Cri+du+chat

//What is it?//
 * Cri du chat**

Cri du chat is a genetic disease that affects one child in every fifty thousand and is not more significantly present in any specific ethnicity (Learn Genetics 2012). Its name, which means “the cat’s cry” when translated to English, makes reference to a characteristic sound emitted by affected children, resulting from an abnormal larynx (Genetic Diseases 2010). However, beyond the loud shriek, there are other symptoms that are caused by this disorder. It causes physical abnormalities, such as wide spaced eyes, smaller heads and jaws, weak muscle tone, scoliosis and heart malfunctions (National Genome Research Institute, 2010). In addition, it also affects behavior. Children with cri du chat will have mild to significant retardation, hyperactivity and will take more time to learn how to walk and develop gross motor skills (Cornish, Pigram 1996). Nevertheless, adults and children with cri du chat are sociable and happy.

//What went wrong?//
 * The Cause**

Cri du chat is caused by the deletion of a segment of the short arm of chromosome 5. This deletion is caused by a break in the DNA molecule when gametes, either male or female are developing. There are two possibilities as to how this break might occur. The first is that the DNA molecule breaks randomly and is not repaired by becoming attached to another chromosome through recombination (National Genome Research Institute 2010). The second possibility is that during meiosis pairs of chromosomes don’t line up correctly in the metaphase plate, altering the structure of the chromosome and possibly causing a deletion (National Genome Research Institute 2010). If the deletion occurs in the end of the short arm of chromosome five and that egg or sperm is fertilized, then the resulting child will have cri du chat. In 80% of the cases, it was the sperm that carried the deleted segment of DNA (National Genome Research Institute 2010).

Thus, parents usually don’t have a broken chromosome themselves. However, in 10% of the cases, parents will have a chromosomal rearrangement, where no genetic material is lost, but the relative location of parts of chromosomes is different (National Genome Research Institute 2010). While this does not affect the parent, during reproduction, the genetic material may become unbalanced due to unequal recombination, and genetic material may become gained or lost. If the short arm of the fifth chromosome was rearranged, but became lost, then the child would inherit cri du chat (PubMedHealth 2011). The loss of genetic material in the fifth chromosome creates the symptoms associated with cri du chat. For instance, the gene CNND2, located in the end of the short arm of the fifth chromosome is responsible for the protein delta catenin (Genetics Home Reference 2010). This protein in turn helps guide nerve cells to their positions. In addition, it has an important role of synapsis. Without this protein, brain activity is hindered, resulting in retardation (Genetics Home Reference 2010). Like CNND2, the absence of other genes affects processes in the body, which cause the defects or abnormalities seen in people with cri du chat. Scientists are still trying to pin point what each gene does to better understand how the loss of genetic material in cri du chat relates to its symptoms (Genetics Home Reference 2010).

//What is good about it?//
 * Benefits**

While there is no treatment for cri du chat at a genetic level, a lot can be done to fully potentiate individuals with the disease (Denny 2000). Since individuals with cri du chat have retardation and problems with their gross motor skills, many are not able to dress or feed themselves or use the bathroom. As a result, they become highly dependent and cannot lead meaningful lives in a traditional sense: working and taking care of themselves. However, therapies exist that are able to ameliorate many of the conditions that inhibit their potential to become productive adults. For instance, there are language therapies that teach children with cri du chat how to communicate, verbally but also with sing language (Denny 2000). In the same way, there is also physiotherapy that develops muscle tone and thus allows the development of motor gross skills, helping them learn how to walk, dress, feed and cloth themselves (Better Health Channel 2010). In addition to therapies, there are other mechanisms for integrating people with cri du chat into society. For example, in the UK there are schools that place children with mild mental retardation in a normal setting. They work and learn alongside those that do not have similar disabilities. Like therapy, this type of integration allows children with cri du chat to develop social sills and become more independent (Denny 2010). In the same way, there are job opportunities for people with the disease. While many of these are very mechanical, requiring little to non decision-making, they are a morale boost for adults suffering from this disease (Better Health Channel 2010). Not only do they earn a living, which increases their independence, but they also become contributing members of society.

//What is bad about it?//
 * Limitations:**

Despite the existence of therapy and integration methods, there are several factors that inhibit a proper treatment of cri du chat. It is both expensive and time consuming (Griffith, Hastings, Oliver 1998). Places such as Australia have treatment centers that offer therapy sessions and counseling (Better Health Channel 2010). In the same way, there are public schools in the US, UK and other developed nations specifically targeted at children with retardation. However, such opportunities are non-existent in developing nations, where the treatment of children will signify an extra expense for parents. Yet, money is only a small part of the issue. If treatment is to be effective, it must not only occur during therapy, but also in the household (Denny 2010). Parents have to be counseled on how they can help their child mitigate the defects of the disease. This involves giving the children constant attention and becoming educated on the mechanisms of stimulation (Denny 2010). For working parents with a tight budget, this is hard. Then too, is the problem of ignorance. In rural and poor areas, parents don’t have access to information on genetic diseases or the appropriate care (Oloyede 2011). In the best cases, they will care for their child with love, but without the specialized therapy that allows children to further develop speech and motor gross skills. In the worst case, parents will reject the child attributing some superstitious belief to their condition. As a result, children with cri du chat and other genetic diseases are discriminated. Indeed, caring for a child with cri du chat is expensive, but not even money will guarantee that the best care is provided. Parents have to be well educated and willing and able to give up time. However, this is only possible in relatively well-off societies, where such opportunities exist.

