The disorder that is called Cri du Chat Syndrome has known many names. These include, but are not limited to, CdCS, Crying Cat Syndrome, 5p-, 5p minus, amd 5p Deletion Syndrome. It can also be called Monosomy 5p and Lejeune Syndrome. The people that have this disorder show many symptoms, the most recognizable being an underdeveloped larynx, which results in infants producing a high-pitched cry which often sounds like, of all things, a cat. The French name is taken from this symptom; the term Cri du Chat is French for Cry of the Cat (B).
This cry usually is observed in children under the age of 2. Other things that characterize those who carry this disease are less obvious. One could have a small head and mouth, a low birth weight, or weak muscle tone. The eyes may be farther apart, the ears lower, and the face rounder. A child with CdCS often will have a developmental delay, and can have severe intellectual disability (D). Some people born with Cri du Chat also have a heart defect, and respiratory problems are known to occur frequently. Like almost every other genetic disease,
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each specific case is different. One will display different features based on exactly how much of the chromosome is deleted, and exactly where the deletion starts and stops. Also, all of the symptoms that are described are most noticeable at a young age. Many of them, like some of the facial features, may change as a child matures throughout his or her lifetime (A). In 1963, geneticist Jerome Lejeune noticed similar symptoms like the aforementioned in multiple patients. He studied this syndrome and called it Cri du Chat Syndrome (he was a Frenchman), meaning the Cry of the Cat. It is also called Lejeune Syndrome, as many genetic diseases are named after the person who discovers them. As stated on the Genetics Home Reference website, “Cri-du-chat syndrome is caused by a deletion of the end of the short (p) arm of chromosome 5. This chromosomal change is written as 5p-. The size of the deletion varies among affected individuals; studies suggest that larger deletions tend to result in more severe intellectual disability and developmental delay than smaller deletions ("Cri-du-chat Syndrome").” As was mentioned before, each child’s case will have a different part of the chromosome deleted, since it is a mistake made in the process of making new cells. In Cri du Chat, the most obvious is the larynx, but facial features are also affected and in some cases the child develops a heart condition or respiratory problems. Just a small chunk of a chromosome can make a big difference (F). The time when this genetic deletion occurs is during the development of gametes.
Therefore, a child with this disorder does not have to have a parent with the same deletion. More simply put, Cri du Chat Syndrome is very rarely inherited, and more often unrelated to the parents genes at all (D). No one can really be “blamed” for causing the genetic defect in the child. There is actually no good way to prevent a child from getting Cri du Chat, because it occurs in all races. The only group more likely to receive this disease than another is women. For every male case of CdCS, there are 1.39 female cases. This is 0.72 males to every female or about 3:4. Overall, anywhere between 1 in 20 thousand and 1 in 50 thousand people will have the deletion (C). On the brighter side, the mortality rate of this genetic disease is low, only 6-8%, and the chances of survival into adulthood being 92-94%
(E). For those who have Cri du Chat, there are no treatments and no cure. However, there are ways to help. One thing that can be done is treatment for the symptoms. Someone with Cri du Chat can go to physical therapy in order to better cope with the disease. Also motor skill therapy and language therapy are helpful because of the developmental delay in children with 5p-. None of these treatments can undo any damage done by CdCS, but they are important in helping a child to grow up to lead as normal a life as possible (E). Since this discovered 50 years ago, even though it isn’t a well-known condition, many things have changed in these 50 years. Obviously it has become better known in the medical field ever since it has classified with an actual set of symptoms. There have been no major breakthroughs in the medicine for it to be potentially cured, but there are now many proven successful ways to conduct therapies for children with Cri du Chat. There are specific physical therapies, mental therapies, and language therapies. Most kids with CdCS will learn sign language in order to communicate more easily (E). If I were to have this kind of deletion in my DNA, I would want to participate in all of the therapies available. I would want to grow up normally, and learn to be as successful as I can be. Therapies can often become frustrating, especially in the case of genetic diseases, because there are many symptoms to overcome. It could be extremely hard to deal with not being able to communicate like everyone else seems to be able to do, and it would be easy to think this disease unfair. However, the desire to overcome this adversity would definitely outweigh the work, no matter how much work there actually was. To someone who is on the smaller side of the 1 in 20 thousand, I would strongly urge them to enroll in every therapy that can be found, from language to motor skills therapy. It is important to refrain from blaming yourself or others, but instead try your best to channel this energy into the work required to learn, develop, and grow. I would suggest learning sign language, so communication will be easier while taking language therapy. Living with Cri du Chat is all about overcoming the adversity by staying positive and growing and learning as much as you can.
