Goldman Fristoe Case Study

Goldman Fristoe Case Study
Before I gave the Goldman Fristoe to Lauren, my client, I asked why she they wanted to bring her in
to the Butler University Clinic. The parents said that her preschool teacher had a hard time
understanding her in class and suggested to take her to a speech pathologist. Lauren spoken
language is English and there were no prior medical issues. Therefore, I decided to give Lauren the
Goldman Fristoe to see what phonemes she struggled with. Since Lauren is 4 years, 10 months and
17 days old, I gave her the sounds–in–words section then sounds–in–sentences section for ages 4:0–
6:11. During the sounds–in–words section, I showed Lauren a series of pictures and asked her what
each picture was. Sometimes I would point out specific out in the picture and asked her what that
certain object was. This section focused on ... Show more content on Helpwriting.net ...
I felt I did a decent job at giving the Goldman Fristoe to Lauren. I read the directions and tried to
make taking the test fun. I used the directions whenever Lauren did not say the word I wanted to
hear and did not talk monotone. I From the view of a client, I felt taking the Golden Fristoe was
difficult. It was difficult to mispronounce phonemes within words. Though I practiced
mispronouncing my phonemes, when I came to taking the test, I still struggled mispronouncing
them. It was easier to mispronounce phonemes in words rather than in sentences. I also found it hard
to mispronounce phonemes during the stimulability section of the test. I felt one thing I could have
done to make the test giving process better is being more fluent when giving the test. One thing I
could have done to make taking the test easier is mastering my incorrect phonemes. While I was
taking the test, I was trying to fronting and stopping. I thought scoring the Golden Fristoe was fairly
easy. All I had to do was add up every phoneme Lauren mispronounced in each section for a raw
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Toxic Shock Syndrome Research Paper
Toxic shock syndrome is a rare, life–threatening complication that is the outcome of certain types of
bacterial infections. It is caused by the release of poisonous substances due to an overgrowth of the
bacteria Streptococcus aureus, or strep, which is found in the bodies of most women. Toxic shock
syndrome has historically been associated primarily with the use of superabsorbent tampons.
However, due to this fact most manufacturers have pulled certain types of tampons off the market;
which has caused the incidence of toxic shock syndrome in menstruating women to decline. Toxic
shock syndrome can also affect men, children, and postmenopausal women. Risk factors for toxic
shock syndrome include skin wounds and may even lead to surgery. If there is someone at risk for
toxic shock syndrome they must look out for the symptoms so they can get immediate medical care.
... Show more content on Helpwriting.net ...
Possible signs and symptoms of toxic shock syndrome include a sudden high fever, low blood
pressure (hypotension), vomiting or diarrhea, a rash resembling a sunburn located particularly on the
palms and soles of the feet, confusion, muscle aches, redness of the eyes, mouth and throat, seizures,
and headaches. If you have signs or symptoms of toxic shock syndrome call your doctor
immediately. This is especially important if you've use of tampons or if you have a skin or wound
infection. Toxic shock has been associated with using contraceptive sponges, diaphragms or
superabsorbent tampons, and having a viral infection such as the flu or chickenpox. Toxic shock
syndrome can progress rapidly into shock, renal failure or even

Cri-Du-Chat Syndrome Research Paper
Cri–du–Chat (cat's cry) Syndrome is a rare chromosomal disorder that is caused by the deletion of
genetic material on chromosome 5. Due to this, this syndrome has an alternative name, known as
5p–, or 5p minus syndrome. Although this genetic defect is able to be diagnosed, the cause of the
deletion on the chromosome is unknown. Almost all cases of the Cri–du–Chat Syndrome are found
to have no relation with family members or previous generations. This syndrome is generally not
inherited, as the deletion occurs randomly during meiosis (the formation of the gametes). In about
90% of people who have this condition, the deletion is completely random and is not inherited. The
remaining 10% of affected people inherit a chromosome with a deleted section from an unaffected
parent. This is because the parents' balanced ... Show more content on Helpwriting.net ...
This deletion can occur through a variety of genetic arrangements, in the form of unbalanced
translocation, ring chromosomes, interstitial deletion, and inversion. The main symptom of
individuals with Cri–du–Chat is that at a young age, they have a high pitched cry, that resembles
that of a cat. This cry generally becomes less noticeable as the individual ages. Some of the other
symptoms of Cri–du–Chat Syndrome are mental retardation, hyperactivity, delayed development,
small heads, round faces, low nasal bridges, widely–spaced eyes, low birth weight, and weak muscle
tone. Since the size of the deletion of the genetic material varies between each affected person, these
individuals can all show slightly different symptoms and levels of intensity with these symptoms.
Individuals with this syndrome may come across feeding issues due to difficulties in swallowing
food and sucking in liquids. They also sometimes lack sufficient communication and verbal skills,
and face delays in the progress of learning to walk. There is no cure for Cri–du–Chat Syndrome as
of

Prader Willi Syndrome Essay
Within the couple of hours of my niece Janelle being born, doctors were concerned how little she
was and her slow mobility. Unaware of her condition in Brownsville, she was sent to Driscoll
Hospital in Corpus Christie within a couple of weeks. While being in the care at the hospital,
medical doctors diagnosed Janelle with Prader–Willi Syndrome. As you can imagine, so many
questions and thoughts went through her parent's minds. To start, what is Prader–Willi Syndrome
(PWS)? According to Genetic Home Reference, PWS is a complex genetic condition that affects
many parts of the body, such as muscle tone, insatiable appetite, intellectual impairment, and
learning disabilities. Which Janelle experiences these abnormalities and we have to take
precautionary actions on a daily basis. It is a rare disorder present at birth and we can do nothing to
prevent this and ... Show more content on Helpwriting.net ...
Another study states, PWS affects one out of every 10,000 births to 30,000 people globally and
affects both males and females of all races and ethnicities ("What is Prader–Willi Syndrome, n.d.").
In addition, people with PWS have a loss of active genes in the region chromosome 15.
Furthermore, USA Prader–Willi Syndrome Association (USAPWSA) explains, "In PWS, these
critical genes are either missing (deleted) from the father's chromosome 15, functioning improperly
because of an imprinting defect, or the entire chromosome 15 from the father is missing and both
chromosome 15s come from the mother." This complication happens randomly, either during
reproductive or embryo development. For instance, our family has no history of obesity or these
other complications, yet my niece Janelle has a behavior issue, developmental disorders, and has
been diagnosed obese as well as having diabetes type 2 this

