Cat Cry Syndrome (Cri-du-Chat Syndrome)
Cat cry syndrome (cri-du-chat syndrome) is a genetic disorder in which affected infants cry in a cat-like manner. Typical symptoms are low weight at birth and a small head.
What is cat cry syndrome?
Cat cry syndrome (cri-du-chat syndrome) is a hereditary disease . About one in 50,000 children is affected. Because of its low frequency, cat cry syndrome is a rare condition. The name was chosen by a French pediatrician because affected infants cry like cats.
The characteristic screams are due to a malformation of the larynx. Significantly more girls than boys are affected by cri du chat syndrome. Doctors therefore speak of gynaecotropia, i.e. a disease that mainly affects the female sex. By promoting physical and mental development at an early stage, good results can be achieved in terms of independence.
causes
The cause of the cat cry syndrome (cri-du-chat syndrome) is a hereditary abnormality that affects the structure of the chromosomes. A small piece of chromosome 5 is missing in affected children; this is called chromosomal aberration. According to the current state of knowledge, there is no causal connection between the cat cry syndrome and the age or behavior of the mother. It is highly probable that the structural change in the chromosome occurs randomly and is not caused by external influences.
In the majority of cases, the parents are completely healthy, i.e. not affected by the hereditary disease. The mutation that leads to the disease occurs during cell division in the growing embryo. About one in seven affected infants inherits the chromosomal aberration from a parent.
In these cases, the respective parent also has a structural chromosomal aberration on chromosome 5; however, this has no negative effects. This is because the part that has broken off attaches itself to another chromosome and fulfills its function there. If the child does not have the chromosome part, the typical symptoms of cat cry syndrome appear.
symptoms and course
Typical symptoms of cat cry syndrome (cri du chat syndrome):
- low birth weight
The most characteristic symptom of CDC syndrome is the feline screams of the affected infants. A laryngeal malformation is the cause of the high-pitched screams. Although these very high-pitched cries go away as they develop, sufferers tend to speak in a high-pitched voice. In addition, affected children have a low birth weight.
Malformations affecting internal organs or appearance are also typical of cat cry syndrome. Children with CDC syndrome usually have a small head, a so-called microcephaly and a noticeably round face shape. The chin is narrow and the bridge of the nose relatively wide. The eyes, which are far apart, are particularly striking. In addition, the shape of the ears is often unusual.
In addition to the physical characteristics, there is a disturbance in language development and general intellectual development. In addition, there is a weakness in the muscles, which impairs physical development. Early support for children with cat cry syndrome has a positive effect on the course of the disease. However, affected children will always have to live with certain physical and mental limitations.
Diagnose
The diagnosis of cat cry syndrome (cri-du-chat syndrome) is usually made after birth. If one of the parents is known to have the chromosomal aberration, there is a greater risk for the unborn child. In such cases, a chromosome analysis can already be carried out during pregnancy . However, the diagnosis is often made on the basis of abnormalities after birth. A suspected diagnosis can be made if a number of typical symptoms appear in the newborn. These include, among other things, a low birth weight, microcephaly and high-pitched screaming sounds. A definitive diagnosis can only be made by examining the child’s chromosomes.
complications
The cat cry syndrome primarily causes the infant to cry very loudly and shrillly. As the disease progresses and, above all, without treatment, this leads to a malformation in the patient’s larynx. The affected children often suffer from a very low weight after birth and also from developmental disorders .
The growth of the child is also significantly negatively influenced by the cat cry syndrome, so that they suffer from short stature and a small head.
The child’s eyes are often far apart, causing squinting . Children can also be teased or bullied because of their unusual appearance. The syndrome also leads to misaligned teeth and significant muscle weakness. Parents can also suffer from psychological problems or depression as a result of the cat cry syndrome.
Various therapies can usually limit the symptoms well. In most cases, however, a completely positive course of the disease cannot be achieved. Unfortunately, life expectancy cannot be predicted.
treatment and therapy
The cat cry syndrome (cri-du-chat syndrome) cannot be treated causally; the chromosomal aberration thus persists throughout the life of the child. A cure is currently not possible. In general, the therapy aims to treat malformations and to compensate for deficits in development through targeted support. Some of those affected have a malformation of the heart that needs to be treated.
The therapy mainly consists of promoting and supporting the development of the child. The development of the child should be promoted by an environment adapted to the respective needs. In order to improve physical limitations, ergotherapy and physiotherapy are used in many cases . Great progress can be made in children with cat cry syndrome with these types of therapy. This increases the child’s independence. Stimulating games can be used to compensate for mental deficits.
Since CDC syndrome is often associated with a speech development disorder, it is recommended that the child be cared for by a speech therapist. With the right treatment and early support for children with cat cry syndrome, great success can be achieved. In adults affected, the treatment usually consists of measures that promote employability and independence.
prevention
Since the cat cry syndrome (cri-du-chat syndrome) is a disease that occurs as a result of a spontaneous mutation of the genetic material, there are no prophylactic measures. It is currently not assumed that external influences are associated with CDC syndrome. According to the current state of research, even the age of the expectant mother plays no role in the development of the mutation.
Parents with an affected child have a greatly increased risk that the next child will also have cat cry syndrome. In this case, genetic counseling from a specialist is recommended before the next pregnancy.
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