Philippe Petit changed numerous peoples’ thoughts about the Twin Towers when he performed his high wire walk between them in 1974. Before Philippe Petit walked the high wire between the Twin Towers in 1974, people weren’t certain how they felt about the construction of the World Trade Center. After Philippe performed, people began to warm up to the idea of the towers. Philippe Petit walked the high wire between the Twin Towers on August 7, 1974. This event prompted Andrew McMahon to write the song “Platform Fire” about this event for his band, Jack’s Mannequin. This song was not a hit for the band; however, fans of Jack’s Mannequin seem to have a special place in their heart for it.
Symptoms: Up to the age of 1-3 years, affected boys have normal muscles that is they learn to stand and walk later than they are supposed to do and speech may be slow in development. Gowers sign is a sign that can be seen in boys. Hypertrophy of the calf muscles is also a characteristic sign of DMD (Alan E H Emery., 1998). Contractures at the knees and elbows are common and it will lead most boys to use wheelchairs by the age of 10, and end them dead before or at the age of 20. The commonest cause of death is cardiac muscles involvement that will lead to cardiac faliure and subsequentl to respiratory failure (Pryse-Phillips, William E. M. and Murray, T. J., “ A concise textbook Essential Neurology”. 4th ...
It is characterized by normal early growth and development followed by a slowing of development, the loss of purposeful use of the hands, slowed brain and head growth, problems with walking, seizures, and intellectual disability.
Entre Les Murs was an interesting movie about a teacher and his experience for a year of school. Mr. Marin, the French literature teacher the movie follows, has to deal with a racially mixed group of misbehaving students whilst trying to teach them literature. Through out the movie Mr. Marin continually corrects his students on their grammar, as teachers often do. It is understandable why his does this, as his occupation describes and does something that other teachers either should do or are already doing.
In hereditary CJD, the infected person has inherited an abnormal gene due a family history of the disease or takes a test in which their results are positive for a genetic mutation that is associated with Creutzfeldt-Jakob disease. About 5 to 10 percent of cases of Creutzfeldt - Jakob disease in the United States are hereditary and the United Kingdom has a population in the region of 58 million and there are only a few instances of deaths due to genetic CJD in a year.
Cystic fibrosis is one of the most common lethal mutations in humans. The autosomal recessive allele is carried by 1/20 Caucasians, 1/400 couples will have children with the disease, and ¼ children will be afflicted. If untreated, 95% of affected ch ildren will die before age five (Bell, 1996).