No Body Shaming In Pop Culture
Body Shaming is a topic that is coming up a lot lately in pop culture. If you watch TLC's show "My
Big Fat Fabulous Life" with Whitney Way Thore you should be familiar with it. Whitney is thirty–
two years old and suffers from PCOS (Polycystic ovary syndrome) ("What Is No Body Shame?").
She started a campaign called "No BS" ("What Is No Body Shame?"). Whitney believes that we
were put on the earth for a reason, not to look a certain way ("What Is No Body Shame?"). In her No
BS campaign video Whitney says, "It is when they tell you have a pretty face. It's when they look at
you and ask, "what are you?". It is when they tell you to eat a cheeseburger or want to know what
happen to you. It is when they try to sell you make up and wrinkle cream ... Show more content on
Helpwriting.net ...
I was a cheerleader and it was very obvious the coach did not like me. I could not figure out why, I
had barely said two words to her. It started during the summer, the coach would purposely leave me
out and not tell me about deadlines. In September when we were doing fittings for uniforms I finally
understood why. I had told the coach that in order for my uniform to properly fit I would need it
altered, like I did in middle school. The coach replied my measurements were fine and I should fit in
the biggest size. The day my uniform came in I rushed home to try it on. As soon I got it on I cried.
The uniform barely covered my body and the coach was refusing to let me alter it. I had never been
more embarrassed in my life. The coach made me feel awful about myself. It took my mom going to
the principal and superintendent to finally get my uniform altered. When practice started in
November I was the only cheerleader doing just basketball cheer, that means it was just review for
the other girls. It seemed like the coach did everything in her power to act like I was not there and
when she did acknowledge me she was very cold. Needless to say I came home from the first week
of practice

Medical Causes of Obesity Essay
Close your eyes and picture this, you are outside of a favorite cafe looking for a table. You are just
about to sit on the patio to enjoy a steaming hot cup of coffee, when you look to over and see the
most disgusting sight ever. He looks absolutely mountainous; there are rolls upon rolls suffocating
his body. Food is flying everywhere, lettuce is being launched through the air, and there are pieces
of meat all over the table and floor. You are astounded to see that he is trying to snag his third
burger. You then walk away utterly shocked that someone can let their dog get that fat. That is right
what I was describing was about a canine, not a human being, which is what I bet you thought while
reading the description. Society and the ... Show more content on Helpwriting.net ...
When these glands get damaged which can happen in numerous ways like, for example the gland
getting inflamed or through an autoimmune disease, it can cause hypothyroidism
("Hypothyroidism," 2010). Hypothyroidism is a medical condition where the thyroid gland does not
produce enough thyroid hormones. When this happens it affects your metabolism by slowing the
process down, and when you metabolism is slow you are extremely likely to gain weight (Pick,
2005). Unlike Hypothyroidism, the next disease causes obesity in a completely different way. The
next condition that contributes to obesity is Cushing's disease. While this disease may not be quite
as common as hypothyroidism, it still manages to affect around fifteen–million people each year.
Cushing's disease is a condition where the body is exposed to a high amount of cortisol. This
syndrome can be caused in two ways. The first way this is that the body itself produces too much
cortisol ("Cushing's Syndrome," n.d). The second way is when a person takes a corticosteroid
medication (Mayo Clinic Staff, 2010). During both ways, the excessive cortisol causes the body to
"shift energy in the form of fat" ("Cushing's Segment," 2010). The disease causes weight gain in the
upper body, especially in the face and abdomen regions. There will also tend to be a lot of fat
deposits in the cheeks, which causes people to have the appearance

Sleep Apnea Theory
Epidemiology: Obstructive sleep apnea is becoming more prevalent in adults and children in our
society. Obstructive sleep apnea is undiagnosed mostly in women being 92% and 80% in men. The
estimated prevalence in women is 2% and in men is 4%. A study was done by the University of
Pennsylvania revealing that the prevalence in women was 4% and 9% for men. Another study called
The Wisconsin Cohrt study showed that people who are 30 to 60 years old, the prevalence is 9–24%
for men and 4–9% for women. Although Obstructive sleep apnea is less certain in children, in the
recent years they have seen an increase of cases of children who have sleep apnea. This is due to the
fact of children being obese or to their counterparts. Although there has been an increase of cases
this might be an effect of being sleepy or hyperactive. Nonetheless as a result of a recent study in
2007 they have concluded that 6% of children who are teenagers. There was a done by The
California University of ... Show more content on Helpwriting.net ...
There was a community sample performed to see what was the percentage of people who are 65
years or older. After the tests they found out that the prevalence was 65%. After 65 years old there is
no big difference on the topic of Obstructive Sleep Apnea. According to Community studies The
male to women is 2–3:1. The body patterns of males including body fat distribution makes them
more inclined to get Obstructive Sleep Apnea. Women are not only less likely than men to get
Obstructive Sleep Apnea, but also are less likely to get diagnosed early in the disease process. It has
been proven that the rates of survival are lower for women due to the fact of they get the diagnosis
too late. Studies also show that women have a higher prevalence to get Obstructive Sleep Apnea
after Menopause.

Williams Reflection
Tierani Richardson
SP Reflection 16
Content: Group one presented over Williams Syndrome. Williams Syndrome is a genetic condition
that is caused by a deletion of 26–28 genes on chromosome seven. The more genes deleted, the
more severe the characteristics will be. The deletion is also present from conception due to an
abnormality of the egg or sperm cell. The syndrome is named after John C. Williams. However,
Alois Beuren is also credited for research on Williams, which is why it used to be referred to as
Williams–Beuren Syndrome. Williams occurs in less than 20,000 people in the United States! That's
incredibly rare! It is also interesting to know that the disorder affects males and females equally.
Some key characteristics of this ... Show more content on Helpwriting.net ...
It was also interesting to see the support groups and foundations of Williams Syndrome across the
world including places like New Zealand, Australia, Hungary, and South Africa.
Process: I think group one was well organized and spoke extremely well. I enjoyed their
presentation. I liked the presentation overview in the beginning that explained what we would be
introduced to and who would be speaking, this was a great organizational touch! I loved the first
overview video the group showed. It explained the syndrome wonderfully and was interesting to
watch. I like how Tatum pointed to the chromosome picture and explained the crossover. However, I
think she should have turned the other way so her voice would have projected to the entire class.
She also did a great job with the pronunciation of all of her names and terms. I like that she took the
time to perfect this detail. I also liked how she bolded the "main" points of her slides. It was a great
way to make those points salient. Karlee also spoke well and I liked how she defined affinity and
circumlocataion. I did not like how she was the only one wearing jeans. She looked great, but I think
she should have worn dress pants to match the rest of her group. Sydney did well, however, I think
her portion was too brief. For example, I think she should have given examples over the different

Baby Cam Analysis
Did you know there are more uses for baby cams than just checking on your baby? Like making
adorable video clips of a parent's devoted care of a cranky baby. For several months, Michela could
not sleep through the night and woke up crying every two hours. Here is a video of what happened
one night during that period in her young life. (Video) In this baby cam video from 2009, Michela's
devoted Canadian father Nunzio Raso goes to check on his crying daughter. He first tries to pat her
to clam her down. When that fails, he comes up with a brilliant new plan and climbs into the crib
with her. It works! She quickly settles down and seems to fall asleep. There's only one problem: He's
laying on his back with his knees scrunched up and his head

