Diagnosis and Regulation of Cri du chat syndrome

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Cri du chat syndrome, also known as 5p minus  / 5p deletion syndrome or Lejeune syndrome, which is a type of rare genetic disorder. It is originated from a French term cat which means cry or call of the cat, referring to the characteristic cat like cry of affected children. This disorder is characterized by intellectual disability and late growth, low birth weight, little head measure, weak muscle tone in early stages and typical facial features. While it is a hereditary condition, most cases are not acquired. It is found in all ethnic backgrounds and is more common in females by 4:3 ratios. Jerome Lejeune, a geneticist, was discovered this in 1963. In 80% of the cases, the affected chromosome comes from the father’s sperm rather than the mother’s egg.

Cause

Cri du chat is one of the most common syndromes caused by deletion of the short arm of chromosome 5. This chromosomal change is written as 5p-. The size of deletion varies among affected individuals. It is possible to get through heredity. It is very improbable for one couple to have more than one child with this system. Here chromosome breaks happen while male or female gamete is still developing. When they become fertilized, the child will develop with that syndrome.  The parent themselves does not have the break in any other cells in their body, so that they do not have the syndrome themselves.
The parent themselves; however, does not have the break in any other cells in their body; they do not have the syndrome themselves. The break is usually so rare an event that it is even unlikely to happen again, should the same parent have another child. It is possible though, for a child to inherit a broken chromosome from a parent who also had Cri du chat syndrome.

Signs and symptoms
Children born with this syndrome are commonly small at the time of their birth. They may also respiratory problems as well as a larynx which does not develop. As an infant, the child’s cry is described as high pitched cat-like cry, mental retardation, widely-spaced eyes (hypertelorism), Weak muscle tone (hypotonia) in infancy. Most of them have difficulty with language. Half of children acquire applicable verbal skills to communicate. Some individuals learn to use short sentences, while others express themselves with a few basic words, movements, or sign language.
Both children and adults with this syndrome are usually friendly and happy, and enjoy public communication. Other characteristics may include feeding complications, delays in walking, hyperactivity, scoliosis, and significant obstruction. A small number of children are born with serious organ defects and other severe medical conditions, while most individuals with cri du chat syndrome have a normal life expectancy.

Diagnosis

The diagnosis of this syndrome is usually made in the hospital at birth. A health care provider may note the clinical symptoms accompanying with the condition. It is strongly suspected if the characteristic cat-like cry is heard and other symptoms are shown. Moreover, analysis of the individual’s chromosomes may be performed. But for older people the cat-like cry is less noticeable, which makes the diagnosis harder for older people. The deletion portion of chromosome 5 may be seen on a Chromosomal analysis and also blood tests provide the definitive diagnosis. FISH(Fluorescence in-situ hybridization) helps to detect small deletions of chromosome. It also can be detected during pregnancy if the mother goes for amniocentesis testing. GTR (Genetic Testing Registry) provides information about the genetic test condition.

Management

However, there is no specific treatment available for this syndrome. Children can go through therapy to improve their language and behavioural modification(for hyperactivity, short attention span, aggression) and learning (special education). There is no presently identified method for prevention as well. Parents who have a balanced translocation associated with the disorder can go to genetic counsellors who can help them understand the risks of having a child.





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