Cri Du Chat Syndrome: What Do You Need To Know About This Structural Chromosome Abnormality?

Cri du chat syndrome is a just one of many rare genetic disorders that can occur as the result of abnormal development of the egg or sperm. The disease can also happen in a small number of cases when one parent passes on a different form of chromosome to the child. It involves a missing short arm of the number five chromosome. The term “cri du chat” actually means “cry of the cat” in French and infants born with this disorder will cry in a high pitched noise that is likened to a cat meowing.

First detected by geneticist Jerome Lejeune, the disease was identified in 1963. Incidentally, he is the same individual who uncovered the genetic abnormality responsible for causing Down syndrome.

What Are The Symptoms?

In addition to a distinctive cat-like cry, other symptoms that occur with Cri du chat syndrome include:

• Serious cognitive, motor and speech impairments and/or delays
• Feeding issues tied to swallowing and sucking problems
• Low birth weight and delayed or poor growth
• Wide set eyes
• Behavioral issues such as ADHD, aggression, temper tantrums, and repetitious movements
• Smaller head and jawline
• Unusual facial features that change with time

Less frequently seen with cri du chat are cleft palate and lips, intestinal malrotation, inguinal hernia, hip dislocation, horseshoe kidneys, and hyperextensible joints. In late childhood and adolescence the child can have greater significance in intellectual disabilities, facial features may coarsen, severe malocclusion and curvature of the spine could also happen.

As females with cri du chat syndrome reach puberty there can be development of secondary sex characteristics and menstruation can occur at the usual time. The genital tract in females is usually normal, expect for some having a heart-shaped uterus. Males can have smaller testicles, but it is not thought to effect spermatogenesis.

How Is Cri Du Chat Syndrome Diagnosed?

Cri du chat is diagnosed through a series of different tests. A doctor might perform a physical examination and it could show an inguinal hernia, diastasis recti or a separation in the muscles of the stomach, low muscle tone, an extra fold of skin over the inner corner of the eyes and problems in the folds of the outer ear. 

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Diagnosis can also be based upon a baby having a distinctive cry and certain physical issues. The symptoms are quite easy to witness in a baby and typically an affected child can be diagnosed by a doctor or nurse. If the diagnosis is positive, it can be worthwhile for the parents to seek genetic counseling and testing to get more information about the disease.

Chri Du Chat Syndrome: Treatment Options

Treating cri du chat syndrome can be extremely difficult because there is no medication or surgical procedure that can alleviate the symptoms. Some physicians will do testing to determine the level of mental impairment a child has, in order to decide how to best treat it. 

Mental retardation could be more or less severe than originally thought and dealing with a child that has special needs can be very difficult. Most parents, without being properly educated about the condition, are not in a position to treat the symptoms and issues that happen.

As a child grows into a teen and becomes an adult, regular counseling and therapy should be explored. Physical and occupational therapies can help a child to learn how to communicate better and teaches them living skills. It’s not impossible for a child with cru di chat to learn how to lead a productive and functional life, it just takes an abundance of patience and resources. If parents cannot afford special schooling, it’s important to find places that offer scholarships or special tuition programs.

With any type of disability, it’s crucial to provide a child with the ability to socialize, because it can increase the chances of better development. There are a number of special tests and therapies which provide a youngster with the opportunity to boost their learning abilities.

Dealing With Complications Of Cri Du Chat Syndrome

If a child with cri du chat is not given the chance to learn and develop as a normal individual, it can lead them to being unable to care for themselves as an adult. Basic life skills such as attending to hygiene and eating can be learned. The inability to function in normal society can present a very real complication, but with the right therapy it does not have to be. If the individual receives assistance he or she can learn to speak, behave and adapt to the outside world accordingly.

Prognosis

A child that receives a diagnosis of cri du chat syndrome can lead a normal, healthy and happy life. Many parents who receive a diagnosis of this disease for their child will panic and feel hopeless about the future, but it’s vitally important to remember that every case is unique and there are many ways to deal with the minor problems.

It’s true the effects this condition will have on a child will vary, but almost all will have a certain degree of intellectual disability, delayed speech and slowly developing motor skills. Although problematic behaviors aren’t unheard of, the children with cri du chat are usually loving, sociable, and bright and have a great sense of humor.

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The life expectancy with this disease cannot be predicted, however it should be mentioned it could result in a shortened life span because of possible serious health complications.