This paper is devoted to the so-called cri du chat syndrome. This is a rather rare syndrome as it is met in 1 out of 50 000 live births. The main cause of this syndrome is a deletion of the short arm of a chromosome. The name of the syndrome can be translated from French as “cry of a cat”. Later on, when we stop in details at the main symptoms of the disease it will be clear why it got such a name.
Children who are born with this syndrome have usually low birth weight and respiratory problems are as well possible. Some people who suffer from the syndrome might have a shorter lifespan, but in most cases, they lead the same life expectancy. In about 80% of all cases, the abnormal chromosome comes from father’s sperm.
This syndrome has also some other names, for example: chromosome 5p deletion syndrome or 5p minus syndrome. The general definition which can be given to it, sounds like: “ a group of symptoms that result from missing a piece of chromosome number 5, its name is based upon the infant’s cry, which is high-pitched and sounds like cat” (3).
Actually the fact is that children born with this syndrome are still able to lead a happy life and become good members of the society. There are a lot of problems that they will have to face, but usually not every child has all of them. So, parents should not be hit by the shock, they should pay all their attention to help their kind to overcome his difficult situations and learn and develop further. It is also important for the parents of such children to be aware of the concrete problems and ways of solving them in this situation.
Thus we are going to concentrate more upon the nature of the cri du syndrome, upon its sighs, symptoms, medications used for treating it and so on.
First of all it is necessary to mention that people usually have 23 pairs of chromosomes in each cell of the body. They are named in pairs as well. The combination of genes makes the chromosome, genes are the main containers of code instructions, consisting of protein. This code provides a kind of a plan for every human being.
If there appears a problem somewhere in chromosome, than this code can not be read properly and thus the child cannot develop in a proper way either. We are talking not only about the body but about the brains as well. Scientifically the genetic problems are called genetic disorders. The syndrome that was mentioned above also belongs to genetic disorders, thus we can not actually call it an illness or disease. Children suffering from this disorder have both physical and mental problems in their development. Some health problems are also lucky to appear because of the wrong physical development.
The researches showed that this syndrome never occurred in some specific geographical location or among some certain racial or ethnical group. The scientists were either not able to find any connection between cri du chat syndrome and any environmental factors like radiation or pollution. The conclusion is that it is an occasional occurrence.
There are several cases of genetic mishaps resulting in cri du chat syndrome, but all of them are connected with missing or deleted part of one of the pair of 5 chromosomes. The centromere of the chromosome consists of two segments: short and long arms. Several genetic arrangements are named that can be the basis of cri du chat syndrome: unbalanced translocation, ring chromosome, interstitial deletion, inversion, duplication of partial trisomy, mosaicism.
This syndrome was named so in the year 1963 by geneticist Jerome Lejeune for one of its main characteristics – the distinctive, high-pitched cat-like cry. As soon as the child grows his voice still lowers, but the high-pitch never disappears.
There are certainly other characteristics of the syndrome, met in infancy. As it was already mentioned not all children have all features. Some of them are slightly recognizable, others are more obvious in one child.
So, the outline of the main characteristics of cri du chat syndrome will look like follows:
- “monotone, weak , cat-like cry
- Small head (microcephally)
- High palate
- Round face
- Small receding chin
- Widely spaced eyes
- Low set ears
- Low broad nasal ridge
- Folds of skin over upper eyelid
- Distinctive palmar creases” (3).
Some of the mentioned features can change as the child grows, for example by males the voice undergoes certain changes, but by females it still retains the high pitches till the end of their lives. The face can become more elongated, but the head still remains relatively small.
The diagnosis of cry du chat syndrome in most cases is supported by chromosomal analysis of cultured blood cells. “In some individuals with cri du chat syndrome the depletion of chromosomal material is minimal and can only be discovered using DNA analysis. Prenatal diagnosis is possible.” (1).
Medical treatment of the syndrome is usually connected with specialists’ neonatal care, sometimes with respiratory assistance. Most of the newborn children have problems with sucking and thus it is often necessary to feed them through a tube during their first month of life. Actually, they will face the eating difficulties within the whole period of childhood as thus gain not much weight. Sometimes special bottles or other eating aids are used. If it is necessary to prolong the tube feeding of a child then a gastric feeding tube might be used.
As it is really difficult for these children to relax it becomes as well difficult to sleep. In such cases tranquilizing medication is used in order to break the vicious circle.
The children with cri du chat syndrome badly need motor training and breathing exercises, it will help them to cough and thus to remove mucus from a respiratory system. Dental care is supposed to prevent such problems as cavities and gingivitis.
“Research in the past has been concentrated in the area of medical genetics with a very limited investigation of the developmental and behavioral aspects of the syndrome” (5). Current research try to locate and identify the critical genes responsible for the various features of the syndrome. For example the gene location for the cry was found on the separate bands of the chromosomes. Research as well pay a lot of attention to the behavior of children with cri du chat syndrome and the long term goal is to come to the therapies which would better help the children lead potential, full and happy lives.
“Developmental researches have been collaborating with genetic research for a number of years in an attempt to define how the carrying genetic combinations (genotype) occurring in this syndrome affect the development and features a particular individual displays” (5). It is important to first of all identify the activity of certain genes this is supposed to contribute in the future to predicting of the extent to which the child’s development will be affected. The main problems for researchers are that actually the cause of the syndrome is not known, it is still not clear what makes the certain genes suffer from deletion. In many cases it happens spontaneously, there are cases when one of the parents has problems with chromosome 5.
Overall, to conclude the main facts about cri du chat syndrome we should mention that this is a rare genetic disorder, the main cause of it are missing pieces of certain chromosomes, the main characteristics are a high-pitched cry, small head and a flattened bridge of the nose, the main goal of the treatment is so far to help the children live normal lives. It was interesting to collect information and write about this syndrome as although it is seldom met, it still has a wide field for investigation as well as genetics in the whole. Probably scientists in the future will be able to solve many of genetic problems and find answers to many questions connected with our genes.
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