Cyclic Vomiting Syndrome: A Case Study
Introduction Approximately 2% of children are thought to suffer from cyclic vomiting syndrome
(CVS), with an increasing number of cases in adults as well. (Mayo Clinic Staff, 2013) It is a
chronic disease; the individual will suffer bouts of severe nausea and vomiting, and then go into
remission for a period of time. Some of the patients have noticed episodes occurring more
frequently at certain times of the year, while others experience it during certain times of the day;
especially in the morning. CVS occurs in four phases; prodromal, emetic, recovery, and
asymptomatic. During the prodromal phase, the individual may feel nausea, fatigue, feverish,
lightheadedness, and a sense of doom, among others. They may also experience tachycardia and
hypertension due to adrenaline. ... Show more content on Helpwriting.net ...
It also includes hot flashes, chills, headache, photo/audio sensitivity, and diarrhea. Patients will
frequently feel horrendously dehydrated and will drink large amounts of water; only to throw it back
up soon after. Finally, some patients have reported being in a "conscious coma", which includes
lethargy, listlessness, withdrawal, and disorientation. This phase can last for several hours to several
days and can have serious consequences such as electrolyte abnormalities, GI bleeding, and
esophageal perforation. The recovery and asymptomatic phases occur afterwards, where the patient
is able to take oral medications without issue. (McCallum, R. W., Parkman, H. P., et al, 2015.)
Causes for this condition are unknown, but it's thought to be activated by certain kinds of stress on
the body. This is including but not limited to colds/allergies, emotional stress, anxiety, overeating,
menstruation, and motion sickness. Migraines and the use of marijuana have been studied in their
relationship with CVS, but there is nothing yet proving these possible links. (Mayo Clinic Staff,

Cushing's Disease In Dogs
When a dog has too much Cortisol in their body (usually in their adrenal glands), it can result in
them getting Cushing's disease. It is the most common hormone related disease in dogs.There are
other causes of this disease in dogs like taking medicine with Cortisol in it for a long period of time
or having a tumor in the adrenal gland. However, the main cause of this disease in dogs is their
bodies producing too much Cortisol.
Most of the dogs that get Cushing's disease are over eight–years old. The dog breeds that are more
likely to get this disease are Boxers, Dachshunds, Poodles, and Terriers. It is also more prevalent in
female dogs.
Diagnosing Cushing's Disease in Dogs
There are symptoms that a veterinarian ... Show more content on Helpwriting.net ...
It helps regulate hormones and the body's circadian rhythms. It is also a natural hair loss treatment
for dogs, cats, and ferrets. Plant Lignans when taken with Melatonin help treat some of the
symptoms of Cushing's.
Canine Life Expectancy With Cushing's Disease
The canine Cushing disease life expectancy depends on where the disease originated. If it started in
the adrenal gland, the life expectancy of canines with Cushings Disease is usually about three years.
If the dog has a pituitary gland issue, then they can be expected to live about two years. The younger
a dog is when their Cushing disease is diagnosed, the better their canine Cushing disease life
expectancy will be.
Other health problems, like diabetes and infections, can reduce the life expectancy of canines with
Cushings Disease. Other health problems like tumors that spread from the pituitary gland into the
brain or blood clots in the lungs can also appear not long after a dog starts treatment for this disease.
When health problems like these arise, the owner of the dog must decide whether it is a good idea to
put their dog to sleep or

Angelman Syndrome : The Happy Puppet Syndrome
According to the US National Library of Medicine (2017), Angelman Syndrome, also known as
Happy Puppet Syndrome is a "complex genetic disorder that primarily affects the nervous system."
Angelman Syndrome occurs when there is a change to the E3 Ubiquitin Protein Ligase Gene
(UBE3A) located on chromosome 15.
Angelman Syndrome was first discovered by Harry Angelman, a Physician in 1965, when he
witnessed three young children who represented similar symptoms. They all had bright, happy
personalities, along with stiff movements, lack of speech and seizures. While in Italy for the
holidays, Harry Angelman visited a museum that showed a picture of a puppet that had the same
physical appearances as his patients. He diagnosed his patients with Happy Puppet Syndrome,
which would later be known as Angelman Syndrome. In 1987, Ellen Magenis, who is also a
physician, identified children who seemed to have Prader–Willi Syndrome, a similar genetic
disorder to Angelman Syndrome. The difference between Angelman Syndrome and Prader–Willi
Syndrome, is that Angelman Syndrome can be caused by the deletion of the maternally derived
chromosome 15, while Prader–Willi Syndrome is the deletion of the paternally derived chromosome
15.
Symptoms of Angelman Syndrome include, but are not limited to sleeplessness, hyperactivity, short
attention spans, feeding difficulties and sensitivity to heat. It is also common for people with
Angelman Syndrome to have developmental delays, lack of speech,

Angelman Syndrome and Prader-Willi Syndrome Essay
Angelman Syndrome & Prader–Willi Syndrome
Introduction
Prader–Willi and Angelman Syndrome are two genetic disorders with vastly differing phenotypes
linked by missing genetic imprints on the 15th chromosome's q arm between regions 11 and 13 .
While both orders result in mental deficits, their symptoms are otherwise segregated from the other
in their entirety. The differences in the disorders are the result of differing DNA methylation patterns
present in maternally and paternally inherited DNA. If the deletion occurs in the mother's DNA,
then Prader–Willi Syndrome appears. When the deletion occurs in the father's DNA, Angelman
Syndrome is the result.
The phenotypical differences between the two disorders are drastic. Those with ... Show more
content on Helpwriting.net ...
The Nature of the Disease Angelman syndrome is thought to be caused mainly by the deletion of the
maternally inherited copy of UEB3A. A small number of cases are also caused by failures in
imprinting or, very rarely, monosomy 15 in the egg and disomy 15 in the sperm. The profound
mental effects are caused by this gene due to the fact that, while UEB3A's protein is active in
various bodily tissues, only the mother's copy of the gene is active in the brain. The phenotype of
Angelman Syndrome is not overt enough to be detected unless it is being specifically looked for.
EEG scans are capable of detecting the disease at early ages, before it is otherwise possible to
detect.
Prader–Willi
Prader–Willi is caused by either deletions, failure in imprinting, or monosomy/disomy 15 from the
father's side. The genes involved are known to include, but are not known to be limited to SNRPN
and NDN. NDN odes for the protein Necdin, which, in rodents, interacts with neurotrophin
receptors in a way that is not completely understood to promote normal cognitive development.
SNRPN codes for several products, including small nucleolar RNAs, a splicing factor involved in
RNA processing, and a polypeptide known as SNURF. The precise role of this gene is unknown.
Symptoms. Prader–Willi syndrome presents symptoms beginning in utero, where the fetus is less
active than one without the

Reflection On Velocardiofacial Syndrome
Tierani Richardson Reflection 15 Content: Our group was assigned velocardiofacial syndrome
(VCFS). I was excited to receive a syndrome to which I had not been exposed. I was assigned
etiology, history, and incidence/prevalence. I learned that VCFS originates from the Latin words
"velum" which means "palate," "cardia" which means "heart," and "facies" which means having to
do with the face. It is the most common syndrome associated with cleft palate! Additionally, VCFS
is an autosomal dominant condition. This means that once a person is recognized as having VCFS,
they have a 50 percent chance of passing the syndrome on to their offspring. VCFS is characterized
by a small deletion of chromosome 22, more specifically in the region of 22q11.2. This deletion
results in about 30 genes becoming absent from chromosome 22. Two genes in particular–COMT
and TBX1–are associated with VCFS (not all genes that cause VCFS have been identified).
However, I am not sure why these genes are involved. I tried to research the reason, but could not
find a plausible explanation. I also learned that more often than not, neither parent of a child with
VCFS has the deletion of 22q11.2. This means that the condition is NEW in 93 percent of offspring.
The good news is that the chance for the couple to produce another child with VCFS is close to zero.
The deletion occurs as an accident when either the egg or sperm is being formed, OR early in fetal
development. Angelo DiGeorge, MD, is one of the people

