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Cri Du Chat Syndrome

Cri Du Chat Syndrome Poster Child
Beth Sweeney

Cri Du Chat Syndrome Poster Child
Philipp Klages

Introduction

Cri Du Chat (CDC) is a rare genetic disorder that is caused by a missing piece (deletion) in the short arm of chromosome 5 (also known as 5p minus syndrome). Approximately 50 to 60 children are born each year in the United States with CDC. It is thought to be one of the most common human deletion syndromes with an occurrence rate of 1 in 20,000 to 1 in 50,000 live births. CDC was first identified in 1963 by Dr. Lejeune, the same physician who first wrote about Down syndrome.

 

Features and Characteristics

 

Diagnosis

The cry that is associated with CDC is so distinct, physicians can often make a diagnosis before a chromosome analysis is even completed. However, chromosome testing is used for a definitive diagnosis.

 

Treatment

There is no cure for 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 provide optimism to parents regarding the capacities of their children, in that they can understand more complex language than what their expressive skills would suggest. Some children can learn to express themselves using short sentences, sign language, and/or gestures.

 

What to Expect

Most children will likely need ongoing support from parents, teachers, therapists and medical professionals to help them reach their full potential. Although some individuals with CDC may experience serious medical conditions, most individuals will have a normal life expectancy. Many adults with CDC will be able to master self-help skills.

 

Personal Stories

Beth was born on June 1, 1998. She is a beautiful little girl and weighed in at 5 lbs. 14 oz. When Beth was born, she had a very high-pitched cry and I thought something was wrong because of it. But, I decided I was just being silly, that nothing was wrong, and that she was just going to have a high voice. The day after she was born, the pediatrician came to see me. Since Beth is my second child, I knew immediately something was wrong because the pediatrician doesn't come to see you normally. He told us that they suspected Beth had Cri Du Chat syndrome because of her high-pitched cry and some of her physical characteristics. I was very upset to say the least; all I really remember the doctor saying was this causes mental retardation and some children with Cri Du Chat never walk or talk.

We brought Beth home, only to end up going back to the hospital in 6 days because she had jaundice and was dehydrated because she wasn't eating enough. While she was in the hospital, the results from the chromosome test came back positive - Beth does have Cri Du Chat syndrome. At that time, we also found out that the ductus arteriosis did not close in her heart. She was given medication to close it, but that didn't work. The next few months were scary and hectic. We saw several doctors and had several tests done. We found out during this time that Beth has kidney reflux. This means the urine goes back up from the bladder into the kidneys, which can cause an infection.

Beth had patent ductus arteriosis (PDA) corrective surgery on December 1, 1998 (her 6 month birthday - what a birthday present!). It was the scariest day of my life. She came through with flying colors and was like a new child the next day. Before the surgery, Beth slept the majority of the time. After the surgery, she was awake most of the time. Beth has had physical therapy, occupational therapy and speech therapy since she was just a few months old. She is now a year old and a very happy child. She reaches for and plays with her toys; she even has a favorite toy. She loves to watch her brother play and has an infectious laugh. Beth is sitting now with very little support and we hope that she will be able to sit with no support in the next few months. We love Beth dearly and Cri Du Chat syndrome is simply part of who she is. If you get a chance please feel free to visit her web site at http://members.aol.com/Jobewonone/Beth.html. - Tammy Sweeney

Philipp is now 13 months old. He was diagnosed with CDC when he was 4 weeks old. We got in touch with the German support group and the international CDC community the same day, which was very helpful. He also has a double lip-palate cleft. Philipp was very restless until February ‘99; he used to cry a lot and did not need much sleep. This situation improved earlier this year after his first cleft surgery in December ‘98. He now laughs a lot and enjoys playing with his tons of toys. He also likes to be in groups and enjoys being in water.

Currently, we go to therapy appointments 2 times a week (occupational therapy and physiotherapy). Once a month, a special therapist is coming to our home to improve Philipp’s eye contact. Philipp does not like taking food with a spoon, therefore, we are still feeding with the bottle. However, we will start on oral therapy in June ‘99. In addition to the therapies, we see different specialized doctors 2-3 times a month, taking care of his cleft and problems associated with the cleft (ear tubes, etc.). The main problem is sleeping and feeding. However, Philipp is a healthy kid with no real sickness. He develops slow but he is doing fine and starts his first steps with crawling. - Andy Klages

 

Resources

If you are interested in meeting other parents and individuals who are involved in raising a child with Cri Du Chat, the following chatroom is available:

http://virtualnurse.com/Chat/Cri-Du-Chat/index.html

For more information on Cri Du Chat, visit these helpful sites:

 

The Disorder Zone has been created for educational purposes only and is not intended to serve as medical advice. The information provided in The Zone should not be used for diagnosing or treating a health problem or disease. It is not a substitute for professional care. If your child has any health concerns, please consult your health care provider.

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