CRI DU CHAT SYNDROME
Definition
Cri du chat syndrome (CdCS or 5p-) is a rare genetic disorder in which a variable portion of the short arm of chromosome 5 is missing or deleted.
Symptoms vary greatly from case to case depending upon the exact size and location of the deleted genetic material. Common symptoms include a distinctive cry that resembles the mewing of a cat, characteristic facial features, slow growth, and microcephaly, a condition that indicates that head circumference is smaller than would be expected for an infant's age and sex. Affected children also exhibit delays in the acquisition of skills requiring the coordination of muscular and mental activities and moderate to severe intellectual disability. Additional symptoms affecting different organ systems of the body can also occur. Most cases are thought to arise from spontaneous genetic errors very early in embryonic development. It is not believed to be a hereditary condition in any way. 1
Symptoms of cri du chat syndrome vary from case to case. The characteristic high-pitched cry associated with this disorder is present as early as a child's first few weeks, and grows less pronounced as the child ages.
Distinctive facial features may include an abnormally round or plump face, a broad nasal bridge, widely spaced eyes, abnormally small distance from the upper lip to the nose, a cleft lip, and other distinct features. As affected infants age, their face may lose its plumpness and become abnormally long and narrow.
Affected infants may have difficulties feeding due to low muscle tone, troubles sucking and swallowing, and gastreoesophageal reflux disease. In one study, only 50% of children with cri du chat were able to feed themselves with a spoon by the age of 3.5. 1
Instructional Strategies
Occupational Therapy: Occupational therapy benefits fine motor, visual, and sensory integration to assist the child to maximize their skills, develop new skills, and be able to relate more effectively to their environment. 2
Physical Therapy: Physical therapy assists in teaching a child with 5p- to learn to sit, stand, walk, and improve other fine motor skills. The goal of physical therapy in this regard is to develop optimal physical movement. 2
Speech Therapy: Speech therapists work with children to aid in swallowing food and assist in correcting speech problems. Many therapists assist children with 5p- to communicate via sign language, technology assisted communication, and other alternative communication methods. 2
Special education efforts for children with 5p- will vary depending on the severity of the disorder and the child's specific symptoms. Cooperative efforts must be made to ensure all aspects of the child's fine-motor and speech issues are addressed.
Useful Websites
Wikipedia.org entry
https://en.wikipedia.org/wiki/Cri_du_chat_syndrome
National Human Genome Research Institute
https://www.genome.gov/19517558/
5-p Society
Cri du Chat Syndrome Documentary
Research
1. Cri du Chat Syndrome https://rarediseases.org/rare-diseases/cri-du-chat-syndrome/
2. About 5P- Syndrome https://fivepminus.org/about-5p-syndrome/
3. All images courtesy of the 5P- Society homepage