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Lack of sleep - Lack of learning in Williams Syndrome. We'll assume you're ok with this, but you
can opt-out if you wish. This is only when difficult tasks are reinforced with music. The school
promotes leading technological subjects: biotechnology, robotics and computer science—cyber. This
paper seeks to establish the paradoxical traits that individuals with Williams Syndrome seemed to
have; present common psychological features and find patterns among such psychological
manifestations. A Gloria Lenhoff, for example, can't add 5 plus 4, but would remember more than
1,000 songs. In early development the overlap between disorders in terms of social communication
difficulties can be particularly apparent. A special genetic test called fluorescein-in-situ hybridization
can be used to confirm the diagnosis. While up to a half of those with the disorder have
cardiovascular problems, the focus for psychologists is on cognitive and behavioural issues. This is
100% legal. You may not submit downloaded papers as your own, that is cheating. Also you.
Boasting an impressive range of designs, they will support your presentations with inspiring
background photos or videos that support your themes, set the right mood, enhance your credibility
and inspire your audiences. They have a unique strength in their expressive language skills, and are
extremely polite. Dr. Barak conducted his post-doctorate research at MIT, where he studied neuro-
genetic syndromes, such as autism and Williams syndrome. It has millions of presentations already
uploaded and available with 1,000s more being uploaded by its users every day. PrevalenceThe
occurrence of William's syndrome is estimated to be 1 in 20,000 live births. I know it’s the only thing
that saved my life.” - 1972. Tennessee williams. Born: Thomas Lanier Williams March 26, 1911 in
Mississippi Moved to St. Noa and Roi took an active part in various projects in Dr. Boaz Barak’s lab
as part of the Alpha program of Tel Aviv University for Youth. It can occur in all ethnic groups and
has been identified in countries throughout the world (williams-syndrome.org). Just like autism, this
syndrome is a developmental disorder commonly described as having difficulties in integrating
perceptual features, i.e. binding spatially separate elements into a whole. (Grice, et al. 2001). We
performed a novel study in our lab that demonstrated that the lack of a gene called Gtf2i may play a
role in Williams syndrome. As a result, almost invariably the same set of about 20 genes is deleted
from one copy of chromosome seven (Science Daily, 2006). William syndrome is a rare, genetically
based syndrome in which around 25 genes are deleted on one copy of chromosome 7. Proteins affect
the activity of brain cells, including nerve cells, therefore affecting the way signals are sent in the
brain. There are several cognitive domains that are problematic in both disorders. Retrieved May 2,
2008 from williams-syndrome.org Website. A very unique characteristic of Williams syndrome is an
affinity to music and often, people with Williams syndrome are naturally drawn to music. Twenty
missing genes can have a devastating effect on the lives of people. To browse Academia.edu and the
wider internet faster and more securely, please take a few seconds to upgrade your browser. We
found that fixing the damage to the myelin was also sufficient to fix the increased social behaviors.
We gave this drug to our model mice and control mice to test whether it helped mice lacking Gtf2i
improve their neural conductivity and, as a result, their motor skills and social behavior. Elastin is
very important for the strength and flexibility of blood vessels.
