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Angelman Syndrome Rough Draft
Angelman Syndrome Rough Draft
Ava Fitzgerald
Mrs. Schinzing
Exploration
30 April 2021
Angelman Syndrome
In Matthew 9:35, Jesus went through all the towns and villages, teaching in their
synagogues, proclaiming the good news of the kingdom and healing every disease and sickness.
“Angelman Syndrome is caused by a genetic mutation of the UBE3A gene, which is located on
chromosome 15 in the brain (Hisko).” There are three main reason for these genetic mutations in
the UBE3A gene; they are maternal deletion, imprinting defects, and small deletions, according
to J. Clayton-Smith. Angelman Syndrome (AS) is an ongoing battle for the patient and their
family that can only be explained through symptoms, communication, and daily life with an
Many patients are diagnosed with Angelman Syndrome at an early age, around 6-12
months old. “It occurs in approximately 1 in every 12 to 20,000 births (Hisko).” According to
might require a variety of tests to avoid. There are three main types of tests. There is a brain
MRI, a DNA test, and an EEG, to record activities in the brain. In genetic tests, they look for a
missing piece of the 15th chromosome, if the genes from both parents are active or inactive, and a
gene mutation in the mother’s gene, as Edens Hurst describes in her article. Their symptoms
As a newborn baby, they may appear healthy (Hewitt 6). “Laughter is usually provoked,
but the stimulus is often minimal, and the laughter can be inappropriate. Hyperactivity and sleep
disturbance are common in childhood and can pose major management problems (Clayton-
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Smith, Laan).” Thankfully, sleeping problems can easily be improved through melatonin and
strict bedtime. A few weeks after birth, babies with Angelman Syndrome will present a happy,
joyful demeanor, and easily provoked laughter, caused by a stimulus, may lead to laughing at
inappropriate times (Clayton-Smith, Laan). The most common symptoms in newborn babies and
infants include low muscle tone, heartburn, and trembling arm and leg movements, as Edens
Hurst describes in her article. Although they will still have the same disorder as the age, they are
The older the patients get, the better their attention span will be along with the ability to
remain quiet for longer periods of time. Symptoms change as the patients grow; for example,
they will drool, walk with their arms lifted, crossed eyes, and have an absence of any vocabulary
as toddlers. Although they may not be able to speak, patients love company and to watch tv. A
fascination with water and reflective surfaces is recognized in many patients. Mobility is very
delayed as patients can sit up at a year old, crawl anywhere from 1.5 to 2 years old, and start
walking from 18 months to 7 years old. As the patients grow into adults, their facial
characteristics will become more pronounced; common facial features are a wide mouth, deep-
set eyes, a tongue with the tendency to stick out, and a smaller head (Clayton-Smith, Laan). AS
While some symptoms are harder to recognize than others, there are very easily
recognizable symptoms in some children. A happy demeanor, arm and hand flapping, non-
verbal, and the facial and mouth structure are pronounced in AS patients. These symptoms are
helpful suggestions to the parents that their children may need to be tested for Angelman
Syndrome. Luckily, some characteristics of the disorder are not harmful or bad for the patient.
Angelman Syndrome is not yet able to be cured. Thankfully, some of the symptoms of AS are
easily fixed or improved. Sleep deficiency is a good example of this. When a strict bedtime is
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placed, the patient will begin noticing a routine to follow. Melatonin also helps them fall asleep
faster. Communication may not be completely established. But there are devices that can make
the communicating process faster and easier. These areas of betterment help advance the lives of
patients and their families. Sadly, not all symptoms can be helped.
Their verbal communication may improve by a few words in their whole lifetime, which
is not enough to be their only method of communication. Some seizures can be prevented, but
not all types of seizures can. Kyla, my interviewee’s daughter, takes medicine that controls her
seizures, but does not stop her catamenial seizures during her monthly cycle (Hunter). Another
thing that improves slightly every year is their development. Even as adults, patients will still
require supervision and need help for simple tasks that many other people can do. Treatments,
such as therapy, may be able to help improve some developmental problems caused by this
For symptoms such as hyperactivity, sleep deficiency, and developmental problems, there
is behavior therapy; Behavior therapy is used for people with mental disabilities such as
Angelman Syndrome. Its main goal is to change unhealthy behaviors in patients. Therapy for
managing problems and basic living skills is occupational and speech, where patients can expand
their communication and set goals for the future (Edens Hurst). And, to help advance their
mobility, patients may go to physical therapy as young as 8 months old (Hunter). Therapy is not
the only way to help develop new skills to help improve the patient’s mental and physical well-
being, there are some medicines to help Angelman Syndrome patients’ needs.
For example, to help prevent frequent seizures, Keppra, Depakote, and Onfi can be taken
on a daily basis. These control many seizures. Catamenial seizures, meaning they occur during a
monthly cycle, may still break through. Fludrocortisone, Probiotic, and Elavil may also be taken
for extra potassium, milder constipation, and to lower anxiety/gagging (Hunter). As patients
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grow up, their speech does not develop along with it.
