Cat cry syndrome, also known as cri-du-chat syndrome, is understood by physicians to be a rare hereditary disease. This manifests itself in infants, among other things, by the typical cat-like cries that gave the disease its name.
What is feline cry syndrome?
Feline screaming syndrome is a condition caused by an alteration in the genetic material. According to statistics, one in 50,000 children has the CDC syndrome. Girls are affected significantly more often than boys (the ratio is approximately 5:1). Cat Cry Syndrome is manifested by numerous features that vary in severity in individual cases. Due to this fact, the disease is often not recognized or only very late. Symptoms include a malformation of the larynx, short stature, malformations of the head or face, and impaired motor and cognitive abilities. Feline cry syndrome is not curable; however, depending on the individual’s expression, the individual’s condition can be improved with appropriate therapeutic and social support. Life expectancy is usually barely affected unless other conditions develop.
Causes
The causes of feline cry syndrome lie in an alteration of the genetic material. Basically, each person has 46 pairs of chromosomes. CDC sufferers have a piece loss on chromosome 5. This results in a gene structure that deviates from the norm and causes the symptoms. The chromosomal alteration can occur either as a result of a spontaneous mutation or due to a hereditary predisposition. In most cases, it is a spontaneous change. If feline cry syndrome is hereditary, one parent carries the chromosomal change in his or her genetic material. However, the genetic information contained in the missing piece is not lost, but attaches to another pair of chromosomes. Thus, the affected parent, although healthy himself, passes on the CDC syndrome to his children. Approximately 12% of known cases arise in this way.
Symptoms, complaints, and signs
Cat cry syndrome is manifested predominantly by the typical feline cry. As a result of a malformation of the larynx, the affected child expresses itself through shrill sounds that sound high-pitched and pressed and are associated with prolonged exhalation. Inhalation is usually difficult, resulting in the characteristic panic-like gasping for air. There are also other malformations. For example, many children with catcry syndrome have a small head with low-set ears or a small chin or wide nasal bridge. The eyes may be unusually wide apart and the eyelids may have prominent skin folds. In addition, sufferers often have short fingers or what is called a four-finger furrow, in which the fingers are crisscrossed by a flexural crease. The little finger occasionally shows an unusual inner bend. In the area of the eyes, symptoms such as strabismus and myopia may occur. Furthermore, malocclusions of the teeth may develop. These are associated with a greatly slowed development of language skills. Those affected then speak very unclearly, for example, or have problems with spoken language. Speech comprehension usually develops normally. The high-pitched crying usually disappears within the first few years of life. However, the high-pitched voice persists and leads to psychological problems in many sufferers. In addition, a curved spine may develop during life.
Diagnosis and course
Feline cry syndrome can be diagnosed during pregnancy. A chromosomal analysis can provide information about whether the fetus is suffering from a change in the genetic material. However, this examination will only take place if there is a reasonable suspicion. This may be the case, among other things, if a parent couple has already had a child with CDC syndrome and there is a likelihood that further offspring will also be affected. In these circumstances, an amniocentesis or tissue examination will take place. After birth, feline cry syndrome can often be diagnosed by physical abnormalities. For example, infants affected by CDC syndrome usually have a very low birth weight and a reduced head size. The eyes are often wide apart, while the ears are conspicuously low.The typical high-pitched, cat-like cry of affected infants, which is caused by a laryngeal malformation, is a clear sign of feline cry syndrome.
Complications
Cat cry syndrome causes even young children and infants to cry very loudly and shrilly. It can cause severe psychological distress or depression, especially to the parents and relatives. 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 disturbances in growth and development. Likewise, there is a reduced birth weight and further also a misalignment of the jaw. The teeth can show malpositions and malformations. Those affected suffer from weak muscles and squinting. Likewise, there is reduced intelligence or retardation, so that the patient may be dependent on the help of other people in his daily life. Life expectancy may be reduced due to feline cry syndrome. It is not possible to cure feline cry syndrome. For this reason, only therapies can be used to alleviate the symptoms. Especially the parents often need psychological treatment. If cat cry syndrome is diagnosed during pregnancy, the pregnancy may be terminated.
When should you see a doctor?
