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Fragile-X Syndrome

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Fragile-X syndrome is a genetic condition that causes a large range of developmental problems including learning disabilities and cognitive impairment.

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Initial symptoms shown by person with the disease:

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Initial symptoms shown by person with the disease:

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(Can cause mild to severe disability)
Symptoms:

Delayed Speech

Anxiety

Hyperactive Behavior

Some people may experience seizures

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Common Treatments Associated with Fragile X Syndrome

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Common Treatments Associated with Fragile X Syndrome

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Behavior Therapy:
A therapy focused on modifying harmful behaviors associated with physical distress.
Medications:

Sedative-Common Drug: Clonidine

Anti-psychotic Therapy:
Reduces or improves the symptoms of certain psychiatric conditions.
Medications:

Common Drug: Resperidone

Cognition:

Enhancing Medication

Specialist Therapy:
List of different specialist a person with the disease can seek help with (are not limited to)

Pediatrician

Medical Genetics Counselor

Speech Therapist

Occupational Therapist

Physical Therapist

Clinical Physiologist

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Side effects of the disease and the treatments

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Side effects of the disease and the treatments

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Side effects of the disease:

Physical

Intelligence  and learning

Behavioral, social, emotional

Speech and Language

Sensory

Side effects of treatments/medications:
Clonindine-

drowsiness, dizziness;

dry Mouth, loss of appetite;

constipation;

dry eyes, contact lens discomfort;

sleep problems (insomnia)

Resperidone-

weight gain;

feeling hot or cold

headache, dizziness;

drowsiness, feeling tired;

dry mouth, increased appetite;

feeling restless or anxious;

sleep problems (insomnia);

nausea, vomiting, stomach pain, constipation;

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Fragile-X is a genetic disease, therefore it can not be prevented. However, even though it can not be prevented, it can be controlled by having families have genetic test done to see if their was any cases of family members having the disease making them aware and prepared for the future.

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Caused by an alteration (mutation) in the FMR1 gene where a DNA segment known as the CGG triplet repeat, is expanded. (Found on the X sex chromosome

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Fragile-X is inherited in an X-linked dominant pattern. Is considered X-Linked if the mutated gene is located on the X-Chromosome. The inheritance is dominant if one copy of the gene in each cell is sufficient enough to cause the condition.

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When a mother is a carrier of the fragile X chromosome, each child has a 50% chance of inheritance.

Since girls have 2 X Chromosomes, they are less severely affected as boys are.

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Comparing Normal X Chromosome with Fragile X Chromosome showing fragile site:

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Comparing Normal X Chromosome with Fragile X Chromosome showing fragile site:

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Populations with predispositions (those most often showing) to the disease:

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Populations with predispositions (those most often showing) to the disease:

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Effects more males than females

Effects about 1 in 4,000 males

Effects about 1 in 8,000 females

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To the class of biology students, my audience. I hope you were able to take something out of this padlet with you. I hope that each person in my audience whether you be a parent of someone with the disease or a student learn the importance of what fragile X syndrome is and how it effects people.

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“Fragile X Syndrome: MedlinePlus.” MedlinePlus Trusted Health Information for You, 22 Mar. 2018, medlineplus.gov/fragilexsyndrome.html
“Fragile X Syndrome - Genetics Home Reference.” U.S. National Library of Medicine, National Institutes of Health, ghr.nlm.nih.gov/condition/fragile-x-syndrome
“Learning About Fragile X Syndrome.” National Human Genome Research Institute (NHGRI), www.genome.gov/19518828/learning-about-fragile-x-syndrome/
Kaempf, Travis W. “Genetics Raft.” Padlet, 22 Mar. 2018, padlet.com/tkaempf19/ft6gafmhse5i
“Clonidine: Drug Uses, Dosage & Side Effects.” Drugs.com, Drugs.com, www.drugs.com/clonidine.html
“Common Side Effects of Risperdal (Risperidone) Drug Center.” RxList, www.rxlist.com/risperdal-side-effects-drug-center.htm
Fragile X Syndrome Pictures, syndromepictures.com/fragile-x-syndrome-pictures/