They find different ways with gestures and pictures to communicate with those around
them. One basic system of communicating is by going near something and pointing to what they
might need or want. Without much speech, it is hard to comprehend what they want without a
visual aid. As daily routines are formed, simple commands may be better understood. While
people close or related to the patient, it is easier to “learn their language.” For this to happen, it
may take a long time (Communication in AS). Some tools, such as pictures, are very valuable to
Pictures can help those in communication with them reach a faster, more reliable
conclusion on what the patient is trying to ask or say. Some children may point to pictures of
food to determine what they want to eat for a meal. For example, if someone needs the patient to
choose between fruits, laying out a picture of a banana, strawberries, and an apple, patients will
understand what to do and point to the fruit they prefer at the time. This method can be used to
figure out what activity they might enjoy, person they might like, their likes, and dislikes
(Communication in AS). But through visual aids such as pictures, others may need specific
through sign language. Sign language is a very effective way for those who were not given the
ability to speak to connect with others. According to Merriam-Webster, sign language is “any of
various formal languages employing a system of hand gestures and their placement relative to
the upper body, facial expressions, body postures, and finger spelling especially for
communication by and with deaf people.” For this method of communication, sign language
would mainly be used for those close to the patient with Angelman Syndrome. Angelman
Syndrome patients are not deaf, so they are able to hear what someone might be saying to
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them, which is helpful for the patient and those talking to them. People that have been
diagnosed with Angelman Syndrome, at best, are able to say a few words.
If they are able to speak at all, their main vocabulary consists of common words, such as
mom, dad, or their own name. Some patients may use sounds that represent certain responses,
such as yes or no. But this would only be useful for those who know the patient well and spend
time with them. When patients are asked a question, their facial expressions are very helpful in
deciphering their response. For example, if an adult asked a person that was diagnosed with
Angelman Syndrome if they wanted to go to the pool, and the person smiled and squealed, that
would most likely mean that they would like to go to the pool. When patients combine their
facial expressions with sounds and gestures, it makes it easier to interpret what they might want
(Communication in AS). As some of the more modern communication tools, they may use
It “includes all of the ways we share our ideas and feelings without talking.” There are
aided and unaided AAC devices. Unaided systems include gestures, body language, facial
expressions, and some sign vocabulary. Aided systems are separated into two different
categories: basic and high-tech. For example, writing, pointing, and touching certain pictures or
high-tech aided system, such as NovaChat device, is helpful for their communication.
personalized based on the needs of the patient using it. One of the most important pages allows
the user to chat with others, which is very useful in communicating. Some choices that can be
personalized are what each page allows them to do and show them. For example, you may have a
page of description, a page talking about yourself, and a page with videos or entertainment for
them to watch. This device may sound very useful to those who are not able to communicate
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orally. But patients may need to be prompted to use it and not think of picking it up usually.
Another challenge with this device is the patient’s aim. They like to flap their arms and hands,
which may lead to pressing the wrong button, leading to confusion. If someone is not there to
help them out, they might start randomly pressing multiple buttons without much thought
beforehand (Hunter). With all these difficulties it is a long learning process, but it is worth the
effort when they are able to communicate easier. AS patients will require supervision for their
entire life.
Because of the slower development in these people, there are many tasks that most
people do independently, but they need extra help and attention. For example, AS patients may
need assistance to brush their hair or brush their teeth. At the beginning of the day, they may
need help putting on their shoes and socks before going outside. Patients may wear diapers for
years after many people would have stopped, but they may be able to accomplish some parts in
the process of using the bathroom. Thankfully, there are some daily care tasks that Angelman
Syndrome patients can do on their own. These tasks include feeding themselves finger foods,
eating with utensils, which may be messy, and drinking through a sippy cup (Hunter). This is
helpful for their parents or usual caretakers because it gives them one less thing to do. Although
the patient must push through many struggles throughout their lifetime, many people do not
realize how much their parents, siblings, and other caretakers must provide and sacrifice
daily.
From the second a baby with AS is born, the parents have to deal with an upset baby,
crying constantly, and sleeping very little during the night. But thankfully, as they get a little
bit older, they present a constantly happy attitude. There are ways to help fix sleeping and
eating problems (Hunter). Throughout their childhood, parents may have to take their children
Through the symptoms, communication, and life with an Angelman Syndrome patient,
understanding the daily life of those diagnosed with this genetic disorder will be much easier.
Although the patients struggle with many challenges, such as a lack of speech, it is not easy to
communicate, help, and care for a patient. Their symptoms require many specialized doctor and
therapist visits to improve the way they must live. While many people may not know about this
genetic disorder, it is still a major obstacle for patients and their families. Imagine living under
constant supervision and forced help with only a few words to communicate to fall back on.
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Works Cited
Augmentative and alternative COMMUNICATION (AAC). (n.d.). Retrieved April 15, 2021,
from https://www.asha.org/public/speech/disorders/aac/
Clayton-Smith, J, and L Laan. “Angelman Syndrome: A Review of the Clinical and Genetic
Aspects.” Journal of Medical Genetics, BMJ Publishing Group LTD, 1 Feb. 2003,
Edens Hurst, Anna C. Angelman Syndrome, edited by David Zieve, Medline Plus,
medlineplus.gov/ency/article/007616.htm#:~:text=Angelman%20Syndrome%20(AS)
Hewitt, John. Angelman Syndrome: Causes, Tests, and Treatments. CreateSpace, 2011.
Hisko, Kirk, and Robin Hisko. “Our Daughter’s RARE DIAGNOSIS- Angelman Syndrome-
2021.
The Friendship Circle. 6892 West Maple Rd., West Bloomfield, MI 48322. 10 March 2021.