Among WS people are those who have increased levels of musicality, but there are also those who
are not. Winner of the Standing Ovation Award for “Best PowerPoint Templates” from Presentations
Magazine. It does not absolutely apply to all of them, however, but for most of them, music can help
overcome their difficulties in life. Expand 1,110 Save Cytoarchitectonic anomalies in a genetically
based disorder: Williams syndrome. A. Galaburda P. Wang U. Bellugi M. Rossen Medicine
Neuroreport 1994 TLDR Findings in a patient with Williams syndrome suggest that brain anomalies
may relate to the extreme visuospatial deficit in WS, the dysregulation of apoptotic cell death, and
the genetic basis of WS, a hemizygous deletion including the elastin locus on chromosome 7. Twenty
missing genes can have a devastating effect on the lives of people. As a result, the cognitive deficits
find many with Williams syndrome having so vague a concept of space that even as adults they will
fail at six-piece jigsaw puzzles, easily get lost, draw like a preschooler and struggle to replicate a
simple T or X shape built with a half-dozen building blocks. The absence of Gtf2i is correlated with
the social disorders of the syndrome. The use, distribution or reproduction in other forums is
permitted, provided the original author(s) and the copyright owner(s) are credited and that the
original publication in this journal is cited, in accordance with accepted academic practice. A child's
musicality can potentially be brought out by circumstances, and thus affected by their educational
experiences. The non-uniformity in the cognitive, neuromorphological and neurophysiological
domains of WMS make it a compelling model for elucidating the relationships between cognition,
the brain and, ultimately, the genes. In this basic sense the disorders seem like polar opposites. The
New York Times. July 8, 2007. Retrieved May 3, 2008, from. Additionally, model mice showed
proper social preference in the social preference test. Thought you might appreciate this item(s) I saw
in Current Opinion in Psychiatry. When that strand joins another from the other parent to eventually
form an embryo, the segment of the DNA missing those 25 genes can't do its work. Noa and Roi
took an active part in various projects in Dr. Boaz Barak’s lab as part of the Alpha program of Tel
Aviv University for Youth. Williams syndrome is a rare genetic disorder caused by the deletion of
the long arm of chromosome 7. But the mechanism behind this gene influences excessive friendliness
was not fully understood until more recently. Individuals with the disorder are often socially fearless
and can be impulsive in social interactions, even with strangers. Specifically, according to (Bellugi et
al. 1999), a genetic hallmark of WS -. This paper looks into what Williams syndrome is, the
symptoms, how it affects the brain, and mainly the strong connection to music that these patients
have. You also have the option to opt-out of these cookies. While up to a half of those with the
disorder have cardiovascular problems, the focus for psychologists is on cognitive and behavioural
issues. In this case, our model mice lacked the Gtf2i gene in neurons in the front of the brain.
Williams Syndrome makes the daily life of children at risk as they may suffer from spatial relations,
abstract and number reasoning. However, specialist provision is rare and intervention trials are almost
nonexistent. We should also mention that our model mice preferred creating more interactions with
mice that were “strangers” than with an inanimate object compared to control mice. Lack of sleep -
Lack of learning in Williams Syndrome. This explains why a diagnosis of WS is sometimes made
during the first few days of life, and other times, not until much later. We wanted to check whether
erasing the Gtf2i gene from nerve cells in the frontal brain is enough to cause those structural
problems. The weight of the brain and the thickness of the brain’s cortex were significantly lower in
1 month-old mice without Gtf2i compared to control mice with the Gtf2i gene.
We also share information about your use of our site with our social media, advertising and analytics
partners. For more information, please refer to our Privacy Policy. Identified more than 40 years ago,
Williams syndrome arises from a faulty recombination event during the development of sperm or egg
cells. Without myelin, electrical signals pass through axons improperly and damage occurs in the
central nervous system, leading to a functional problem, which could express for example in
inadequate behaviors. Despite many technological advances, we still know little about how the.
Some individuals can develop very specific interests that can dominate their thoughts and up to 95%
have a specific over-sensitivity to sound, called hyperacusis. Our new CrystalGraphics Chart and
Diagram Slides for PowerPoint is a collection of over 1000 impressively designed data-driven chart
and editable diagram s guaranteed to impress any audience. This explains why a diagnosis of WS is
sometimes made during the first few days of life, and other times, not until much later. It does not
absolutely apply to all of them, however, but for most of them, music can help overcome their
difficulties in life. This finding, which shows the influence of Gtf2i gene deletion on myelin, opens a
new door for finding new treatments to Williams syndrome. Thomas had fun at the park with his
twin Attended St. Baseball is played on a diamond field. 4. Things you can find in math. If you
continue to use this site we will assume that you are happy with it. We found that the model mice
with deleted Gtf2i showed abnormal behaviors similar to those seen in Williams syndrome, including
damage to the brain’s structure, gentle motor skills, and increased levels of friendliness and non-
social stress ( Figure 1 ). The typical problems they deal with are both cognitive and behavioral
including. Additionally, we know that both disorders are associated with sensory processing
difficulties, heightened anxieties and repetitive behaviours or restrictive interests. It can occur in all
ethnic groups and has been identified in countries throughout the world (williams-syndrome.org).
