Title: Tech Connect : Cri du Chat Syndrome
Full Citation
Permanent Link: http://ufdc.ufl.edu/CA01300600/00001
 Material Information
Title: Tech Connect : Cri du Chat Syndrome
Alternate Title: Cri du Chat syndrome
Physical Description: Book
Language: English
Creator: University of the Virgin Islands. Center for Excellence in Developmental Disabilities.
Affiliation: University of the Virgin Islands -- Center for Excellence in Developmental Disabilities
Publisher: University of the Virgin Islands
Publication Date: 12/26/2003
Subject: Caribbean   ( lcsh )
Spatial Coverage: North America -- United States Virgin Islands
 Record Information
Bibliographic ID: CA01300600
Volume ID: VID00001
Source Institution: University of Florida
Holding Location: University of Florida
Rights Management: All rights reserved by the source institution and holding location.


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l Islands Univeity
center for Excellence in
Developmental Disabilities

Cri Du Chat Syndrome

Cri Du Chat Syndrome

What is Cri Du Chat Syndrome?

Cri du chat syndrome arises from the absence of
a particular portion of chromosome 5. The ab-
sence of genetic material is called a deletion.
Children born with this deletion in chromosome
5 have a characteristic mewing cry as newborns
that is thought to be caused by abnormal devel-
opment of the larynx (the organ containing the
vocal chords). For this reason, the disorder is
called Cri du chat (or cat's cry) syndrome. In ref-
erence to the deletion and the area where it oc-
curs, the disorder is also called 5p- (5 p minus)
syndrome. Children with this syndrome have
physical abnormalities, language and motor skill
difficulties, and varying degrees of mental retar-
dation. Cri du chat syndrome is a very rare disor-
der. It was first identified in 1963 by Professor
Lejeune, who also identified the genetic cause of
Downs Syndrome. He described the syndrome
after the sound that many of the babies and
young children make when crying.


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Tokyo Medical Unversity

What are the Causes & symptoms of
Cri Du Chat Syndrome?

The deletion on chromosome 5 has several indi-
cators. The primary sign is an infant's high-
pitched mewing cry during the first weeks of life.

This unusual cry is accompanied by low birth
weight, slow growth, and a small head
(microcephaly). Muscle tone is poor (hypotonia)
and possible medical problems include heart dis-
ease and scoliosis (curvature of the spine). Chil-
dren with Cri du chat syndrome have language dif-
ficulties, delayed motor skill development, and mental
deficiencies that vary in severity. Behavioral problems,
such as hyperactivity, may become apparent as the child

How is Cri Du Chat Diagnosed?

The key indicator of Cri du chat syndrome is the charac-
teristic catlike cry of an infant. As the child matures,
this typical sound is lost. A definitive diagnosis is based
on karyotyping. This laboratory procedure involves
separating the chromosomes from a sample of the in-
fant's cells. The chromosomes are then stained and ex-
amined under a microscope. The stain makes changes in
the expected appearance of chromosome 5 noticeable
and demonstrates that genetic material is missing. Cri du
chat syndrome can be detected before birth if the mother
undergoes amniocentesis testing or chorionic villus
sampling. The samples of cells are collected from the
fluid surrounding the fetus and are analyzed for genetic
defects (amniocentesis test) or from the outer membrane
(chorion) of the sac that holds both the fetus and the
fluid chorionicc villus sampling test).

Is There a Cure?

There is no cure for Cri Du Chat syndrome (CDC),
however, with the proper intervention and education,
individuals with CDC can lead full and meaningful
lives. Speech and physical therapy may be particularly
useful for children with CDC. There are varying levels
of cognitive impairment some children can succeed in
a mainstream education, where others will need to be
placed in a special education classroom. A recent study
regarding cognitive function of children with typical
CDC suggests that there was a discrepancy between
receptive language skills and expressive language skills.
The researchers indicate that these findings should pro-
vide optimism to parents regarding the capacities of
their children, in that they can understand more complex
language than what their expressive skills would sug-

gest. Some children can learn to express themselves
using short sentences, sign language, and/or gestures.

What is the future for People with
Cri Du Chat Syndrome?

Most children will likely need ongoing sup-
port from parents, teachers, therapists and
medical professionals to help them reach their
full potential. Although some individuals with
Cri du chat may experience serious medical
conditions, most individuals will have a nor-
mal life expectancy. Many adults with CDC
will be able to master self-help skills.

Both children and adults with this syndrome are usually
friendly and happy, and enjoy social interaction. With
early and consistent educational intervention, as well as
physical and language therapy, children with 5p- Syn-
drome are capable of reaching their fullest potential and
can lead full and meaningful lives.

www cridchat u-net corn

Outreach Programs
* 5 P Minus Society

* Chromosomes Deletion, Inc. (CDO) Rare Chromo-
somes Disorder support and information

JUnive rsitv irginIslands

Assistive Technology Program

St. Thomas, USVI
#2 John Brewer's Bay
St. Thomas, USVI 00802-9990
Tel: (340) 693-1189
Fax: (340) 693-1325

St. Croix, USVI
RR-1, Box 10,000-Kingshill
St. Croix, USVI 00850-9781
Tel: (340) 692-1919
Fax: (340) 692-5599

This project is funded by the U.S. Department ofEducation
( .. of National Institute on Disability and Rehabilitation
Research (NIDRR)

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