Breathing Issues in Rett Syndrome

It has long been understood that many of the problems experienced by girls with RS arise from abnormal brainstem function. The brainstem is responsible for things like heart function, breathing and digestion among other things.

Breathing abnormalities are thought to be present in all girls with RS even if they are not obvious, and can even be mistaken for epilepsy. There are 4 main categories of breathing abnormality, and each of these categories has several sub-types of breathing, involving thirteen different types of breathing in all. The main categories are:

• Apneustic breathing
• Forceful breathing
• Valsalva’s breathing
• Feeble breathing

Girls with Rett Syndrome usually show an abnormality from one Category, but can also show several sub-types.

Apneustic Breathing This involves breathing in but failing to breathe out regularly. There are three types of breathing abnormalities in this category. They are long breath holds, repeated short breath holds and extended inhaling. This breathing category responds to drug treatment.

Forceful Breathing This occurs when there is forceful inhaling and exhaling of air. Breathing may stop and there may be symptoms like epileptic stiffness of the limbs. There may then be brainstem shutdown (the skin turns white and the body becomes floppy). Others may turn blue in the face, starting with the lips. This breathing category does not respond to drug treatment.

Valsalva’s type of breathing This is forceful breathing leading to an increase of pressure in the lungs and the chest. This reduces blood flowing back into the heart and brainstem reacts very violently. This kind of breathing can result in unsteadiness, dizziness and wandering eyeballs. Blood pressure can be affected too. Sometimes the symptoms can be confused with epilepsy. This breathing category does not respond to drug treatment.

Feeble Breathing This happens with girls who have the habit of very shallow breathing. The movements of the chest and the abdomen are so small that it’s easy to think that she has stopped breathing altogether. Sometimes the person does stop breathing briefly. The Rett person can turn blue in the face (starting with the lips). Feeble breathers may also have “Brainstem Storms”. Whether this type of breathing responds to drug treatment is an area of current research.

Why is this important?

It’s important to be aware of breathing issues in Rett for a number of reasons:

• These breathing patterns are sometimes confused with epileptic seizures, and this can lead to a child being inappropriately medicated.
• Breathing issues can affect how a person with Rett responds to sedatives, for instance at surgery or even at the dentist.
• In the event of a visit to the Emergency Room breathing issues that occur as part of Rett can confuse doctors and medical staff.
• Breathing issues can cause great concern for carers, especially those not familiar with the child with Rett Syndrome

This article is published here for information purposes only. Medical advice should be sought from a Medical Professional.