Just like autism, this syndrome is a developmental disorder commonly described as having
difficulties in integrating perceptual features, i.e. binding spatially separate elements into a whole.
(Grice, et al. 2001). More than the general population, individuals with WS seem to have a higher
rate of musicality, and in some instances musical ability. The average IQ is in the mildly, mentally
retarded range, however, some individuals have a more severe impairment and there are few who
have normal intelligence. Individuals with Williams syndrome have a very endearing personality.
Part A 2004 TLDR Comparisons among the groups at different ages revealed that hypersociability is
evident even among very young children withWS, and, significantly, children with WS exceed
children with Down syndrome with respect to Global Sociability and Approach Strangers in every
age group. Among WS people are those who have increased levels of musicality, but there are also
those who are not. This is what is true with people who have Williams Syndrome (WS). Winner of
the Standing Ovation Award for “Best PowerPoint Templates” from Presentations Magazine.
Scientists place them as mentally retarded with about 95% with IQs in the mild to moderate range
(Bellugi et al. 2000). These individuals also tend to have limited writing and arithmetic skills. This is
only when difficult tasks are reinforced with music. Dobbs (2007) further said that for lack of
abstract thinking skills -. The absence of Gtf2i is correlated with the social disorders of the syndrome.
When I arrived at university, I again chose biology, but I very quickly became interested in the brain
and chose courses related to that topic. They are typically unafraid of strangers and show a greater
interest in contact with adults than with their peers.
A special genetic test called fluorescein-in-situ hybridization can be used to confirm the diagnosis.
The New York Times. July 8, 2007. Retrieved May 3, 2008, from. However, specialist provision is
rare and intervention trials are almost nonexistent. In one report, it exhibits that the development of a
highly sociable nature in Williams Syndrome is said to be developed early on in life, where their
hypersociability relegates patterns of excessive efforts to establish and maintain social contact,
despite the lack of cooperation on the other end of the interaction. And, best of all, it is completely
free and easy to use. It is known to occur equally in males and females and is a lifelong
developmental disorder. In music, for example, he may be able to excel if given the right preparation
(williams-syndrome.org, 2008). We gave this drug to our model mice and control mice to test
whether it helped mice lacking Gtf2i improve their neural conductivity and, as a result, their motor
skills and social behavior. Williams Syndrome makes the daily life of children at risk as they may
suffer from spatial relations, abstract and number reasoning. Noa, 17, is studying chemistry and
biotechnology at Ohel Shem High School in Ramat Gan. This category only includes cookies that
ensures basic functionalities and security features of the website. We also found that 19% of the
genes that were expressed differently in people with Williams syndrome compared to the control
group were related to myelin. Elastin is very important for the strength and flexibility of blood
vessels. INTERNATIONAL WILLIAMS SYNDROME SYMPOSIUM 25th June 200 5, Fonyod.