Sturge-Weber Syndrome Research Paper
Sturge–Weber Syndrome Kris Avila 08/30/2015 NURSPT 030L Mrs. B Abstract According to the
Sturge–Weber Foundations, Sturge–Weber Syndrome can be diagnosed once the baby is born. With
the most obvious characteristics, the baby will have a dark purple birthmark that covers close to half
of his/her face. Another symptom from Sturge–Weber Syndrome is that it can cause neurological
deformity. Both of these symptoms are caused by the abnormal blood vessels near the eye and on
the surface of the brain. Studies have shown that this syndrome is not passed from family history,
but the only remedy we can do is to suppress it (Sturge–Weber.org). One of the most amazing
miracles in life is when a child is born. Upon birth, ... Show more content on Helpwriting.net ...
The only way to cope with the disease is to control it and improving the person's lifestyle. (Moore,
2012). Pinpointing what kind of symptoms and category of Sturge–Weber Syndrome the person has,
an MD can figure out what types of remedies are available. There are many different types of
pharmacologic treatments for seizures. Most of the seizures from the disease are located only on one
side of the brain's hemisphere. Some of the medications include Carbamazepine, Phenytoin,
Oxcarbazepine, Lamotrigine, Levetiracetam, Valproic Acid, Zonisamide, Topiramate, Lorazepam,
Phenobarbital, Gabapentin, Pregabalin, Tiagabine, Diazepam, Felbamate, Lacosamide, and
Clonazepam. With the seizures being controlled with medications, it helped prevent future seizures
from 10% to 50%. Besides medications, there are also surgical treatments available as well. Early
surgery for patients with Sturge–Weber Syndrome is to improve and prevent developmental delay,
refractory seizures, and hemiparesis. Lobectomy and craniotomy were recommended once being
diagnosed with the disease because doctors have found that early onsets of seizures can lead towards
mental retardatation. A procedure called hemispherectomy is also recommended to be given when a
unilateral epileptogenic region exist. This procedure is also done while the patient is still young. It is
preferable because the epileptogenic region is smaller. Studies have shown

Williams Syndrome Research Paper
William Syndrome
What is Williams Syndrome?
The William syndrome is also known as WS, WMS and Williams–Beuren Syndrome (WBS). WS is
an uncommon genetic disorder that is present at birth which can also affect females and males
equally of any culture. The characteristic facial appearance and loving personality is what makes
this rare syndrome to be unique. Most affected individuals with WS can have from mild to moderate
retardation.According to the Williams Syndrome Association 20,000 people are affected by WS in
the United States. Is caused by the deletion of more than 26 genes in one copy of an individuals in
chromosome #7. The National Institute of Neurological Disorder and Stroke says that an individual
with Williams Syndrome have 50 percent ... Show more content on Helpwriting.net ...
This determine how the deletion or extra piece of DNA can anywhere in the person's chromosomes.
This test is slow but is a great tool to help find out how big is the missing part of the DNA or how
severe is the condition of the individual.
How is it treated William Syndrome?
Williams Syndrome is not cure yet because is caused by a genetic disorder. The early diagnosis can
lead to better understanding and happier life for the individual and family. Usually Hypocalcemia
happens in the first and second year of life of the child and a low calcium diet is prescribed to help
the child. Ways to help the individuals with WS their families is to use the local resources like:
* General Practitioners
* Health Visitors like physicians, physiologists and speech therapist.
* Local Education departments
* In addition with specialist and experts with William Syndrome like a geneticist because every
individual is different.
Include the prognosis of

The Article Is Titled “Communication Modality Sampling
The article is titled "Communication Modality Sampling for a Toddler with Angelman Syndrome"
by Jolene Hyppa Martin, Joe Reichle, Adele Dimian, and Mo Chen. The authors explored three
modes of communication, vocal, gestural, and graphic, with a young child with Angelman
syndrome. The researchers investigated which mode of communication would be the most effective
and efficient for the child.
Angelman syndrome can cause cognitive, communication, and physical disabilities. It is a disorder
that affects around 1 in 10,000 births and for the majority of the cases, the cause is genetic.
Angelman syndrome can be caused by an abnormality in chromosome 15. Previous research on
Angelman syndrome and the different communication modes is lacking. ... Show more content on
Helpwriting.net ...
This symbol is taught in gestural, graphic, and vocal mode. The modality sampling has many
advantages, one of the most important being that it provides important intervention resources.
The main purpose of this study was to compare the efficacy of graphic and gestural modes of
communication with a toddler with Angelman syndrome (Martin, Reichle, Dimian, & Chen, 2013).
The participant was Adam, a 21–month–old male with Angelman syndrome. Before the study
started, Adam was assessed in communication, cognition, and fine and gross motor skills. Adam did
not engage in vocal imitation or turn taking. His mother reported that Adam would sometimes
vocalize to get her attention, he would also protest, request, and express excitement. Adam's fine
motor skills were delayed, but he had adequate movements to produce gestures for the study.
Before the sessions started, the three researchers went through a role–play training. This was done to
increase reliability and interobserver agreement between the researchers. The 44 sessions occurred
at the participant's house or at his day care center. The first session was a baseline probe and the rest
of the sessions were divided into five phases. The sessions were held two times per week for five
months. The materials for the study included three objects or activities that Adam liked or

The Autobiography Look Me The Eye By John Elder Robison
Courage George Carlin, an American stand–up comedian and author, once said, "I like it when a
flower or a little tuft of grass grows through a crack in the concrete. It 's so f****n ' heroic." The
autobiography Look Me in the Eye by John Elder Robison is a memoir about a man's strange
aloofness towards others, but also the difficulties he has had to over–come and the courage he
needed to get through them. This story gives a glimpse into the life of an Aspergergian– as he likes
to call himself. Aspergers syndrome is a form of autism that affects the ability to effectively
socialize and communicate. This syndrome generated a vast majority of complications all
throughout his life. During his childhood, John is a social outcast. He does not know how to
befriend people, and he is very blunt and rude to his peers. This makes it very difficult for him to
create bonds with people, but he did occasionally become acquainted with the other outcasts such as
his friend named Jeff. Robinson's teenage years were even worse. John was labeled as the "class–
clown" and began to fail school even though he was very smart he just did not care anymore;
consequently, this lead him into the path of dropping out of school. However, after he quit school he
had started working for a small band fixing their EQ amps. This was good for John because it gave
him a chance to interact more with people while making money and traveling. After that, he started
working for successful bands like KISS and Pink

