Cri Du Chat Syndrome

Cri Du Chat Syndrome By: Frances Dannenbrink, Hanna Kuhn, and Lindsey Lee

Inheritance • Not inherited • A mutation where a piece of chromosomal material is missing from a particular region on chromosome 5 • It’s an autosomal genetic disorder

Karyotype

Symptoms • Cat-like cry in infants • Mental Retardation • Very small head • Slow growth • Doesn’t gain weight easily • Hypotonia ( poor muscle tone)

Diagnosis • For infants Cri Du Chat Syndrome is strongly suspected if the characteristic cat-like cry is heard and other symptoms are shown • For older people the cat-like cry is less noticeable, which makes the diagnosis harder for older people • Chromosomal analysis and blood tests provide the definitive diagnosis • FISH (fluorescence in-situ hybridization) helps detect small deletions of chromosomes • Cri Du Chat can be detected during pregnancy if the mother goes in for amniocentesis testing

Treatment • No known treatment • Behavioral modification therapy is used to control head-banging, hyperactivity, and other childhood problems.

Genetic Counseling • They would explain the ways in which this syndrome occurs. They would advise them of the current tests available to them to check whether or not they have an abnormal chromosome 5, and what probability they and their children have of having another child with the syndrome.

Current Research • Still no treatment or cure • Nothing new about the symptoms and diagnosis have been found

Life Expectancy • Life expectancy is unpredictable, but the oldest person recorded with Cri Du Chat is 60 years old.

Mindy We interviewed the mother of this baby girl, Mindy. Although she looks normal here, she has had many severe health problems and has had to attend many therapist clinics to try to make her life easier on her and her family. She has been dependent on her mother for everything until she got sick and moved her into an assisted living facility. She is now 37 and tries to live everyday to the fullest and has learned to enjoy life even though she is constantly in pain.

Works Cited • Antle, D. Patrick. “Initial Discovery and Clinical Aspects.” Cri Du Chat Syndrome. 2002. Cri Du Chat Syndrome. 25 Jan. 2009 <http://fs6.depauw.edu/~cfornari/DISGEN/CriDuChat%20Website/images/criduchat_karyotype.jpg > • Antle, D. Patrick. “Initial Discovery and Clinical Aspects.” Cri Du Chat Syndrome. 2002. Cri Du Chat Syndrome. 25 Jan. 2009 (<http://fs6.depauw.edu/~cfornari/DISGEN/CriDuChat%20Website/images/cri-du-chat_diagram.gif> • Christie, Margarette. “Cri Du Chat Support Group of Australia.” Cri Du Chat Support Group of Australia. 18 Mar. 1999 Cri du Chat Support Group of Australia Inc. 25 Jan. 2009 <http://www.criduchat.asn.au/criduchat/Images/brada.jpg >

Works Cited Cont. • Gauci, Patrick. “Joy Crystal Gauci.” Cri Du Chat Support Group. (Creation date and organization that posted it not mentioned). 25 Jan. 2009 http://www.cridchat.u-net.com/gallery/j/joy_1.jpg • Ishmael, Holly Ann. “Cri Du Chat Syndrome.” Health A to Z.14 Aug. 2006. Gale Group. 25 Jan. 2009<http://www.healthatoz.com/healthatoz/Atoz/common/standard/transform.jsp?requestURI=/healthatoz/Atoz/ency/cri_du_chat_syndrome.jsp> • Jefferies, Bruce. “Monique Jefferies.” Cri Du Chat Support Group. (Creation date and organization that posted it not mentioned). 25 Jan. 2009 <http://www.cridchat.u-net.com/gallery/m/monique_1.jpg>

Works Cited Cont. • Margret . E-mail interview. 25 Jan. 2009 • No specific author. “Cri Du Chat Syndrome.” Genetics Home Reference. 23 Jan. 2009. U.S. National Library of Medicines. 25 Jan. 2009 <http://ghr.nlm.nih.gov/condition=criduchatsyndrome> • No Author listed) “UK Cri Du Chat Syndrome Support Group. ’ ( Both web page and web site Name ) May 2008 Cri Du Chat Support Groups. 25 Jan. 2009 <http://www.criduchat.co.uk/gifs/debbie.jpg> • Sun Devil. “Causes and Symptoms.” All One needs to know about Cri DU Chat. (no last up dated date is shown). Sundevil10684@yahoo.com. 25 Jan. 2009 http://simons16.tripod.com/

Cri Du Chat Syndrome