Mental health problems, especially related to anxiety, often become an increasing challenge from
adolescence onwards. And a Meghan Finn can't tell left from right, but studies music in college
(CBS News, 2004). Normally the two strands part cleanly, like a zipper's two halves. Their
superficially good speech can lead to educational and other services failing to understand the true
extent of impairments or the need for specialist support. This is what is true with people who have
Williams Syndrome (WS). All systems in the body should be evaluated since no two individuals with
Williams Syndrome are alike. Expand 114 Save Bridging cognition, the brain and molecular genetics:
evidence from Williams syndrome U. Bellugi L. Lichtenberger D. Mills A. Galaburda J. Korenberg
Biology, Medicine Trends in Neurosciences 1999 346 PDF Save Enlarged cerebellar vermis in
Williams syndrome. J. Schmitt S. Eliez I. S. Warsofsky U. Bellugi A. Reiss Medicine Journal of
psychiatric research 2001 82 PDF Save IV. Williams syndrome is a rare genetic disorder caused by
the deletion of the long arm of chromosome 7. Without myelin, electrical signals pass through axons
improperly and damage occurs in the central nervous system, leading to a functional problem, which
could express for example in inadequate behaviors. Most of these genes are the same genes that were
affected in our model mice. But the mechanism behind this gene influences excessive friendliness
was not fully understood until more recently. Retrieved May 2, 2008 from williams-syndrome.org
Website. We interpreted the behavior of model mice as a preference for performing increased social
behavior. The average IQ is in the mildly, mentally retarded range, however, some individuals have a
more severe impairment and there are few who have normal intelligence. But opting out of some of
these cookies may affect your browsing experience. Thought you might appreciate this item(s) I saw
in Current Opinion in Psychiatry.
Educating physicians, therapists and educators is imperative. However, this description does not
emphasise the profile of sensitivities and heightened awareness that occurs alongside extensive
difficulties. After that, I went on an interview with Dr. Barak and was very excited about the
research topics in his lab, so I started my Ph.D. there. In Dr. Barak’s lab, I also learned about the
Alpha program, in which I help high school students conduct research projects with me in the lab.
For this reason, it is very important to have a thorough Music therapy assessment performed on the
child with Williams syndrome. But this description doesn’t capture the vast variability seen in both
groups. Williams Syndrome makes the daily life of children at risk as they may suffer from spatial
relations, abstract and number reasoning. We also saw similar results in tissues from humans with
Williams syndrome. Keating Medicine Nature Genetics 1993 TLDR Hemizygosity at the elastin
locus is identified using genetic analyses in four familial and five sporadic cases of Williams
syndrome, indicating that deletions involving oneElastin allele cause WS and implicate elast in
hemizygosa in the pathogenesis of the disease. This behavior is opposite to that seen in autism
(Bellugi, et al. 1999). This is the same observation noted in Science Daily (2006) that reported WS
individuals as capable of remembering names and faces with ease and showing strong empathy and
have fluent and exceptionally expressive language. But opting out of some of these cookies may
affect your browsing experience. The use, distribution or reproduction in other forums is permitted,
provided the original author(s) and the copyright owner(s) are credited and that the original
publication in this journal is cited, in accordance with accepted academic practice. Noa, 17, is
studying chemistry and biotechnology at Ohel Shem High School in Ramat Gan. I know it’s the only
thing that saved my life.” - 1972. Tennessee williams. Born: Thomas Lanier Williams March 26, 1911
in Mississippi Moved to St. The non-uniformity in the cognitive, neuromorphological and
neurophysiological domains of WMS make it a compelling model for elucidating the relationships
between cognition, the brain and, ultimately, the genes. There is a drug called 4-AP that is known to
improve neural conductivity. In this basic sense the disorders seem like polar opposites. We wanted
to check whether erasing the Gtf2i gene from nerve cells in the frontal brain is enough to cause those
structural problems. The weight of the brain and the thickness of the brain’s cortex were significantly
lower in 1 month-old mice without Gtf2i compared to control mice with the Gtf2i gene. Mild Mental
Retardation Related Communication Disorders Focused on Children Introduction Mental
retardation, in other words, intellectual disability, is a term used for description of intelligence that is
below average and impairment of the adaptive functioning of the individual arising during the period
of development, from conception to 18 years of age. The absence of Gtf2i is correlated with the
social disorders of the syndrome. It is affects a child's growth, physical appearance, and cognitive
development. It has millions of presentations already uploaded and available with 1,000s more being
uploaded by its users every day. Morley Safer Reports On People Diagnosed With Williams
Syndrome. 60MinutesII. July 28, 2004. Retrieved May 3, 2008, from. Normally the two strands part
cleanly, like a zipper's two halves. This problem can lead to heart failure if not treated. A child's
musicality can potentially be brought out by circumstances, and thus affected by their educational
experiences. PrevalenceThe occurrence of William's syndrome is estimated to be 1 in 20,000 live
births. However, with WMS, there are differential abnormalities (Grice et al. 2001). They do not
approximate this figure. In other words, these are people born with defects and yet, they have plus
factors going for them, musicality for one. Identified more than 40 years ago, Williams syndrome
arises from a faulty recombination event during the development of sperm or egg cells. The brains of
people with Williams syndrome are on average 15 percent smaller than normal.
