The cat cry syndrome (CRI-du-Chat syndrome) is a rare genetic disorder by cat-like cry (cry of the cat you = cri chat) of affected children in infancy is marked.
The cat cry or cri-du-Chat syndrome is due in a very specific change of the genetic make-up: a piece of loss (deletion) at one of the filiform structures in the cell nucleus that carry the genetic material (chromosomes). This genetic change occurs mostly spontaneously after fertilization in the cell division of the egg (so when the person affected). The cat cry or cri-du-Chat syndrome may arise but also by inheritance: in case the relevant piece of chromosome (and the fact this genetic information) when a parent on a different chromosome has stored on themselves – the genetic information is not lost here so, but is only in one other place, with no health consequences for the parent. Children who inherit the incomplete chromosome, but develop the cat cry syndrome.
In addition to the feline cries, it is typical that they weigh little noticeable at birth for babies with cat cry syndrome. Furthermore, the cat cry or cri-du-Chat syndrome by following outward symptoms of head and face is marked:
- small head,
- often deep-seated ears
- small Chin
- broad nasal root
This far apart eyes with so-called Mongolenfalte
The mental and physical development of children with cat cry syndrome is delayed, the prognosis in sufficient promotion but conveniently. It is crucial for this purpose that the promotional measures at an early stage start.
In addition to the mentally and physically promotional measures, the treatment the cat cry syndrome is is to fix accompanying malformations, as well as to ensure adequate physical and emotional support. Physiotherapy and occupational therapy are useful throughout life in different degrees and with different priorities. Also an early and long-term speech support, supporting acting on language development, is useful in many cases. Prevent or heal you can’t the CRI-du-Chat syndrome however.
If you already have a child with cat cry syndrome, where an increased risk of inheritance is may may. In the case of genetic counseling come and in the case of a pregnancy a prenatal diagnosis in consideration.
Cat cry syndrome: Definition
Cat cry syndrome (CRI-du-Chat syndrome) is a rare genetic disorder caused by a certain change in the genetic material (so-called mutation) by definition. The name goes back to the feline cries of affected children in infancy (French: cri du chat = cat cry). This distinctive cry is caused by an associated with the syndrome malformation on the larynx.
The French pediatrician Jérôme Lejeune described the cat cry or cri-du-Chat syndrome in 1963 was the first, which is why it is also Lejeune syndrome called.
The cat cry syndrome is relatively rare with a case under 50,000 live births. It affects primarily girls.
Cat cry syndrome: Causes
Certain changes in the genetic material (so-called mutations) are guided as causes the cat cry syndrome (CRI-du-Chat syndrome):
Filamentary structure – called chromosomes – which carry the genetic material found in the nucleus. The person has usually 46 in pairs arranged chromosomes. The cat cry or cri-du-Chat syndrome is due to a piece decreases (so-called deletion) on chromosome 5, thus creating a different structure (so-called chromosome aberration). This genetic change in humans with cat cry syndrome can have several reasons:
- She may have occurred spontaneously after fertilization in the egg cell division or
- be the result of inheritance.
- In most cases, the cat cry syndrome is due to a spontaneous change of the structure of chromosome 5. The paternal chromosome is affected in 80% of cases.
The responsible for the cat cry or cri-du-Chat syndrome chromosome change caused by inheritance, this is done by the so-called balanced translocation (translocation = transfer of chromosome fragments in a different chromosome). This means: when a child with vererbtem cat cry syndrome a parent is also the structural change to chromosome 5, but healthy, because: the missing piece on chromosome 5 (and the fact this genetic information) is not lost, but has stored in on a different chromosome – the genetic information is so available, only at a different location. This transfer raises no symptoms. The affected parent but passes the damaged chromosome to his child, this developed the cat cry syndrome. About 12 percent of cases are in this inheritance path.
Cat cry syndrome: Symptoms
The cat cry syndrome (CRI-du-Chat syndrome) is expressed by diverse, some characteristic symptoms. Name giving of the genetic disorder is the typical feline, shrill cries of affected children in infancy (French cri du chat = cat cry). This is due to a malformation of larynx. The screaming sounds high and pressed, with extended and interrupted expiration and disabled inhaled. The voice of children with cat cry syndrome is often abnormal in age and language development is typically heavily delayed.
In addition, children with cat cry or cri-du-Chat syndrome exhibit remarkably low weight at birth. In addition to the error formed larynx more abnormalities exist, affecting in particular appearance, rarely also inner organs (then mainly the heart). Typical visible symptoms of the cat cry syndrome are:
- the often deep-seated ears, small head (microcephaly)
- a small Chin
- a broad nasal root,
This far apart eyes and on a crescent-shaped fold at the remote towards the nose, inner canthal, known as Mongolenfalte, because it is typical for Asians.