Steven Johnson Syndrome Research Paper
There are many different types of syndromes and disease in the world today. Steven Johnson is one
of them. This Syndrome is a very rare disorder in the world today. Many persons do not have a clue
in which what this serious is or/and why it occurs. The Steven Johnson syndrome is a disorder of
someone's skin or mucous infection. This occurs when the persons take medication(s) that they are
possibly is allergic to. It's really not the medication but it's like the medication is fighting off some
good cells in the body. Steven Johnson Syndrome is a very serious syndrome or infection. It requires
hospitalization and serious care. The syndrome starts off with flu like symptoms. And it gets worst
as time by without no treatment or care. As the syndrome continue to spread and infect the body
your symptoms get worst and others symptoms occurs. Other symptoms are purple–ish or red rashes
and blisters. That is hard to remove or treat. There are many other symptoms dealing with the Steven
Johnson Syndrome before and after you start the rashes. Before the rashes the person or persons
may experience Sour throat, Burning eyes, fever, etc. when the rashes occurs the following occurs:
Facial swelling, Tongue swelling, Skin pain, A red or purple skin rash. You may also my experience
other types of changes to the body ... Show more content on Helpwriting.net ...
The medications are mostly the reasons to way the serious and critical Syndrome occurs. Some of
these medications are as follows: Penicillin, Tylenol, Advil, Motrin, some medications to treat some
Mental illnesses and Radiation therapy. The Steven Johnson Syndrome can also be caused by some
serious infections or disease like Pneumonia, Herpes, HIV, and Hepatitis. The most common
infection or disease is HIV. If the person has a weakened immune system and is HIV+ can increased
the risk of getting the Steven Johnson. Others are like a family trait. If many people in your family
has or had

Cushing's Syndrome Thesis
Cushing's Syndrome
Cushing's syndrome (also known as Cushing's disease) is a disorder of the endocrine system. The
disease is caused by the excess production, or in some cases excess consumption, of the hormone
cortisol. The disease can be caused by tumors on the pituitary gland, adrenal gland complications,
and the usage of corticosteroids. Cushing's syndrome is difficult to diagnose due to its rarity, and
there is no specific test to diagnose it. Symptoms of Cushing's syndrome include obesity, "moon
face", slow growth rate, skin changes, and muscle and bone changes. Cushing's syndrome is
treatable. Some of the treatments include surgery, chemotherapy, and radiation.
Hypothesis Cushing's syndrome is more prevalent in individuals with ... Show more content on
Helpwriting.net ...
The disease most commonly affects individuals that are twenty to fifty years of age. Females make
up about seventy percent of all cases. It is still unclear as to what the genetic cause of Cushing's
syndrome is. In only a few cases have mutations in certain genes led to Cushing's disease. These
types of changes are called somatic mutations. These genes play a role in regulating hormonal
activity. Most cases of Cushing's syndrome, however, occur sporadically. Even though it has been
reported to run in families, the disease has no apparent pattern of inheritance. The various causes
that can ultimately lead to Cushing's syndrome can have different inheritance patterns. For example,
some people may inherit the tendency to cultivate tumors or have adrenal gland

Prevention For Disease Control And Prevention
According to the forecasted statistics of Center for Disease Control and Prevention (2014), the
public health research will most likely provide a better diagnostic resolution to the health concern of
FXS in 2020 (Center for Disease Control and Prevention, 2014). The agency based its claim from
the steady decline of families reporting that they are having a hard time dealing with FXS. Per CDC
(2014), this only means that the public is becoming more aware of this condition. Their participation
contributes to the advancement of knowledge content on this abnormality (Center for Disease
Control and Prevention, 2014). CDC scientists works hard in order to establish preventive services
and interventions to further help out in treating this condition. According to department head, Dr.
Grossee, the challenges in diagnosing FXS remain to be critical, but with the presence of various
measurements that aid in both research and diagnosis of the disorder, different collaborative
procedures are being established which may be accessible and available in the next years to come
(Center for Disease Control and Prevention, 2014).
Treatment for Fragile X Syndrome FRAXXA, one of the leading companies that is in search for a
cure to FXS does its best to extensively study and analyze fragile X syndrome. Although it is true
that there is no cure for fragile X syndrome yet, there are now available procedures and intervention
programs that are meant to control the progress of the condition. These

Prader-Willi Syndrome
Prader–Willi syndrome is a genetic disorder caused by the deletion of part of chromosome 15. This
genetic abnormality affects the hypothalamus which influences growth hormones, sex, thirst, and
hunger and is contributed to developmental delay. Children with Prader–Willi syndrome will
develop hyperphagia. Hyperphagia is a serious eating disorder, and is characterized by extreme
overeating to the point where it becomes life–threatening. Hyperphagia is hard to treat and is the
main trait of Prader–Willi syndrome. It is not clear what causes the onset of hyperphagia as it can
develop at different ages. The study looks at whether the young children's unusual eating habits are
explained by changes in appetite hormones. They found that PWS has three

Summary Of Wonder By Rj Palacio With Auggie
Have you ever had 27 surgeries ? Have you ever HAD to take care of your younger sister? Well
Auggie had 27 surgeries and edward HAD to take care of his little sister. Both Auggie and edward
worked very hard to have what they have. Wonder By RJ Palacio with Auggie is a wonderful book a
heart string puller and you can laugh as well . Edward's Eyes by Patricia MacLachlan With Edward
is definitely are heart string puller with laughs and tears. Edward and Auggie are also very caring
and loving. Auggie and Edward work hard to get what they need and want. Edward and Auggie
Both work hard in alot of things in there book. Edward worked very hard in baseball and also
worked hard in completing a knuckleball. In the book it talked about how he was always

Explain The Extent Of Normal Hair Growth
The extent of normal hair growth differs between people, families, and races. It is somewhat
extensive in the Mediterranean and some Asian subcontinent populations. Too much facial or body
hair growth in a woman is known as hirsutism. There is no absolute margin between the normal hair
growth and hirsutism. Usually, sex hormones affect the hair growth in the moustache, beard, breast,
chest, armpit, the midline of the abdomen, genital area, and the thighs. A type of soft hair (vellus
hair), which is normally present all over the body, is not affected by the sex hormones. If a woman
has excess hair growth over the regions, which contain the sex–hormone dependent hair, it shows
increased male hormone (androgen) production in the ovaries and adrenal glands. This process
commonly occurs due to polycystic ovary syndrome (PCOS) but occasionally other rarer conditions.
Other conditions include an abnormal growth of adrenal glands (congenital adrenal hyperplasia),
Cushing's syndrome, and tumours of the ovary and the adrenal gland.
Androgens are normally known as male hormones. However, both males and females produce
androgens. Men produce androgens in larger amounts compared to women. There are few male
hormones, of which testosterone is the well–known one. Hirsutism can occur due to increased levels
of androgens or raised sensitivity of the hair follicles to normal male hormone levels.
A few women with hirsutism produce excessive androgens. Sometimes, this is because of a medical

Clinician Intervention Case Study
As addressed in the previous section, assessment needs to be very individualized towards the patient
and their specific needs. Therefore, with intervention, the same process and considerations should be
maintained. If a clinician is going to individualize an assessment specifically towards a client, then
in order to work on the areas identified, the intervention plan must reflect the results of the
assessment. Every individual varies greatly, and with Noonan Syndrome, it is no different. Even
though specific characteristics are identified, each patient will present with different degrees and
attributes, if they even present with any at all. Intervention needs to be specifically designed for the
individual and their strengths and weaknesses. ... Show more content on Helpwriting.net ...
The caregiver is a major component of the intervention, and that cannot be forgotten when
determining plans for intervention. The caregivers are going to be the main adults interacting with
the child and ultimately implementing the strategies to excel the development of their child.
Therefore, the SLP needs to make sure that they are addressing the concerns of the caregivers
throughout the intervention process. A clinician should view the caregivers as an important
component in the intervention process, comparable to the client. If the caregiver mentions skills that
they wish their child to improve upon, or want certain issues the child may have addressed, then the
clinician needs to make sure to target those issues and address them accordingly. Secondly,
caregivers are a huge resource that the clinician can use to enhance the productivity of the
intervention. The caregiver can provide insight into the interests of the child, how to interact with
the child, or give the clinician pointers as to what to avoid during interactions. (Ritzman,

