Cat cry syndrome, also known as cri -du-chat syndrome, is a rare hereditary disease. This manifests itself in infants, among other things, through the typical cat-like screams that gave the disease its name.
What is cat cry syndrome?
CDC sufferers have a piece loss on chromosome 5. This creates an abnormal gene structure that causes the symptoms.
The cat cry syndrome is a disease that is due to a change in the genetic make-up. According to statistics, one in 50,000 children has CDC syndrome. Girls are affected significantly more often than boys (the ratio is around 5:1). See AbbreviationFinder for abbreviations related to Cat Cry Syndrome.
The cat cry syndrome is expressed by numerous characteristics that occur with varying degrees of severity in individual cases. Due to this fact, the disease is often not recognized or only recognized very late. Symptoms include a malformation of the larynx, short stature, malformations of the head or face and limited motor and cognitive abilities.
Cat cry syndrome is not curable; Depending on the individual characteristics, the condition of the individual can be improved through appropriate therapeutic and social support. Life expectancy is usually little affected unless other illnesses occur.
Causes
The causes of the cat cry syndrome lie in a change in the genetic material. Basically every human being has 46 pairs of chromosomes. CDC sufferers have a piece loss on chromosome 5. This creates an abnormal gene structure that causes the symptoms.
The chromosomal change can either occur as a result of a spontaneous mutation or as a result of a hereditary predisposition. In most cases it is a spontaneous change. If cat cry syndrome is hereditary, one parent carries the chromosomal change in their genome. However, the genetic information contained in the missing piece is not lost, but attaches itself to another pair of chromosomes.
The result is that the affected parent is healthy themselves, but passes the CDC syndrome on to their children. About 12% of known cases arise in this way.
Symptoms, Ailments & Signs
The cat cry syndrome is mainly expressed by the typical cat-like screaming. As a result of a malformation of the larynx, the affected child expresses itself through shrill sounds that sound high and compressed and are associated with prolonged exhalation. Breathing in is usually difficult, which results in the characteristic panicked breathing.
There are also other malformations. For example, many children with cat cry syndrome have a small head with low-set ears, or a small chin, or a broad bridge of the nose. The eyes may be unusually wide apart and the lids may have noticeable skin folds. In addition, the sufferers often have short fingers or a so-called four-finger furrow, in which the fingers are crossed by a flexor crease.
The little finger occasionally exhibits an unusual internal flexion. Symptoms such as squinting and short-sightedness can occur in the eye area. Furthermore, misaligned teeth can occur. These are accompanied by a greatly slowed development of language skills. Those affected then speak, for example, very unclearly or have problems with spoken language.
Speech comprehension usually develops normally. The high-pitched cry usually disappears within the first few years of life. However, the high voice remains and leads to mental problems in many sufferers. In addition, a crooked spine can develop over the course of life.
Diagnosis & History
Cat cry syndrome can be diagnosed during pregnancy. A chromosome analysis can provide information as to whether the fetus is suffering from a genetic change. However, this investigation will only take place if there is a reasonable suspicion.
This can be the case, for example, if a pair of parents has already had a child with CDC syndrome and there is a likelihood that other offspring will also be affected. Under these circumstances, an amniotic fluid or tissue test will take place. After birth, cat cry syndrome can often be diagnosed based on physical abnormalities.
Babies affected by CDC syndrome usually have a very low birth weight and a reduced head. The eyes are often set wide apart, while the ears are noticeably low. The typical high-pitched, cat-like cry of sick infants, which is caused by a malformation of the larynx, is a clear sign of cat cry syndrome.
Complications
The cat cry syndrome causes very loud and shrill screams, even in small children and babies. Parents and relatives in particular can suffer from severe mental health problems or depression. The quality of life of the patient and the parents is significantly reduced and limited by the cat cry syndrome.
The children themselves suffer from growth and development disorders. There is also a reduced birth weight and a misalignment of the jaw. The teeth can show misalignments and malformations. Those affected suffer from weak muscles and squint. Likewise, there is reduced intelligence or retardation, so that the patient may be dependent on the help of other people in his everyday life.
Life expectancy may be reduced by cat cry syndrome. It is not possible to cure cat cry syndrome. For this reason, only therapies that are intended to alleviate the symptoms can be used. Parents in particular often need psychological treatment. If cat cry syndrome is diagnosed during pregnancy, the pregnancy may be terminated.
When should you go to the doctor?
Immediately after birth, newborns show visual changes or other abnormalities that should be examined by a doctor immediately. In most cases, childbirth takes place in the presence of an obstetrician or doctor. They carry out all the necessary initial examinations of the child in a routine process and, in the event of irregularities, independently initiate the necessary steps to clarify the cause. In the case of a home birth, this process is taken over by a midwife, so that no further measures need to be taken by the parents of the newborn.
