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As a college student I have chosen to research this disease and present it to you, a biology class. Angelman syndrome was a good choice for a class presentation because this disease affects certain chromosomes and is hereditary. Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. It causes severe intellectual disability and distinct facial features as well as delayed development and severe speech impairment. Teaching a disease like this to a biology class will most likely boost your knowledge on genetics and what chromosomes cause which disease under a mutation.

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The symptoms for Angelman syndrome are characteristic to the disease and most of which having to do with the nervous system.

Symptoms Include
- Delayed development
- Intellectual disability
- Severe speech impairment
- Problems with movement and balance
- Recurrent seizures (epilepsy)
- Small head size (microcephaly)

Delayed development becomes noticeable by the age of 6-12 months and other common symptoms appear in early childhood.

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When researching this disease I have found that Angelman syndrome is not curable but there is research being focused on targeting the specific genes for treatment. The treatment used today focuses on managing the developmental issues.

Treatments Include
- Anti-seizure medication to control seizures
- Physical therapy to help with movement and balance problems
- Communication therapy, which can include sign language and picture communication for help with speech impairment
- Behavior therapy to help overcome hyper activity, short attention span, and to aid in development
- Sedative drugs to calm hyperactivity
- Stimulant drugs to control hyperactivity
- Surgery to correct severe strabismus (crossed eyes) and scoliosis if present

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Side Effects of the Disease and Treatments

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Side Effects of the Disease and Treatments

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Angelman syndrome treatment doesnt have many side effects and the side effects of the disease are the symptoms. Some treatment medications for hyperactivity and epilepsy can have side effects including:

- Anticonvulsants: can cause drowsiness and hyperactivity
- Sedatives: have a risk of overdose and can cause headaches and dizziness
- Stimulants: can cause nervousness, insomnia, nausea, dizziness, heart palpitations, headaches, increased or decreased blood pressure, and abdominal pain

Some side effects of the disease include:

- Seizures that recur and cause convulsions may eventually impair intelligence
- Limited mobility that can include fine tremors, jerky limb movements, hand flapping, and a wide-based, stiff-legged gait
- Chronic constipation

Seizure Medication Side Effects

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Angelman syndrome, as I have studied and found, has no known way to prevent it. Most of the cases of this disease are caused by spontaneous genetic mutation and we don't know how to prevent and correct the randomness of this disease. However genetic counseling can be used to assess risks to siblings and other family members based on knowing the mechanism involved in causing the loss of expressing this trait at a molecular level. This is to help people understand what causes Angelman syndrome and how your family maps out to see who else has the trait for the disease.

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The Chromosome Angelman Syndrome is Associated With

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The Chromosome Angelman Syndrome is Associated With

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Now to the main reason why I was instructed to teach a biology class. About 85% of Angelman syndrome cases can be confirmed with genetic testing because most individuals hold the defect in the gene that causes Angelman syndrome. The disease is caused by a chromosomal rearrangement called translocation or by a mutation or other defect in the region of DNA that controls activation of the UBE3A gene. Most cases of Angelman syndrome occur when a segment of the maternal chromosome 15 containing this gene is deleted. In a small percentage of cases, the disease results when an individual inherits two copies of chromosome 15 from from his or her father instead of one copy from each parent called paternal uniparental disomy. This applies to your lessons on genetics in biology because this is a mutation and most commonly a deletion of chromosomal material in chromosome 15.

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Surprisingly most cases of Angelman syndrome are not inherited, particularly those caused by a deletion in the maternal chromosome 15 or the paternal uniparental disomy. The more common way to get this disease is through deletion, which is part of what you are studying in class. The genetic changes, in this case deletion of chromosome 15, occur as random events during the formation of reproductive cells or in early embryonic development. Affected individuals typically have no history of the disorder i their family. However, rarely, a genetic change responsible for the disease is inherited. It is possible for a mutation in the UBE3A gene or in a nearby region of DNA that controls the activation of this gene to be passed down from one generation to another. This is a rare case but most individuals with the disease do not inherit the mutation.

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Populations With Predispositions to the Disease

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Populations With Predispositions to the Disease

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As I was researching this disease I found that there are no specific racial population that primarily get Angelman syndrome. The disease is a random mutation of chromosome 15 so no population gets the disease more often than another

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“Angelman Syndrome - Genetics Home Reference.” U.S. National Library of Medicine, National Institutes of Health, ghr.nlm.nih.gov/condition/angelman-syndrome.

Angelman Syndrome - Natural Living Center, www.naturallivingcenter.net/ns/DisplayMonograph.asp?StoreID=b571dewxvcs92jj200akhmccqa7w8v75&DocID=condition-angelman.

“Angelman Syndrome.” Mayo Clinic, Mayo Foundation for Medical Education and Research, 2 Mar. 2018, www.mayoclinic.org/diseases-conditions/angelman-syndrome/diagnosis-treatment/drc-20355627.