How PCOS Changed My Life
The summer before my freshman year, I was diagnosed with Polycystic Ovarian Syndrome (PCOS).
PCOS is an endocrine disorder that is characterized by fatigue, unmanageable weight, infertility,
increased androgen levels, and excess insulin, among others. I was prescribed a medicine called
Metformin, which, while considered a medication for Type 2 diabetics, is effective in treating PCOS
as well. Later I was also put on a birth control pill to regulate my hormones. Throughout the past
three years I have had to learn about nutrition, and specifically a PCOS diet, and exercise and why
my body needs proper nutrition and exercise more than others might. This has been difficult for me
because even though I consider myself active, I had never before worked out with a purpose to be
healthier. ... Show more content on Helpwriting.net ...
This worked really well for me even though my diet did not change much. I was in the best shape of
my life by the time sophomore year started. During this time, my hormone levels were always where
they were supposed to be while on my medication. However, I stopped training in the fall of
sophomore year. Trying to follow an exercise plan is hard for me because I am very much involved
in academics and take every advanced class that I can which means a lot of my time is spent
studying or doing homework. In January of my junior year, my mom and I decided to do Weight
Watchers together. This also worked well for me as an eating plan and I lost twelve pounds in the
two months that I was on the plan. Although my main goal was not to lose weight, but simply to be
healthier, Weight Watchers helped me learn to eat better while still eating the things that I liked.
However, I went to Uganda in Africa for almost two weeks in March and fell off the Weight
Watchers plan. This summer, I am doing Weight Watchers again and am going to use my early
release time this school year to

Personal Narrative: Moving Away From God
I was not exactly thrilled to hear those words, but knew it had come from God. At the time, of
course, we thought the vision was about Miranda. I got on my knees before Kevin and told him I
knew with my entire heart this test was coming back and we needed to be ready. We would have to
walk through this together getting our strength from God. Kevin listened but did not respond.
The next day, I put in the call for the result. Waiting to hear was not my favorite part. Rose waited
with me for about four hours. Finally, I called the nurse and she told me Dr. Endo #1 would have to
give me the results. I knew something was up. When the results were normal, the nurse always told
me. The day passed slowly and no one called. After Kevin ... Show more content on Helpwriting.net
...
However, I agreed to try. The endocrinologist told me to wait to test her. He wanted to check with
the lab to see if the medications she was on for urinary tract infections would affect the test. Also, it
was noted medically now Miranda's blood pressure was high.
I left the office with several orange jugs and many questions. I was not aware Dr. Endo # 1 had
never treated Cushings. He seemed wonderful, but I was bothered. If this disease was so difficult to
diagnose, I wanted people who had dealt with it. I did not have any direction or even know who
might could help her. It was just a concern – not really something I thought I would do anything
about. After all, I rationalized, God had sent us to this endocrinologist and he was relatively local.
I did however want to know if the dex test would be a waste of time if Miranda was not in cycle. As
soon as I went home, I posted a note on the Cushing's bulletin board on the internet. Somebody
responded to me and told me to check with the NIH. They could give me the information I needed. I
had never heard of the NIH before and was not sure what it was. I simply typed NIH and "go" into
the internet. It took me to the National Institute of Health. Although I was not familiar with
anything, I retrieved a phone number after some

Case StudyCushings Essay example
Case Study 78 Cushing's Syndrome
Scenario
You graduated 3 months ago and are working with a home care agency. Included in your caseload is
J.S., a 60–year–old man suffering from chronic obstructive pulmonary disease (COPD) related to
(R/T) cigarette smoking. He has been on home oxygen, 2 L oxygen by nasal cannula (O2/NC), for
several years. Approximately 10 months ago, he was started on chronic oral steroid therapy.
Medications include ipratropium–albuterol (Combivent) inhaler, formoterol (Foradil) inhaler,
dexamethasone (Decadron), digoxin, and furosemide (Lasix). On the way to J.S.'s home, you make
a mental note to check him for signs and symptoms (S/S) of Cushing's syndrome.
Clinical Presentation
Centripedal (truncal) obesity or ... Show more content on Helpwriting.net ...
Prednisone can cause upset stomach. It can have serious side effect with vision problems. If it's not
helping with joint pain then the dose may need altering.
8. Differentiate between the glucocorticoid and mineralocorticoid effects of prednisone.
Mineralocorticoids= The name mineralocorticoid derives from early observations that these
hormones were involved in the retention of sodium, a mineral. The primary endogenous
mineralocorticoid is aldosterone, although a number of other endogenous hormones (including
progesterone and deoxycorticosterone) have mineralocorticoid function. Aldosterone acts on the
kidneys to provide active reabsorption of sodium and an associated passive reabsorption of water, as
well as the active secretion of potassium in the principal cells of the cortical collecting tubule and
active secretion of protons via proton ATPases in the lumenal membrane of the intercalated cells of
the collecting tubule. This in turn results in an increase of blood pressure and blood volume.
Glucocortiocoids= Glucocorticoids (GC) are a class of steroid hormones that bind to the
glucocorticoid receptor, which is present in almost every vertebrate animal cell. GCs are part of the
feedback mechanism in the immune system that turns immune activity (inflammation) down. They
are therefore used in medicine to treat diseases that are caused by an overactive immune system,
such as allergies, asthma, autoimmune diseases and sepsis. GCs have

Prader Willie Syndrome Research Paper
Disability Research Activity
(Prader–Willie Syndrome)
Disability
Prader–Willie Syndrome a rare congenital disorder characterized by learning difficulties, growth
abnormalities, and obsessive eating, caused especially by the absence of certain genes normally
present on the copy of chromosome 15 inherited from the father.
Characteristics & Effects
Short stature
Small hands and feet
An abnormal body composition (reduced lean tissue and increased fat mass)
Developmental delay
Mild to moderate intellectual disability
Characteristic behaviors and psychological problems
Low levels of growth hormone and sex hormones are common
Thyroid function may be impaired
Floppiness and weak muscles that becomes apparent during or shortly after birth
Feeding problems and failure to grow during ... Show more content on Helpwriting.net ...
Replacement of sex hormones during puberty may result in development of adequate secondary sex
characteristics e.g. breasts, pubic hair and a deeper voice.
How it is diagnosed
Genetic testing can be used to check blood for the genetic abnormalities known to cause PWS.
Any suspected diagnosis of PWS is usually made by a physician based on clinical symptoms.
The preferred method of testing is a "methylation analysis," which detects >99% of cases.
A "FISH" (fluorescent in–situ hybridization) test will identify those patients with PWS due to a
deletion, but it will not identify those who have PWS by "UPD" (uniparental disomy) or an
imprinting error.
PWS can be detected before birth if the mother undergoes amniocentesis testing or chorionic villus
sampling but this testing is only recommended if the mother or father is known to have a
chromosome rearrangement, or if they already have a child with PWS.
Incidence in the population
Approximately one out of every 15,000 births.