//What role does culture play in treating cri du chat?//
 * Cultural:**

The role of culture in the treatment of cri du chat varies across societies. In some cases it is extremely influential. For example, in Sub-Saharan Nigeria where Down’s syndrome is prevalent, children with retardation are deemed to be descendants of the devil (Oloyede 2011). As a result, they are ostracized or killed (Oloyede 2011). However, the active persecution of genetically impaired children is a marginal scenario that occurs only in places where abject poverty and the lack of educational institutions help such beliefs prevail. Other rural and poor areas have demonstrated better treatment of genetically affected children. In the village of Las Perlas in the Mexican west coast, an American founded a center to treat cri du chat and other genetic disease that cause retardation. While poor, the people in the village responded positively, becoming involved in communal therapeutic activities (Oloyede 2011).

In most cases the role of culture is subtler. In some societies, parents don’t think they should have to share the burden of education with schools. As a result, they participate very little in the formation of their children (Denny 2000). Such beliefs can also extend to their role in treating cri du chat, leaving all the work to the therapists and educators. Conversely, in other cultures, such as the East Asian one, parents are very involved in the formation of children. This would have positive effects when translated to the treatment of the genetic disease (Denny 2000).

//How responsible are parents?//
 * Ethical:**

Raising a child with cri du chat is significantly different than doing so with one that does not suffer from the disease. (Griffith, Hastings, Oliver 1998). It involves participating in therapy, counseling and becoming informed on how to deal with kids that suffer from the disease (Denny 2000). As a result, an important question must be raised: how much should parents do? This is a significant question because it allows one to draw the line between the ethical care of children with genetic disease and negligence. The UN Convention on the rights of children declares that: //Recognizing the special needs of a disabled child shall be provided free of charge, whenever possible, taking into account the financial resources of the parents or others caring for the child, and shall be designed to ensure that the disabled child has effective access to and receives education, training, health care services, rehabilitation services, preparation for employment and recreation opportunities in a manner conducive to the child's achieving the fullest possible social integration and individual development, including his or her cultural and spiritual development//( Office of the United Nations High Commissioner for Human Rights 2009). As a result, there is a strong precedent, both at an individual but also state level to care for disabled children to the fullest extent. According to this treaty, which has been ratified by all countries except for the US and Somalia, states are obliged to provide the services necessary for a disabled child to reach their maximum potential ( Office of the United Nations High Commissioner for Human Rights 2009). Then too, it means that if such services exist, the responsibility is extended towards the parent, who now has the obligation of making use of given services. However, most countries are far from offering the services outlined in the treaty. In those cases, then the responsibility of parents is harder to define. Yet, a similar line of logic must be followed. Whatever opportunities exist and services are provided, parents must take. That is, as long as it is feasible under their economic situation. Cri du chat is not preventable and having a child with this disorder is a possibility that everybody takes when they engage in reproduction. Caring for a child with the disease is time consuming and in some countries expensive. However, if resources exist then parents have the responsibility to do everything that is possible to potentiate the development of the child. While negligence laws do not assess this, it is an implicit burden that parents assume when they decide to bring a living being into the world (Child Welfare Information Gateway 2008). Works Cited “CNND2.” //Genetics Home Reference//. United States National Library of Medicine, Feb. 2010. Web. 12 Mar. 2012. . “Convention on the Rights of the Child.” //Office of the United Nations High Commissioner for Human Rights//. United Nations, 2 Sept. 2009. Web. 12 Mar. 2012. . Cornish, K M, and J Pigram. “Developmental and behavioral characteristics of cri du chat syndrome.” //Archives of Disease in Childhood// 75 (1996): 448-450. //ProQuest Platinum//. Web. 8 Mar. 2012. . “Cri du Chat.” //Genetic Diseases//. N.p.: Omnigraphics, 2010. 369-371. Print. “Cri du chat syndrome.” //Better Health Channel//. State Government of Victoria, 10 Apr. 2010. Web. 12 Mar. 2012. . “Cri-du-chat syndrome.” //Genetics Home Reference//. United States National Library of Medicine, 5 Feb. 2010. Web. 12 Mar. 2012. . “Cri-du-chat Syndrome .” //Learn Genetics//. The University of Utah, n.d. Web. 12 Mar. 2012. . “Cri du chat syndrome.” //PubMedHealth//. United States Government, 4 Aug. 2011. Web. 12 Mar. 2012. . “Definition of Child Abuse and Neglect in Federal Law.” //Child Welfare Information Gateway//. United States Department of Health and Service, 2008. Web. 12 Mar. 2012. . Denny, Michael, et al. “Using Parent Delivered Graduated Guidance to Teach Functional Living Skills to a Child with Cri du Chat Syndrome .” //Education and Treatment of Children// 23.4 (2000): 441. //ProQuest Platinum//. Web. 8 Mar. 2012. Grifith, G M, R P Oliver, and G M Hastings. “Psychological well being in parents of children with Angelman’s Cornelia de Lange and Cri du Chat.” //Journal of Intellectual Disability Research// 55.4: 397-398. //ProQuest Platinum//. Web. 8 Mar. 2012. “Learning About Cri du Chat Syndrome.” //National Genome Research Institute//. National Institute of Health, 10 Dec. 2010. Web. 12 Mar. 2012. . Oloyede, Olufemi Adebari. //Down Syndrome in Nigeria Sub Saharan Africa//. N.p., 1 Dec. 2011. Web. 12 Mar. 2012. .