If the birth takes place without the presence of an obstetrician, a comprehensive medical examination of the mother and child should be initiated immediately after delivery. A doctor is particularly needed if the infant has malformations of the larynx or an unusual position of the eyes. A malposition of the jaw, squinting or wide-set eyes with a wide nose are indications of an existing disease.
If the newborn’s head and chin are very small in direct relation to other infants, the observations should be discussed with a doctor. If the child’s cries sound like cats, this is a cause for concern and should be investigated. If the birth weight is very low, check-ups are needed to take the necessary steps to ensure the child’s survival.
Treatment & Therapy
It is true that the CDC syndrome cannot be cured; However, if the disease is recognized early, the personal development of the person affected can be positively promoted by appropriate therapies.
This includes speech and movement therapies as well as appropriate early support and occupational therapy. The exact course of the disease depends on the respective degree of development and also on the intensity of the support.
It is likely that there will be lifelong impairment of motor and cognitive abilities, so that most CDC sufferers remain dependent on help and/or care. However, it is not possible to predict exactly how the clinical picture of the individual will develop.
Outlook & Forecast
Cat cry syndrome cannot be prevented or cured. This is precisely why early and targeted support for the affected patients is important. This should consist of both physical and psychological support. If there is no such support, affected children may not be able to compensate for the severely delayed mental and physical development later on. This can make it impossible to learn certain actions that are necessary in everyday life. Movement sequences such as walking, getting dressed or speaking can then represent insurmountable hurdles. However, if support measures are initiated early, they can have a positive effect on the course of the disease and significantly improve the quality of life. The consistent stimulation of patients in various areas of everyday life can lead to
Speech therapy treatment, for example, can contribute to positively influencing typical language deficits as early as childhood. In order to achieve the best possible prognosis of the disease, therapeutic measures should be individually tailored to each patient. Although these individuals often have limited abilities and lifelong support is required, the disease does not reduce the life expectancy of children born with cat cry syndrome.
Prevention
Since the cat cry syndrome often occurs spontaneously, the disease cannot actually be prevented. However, if a corresponding gene change is known in one of the parents, early examinations during pregnancy are at least possible, which provide information about a possible disease in the child. Parents then have the opportunity to decide for or against an abortion.
Specialists can determine the risk of CDC disease even if you already want to have children if one of the parents’ children is already affected by cat cry syndrome. If an infant is born with CDC syndrome, parents should always give it the best possible support in order to optimally support their personal development.
Aftercare
Since a causal therapy of the cat cry syndrome is just as impossible as a cure, there are no aftercare options in the actual sense. Early intervention and lifelong physiotherapy, ergotherapy and speech therapy are recommended as part of therapy. It is imperative to provide lifelong physical and emotional support to those affected, even after successful therapy and good social integration.
In the early childhood of Cri-du-Chat patients, intensive mental and physical support, as well as speech therapy treatments are of great relevance. At an advanced age and especially in the late youth phase, vocational training measures are of great importance. Social exclusion due to the lack of cognitive development in Cri-du-Chat patients must be prevented as a matter of urgency.
Various everyday self-help groups offer support in organizing work and life. It is important that those affected are encouraged and not overwhelmed. In addition to the use of psychological, social and physiological support, regular general medical, ophthalmological, ENT and dental care forms the basis for a pain-free life with the cri-du-chat syndrome. Despite early support, behavior and especially fine motor skills and articulation of those affected usually remain conspicuous and have a stigmatizing effect. Even with good therapy, those affected are dependent on lifelong support and, if necessary, care.
You can do that yourself
Since the cause of cat cry syndrome lies in a mutation in the chromosomes, it is not possible for those affected to heal themselves. However, the syndrome is often accompanied by other physical impairments, which can vary from patient to patient.
Various types of developmental disabilities are common. With occupational therapy, physiotherapy and physical therapy, these can be limited right from the start and the delays in development can often be largely compensated for through targeted support. The same applies to other side effects of cat cry syndrome. The frequently occurring susceptibility to infections and the frequently observed dental problems can be countered in each case preventively. The language disorders that often occur due to the slowed development can be alleviated or even eliminated with logopedic measures.
As a rule, it has been shown that most of the accompanying symptoms of the cat cry syndrome can be largely limited by intensive support and treatment measures that are started as early as possible. Such therapeutic treatments can improve the quality of life of those affected. Nevertheless, the syndrome with its physical effects and symptoms will usually also have a psychological impact. Therefore, caring, psychological support is also advisable in many cases.
