What is Rubinstein-Taybi Syndrome (RTS)? Let's understand it simply.

As a mother or father, we are very concerned about every little thing about our child, right? His growth, his appearance, his behavior... We pay attention to all of these things. Sometimes, when we see some small changes in a child's appearance, for example, a slightly enlarged big toe, or even small delays in development, we feel a little scared. At such times, we should be aware of a rare but important genetic condition. That is Rubinstein-Taybi Syndrome.

What is Rubinstein-Taybi Syndrome (RTS)?

Simply put, Rubinstein-Taybi Syndrome is a rare genetic condition that affects several systems in the body. It is abbreviated as RTS. The main symptoms seen in children with this condition are abnormally wide-set big toes and big toes , some distinctive facial features, and developmental delays .

This condition was first described in 1957. However, it was not until 1963 that it was definitively identified as a disease by two doctors, Dr. Jack Rubinstein and Dr. Hooshang Taybi. Their names are used for this syndrome.

What are the main symptoms of RTS?

Not every child with RTS will have all of these symptoms. However, there are some common symptoms. Let's break these down into two easy-to-understand categories.

Visible changes in growth and behavior

In addition to physical symptoms, children with RTS may experience certain delays and changes in development and behavior.

Intellectual and learning delays

Children with RTS may have a slightly slower intellectual development than normal children. The extent of this delay varies from one child to another. Some may have a mild delay, while others may have a more severe delay. They may have difficulty with reasoning, learning new things, and problem-solving. This often becomes apparent when the child starts school.

Delays in physical and motor skills

These children often have low muscle tone . This can lead to delays in physical activities such as rolling over, sitting up, and walking. They may also have problems with balance and movement control.

Delays in speech and communication

About 90% of children with RTS have significant delays in speech development. One of the first signs of this can be difficulty eating , as eating and speaking require good coordination of the muscles of the mouth and tongue.

What is the reason for this situation?

When told that this is a genetic condition, some parents may fear that this is something they inherited.

It is important to understand that most of the time, this condition is caused by a new genetic mutation in the child's body. This means that it is not inherited from either the mother or the father. Therefore, for a healthy couple with a child with RTS, the risk of their next child developing the condition is less than 1%.

However, very rarely, if one parent has the RTS condition, there is a 50% chance that the child will inherit the gene. This is mainly caused by changes in the genes CREBBP and EP300 .

How to identify RTS status?

Often, a doctor will diagnose this condition by examining the child's physical characteristics, especially broad toes, downward-slanting eyes, and a raised upper palate.

To confirm this diagnosis, additional tests are sometimes performed.

• X-rays: Look for specific changes in the bones of the arms and legs.
• Brain scans: Monitor the electrical activity of the brain.
• Genetic Testing: This test can be done to confirm whether there are genetic mutations associated with RTS. However, some children with RTS may not have this genetic mutation detected by testing.

Some children can be diagnosed at birth. Others are diagnosed a little later. It depends on the severity of the symptoms.

What are the treatments for this?

First of all, there is no cure for RTS, but it can be managed and the child can lead a successful life by developing their abilities and managing their symptoms .

The treatment plan is determined by the child's symptoms. This is a team effort.

Here are some of the main treatment methods:

• Regular monitoring: The child's growth is monitored using special growth charts. Also, eyes and ears are checked every year.
• Surgery: If the fingers and toes are bent or there are defects in organs such as the heart or kidneys, surgery may be necessary to correct them.
• Therapies: This is very important. Things like Speech Therapy, Physical Therapy, and Behavioral Therapy are very important to prevent developmental delays in the child.
• Special Education: Referring a child to special education programs tailored to their learning abilities greatly supports their intellectual development.
• Genetic Counseling: Genetic counseling is very important to provide families with a clear understanding of the condition, the steps to take, and the risks associated with future children.

The most important thing is for you, as a parent, to be well informed about your child's condition and to work closely with the medical team treating your child.