Cri+du+chat

Cri du chat

Cri du chat, which is also commonly known as the 5p- syndrome, is a chromosomal condition, which is caused by the deletion of part of the 5th chromosome. The size of deletion varies on the individual. When the deletion is larger, the symptoms of the person are much more visible and severe, while as if there is a smaller deletion, the symptoms are obviously not as bad. Most of the cases of Cri du Chat are not inherited, they occur randomly. It is believed that the majority of Cri du chat cases occur during the development of the egg or sperm. Only a small amount of the cases occur when the parents pass a different, rearranged form of the chromosome down to their child. Moreover, it is common for an individual with Cri du Chat to be mentally retarded, in other words, suffer intellectually. However, over time, most people with this disorder are able to learn enough verbal skills to be able to communicate with other people. Many families who have children with Cri du Chat go through genetic testing, this way they can learn if they are carriers of the gene and whether or not it is recommended to continue giving birth to children.

The symptoms of the people have Cri du chat are:


 * Cry that is high pitched (where the name comes from)
 * Downward slant towards the eyes
 * Low birth weight and slow birth
 * Low-set or abnormally shaped ears


 * Mental retardation (intellectual disability)
 * Partial webbing or fusing of fingers or toes
 * Single line in the palm of the hand
 * Skin tags just in front of the ear
 * Slow or incomplete development of motor skills
 * Small head
 * Small jaw
 * Wide-set eyes


 * Benefits:**

When one hears about a genetic disorder like Cri du Chat, the last thing that anyone would think is that there are any benefits to the disease. Well, believe it or not, there are. Firstly, this is a disease that is very easy to identify, as the symptoms are extremely unique. For instance, the cat-like cry, which is where the disease gets its name from, is a symptom only people with Cri du Chat will have. Additionally, if you cannot tell from the symptoms, a karyotype test, which consists in taking a blood sample from the patient and you will give you answers on what is going on with your child in as quickly as a week. This is quite simple compared to the long and complicated process which other diseases need to go through in order to discover whether or not they have the a genetic condition. Furthermore, Cri du Chat is one of the few genetic diseases in which the person affected can end up overcoming the symptoms. As they get older, the cat-like cry begins to fade off and not be as noticeable. With constant therapy, the individuals may be able to communicate better with normal people and try to blend into the normal world even though it will be difficult. This is one of the diseases in which it is very rare that the individual dies early on. Less than 10% of the people with Cri du Chat, will end up dying of this genetic condition.


 * Limitations:**

On the other hand, there are quite a few limitations to having this disease. To begin with, without having any sort of therapy, it will be very hard for the individual with Cri du Chat to be able to communicate and associate themselves with the people in the normal world. Also, as the majority of the people with this disease suffer mental retardation and intellectual disabilities, it makes it quite hard for them to ever be able to excel at any one thing. Unfortunately, like any other issue in our world, science and technology face a few limitations on how people should deal with this condition. For starters, there is not an exact treatment for this disease, individuals can only go through therapy, but there is no type of guarantee that they will be 100 % cured from just this. Also, up until now it has not been a disease that is preventable. This is because, this mutation takes place while the embryo is developing, meaning that this is a disease that is not able to be prevented upon birth.

**Social Effect:**

People with Cri du Chat, will most likely have a very difficult time being socially accepted. To begin with, it is very likely that since they are little, they are placed into schools with other people who are in the same situation as them, meaning they also have this genetic disorder. This is because the majority of individuals with Cri du Chat haveintellectual disabilities and will take longer learning than a person who does not have any genetic conditions. Consequently, they willbeaccustomed to only socializing with people just like them, which further separates them from society. Also, people with Cri du Chat have issues communicating with normal people, as they have trouble talking and vocalizing due to this deficiency. Indeed, people with Cri du Chat will end up living a life that is apart from the one which normal people live, as they will never be able to be like them or look like them, even if their symptoms improve, thus making it extremely difficult to be accepted.


 * Economic Effect:**

Treatment for a person with Cri du Chat will most definitely be a large expense for their family. People, who have this genetic condition, normally will have to go through physical therapy and speech therapy in order for their symptoms to not be as severe and try to live a normal life as much as possible. Going through therapy allows individuals to improve their language skills and fine motor skills. The issue is, good therapy costs money. Individuals would have to go through both types of therapies at least three times a week. One session with a good therapist will cost you a minimum of $100, and if you multiply that by 3, you end up spending $300 a week on only one form of therapy. If you include the second form of therapy, one would end up spending $600 a week. This means that by month, families could be spending up to about $2400 only on therapy. That is a very large expense and if one does not have the money, it makes Cri du Chat a very difficult disease to treat. A family, may not have the money left for other essential necessities as it is all being spent on treating their child.



**Works Cited** “Cri-du-chat syndrome.” //Genetics Home Reference//. N.p., n.d. Web. 12 Mar. 2012. . Medscape. “Physical Medicine & Rehabilitation .” //Medscape//. N.p., n.d. Web. 12 Mar. 2012. . Pituch, Keenan A. “Educational Priorities for Children with Cri-Du-Chat Syndrome.” //Pub Med Central//. N.p., n.d. Web. 12 Mar. 2012. . Pub Med Health. “Cri du chat syndrome.” //Pub Med Health//. N.p., n.d. Web. 12 Mar. 2012. . The University of Utah. “Cri-du-Chat Syndrom.” //Learn Genetics//. N.p., n.d. Web. 12 Mar. 2012. . WebMD. “Karyotype Test .” //WebMD//. N.p., n.d. Web. 12 Mar. 2012. .