Health Problems Associated with Rett Syndrome
Some people with Rett syndrome have cardiac irregularities, particularly problems with the rhythm of their hearts. For instance, they may have unusually long pauses between heart beats (as recorded on an electrocardiogram, or ECG), or they may have other types of arrhythmia (an abnormal rate of muscle contractions in the heart).
Another common problem associated with Rett syndrome is seizures, affecting about 80 percent of those with the disorder. They usually start after the age of two but sometimes may begin in the first year of life. The seizures can be of various types and include generalized convulsive (tonic-clonic) seizures, myoclonic (jerk) seizures, absences (where the child goes blank) and tonic seizures (where the child stiffens up). Frequently, more than one type of seizure is present. A particular type of seizure called infantile spasms may also occur. However, infantile spasms are usually seen in girls with the less common genetic mutation during the first year of life. During adolescence and early adult life the seizures may lessen. However, it is unusual for them to stop altogether.
About 80 percent of girls with Rett syndrome have a curved spine, also known as scoliosis, usually not developing until the latter part of the first decade or early teen age years. In some cases, the spinal curvature is so serious that the girls need to have surgery. For some individuals, a brace is the answer. It may relieve the problem, stop it from becoming worse, or postpone or rule out the need for surgery. Other orthopedic problems that sometimes affect girls with Rett syndrome are tight joints and rigid muscles. Some may have increasing difficulty with walking and eventually not be able to walk at all. Others may have bluish-red feet and legs due to poor circulation.
Many people with Rett syndrome suffer from constipation and gastroesophageal reflux disease (GERD). This is a condition in which acid, bile and partially-digested food in the stomach back up into the esophagus. Gallbladder problems also may be present – ranging from pain or discomfort in the abdomen to gallstones. Many girls with Rett syndrome cannot feed themselves. While some have difficulty swallowing, others never master the ability to chew food correctly. In some instances, girls with Rett syndrome are unable to gain weight or have trouble maintaining a healthy weight – despite having a healthy appetite. As a result, some girls with Rett syndrome must be fed through a feeding tube. This may be either a nasogastric tube (a tube inserted through the nose) or even a feeding gastrostomy tube (a tube inserted directly into the stomach).
Girls with Rett syndrome also have a tendency to have breathing irregularities. These include breath holding, hyperventilation, air swallowing and periods of rapid or slow breathing. These periods are sometimes associated with fainting spells, which may be mistaken for epileptic seizures.
Another frequent health problem in children with Rett syndrome is with sleep, in particular disrupted sleep patterns at night. In fact, problems with sleep can be some of the earliest symptoms of Rett syndrome, appearing between one and two months of age. After the age of five years old, there may be an increase in total and day time sleep.
Have questions about Rett syndrome?
Visit the My Child Without Limits support community and talk to parents, caregivers, and professionals about their experiences with Rett syndrome.
Want to learn more about Rett syndrome?
National Institute of Neurological Disorders and Stroke
International Rett Syndrome Foundation