Cri Du Chat Syndrome

Cri du chat syndrome is a rare genetic disorder that is named for the characteristic cat-like sound that affected children make when they cry. Cri du chat is a French term meaning 'call of the cat' or 'cat-cry'. Due to problems with the development of the larynx and nervous system, the most common symptom of this disorder in infants is a cry that resembles a kitten's meow. This condition is more common in females, but can strike any gender or ethnicity and causes a number of additional symptoms and side effects, both physical and mental.

Symptoms of Cri Du Chat Syndrome

Symptoms of cri du chat syndrome vary by individual, but are common among the majority of those who suffer. The characteristic cry of a kitten is usually lost by the age of 2, but other symptoms may persist for a lifetime. This disorder includes several facial abnormalities, as well as physical, behavioral and sexual defects. Following is a list of symptoms that may affect children born with cri du chat syndrome:

  • cry that resembles a cat's call
  • feeding problems due to difficulty with swallowing or suckling
  • low birth weight
  • poor growth
  • excessive drooling
  • constipation
  • severe delays with speech, cognitive functionality and motor skills
  • abnormal facial features, such as a down-turned mouth, low-set ears, small head circumference, down-slanting eyelids, widely-spaced eyes or an undersized jaw
  • heart or kidney problems
  • deformities of the uterus or testes (research shows that the reproductive system is usually unaffected by these deformities)

Causes of Cri Du Chat Syndrome

The cause of cri du chat syndrome is thought to be due to a mutation or missing segment of a particular chromosome, called chromosome 5. A very small percentage of affected children have received the mutation from a parent, but most cases of this disorder are random and occur during development of the egg or sperm. The cause of mutation of this particular chromosome is still unknown.

Diagnosis of Cri Du Chat Syndrome

Cri du chat syndrome can often be diagnosed based upon the presence of common symptoms which identify it as the cause. Physicians and other medical personnel will observe behavior and conduct appropriate testing to determine physical effects and rule out other conditions which may be similar in nature. While no one specific test can determine if symptoms are caused by cri du chat syndrome, evidence of particular medical conditions, visual observance of physical abnormalities and testing of behavioral and cognitive functionality can help to determine an appropriate diagnosis.

Treatment for Cri Du Chat Syndrome

There is no cure for cri du chat syndrome. Treatment options will vary by individual and severity of symptoms. Genetic counseling and genetic testing can be of benefit to families who include members with this disorder. Since cri du chat syndrome can affect many different areas of the body and nervous system, several forms of simultaneous treatment will likely be recommended. Below is a list of possible treatment options to help with ongoing issues that may affect patients with this disorder:

  • Physical therapy - children with poor development of motor skills or physical deformities may benefit.
  • Speech, sound and occupational therapy - speech impediments, hearing difficulties and coping with the effects of this disorder may be improved.
  • Behavioral therapy - problems with self-esteem, aggression, anxiety or other societal issues can be corrected with exercises and activities offered by this type of therapy.
  • Medication - underlying mental conditions can be treated with certain types of medication.
  • Surgery - children with more severe ailments, such as heart problems, bone displacement or kidney malformations may require surgical treatment.
  • Monitoring and surveillance - observing and recording changes in physical condition, behavior and mental condition may be required to continue with the best forms of treatment available.