Cri du chat

Cri Du Chat is a rare genetic mutation that is the result of a partial deletion in the short arm of chromosome 5. This deletion causes mental retardation, mild facial abnormalities, anomalies of dermal ridge patterns, heart malformations, a failure to thrive and a high-pitched cry that resembes to that of a cat ("cri-du-chat syndrome").

What causes cri du chat?
This is a karyotype for a patient with the cri du chat syndrome. As you can observe, there is a partial deletion in one of the arms of the 5th chromosome.

The ‘Cri du Chat’ syndrome is caused by a partial deletion in the short arm of chromosome 5. The cause for this partial deletion is unknown, and it is thought to be a spontaneous event that occurs throughout the formation of the reproductive cells during fetal development (“Cri du chat syndrome.”).There are two different possible deletions, a deletion of 5.p.15.3 and a deletion of 5p.15.2, each of these deletions encompass different symptoms. If there is a deletion of 5p.15.3, the individual will have the characteristic catlike cry which gave the name to the syndrome. This catlike cry is caused by structural abnormalities in the larynx. However, they are not only caused by this malformation, but additionally by a malformation in the brain that is present in patients with the cri du chat syndrome. A deletion of 5p.15.2 results in the individual having a number of different symptoms, such as mild facial abnormalities, heart malformations, a failure to thrive, and, to an extent, mental retardation (“Pathophysiology”). Cri du chat is not an inherited disease, and the people affected usually have no previous history of the syndrome in their family. (“Cri-du-chat syndrome.”)

What are some advantages and disadvantages science faces regarding the identification or treatment of this condition?

As hard as it might be to imagine a syndrome such as this having any sort of benefits, when compared to other genetic mutations, we can identify a variety of different advantages of the cri du chat syndrome.
Brain damage occurs during the embryonal stage, and there is no way to prevent or treat this condition yet.

To begin with, it is very easy to identify this genetic mutation. Unlike other conditions were thorough genetic testing is necessary to identify the syndrome, Cri Du Chat is easy to identify due to its unique symptoms, especially the unique catlike cry that gave the syndrome its name. If a specific diagnosis cannot be made immediately, only a simple karyotype analysis is necessary in order to find out what exactly the patient has (“Cri du chat syndrome.”). A karyotype test is just like a simple blood test, and it only takes one week before the patient knows what exactly is wrong within his or her chromosomes. Additionally, this condition is not usually terminal. The mortality rate in patients who have Cri Du Chat is only between 6 and 8 percent (“Epidemiology”). The syndrome gets weaker over time, and becomes less noticeable. For example, the catlike cry can barely be noticed as the individual becomes older. Additionally, there is a slim possibility that a patient overcomes the syndromes of the condition and can reach his or her full potential. (“Epidemiology”)

However, as in any other condition, science faces a number of limitations regarding how to deal with this genetic mutation, as any possible treatment ,both after birth and preventive, is still unknown. Any type of treatment for Cri Du Chat is still unknown, as we are limited by today's technology. The cerebral damage which is caused by the genetic mutation occurs during the early stages of the embryonal development, thus, it is currently impossible to treat after birth (“Cri du chat syndrome.”). Moreover, the patients with the disease will have trouble adapting to society because they tend to have a difficulty with language and communication. While this depends on each individual case, it is also very likely that the patient will be born with some kind of mental retardation, which will make it very difficult for the individual to thrive

How is this genetic mutation and its patients affected by external factors?

Individuals who have this condition can be easily recognized due to their facial features.
Individuals who suffer from the Cri Du Chat syndrome have a large probability of being excluded from society because they have trouble communicating with other people and they are usually separated from what we would call normal people since an early age. It is common for parents to place children who suffered from the 5- syndrome in schools and institutions that were meant for kids who had suffered severe brain damage. However, this further separates the kid from society, and it has been proven that they can adapt better to society if they are raised in a typical family setting. Individuals who have 5p- will always have trouble communicating, and it is very difficult for them to communicate with people due to this difficulty. This causes their exclusion from society, and they are forced to live, to an extent, separate from society.

Cri Du Chat is an economical burden on the patients and their families due to the constant therapy the patient must have during childhood, and their inability to work on a job that pays a good salary due to their mental retardation and their inability to communicate. First of all, once a child is born, he must have intensive speech and physical therapy to make sure that the symptoms weaken over time. Speech therapy can cost up to $100 per session, and, due to their difficulty with language, the children may need up to three sessions per week (Speechville). Additionally, physical therapy can also cost up to $100 per session, and children usually need about two sessions per week (“So How Much Did My Physical Therapy Cost? .”). This can sum up to a maximum of $500 per week, or $2000 per month in just therapy for the child. This can be a burden to the childs family, as they might struggle to keep up with other necessities in order to ensure that they can pay the therapy. Additionally, once the child has grown up and it is time for the individual to get a job, due to the symptoms, he or she will probably have to settle for a job with low wages, which could force the parents to support him, which may not allow them to settle for all the commodities they would want.

In this image we can see with greater detail the partial deletion that causes this syndrome.

Works Cited

“Cri du chat syndrome.” Better Health Channel. Victorian Government Department of Health, n.d.Web. 11 Mar. 2012. <‌bhcv2/‌bhcarticles.nsf/‌pages/‌Cri_du_chat_syndrome?open>.

"cri-du-chat syndrome." Encyclopædia Britannica. Encyclopædia Britannica Online School Edition.
Encyclopædia Britannica, Inc., 2012. Web. 5 Mar. 2012

“Cri-du-chat syndrome.” Genetics Home Reference. National Library of Medicine, n.d.Web. 11 Mar. 2012. <‌condition/‌cri-du-chat-syndrome>.

“Cri du chat syndrome.” PubMed Health. US National Library of Medicine, n.d.Web. 11 Mar. 2012. <‌pubmedhealth/‌PMH0002560/>.

“Epidemiology.” Medscape. N.p., 2012.Web. 11 Mar. 2012. <‌article/‌942897-overview#a0199>.

“Pathophysiology.” Medscape. N.p., 2012.Web. 11 Mar. 2012. <‌article/‌942897-overview#a0104>.

“PMC.” Cri du Chat syndrome. National Institue of Health, n.d.Web. 11 Mar. 2012. <‌pmc/‌articles/‌PMC1574300/>.

“So How Much Did My Physical Therapy Cost? .” Blogging Away Debt. N.p., Sept. 2009.Web. 11 Mar. 2012. <So How Much Did My Physical Therapy Cost? >.

Speechville. N.p., n.d.Web. 11 Mar. 2012. <‌speech-therapy/‌paying-for-speech-therapy.html>.

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