Cri Du Chat
Cri du chat syndrome is a genetic disorder caused by partial deletion of chromosome 5p. It is a rare genetic condition that affects one in approximately 50,000 children.
Infants with this condition often have a high-pitched cry that sounds similar to a cat-cry. As such, its name derives from the French term ‘call of the cat’ referring to the high-pitched cry.
Cri Du Chat Syndrome Characteristics
Cri du chat syndrome is characterised by microcephaly (small head circumference), hypotonia (low muscle tone), low birth weight, severe developmental delays and intellectual disability (Tyagi, Kumar, Kumar, Singla & Singh, 2010). Common physical characteristics of cri du chat include distinctive facial features, such as wide-set eyes, strabismus (where the eyes are not properly aligned), low-set ears, mandibular microretrognathia, high palate but rarely cleft, variable malocclusion (frequently anterior open-bite) and a rounded face. Some children with cri du chat syndrome may be born with heart defects and minor hearing impairments.
Communication
Children with cri du chat syndrome learn in different ways, but most will have some level of intellectual disability and communication difficulty. Because of hypotonia, children with cri du chat syndrome may have motor speech difficulties whereby sounds may be harder to articulate and produce. Low muscle tone may also contribute to problems with early feeding and oral motor coordination (Cornish & Pigram, 1996).
In particular, the acquisition of language (expressive and/or receptive) may be delayed thus affecting overall communication. Not all individuals with cri du chat are able to develop verbal language, and as such use sign to convey meaning and intent. Receptive language, however, is remarkably better than expressive language, yet both are still delayed (Cornish & Pigram, 1996). Speech Pathologists will generally conduct a language assessment (using either formal or informal tests) to look into each child’s strengths and weaknesses. The Speech Pathologist will then decipher communication goals to enhance a child’s participation in everyday activities. For any child with a disability, early intervention is imperative towards achieving optimal communication.
References
Cornish, K.M., Pigram, J. (1996). Developmental and behavioural characteristics of cri du chat syndrome. Archives of Disease in Chilhood, 75, 448-450.
Tyagi, S., Kumar, S., Kumar, A., Singla, M. & Singh, A. (2010). Cri Du Chat Syndrome – A rare genetic disorder: An overview. Journal of Chemical and Pharmaceutical Research, 2(2), 604-609.
For information about the Cri Du Chat Support Group of Australia click here.
