Cat scream syndrome can be associated with a joke by many, but it is a rare genetic disease. According to statistics, it occurs once in 15-50 thousand births. In our country, this disease was detected and diagnosed in about 60 children. It is recognized at first by the unusual sound of a baby crying, which is more like a cat meowing than a toddler’s sobbing. What do you need to know about this disease and what are its other signs?
Cat scream syndrome this is just one of the names for this condition. The term is also used Lejeun’s syndrome, from the name of a famous French doctor. Doctor Jean-Louis Lejeune is a specialist in the field of genetics who discovered not only cat scream syndrome, but most of all the etiology of Down syndrome, i.e. chromosome 21 trisomy. For this discovery, he was awarded the Kennedy Prize in 1961. In turn, in 1963 he found the cause cat scream syndrome, which is referred to as a genetic disease caused by a deletion of the short arm of chromosome 5. Dr. Lejeune also knows about the relationship between folic acid deficiency in pregnant women and the risk of fetal malformations.
Cat scream syndrome – causes
Each person has 23 pairs of chromosomes. Cat scream syndrome are abnormalities on the 5th chromosome. Scientists claim that as much as 90% of all cases of this disease are associated with completely random mutations of this gene, which arise for reasons completely unknown to science. These abnormalities occur during the first cell divisions immediately after fertilization. Only 10% of the time cat scream syndrome it is caused by abnormal genes that are passed on to their children. Of course, both the mother and father are healthy individuals, but they may be carriers of so-called balanced translocations. It is these translocations that lead to the occurrence of various diseases in children, including cat scream syndrome.
It should also be remembered that neither the mother nor the father have a direct influence on the development of this disease and in the event that their child is burdened with the disease, they cannot blame themselves for it.
Cat scream syndrome – symptoms
From the moment it is born, it can be stated that the baby cries in a characteristic and more similar way cat meowing than the usual newborn cry. This is because of an abnormally constructed larynx, which is much smaller and narrower than normal. Its shape is more like a rhombus, it is very slender and has a small epiglottis. It is also influenced by disorders within the nervous system. This crying usually subsides within several months.
There are many signs of irregularities on the child’s face. These include a round and very often asymmetrical face, one of the characteristic features of which is a small lower jaw. There are also characteristic wrinkles that run vertically, forming a skin fold that covers both paranasal corners of the eye. Cat scream syndrome it also changes the appearance of the eyes and nose. The eyes are set wide apart and the nose has a very distinctive structure, with a flat, wide base and an exceptionally short back.
Children with cat scream syndrome have problems with the digestive system, because the sucking and swallowing reflexes are insufficiently developed. Under these circumstances, it is very difficult to feed such a toddler, so you have to fight for every decagram of weight gain. Unfortunately, children gain little or no weight, which is a huge problem. This is usually accompanied by severe drooling and problems with defecation.
Over time, intellectual and motor disabilities become more and more apparent. Toddlers do not speak and communicate with the environment using familiar gestures and facial expressions. To the cat scream team very often they are accompanied by other diseases. These can include heart or kidney defects, clubfoot, spina bifida, lip or palate, as well as abnormal bowel structure. Due to these additional disadvantages, some children pass away in the first years of life.
Cat scream syndrome – treatment
Medicine is still helpless in the face of genetics. Unfortunately cat scream syndrome cannot be cured. All therapy is focused on relieving symptoms. Rehabilitation comes to the fore, and it is only thanks to it that patients have a chance to live to adulthood at all. Most often, children are very handicapped, so rehabilitation focuses mainly on teaching the toddler basic activities. It is all about eating, sitting and walking. There is one type of therapy that is really effective in the course of such a severe disease as cat scream syndrome. Rehabilitation called dolphin therapy it can do a lot.
It was discovered that the activities with dolphins brought excellent results. These animals send ultrasound sounds towards sick people cat cry syndrome and thus lead to the regeneration of defective cells. Unfortunately, the costs of such rehabilitation are staggering, and the Polish National Health Fund does not want to reimburse them.