The short surrealist film Un Chien Andalou (1929) created by Spanish artists Luis Buñuel and Salvador Dalí stands out in film history as one of the most influential and shocking films of all time. It was one of the first films described by Andre Breton as a true surrealist film (Edwards, 2005). Early surrealists praised the film for defying conventional filmmaking particularly concepts of narrative, they saw it as an assault of commercial filmmaking of the time (Lang, 2012). The film is not linear and the narrative is disjointed, there appears to be no narrative progression throughout the film, though many critics have searched for one. Narrative structure and making sense of a film tend to be two concepts that come hand in hand however with the ambiguous narrative it is not clear whether any meaning can be drawn from the film. Buñuel admitted “No idea or image that might lend itself to a rational explanation of any kind would be accepted” (Buñuel, 1983), therefore the filmmaker’s intentions from the outset was to take the viewer on an illogical journey. Buñuel and Dalí came up with the ideas for the film out of their own dreams
Since the gene for HD is dominant, there is a 50% chance of a sufferer's
Rett syndrome is a particular neurological disorder that is first found in the first few months of life and typically almost always diagnosed in girls, but can be seen in boys, rarely, but it is possible (International Rett Syndrome Foundation, 2014). Rett syndrome symptoms soon appear after an early period of regular or near regular development until six to eighteen months of life, when there is a slowing down or stopping of skills. A period of backsliding then follows when the young female child loses communication skills and purposeful use of her hands. Soon, the known physical handicaps became visible such as washing hands, difficulty walking, and head growth abnormalities, the head will grow slower than it supposed to. More symptoms that may be brought on by the syndrome can include seizures and rapid and/or slow breathing repetitions while the child is not sleep. In the younger years of childlife, there may be a time of separation or withdrawal when she is irritable and cries inconsolably. With time, motor skill problems may increase, but in generally, the irritability the child endures lessens and eye contact and communication improve (International Rett Syndrome Foundation, 2014). According to rettsyndrome.org, Rett syndrome is caused by mutations on the X chromosome on a gene called MECP2. There are more than 200 different mutations found on the MECP2 gene. Most of these mutations are found in eight different spots. It strikes all racial and ethnic groups, and occurs worldwide in 1 of every 10,000 to 23,000 female births (Rett Syndrome Foundation, 2014). It is not a degenerative disorder, saying that this syndrome does not cause the body or the mind of the infected child to become weaker. It also causes problems in brai...
According to Hassold and Sherman (2002), the probability of giving birth to a child with DS is not linked to any race, ethnicity, socioeconomic status or geographic location. Maternal age seems to be the only etiological factor that may cause DS. Some characteristics of DS include: deep folds at the corners of the eyes, hypotonia, short stature, flexible joints, small oral cavity and heart defects (Taylor, Richards, & Brady, 2005). Most individuals with DS have a moderate intellectual disability, although there is a range of disability, from severe to high functioning (IQ above 70). Since DS is a birth defect and not a disease, there are no treatment options.
The neurological disorder is generally diagnosed in children aged between six and twelve years, the condition affecting boys three times more often than girls (Hamilton, 2002; Gardner, 2008). Despite the fact that DCD affects roughly 6.4 percent of children, few individuals are familiar with the condition (Hamilton, 2002). In fact, a study by Kirby, Davies, & Bryant (2005) revealed that only 54.3% of teachers and 26.7% of general practitioners could accurately define DCD (p. 124). In response, the condition will be briefly outlined here.
HISTORY St Sernin was built in Toulouse, France and was named after Saint Saturninus, the first bishop of Toulouse. The St Sernin chapel was built in the twelfth century and is the largest Romanesque building in Europe. The chapel takes the shape of a crucifix. It is thought that St Sernin was the model for the Cathedral of Santiago de Compostela. The Chapel also played a small role in unifying France during the crusades of the time.
The term Pervasive Developmental Disorder (PDD) refers a group of disorders that pertain to one’s communication, social, and developmental skills. Symptoms can be detected as early as infancy, as some cases are identified before the age of three. Children or toddlers with PDD may show difficulty relating to others and often have trouble using and understanding language. In addition, they may have unusual behavior patterns and demonstrate resistance during a change in their routine. PDD is a general category that includes Autism, Asperger’s Syndrome, Rett Syndrome, Childhood Disintegrative Disorder, and PDD-NOS. These disorders exhibit a range of patterns and characteristics, proving that no child is the same. While one child may be high-functioning, another may completely lack language skills.
According to article entitled “ Marriage Quality” published by Comstock and Sterzizweick in 1990 states that “it is not absence or presence of problem which determines the marriage quality but it is how successful to handle conflicts, that determine marital relationship quality.
Effective communication is a key concept for any professional working or interacting with the general public. Communication in any profession can impact the successfulness of both workplace and client relationships. To gain a better understanding of the concept of effective communication, I conducted an interviewed with a client services officer from the police service. The following essay will discuss and reflect on the context of that interview, and draw conclusions on how I can better my communication skills for my future career as a Nutritionist.