Treatment of the syndrome

Is Cri Du Chat Syndrome Inherited?

•Most cases of cri du chat syndrome are not inherited.
• The chromosomal deletion usually occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development.
•People with cri du chat typically have no history of the condition in their family.
•About 10 percent of people with cri du chat syndrome inherit the chromosome with a deleted segment from an unaffected parent. In these cases, the parent carries a chromosomal rearrangement called a balanced translocation, in which no genetic material is gained or lost.

Treatment :
•Gene therapy is in its infancy and no techniques have yet been developed to treat these types of large chromosomal abnormalities.
•however there is therapy to help the child achieve his or her developmental potential.
•Early intervention programs, using a variety of therapies and educational strategies, focus on enhancing physical, intellectual, sensory and social development and have been shown to greatly improve the future outlook for the child.

•Early Intervention programs should include:
•Physiotherapy
•Speech Therapy
•Occupational Therapy
•Behavioural management (if necessary)

•Since most children with the syndrome experience severe speech development problems, speech and language therapy are vital.

•The early introduction of alternative means of communication, including a sign language such as Makaton along with a pictorial symbol system, will enhance the child's speech development, language acquisition and behaviour.

•Children with cri du chat syndrome are usually keen to communicate and many will develop their own signs and gestures to get what they want often prefering these to the more difficult formal signs.

•Children who cannot communicate effectively experience a great deal of frustration and behviour problems can develop as a result.
•Improving a child's ability to communicate by any means not only helps them to make their needs known,
• but also helps them to develop intellectually and socially, improving the quality of their lives immeasurably.

Recent Research:

•Research in the past has been concentrated in the area of medical genetics with very limited investigation of the developmental and behavioural aspects of the syndrome.
•The gene locations for the cry and the other features were found to be on separate bands of the chromosome
•Developmental researchers have been collaborating with genetic researchers for a number of years in an attempt to define how the varying genetic combinations (genotype) occurring in this syndrome affect the development and features a particular individual displays (phenotype).
•This collaboration assists the geneticist to track down the location of particular genes and identify their activity. In the future it is hoped that it will help developmental specialists to predict how severely a particular child's development will be affected. This is not possible with our current level of knowledge.