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Cornelia de Lange Syndrome

Cornelia de Lange Syndrome Poster Child
Madalyn Gilchrist

Cornelia de Lange Syndrome Poster Child
Ketchel Clements

Introduction

Cornelia de Lange syndrome (CdLS) is a disorder that results in several physical and developmental abnormalities. The cause of CdLS is unknown at this time, however, it is thought that the disorder may be of a genetic nature (possibly a faulty gene on chromosome 3). Most cases are sporadic, however, there has been documentation of affected siblings, which would suggest inheritance. It is said to occur in 1 in 10,000 to 1 in 30,000 live births and is found equally in males and females. Although this syndrome is considered rare, experts agree that it is likely underdiagnosed.

CdLS was first described in 1916 by Dr. W. Brachmann and was later identified again by Dr. Cornelia de Lange, a Dutch pediatrician, in 1933. Both physicians described children with common symptoms and characteristics (as shown below).

 

Features and Characteristics

There are several physical and developmental characteristics that are associated with CdLS, however, not every individual has all the characteristics. The following is a list of the most common traits:

Delayed Growth - Individuals with CdLS are small in stature, however, they do continue to grow at their own rate and will reach puberty at the typical age. It is said that adults with CdLS will reach a height of somewhere between 4 and 5 feet.

Developmental Delay - There is a wide variation in the degree of intellectual development in individuals with CdLS. Some have been considered severely developmentally delayed, whereas, others may have normal intelligence. In fact, it has been noted that they function quite well with everyday self-help skills (eating, toileting, and dressing). The most severely affected area of development is speech. Many children with CdLS will not learn to speak fluently, however, with encouragement and appropriate services, they may be able to learn several words. On the other hand, children with a more mild form of CdLS can learn to speak well around the age of 5 or 6 years. Almost all children with CdLS can learn to walk between ages 2 and 5 years.

Behavior - Although there are behaviors seen in children with CdLS that are seen in "typical" children, there are also a group of common behavioral characteristics seen in many children with the syndrome. For example, self-injurious behavior and aggression are commonly seen among children with CdLS. This type of behavior can result in picking at the eyelids, hitting the face, biting the arms, fingers, or lips, or picking and gouging the skin. These behaviors, however, are thought to be the result of feelings of discomfort or frustration. Behavior management programs can be beneficial to many of these children.

The current literature regarding CdLS describes many children having autistic-like behaviors such as diminished ability to relate socially, infrequent facial expression of emotion, rejection of physical contact, little reaction to pain, repetitive movements, inflexibility to change, and preference for structured environments. However, parents frequently report that their children are happy, charming, love to laugh and giggle, and love to interact with others.

 

Diagnosis

There is no genetic or biotechnical test for diagnosing CdLS, therefore, a clinical diagnosis is typically made by a genetics specialist. The syndrome is often identified based on the above characteristics. It is said that the facial findings with the greatest diagnostic value are the characteristic eyebrows, long philtrum, thin lips, and crescent-shaped mouth.

 

Treatment

There is no cure for CdLS, however, therapeutic interventions (early intervention, speech therapy, occupational therapy, and physical therapy) can help the child with CdLS reach his or her full potential. Speech therapy may be especially important since even the mildly affected child can have communication delays. Also, it is suggested that one of the most important treatments you can provide to the child with CdLS, is to treat them as you would any "typical" child.

Children with CdLS have been found to have strengths in perceptual organization, visuo-spatial memory, and fine motor skills. Teaching strategies should emphasize using visual methods of teaching (e.g., computers and augmentative communication devices with pictures or symbols) rather than traditional verbal methods of instruction.

 

What to Expect

In the past, many children with CdLS did not live past childhood because their medical needs were not known. Still, a few children may have serious heart problems that may shorten their life span. However, most individuals with CdLS have a normal life expectancy.

Levels of independence vary with individuals who have CdLS. Some will be able to live on their own and become employed, while others will need life long support.

 

Personal Stories

Ketchel was born on May 19, 1997 weighing in at 6 pounds 10 ounces and measuring 19 inches in length. He had a rapid heart rate that put him in the neonatal care unit of our hospital for 5 days. Due to some of his features (ears low on head, simians crease on hand, nipples far apart) and his heart problem, a geneticist tested him for Down syndrome, but the test was negative and we were sent home with a clean bill of health.

The next few months were great. Since Ketchel was our first child, we didn't see any problems. He was sleeping through the night almost from the start. He never fussed much and seemed to be a happy baby. Our pediatrician was concerned because Ketchel wasn't growing fast enough and he wasn't showing up on the growth charts. We were referred to a geneticist and at 9 months of age, he was diagnosed with a mild case of Cornelia de Lange syndrome.

My husband and I were devastated at the time because we didn't see how Ketchel was that different. We got Ketchel involved in an early intervention program (what an excellent program) and he began receiving occupational and speech therapy twice a week. What a difference the therapy made. Ketchel didn't grow any faster, but suddenly he was reaching all of his milestones - crawling at 12 months, sitting up at 14 months, and finally walking at 19 months. He has no speech, but every day he babbles just a little more and they are almost words. He communicates with us by using sign language. He knows about 20 signs, but they come and go. He is a very social child who knows how to use a smile. He loves interacting with other people, adults and children. And he definitely knows how to charm the ladies.

At 2 years old, he only weighs in at 19 pounds and he is about 29-30 inches tall. He fits nicely into 12 months size clothes. He had surgery to descend both testicles (October 97 and April 98), and surgery to have tubes inserted into his tear ducts (April 99). He is going to be tested for reflux, but he has not experienced any real problems as of yet. We have added a special education therapist once a week to work on school skills.

He has been a very healthy, happy boy. Ketchel is a great joy to have in our lives. We believe he will continue to do well and all that really matters is that he keeps on smiling!! - Chris Clements


My name is Kim Gilchrist, and my daughter, Madalyn, has Cornelia de Lange syndrome. At this time, Maddy is 30 months old. She is 31 inches long and weighs in at 20 pounds, 4 ounces. She is an awesome little kid, with a giggle that just won't quit... a far cry from the devastating picture that the medical journals and "specialists" predicted for her life. She is one tough little cookie. She has survived several surgeries, from the minor (ear tube placement) to the major (G-tube and Nissen fundoplication and a heart cath). Through it all, she smiles her sweet grin, and continues to beat the odds.

Maddy is our first (and so far, only) child, so she is spoiled rotten... a mixed blessing. I work out of my home as an insurance consultant part-time (working for an awesome company that understands the needs of my schedule... what a blessing!) Maddy receives physical therapy, speech therapy and occupational therapy from a state-funded early childhood intervention program. When she turns three in November, we will transition her to a school-district based educational program. This transition makes me extremely nervous! The thought of sending my baby to school is hard!

Currently, my husband and I are very involved in planning the 1999 CdLS International Conference, which will be held in Dallas, TX from June 24-27, 1999. We live in Keller, TX, which is about 15 miles from Dallas, and we have been actively fund raising and planning the activities for the conference for about 9 months now. So far, our committee has raised over $52,000 for the CdLS Foundation. It has been a wonderful experience to work closely with other families who have children with CdLS in their lives. Before last September, we had never met another child with the syndrome. Because of the conference planning, we have weekly contact with 6 other families. It is wonderful to be able to walk into a room and see other families who know what you are talking about when you say, CdLS. - Kim Gilchrist

 

Resources

If you are interested in meeting other parents and individuals who are involved in raising a child with CdLS, the following listserv is available:

CdLS-KIDS List - Click here to register: http://www.onelist.com/subscribe.cgi/cdls-kids

For more information on CdLS, 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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