentiation of enlarged cells, as evident in Tuberous Sclerosis
Complex brain tumors. Most TSC patients show the evidence of the complication at the age of

3
one year, but the clinical features can be uncertain at first, and most signs and symptoms take
time to develop and thus, TSC can be misdiagnosed or unidentified for years. Tuberous Sclerosis
affects the different body systems; thus, the signs and symptoms can be either mild or severe.
The common signs and symptoms entail lung lesions, benign tumors, kidney complications,
cognitive disabilities, heart complications, skin abnormalities, behavioral issues, eye problems,
and seizures.
Seizures and EEG Findings
Seizures refer to the instantaneous unrestrained electrical disorder in the brain, which can
cause changes in the patient's behavior, feelings, consciousness, and movement. The growths in...


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