Visible when the cat cry syndrome are frequent:
- a sloping outwards eyelid axis of the eye (i.e. the outer canthal stands lower than the inner canthal).
- short fingers,
- Hands with four finger Groove (= bending fold which – parallel to the basic joints of the finger – across the entire Palm runs, so extends the index finger of the little finger),.
- Squinting and
- Dental deformities.
An another typical sign of the cat cry or cri-du-Chat syndrome is a muscle weakness (Muskelhypotonus). This can have various symptoms result: by the muscle weakness, many children have problems with the heart and breathing. In addition to frequently occurring infections, there are nutritional problems. The dining process – sucking or chewing later – is difficult to children with cat cry syndrome. Digestive problems are often created with vomiting or constipation. In adulthood, the muscle weakness goes back increasingly, leaving the muscles usually underdeveloped.
The mental and physical development of children with cat cry syndrome is severely delayed. People learn much later than healthy children going. By the fact that their skeleton later matures, her body and her head circumference remain mostly below average. More than half of all people with cat cry or cri-du-Chat syndrome have a significantly warped spine (scoliosis) in the higher age. More on the cat cry syndrome are frequent behavioral problems (aggression, especially against their own set).
Cat cry syndrome: Diagnosis
The cat cry syndrome (CRI-du-Chat syndrome) first diagnosis usually based on modified appearance and the symptomatic features of children is made after birth: so affected children have a strikingly low birth weight, and a small head (microcephaly) with ears often deep-seated and far apart eyes. A clear indication on the cat cry syndrome is also the striking screaming of babies – the so-called cat cry (French: cri du chat).
Through an examination of chromosomes (= filamentary structure in the cell nucleus that carry the genetic material), it is possible to diagnose the cat cry or cri-du-Chat syndrome. If there is a parent has been proven responsible for the cat cry syndrome changes of the genetic make-up, is clear already during pregnancy that the child will have an increased risk for the disease. In the case, it is possible to examine the chromosomes of the child even before birth, to make the diagnosis. To do this, the following methods are used:
- a fruit water testing for which the doctor punctured the amniotic sac to get amniotic fluid (amniocentesis), and
- the so called chorionic villus sampling, for which the doctor takes a sample of the nut cake fabric.
- In the material obtained for the diagnosis is to examine whether the children’s genetic makeup has the structural change responsible for the cat cry syndrome.
Cat cry syndrome: Treatment
The cat cry syndrome (CRI-du-Chat syndrome), the treatment aims to remedy possible defects and sufficiently physically and psychologically to support those affected. The cat cry syndrome itself can be prevent but due to no treatment or cure.
Early mental and physical support as well as a physical therapy and occupational therapy that continues through the entire life to varying degrees and in different subjects are crucial for the development of children with cat cry or cri-du-Chat syndrome. As well as all affected children also benefit from a therapy, that supports also the language development through early and long-term speech support. In adults with cat cry syndrome, special vocational measures of importance are in addition to these treatments. In addition, a regular general medical, ophthalmic and dental care is advisable when the cat cry syndrome.
Cat cry syndrome: History
The cat cry syndrome (CRI-du-Chat syndrome) can favorably influence in his course by early consistent treatment and support measures. These include early mental and physical support (including a speech support) as well as an individually tailored, lifelong physical therapy and occupational therapy. A continuation of the support measures and an additional period of vocational training are in the cat cry syndrome also have the childhood also invaluable. However, remain striking capabilities and performance of people with cat cry syndrome usually limited and their behavior. In the course of their life people depend due to their disability generally to care and support, respectively, where nature and scope vary.
Parents who have a child with cat cry or cri-du-Chat syndrome, a from 10 to 30 percent risk in a pregnancy, that the next child is also affected by the syndrome. Unbedeutsam in the cat cry syndrome for the prognosis in contrast to the trisomy 21 is the age of the mother. The disabilities associated with the cat cry syndrome and other health problems take no so serious course in the majority of affected children, that they negatively affect life expectancy.
Cat cry syndrome: Prevention
You can not prevent a cat cry syndrome (CRI-du-Chat syndrome). Wenn Sie selbst von dem Syndrom betroffen sind (z.B. weil Sie schon ein Kind mit Katzenschreisyndrom haben oder weil bekannt ist, dass Ihr Erbgut die für das Syndrom verantwortliche Veränderung aufweist), möchten Sie vielleicht wissen, wie hoch das Risiko ist, das Syndrom an Ihr Kind zu vererben. Dann können Sie sich im Hinblick auf dieses Risiko der Vererbung beraten lassen, wenn Sie eine Schwangerschaft planen. You are already pregnant, a study of unborn child even before birth in the context of the prenatal diagnosis is possible. If it appears that your child has responsible for the cat cry syndrome changes of the genetic make-up, you have the possibility to opt for a termination of pregnancy for medical reasons. In case it can help you to contact a special self-help or Observatory.
