Cri Du Chat Syndrome Essay, Research Paper

Cri Du Chat Syndrome

(Cry of the Cat)

By Chase Kuntz

The Cri du Chat syndrome is the result of the deletion of segment 5p15.2 in the short arm of chromosome number five. No one is quite sure on how this deletion occurs, or even why it occurs. This deletion leads to deformities and mental retardation in the child. One of the ideas though is that it may happen due to slight problems with chromosome 5 in either parent.

The physical appearance of a child with cat cry syndrome is one that can become very grotesque. The child develops a small head, a high palate, a round face, a small receding chin, widely spaced eyes, a low nasal bridge, and folds of skin over the upper eyelid (such as a kid with Trisomy 21). When the child is born, it lets out a high-pitched piercing cry (like one of a kitten). That is how the syndrome gets its name. As for the internal organs, there are usually no major problems except in a few cases. As the child matures the high-pitched cry will go away and his/her voice will deepen (slightly). Also when the child gets older the face becomes elongated, the nasal bridge heightens, and the eye-folds become less distinct.

The muscle tone of infants is often poor; they also have difficulty sucking and swallowing, and have gastric reflux (aka- heartburn). Chronic constipation is also a problem with CDC patients. Children may also have many ear, and upper respiratory problems. The patients may possibly have mild visual impairment, hearing loss, and minor skeletal abnormalities. Life expectancy cannot be predicted but some live as long as a normal human although many do have shortened life spans.

The children that are born with CDC are retarded yet still very intelligent. The children frequently have delayed motor and speech skills but can usually obtain both by early childhood. Only a small percent of patients have severe problems with these skills. Problematic behavior does occur, but CDC kids are kind, loving, and sociable almost all of the time.

Although it would be great, gene therapy has not been developed just yet. Though the syndrome can t be cured doctors can treat most of the medical problems. Early speech, physiotherapy, and occupational therapy help the child develop greatly into his/her full potential. Education for kid with cat cry syndrome is more often than not public, Although some do attend to private schools and pre-schools.