Males and females equally effected as are all races and ethnicities.
Most common genetic cause of life–threatening childhood obesity.

Johnson Munson Syndrome Analysis
Johnson–Munson syndrome is a rare syndrome identified by missing abnormal vertebrae, fingers
and toes and various deformities of the heart, lungs, intestines, pancreas and intestines. Ophanet a
consortium of European partners defines a condition as rare. In the US population, less than 200,000
people can possibly be affected by Johnson Munson Syndrome or second type of Johnson Munson
syndrome. (Orphanet 2015)
Johnson Munson syndrome will start within the DNA from the formation of the fetus at birth. There
are birth defects that cause the variety of disfiguring parts of the body. There for the limbs may not
be of proper size and these could consist of a toe or finger missing. The toes and fingers can also be
grown together, arms, and legs may not be fully developed. As of today, there is one known risk
factor that has been found within the first year of the child's ... Show more content on
Helpwriting.net ...
A few examples are Home blood pressure hypertension test, heart rate monitors, heart ECG,
cholesterol testing, lung function, bladder testing, urinary tract infection test, home cystitis test,
home kidney test, home urine protein test for the kidney, home prostate cancer test, hormone test,
libido test, menopause testing, andropause test, hepatitis test, liver test, sexually transmitted disease
test, stomach ulcer test, colorectal cancer test kits, fecal occult bleeding test kits, food allergy test,
food intolerance testing, water testing, lead poisoning test and heavy metal poisoning test. There are
also undiagnosed with Johnson Munson disease that include chrohn's disease, celiac disease,
heartburn, ulcerative colitis, inflammatory bowel disease, irritable bowel syndrome, carcinoid
syndrome, and pancreatitis. Looking at Johnson Munson syndrome it can be of use to consider the
disease that might have been misdiagnosed. Although another condition that might be of relevance
to diagnose might exist as well (Right Diagnosis,

Lejeune's Syndrome Research Paper
Genetic Disorder that Gives the Cry of a Cat The genetic disorder named "cri du chat" is a partial
depletion of chromosome 5p. Also known as " Lejeune's syndrome" as first described by Jerome
Lejeune in 1969. The name "cri du chat" is a French term, which means cat–cry or call of the cat,
because of how affected children have a kitten like cry. It affects about 1 in 50 000 children born,
predominantly inherited by females by a 4/3 ratio. Although this particular symptom has been
named after, the symptom of the cat like cry may be lost past age 2. There are other symptoms of
this disorder. Other symptoms may include: Feeding problems; Low weight and growth; Speech
problems and motor delays; Behaviour problems; Abnormal facial features; Mental

Cushing's Syndrome Research Paper
Cushing's syndrome
In this report I will be discussing the Endocrine System, and Cushing's syndrome, a disease that
targets this system. The endocrine system works together with the nervous system to maintain the
body's homeostasis. Although both the nervous system and endocrine system do both help in
maintaining the body's homeostasis the endocrine system responds much slower but its effects last
for longer periods of time. The slow response of the endocrine system is due to the utilizing of
chemical messengers known as hormones that are transported through the bloodstream. These
hormones function by binding to specific receptor sites on target cells, the activation of these target
cells depends on 3 important factors. The first of these factors ... Show more content on
Helpwriting.net ...
The byproducts of the fat and protein breakdown also explains the individual's humps and increase
of fat. Hirsutism also known as abnormal facial/body hair growth (commonly in women) is due to
an increase in androgens (testosterone) which promotes these male characteristics commonly in
female patients. The high blood pressure result from over secretions of mineralocorticoids
(aldosterone) which results in high absorption of sodium and water resulting in high blood pressure
as well as high blood volume commonly associated with edema and hypertension. High blood
glucose levels are due to the increase of glucocorticoids (cortisol) that fails to properly balance out
the effects of

Cushings Syndrome Essay
Cushing's Syndrome
Cushing's Syndrome is a condition that results from chronic exposure to excessive amounts of
glucocorticoids circulating in the blood stream for an extended period of time. The disease was first
reported by Harvey Cushing over one hundred years ago, yet the condition still plagues
endocrinologists today. Reasons for this difficulty include the vast amount of often vague symptoms
that the syndrome presents, most of which are found in a plethora of other conditions as well,
combined with the multiple forms that the condition can manifest itself. Symptoms of Cushings
Syndrome include, but are not limited to, weight gain, hirutism, easy bruising, hypertension, acne,
facial plethora, muscle weakness, striae, depression, ... Show more content on Helpwriting.net ...
With Cushings syndrome, this cycle is disrupted, resulting in an excess of circulating cortisol. There
are multiple mechanisms that can disrupt the cycle and they can be classified as either ACTH–
dependent or ACTH–independent Cushings Syndrome. The most common form of Cushings
Syndome is an ACTH–dependent form called Cushings Disease. This type accounts for two thirds
of cushings syndrome and is the result of either an adenoma or carcinoma on the pituitary gland.
The tumor causes overproduction of ACTH, resulting in increased release of cortisol from the
adrenal gland. ACTH– dependent Cushings Syndrome can also result from ectopic tumors that cause
overproduction of ACTH or CRH. The most frequent is small–cell lung carcinoma (12% of patients
develop Cushings syndrome). A final type of ACTH dependent cushings syndrome is from
exogenous ACTH administration, typically the use of synthetic steroids. ACTH–independent
Cushings Syndrome typically originates from abnormalities of the adrenal gland. Adrenal adenoma
and adrenal carcinoma occur when there is a benign or cancerous tumor on the adrenal gland. These
tumors can cause over production of cortisol, disrupting homeostasis. Other diseases like Carney
complex and McCune Albright syndrome have also been associated with abnormalities of the
adrenal gland, causing overproduction of cortisol. A final form of cushings syndrome is exogenous
glucocorticoid administration.
The treatment of Cushings

Toxic Shock Syndrome Analysis
Every time I purchased tampons I read Toxic Shock Syndrome on the box but never saw the value in
furthering my knowledge about it. However, after a lecture where it was briefly brought up along
with its intense effects, I decided to interest myself in this infection that has repeatedly crossed my
mind. Toxic Shock Syndrome is a dangerous and unstable disease caused by the toxin producing
strains of Staphylococcus aureus and Streptococcus pyogenes (group A streptococcus).1
TSS is notoriously associated with tampon use, which still continues to inflict itself onto young
health women. However, a common misconception has made people believe it can only harm
women and children and shows itself as a skin rash; it can occur in males as well and

