Cri-du-Chat is a relatively rare genetic condition with an estimated incidence of between 1 out of every 25,000 births and 1 out of every 50,000 births. There are more children being diagnosed now that genetic testing is more accurate. Approximately 80% are caused by a de novo deletion in the child, 10-13% by a balanced translocation in either parent, and 7-10% result from rare genetic anomalies. It is thought that more girls than boys are born with Cri-du-Chat, with three girl births to two boy births. It is possible to detect Cri-du-Chat Syndrome with amniocentesis or CVS in the first trimester of pregnancy, but at this point it is not possible to tell how severely affected the baby will be. Cri-du-Chat is an extremely variable syndrome, ranging from very mild to very severe, so researchers believe that understanding how the syndrome will affe

In 2001, Cerruti Mainardi et al. identified a critical region at 5p15.2 for dysmorphism and mental retardation and a separate region at 5p15.3 for the cat-like cry. They also suggested a separate region at 5p15.3 for speech delay. Recently, in 2003, Zhang et al. suggested that haploinsufficiency for telomere maintenance in vivo may be one genetic element contributing to the phenotypic in Cri-du-Chat syndrome. Researchers such as Dr. Kim Cornish in the UK, Dr. Joan Overhauser and Dr. Andy Simmons in the United States, and Professor Erik Niebuhr in Denmark are making vital discoveries nearly every day. However, until gene therapy is better developed, the best method of dealing with Cri-du-Chat Syndrome is still the multi-therapy approach. Cri-du-Chat Syndrome is an unfortunate but livable disease, and children with the Syndrome are capable of leading full, happy lives and far exceeding expectations with only a little help from their friends and families.

Treatment of Cri-du-Chat is best approached by using several combined standardized therapies and educational strategies, focusing on enhancing physical, intellectual, sensory, and social development. Early Intervention programs should include physiotherapy, speech therapy, occupational therapy, sensory integration (if available), and behavioral management if necessary. Since most children with Cri-du-Chat syndrome experience severe speech delay, speech and language therapy are vital. The early introduction of alternative means of communication, including a sign language along with a pictorial symbol system, wil

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