Newborns show visual changes or other abnormalities immediately after birth that should be examined by a physician without delay. In most cases, a birth takes place in the presence of obstetricians or physicians. In a routine procedure, these take over all the necessary initial examinations of the child 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 newborn’s parents. If the birth takes place without the presence of an obstetrician, a comprehensive medical examination of the mother and baby should be initiated immediately after delivery. A physician is especially needed if the infant has malformations of the larynx or an unusual eye position. A malposition of the jaw, squinting or eyes that are wide apart with a broad nose at the same time are indications of a present disease. If the newborn’s head and chin are very small in direct proportion to other infants, the observations should be discussed with a physician. If the infant’s cries sound cat-like, this is considered worrisome and should be investigated. If the birth weight is very low, checkups are needed so that the necessary steps can be taken to ensure the infant’s survival.
Treatment and therapy
Although CDC syndrome is not curable; if the condition is detected early, the personal development of the affected individual can be positively benefited by appropriate therapies. This includes speech and movement therapies as well as appropriate early intervention and occupational therapy. The exact course of the disease depends on the respective degree of severity and also on the intensity of the support. A lifelong restriction of motor and cognitive abilities is likely, so that most CDC sufferers remain dependent on assistance and/or care. However, it is impossible to predict exactly how an individual’s clinical picture will develop.
Outlook and prognosis
Feline cry syndrome cannot be prevented or cured. For this very reason, early and targeted support for affected patients is important. This should consist of both physical and psychological support. If such support is not provided, 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 necessary in everyday life. Movement sequences such as walking, getting dressed or speaking can then represent insurmountable hurdles. However, if early support measures are introduced, they can have a favorable influence on the course of the disease and significantly improve the quality of life. Consistent stimulation of patients in various areas of everyday life can enable them to lead a largely self-determined existence in adulthood.Speech therapy, for example, can help to positively influence typical speech deficits already in childhood. To bring about the best possible prognosis for the disease, therapy measures should be individually tailored to each patient. Although the abilities of these individuals often remain limited and lifelong support is necessary, the disease does not have a diminishing effect on the life expectancy of children born with feline cry syndrome.
Prevention
Because feline cry syndrome often occurs spontaneously, the disease cannot be prevented in the strict sense. However, if a corresponding gene mutation is known in one parent, at least early examinations during pregnancy are possible, which provide information about a possible disease in the child. Parents then have the option of deciding for or against an abortion. Specialized physicians can also determine the risk of CDC disease while the child is still at risk, provided that one of the parents’ children is already affected by catcry syndrome. If an infant is born with CDC syndrome, parents should in any case provide him or her with the most intensive support possible in order to optimally support personal development.
Follow-up
Since a causal therapy of feline cry syndrome is just as little possible as a cure, there are also no aftercare options in the true sense. Early intervention and lifelong physiotherapy, occupational therapy, and speech therapy are recommended as part of the therapy. It is imperative to provide lifelong physical and emotional support to the affected person even after successful therapies and with 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 high relevance. In advanced age and especially in the late adolescent phase, vocational measures are of high importance. Social exclusion due to the poor cognitive development of cri-du-chat patients must be urgently prevented. Various self-help groups accompanying everyday life offer support in work and life organization. It is important that those affected are supported and not overtaxed. Beyond the use of psychological, social and physiological support, regular general medical, ophthalmological, ENT medical and dental care forms the basis for a life with little suffering with the Cri-du-Chat syndrome. Despite early support, behavior and especially fine motor skills and articulation of affected persons usually remain conspicuous and have a stigmatizing effect. Affected persons are dependent on support and, if necessary, care for the rest of their lives, even with good therapy.
What you can do yourself
Because the cause of feline cry syndrome is a mutation in the chromosomes, it is not possible for affected individuals to cure themselves of it. However, the syndrome is often accompanied by other physical impairments that may vary from patient to patient. Various types of developmental disorders often occur. With occupational therapy, physiotherapy and physical therapy, these can be limited from the beginning and the delays in development can often be compensated for as far as possible with targeted support. The same applies to other concomitant symptoms of feline cry syndrome. The frequently occurring susceptibility to infections and the often observed dental problems can be counteracted preventively in each case. The speech disorders that often occur due to the slowed development can be alleviated or even eliminated with logopedic measures. As a rule, most of the accompanying symptoms of feline cry syndrome can be largely limited by intensive support and treatment measures started as early as possible. With such therapeutic treatments, an increase in the quality of life of those affected can be achieved. 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.