But the mechanism behind this gene influences excessive friendliness was not fully understood until
more recently. Individuals with Williams syndrome have a very endearing personality. While up to a
half of those with the disorder have cardiovascular problems, the focus for psychologists is on
cognitive and behavioural issues. Among WS people are those who have increased levels of
musicality, but there are also those who are not. In other words, these are people born with defects
and yet, they have plus factors going for them, musicality for one. It was also found that among
those with Williams syndrome, there are more who have perfect pitch than among individuals in the
general population. Educating the child with WS when it comes to music may be interesting as well
as challenging. Despite averaging an IQ score of 60, many possess a great memory for songs, an
uncanny sense of rhythm, and sensitive sense of hearing that can differentiate hair line differences
between humming sounds (Science Daily, 2006). As a result, the cognitive deficits find many with
Williams syndrome having so vague a concept of space that even as adults they will fail at six-piece
jigsaw puzzles, easily get lost, draw like a preschooler and struggle to replicate a simple T or X
shape built with a half-dozen building blocks. We should also mention that our model mice preferred
creating more interactions with mice that were “strangers” than with an inanimate object compared
to control mice. Most young children with Williams syndrome are described as having similar facial
features. For more information, please refer to our Privacy Policy. Morley Safer Reports On People
Diagnosed With Williams Syndrome. 60MinutesII. July 28, 2004. Retrieved May 3, 2008, from.
Distractibility is a common problem in mid-childhood, which appears to get better as the children get
older (williams-syndrome.org). They tend to be very interested in other people, have outgoing
personalities, and may have other problems like attention deficit disorder, phobias, and anxiety. Since
the average I.Q. is 100, this leaves most people with Williams with I.Q.'s in the 60s. Though some
can hold simple jobs, they require assistance managing their lives. Thus, inappropriate social
behaviours can significantly increase the risk of social exclusion and vulnerability to abuse. William's
syndrome is a complex genetic disorder that results in cardiovascular, connective tissue and
neurodevelopmental deficits. The job of neurons is to receive electrical and chemical signals and
transfer them to other nerve cells. If so, share your PPT presentation slides online with
PowerShow.com. It's FREE. They'll give your presentations a professional, memorable appearance -
the kind of sophisticated look that today's audiences expect. Korenberg Medicine, Biology Genetics
in Medicine 2003 TLDR Combining the molecular analysis with the cognitive results suggest that the
genes GTF2IRD1 andGTF2I contribute to deficits on visual spatial functioning. Dr. P. Sumitha
Hemavathy(PT) will helps your child by treating them on regular monitoring and enhances your
child's strengths and abilities. But people with Williams syndrome are more likely to be overly
friendly and lack so-called “stranger danger”. We also found that 19% of the genes that were
expressed differently in people with Williams syndrome compared to the control group were related
to myelin. This study identifies an important role of Gft2i expression in nerve cells, a crucial role for
the development of oligodendrocytes and keeping proper myelin, and that the absence of these gene
could contribute to some of the symptoms related to Williams syndrome. William syndrome Your
name The name of the course Your The Date Abstract William syndrome is a disease occurring due to
the missing of gene in the chromosome 7 of human body. Knowledge of syndrome-specific
characteristics as well as cross-syndrome features of cognition and behaviour throughout
development will allow us to improve current interventions and develop support strategies for
individuals with the disorder and their families. You would most likely be startled, cross to the other
side of the street, and possibly even call the police. There are in fact stories about these children
suddenly composing songs (New York Times, 2002).