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Rubinstein-Taybi Syndrome

Rubinstein-Taybi Syndrome Poster Child
Brianna Zimmerman

Introduction

Rubinstein-Taybi syndrome (RTS) is a genetic multi-system disorder characterized by facial abnormalities, broad thumbs and great toes, and mental retardation. It was first described in 1957 and was identified as a recognizable syndrome in 1963 by Jack Rubinstein and Hooshang Taybi.

In many cases, RTS is caused by a deletion or mutation in the short arm (p) of chromosome 16. RTS is found equally in both males and females and is considered to be a rare syndrome, occurring in 1 out of every 100,000 to 300,000 live births. There is, however, an increase in the number of cases being reported each year, with over 600 currently reported in medical literature. Most cases of RTS occur randomly, or for no apparent reason.

 

Features and Characteristics

There are many characteristics associated with RTS. Not every individual has all the characteristics, however, the following is a list of traits that have been reported:

 

Diagnosis

The diagnosis of RTS can be made following a complete clinical exam (including X-rays of the hands and feet for bone malformations, a CT-scan or MRI for characteristic brain malformations, an EEG for electrical activities of the brain, and an EKG or echocardiogram for congenital heart defects). Furthermore, RTS may be confirmed by FISH studies, which could possibly detect a deletion or mutation in chromosome 16p. While some children with more severe characteristics can be diagnosed at birth, others who are more mildly affected (lacking severe medical problems, extreme physical characteristics, or moderate to severe mental retardation) may not be diagnosed until adolescence.

 

Treatment

Individuals with RTS can have symptoms ranging from mild to severe. Therefore, treatment programs for children with RTS must be developed on an individual basis. Most children with RTS will benefit from an early intervention program with an emphasis on speech therapy, as speech is typically an area of slower development. In addition, some children with RTS will not be able to speak verbally and may need to learn sign language as an alternate/additional form of communication. Some children with skeletal abnormalities may also benefit from physical and occupational therapy.

 

What to Expect

Individuals with RTS are usually happy, social people. Children with RTS love to touch anything and enjoy manipulating objects. It is said that they typically enjoy books, water, people, and music. Children with RTS usually will learn to crawl between 1 and 2 years of age and walk between 2 to 4 years of age. Their receptive skills are typically much higher than expressive skills (they can understand most of what is said to them but may not be able to express their needs and wants).

Most children with RTS will need to be in a special education program and will need assistance with self-help skills such as feeding and dressing.

 

Personal Stories

Our daughter, Brianna Danielle, was born at Ephrata Community Hospital on Sunday, May 2, 1999. She weighed 6 lbs. 4 oz. and was 20 inches long. She had a headful of black hair and appeared to be the picture of a perfectly healthy child. However, during the night she had trouble breathing and they heard a heart murmur. So the nurses came and woke me to tell me Brianna would need to be transferred to Hershey Medical Center (a bigger hospital with more experienced doctors). They wanted her to be seen by a pediatric cardiologist. After many tests, they called and informed me that she would need heart surgery. She had a PDA ligation done when she was 4 days old. They also diagnosed her with RTS when she was 1 day old. I felt so afraid and lost! I had never heard of this syndrome and the doctors didn't know much about it either.

When she was 2 weeks old, we were planning to take her home but her oxygen saturation kept dropping when she was drinking her bottle. So they ran tests and found out she was aspirating formula. Her epiglottis in her throat hadn't matured. On May 26, she had surgery to insert a G-tube and also had a stomach wrap done for reflux. After 1 month in the NICU she came home to live with us on June 4. We were so happy to have her home. On August 24 she was admitted to the hospital for surgery for a tethered cord. She was released 2 days later.

Brianna is now 9 months old and she is delayed but does very well with the help of her therapists. She can sit with assistance. She can roll from side to side and has rolled from her back to her belly, but not consistently. She stands up at furniture very well but gets tired quickly and will sit without warning. We especially love to see her smile; it lights up her whole face and cheers others that she meets. She is a very pleasant child and we adore her and thank the Lord for blessing our lives with such a special child.

We have found great support through the RTS e-mail list. The Internet is the only place where we could find information on RTS and it has helped us greatly. I would advise other parents to get involved with the e-mail list as soon as they can because it is a great support system. - Dan and Kris Zimmerman

 

Resources

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

Rubinstein-Taybi Syndrome E-mail List - To subscribe, send a message to LISTSERV@MAELSTROM.STJOHNS.EDU, leave the "Subject" line blank and in the body of the message type: SUBSCRIBE RTS. You will then receive a confirmation from the list with further instructions.

For more information on Rubinstein-Taybi syndrome, please see the following references:

 

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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