Cornelia De Lange Syndrome
Cornelia de Lange Syndrome typically presents with a constellation of distinctive features affecting
several different parts of the body. There is a wide degree of variation between individuals with the
disorder in the presentation and severity of symptoms; however, the features described below
represent a typical presentation. Slow growth during both fetal and post–natal development is a
characteristic feature of the disorder. Approximately 90% or more of patients display delayed
skeletal maturation, and about 50% were noted to have intrauterine growth retardation (2). Because
of this, individuals with Cornelia de Lange syndrome tend to be short in stature, with height and
weight falling below the fifth percentile throughout life (3). ... Show more content on
Helpwriting.net ...
Other limb issues such as small hands (micromelia) and incurved fifth finger (clinodactyly) are
prevalent (3,1). In addition to the above core features, the syndrome tends to have effects on several
major systems of the body. For example, sensorineural hearing loss impacts 80% of children with
CdLS; approximately 40% are severely affected (3). Opthalmological issues, such as myopia (near–
sightedness) and nystagmus are also common. Patients may also have inflammation of the eyelid of
droopy eyelids (ptosis) (1). Neurological issues can include sleep problems and seizures.
Approximately 25% of diagnosed individuals experience seizures (3), which can usually be well
controlled with standard medical intervention (4). Neuroimaging has shown characteristic features
such as enlarged ventricles at the basal cisterns, undergrowth of the brainstem and cerebral vermis,
and atrophied white matter especially in the frotal lobes. High pain tolerance caused by problems
with peripheral neuropathy have also been reported (4). Cornelia de Lange Syndrome can also
include cardiovascular concerns. Congenital heart disease occurs in approximately 25% of
individuals with the disorder. The most common

Angelman Syndrome
There are many diseases and syndromes that occur in the developmental stage of human
development. One of the many syndromes is Angelman syndrome. When this syndrome was first
discovered by Harry Angelman, it was known as "happy puppet syndrome". This syndrome is not
typically diagnosed at birth, but can also be diagnosed from the ages of one to six. This syndrome is
a neuro–genetic disorder that occurs in one in 15,000 people. Because of its rareness, this syndrome
is often misdiagnosed as autism or cerebral palsy. Make thesis– Angelman syndrome is caused by a
defect in the UBE3A gene, has various symptoms, that can be misdiagnosed, and patients will live
with lifelong treatment. The are various causes of Angelman syndrome, but the main cause ... Show
more content on Helpwriting.net ...
Angelman syndrome can be diagnosed within the first year of the life if the abnormalities are
noticed and investigated, but the disorder is more often diagnosed between 1 and 4 years of age as
the child's abnormalities become more clinically apparent (Bevinetto). In order to confirm the
diagnosis, a blood test must be done to look at the child's genetics (Angelman). Then, a combination
of genetic test can reveal the chromosome defects. There are three different defect tests may reveal:
parental DNA pattern, missing chromosome, or gene mutation. Parental DNA pattern test screens for
three of the four genetic defaults that cause this syndrome. To find out if the chromosome is missing
either a fluorescence in situ hybridization (FISH) test or a comparative genomic hybridization test
(CGH) can show if portions of chromosomes are missing. It is rare if Angelman syndrome occurs
with only a gene mutation. This happens when the UBE3A gene is present and active, but mutated.
A UBE3A gene sequencing test is used to look for maternal mutation (Mayo). After the diagnosis is
complete, treatments are discussed with the patient and their

The Symptoms Of Cushing's Syndrome
Cushing's Syndrome
Cushing's Disease or Cushing's Syndrome? Aren't they the same thing? What are they even?
Cushing's disease is a medical condition; a disorder of the pituitary gland causes it to create too
much ACTH (adrenocorticotropic hormone) which in turn leads to overproduction of cortisol.
Cushing's Syndrome is a symptom of Cushing's disease; as well as of other conditions, whether
endogenous (originating from inside the body) or exogenous (originating from outside the body).
Pathophysiology and Etiology
Cushing's Syndrome is the result of overexposure to cortisol, a hormone normally secreted by the
adrenal cortex in a diurnal rhythm, with an increase in times of stress. In Cushing's Syndrome,
cortisol is secreted constantly with no ... Show more content on Helpwriting.net ...
"Other factors that may increase the risk of Cushing's disease include obesity, type 2 diabetes,
poorly controlled blood sugar levels and high blood pressure. While none of these factors are a
direct cause of the condition, they are associated with higher prevalence of it." (Endocrine Society,
2016) Cushing's syndrome is most common in patients on high levels of steroid medications to treat
chronic inflammatory disorders. (Williams, L., & Hopper, P., 2015)
Diagnostic Testing
Suspicion may initially result from the characteristic 'cushingoid' appearance in addition to a history
of taking steroids. Levels of cortisol can be tested from saliva or a 24–hour urine collection. Levels
of ACTH in the blood are also measured, along with potassium. Additional tests may be done to
locate the cause, such as a tumor. (Williams, L., & Hopper, P., 2015)
Complications
If untreated, Cushing's syndrome may result in bone loss leading to fractures, high blood pressure,
frequent or unusual infections, Type 2 diabetes, and loss of muscle mass and strength. (Mayo Clinic
Staff,

Treatments of Fibromyalgia Essay
The treatment of Fibromyalgia should be viewed as a "team approach". Most chronic pain does not
respond to drugs and may require an aggressive use of nonpharmacological therapies or "the rehab
approach". This includes a lifestyle change, physically, mentally, and emotionally. This approach
should include use of a physician, occupational therapist, physical therapist, massage therapist,
chiropractor, an acupuncturist and any specialists, such as a Rheumatologist. Mondell, D. L., &
Wright, P. (2005).
Psychological counseling is recommended early after receiving the diagnosis of Fibromyalgia.
Mainly because it takes many years of visiting doctors and having tests results come back negative
that an individual will begin to think this is ... Show more content on Helpwriting.net ...
Many of these drugs are used temporarily to "reset one's pain control" and are not necessary for long
term use. Wallace, D. J. & Wallace, J.B., (2002)
The most important step in living with fibromyalgia is to control the pain. Pain will severely limit
your quality of life. The first drug of choice is NSAIDs . These include: Advil, Motrin, Ultram,
Darvocet, and Neurotin. Inflammation can be controlled with Corticosteriods. Muscle relaxants and
antispasmodics are used to ward off muscle spasms: Flexeril (the most commonly used), Valium,
Klonopin and Baclofen. Some research with Dopaminergic agents have been done to relieve
Restless Leg syndrome that has been proven to interfere with obtaining restorative sleep, but are
used cautiously because of their side effects (anxiety, combative behavior and weight loss). Other
classes of drugs used for their side effects that promote muscle relaxation and sleep are:
anticonvulsants, and sedative/hypnotics. Claw, D.J., & Wallace, D.J.(2009) In the more severe cases,
opioids are used to control the pain. Of course along with these kinds of meds the patient will need
support for constipation with use of laxatives, such as: Colace or Ducolax. Mondell, D. L., &
Wright, P. (2005). Topical creams to soothe sore muscles and easily purchased over the counter
(Aspercreme, Ben–Gay, and Capsaicin) are recommended to give instant relief to tender spots in
muscles.

Cushing's Syndrome Drug Analysis
The treatment of Cushing's syndrome can be achieved from different drugs found in different
classes. The classes in which these drugs are found is namely; Steroidogenic inhibitors which
consists of drugs such as Metyrapone, Ketoconazole, Etomidate, and Aminoglutethimide;
Adrenolytic agents which consists of Milotane; Neuromodulators of adrenocorticotropic hormone
(ACTH) which consists of Cyproheptadine and Pasireotide; and lastly, Glucocorticoid receptor
blocking agents which consist of Mifepristone. Henceforth, these drugs used in the treatment of
Cushing's syndrome will be outlined demonstrating their usefulness in relieving the problem faced
by patients with this disease. Metyrapone Metyrapone is one of the many drugs used to treat
Cushing's

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