Rett syndrome Health Article

Definition

Rett syndrome is a disorder of the nervous system that leads to developmental reversals, especially in the areas of expressive language and hand use.

Causes, incidence, and risk factors

Rett syndrome occurs almost exclusively in girls and may be misdiagnosed as autism or cerebral palsy.

Studies have linked many Rett syndrome cases to a defect in the methl-CpG-binding protein 2 (MeCP2) gene. This gene is on the X chromosome. Females have two X chromosomes, so even when one has this significant defect, the other X chromosome is normal enough for the child to survive.

Males born with this defective gene do not have a second X chromosome to make up for the problem. Therefore, the defect usually results in miscarriage, stillbirth, or very early death.

The condition affects about 1 out of 10,000 children. Groups of the disease have appeared within families and certain geographic regions, including Norway, Sweden, and northern Italy.

Symptoms

An infant with Rett syndrome usually has normal development for the first 6 - 18 months. Symptoms range from mild to severe.

Symptoms may include:

• Apraxia
• Breathing problems -- problems tend to get worse with stress; breathing is usually normal during sleep and abnormal while awake
• Change in development
• Excessive saliva and drooling
• Floppy arms and legs -- frequently the first sign
• Intellectual disabilities and learning difficulties (assessing cognitive skills in those with Rett syndrome, however, is difficult because of the speech and hand motion abnormalities)
• Scoliosis
• Shaky, unsteady, or stiff gait; or toe walking
• Seizures
• Slowing head growth beginning at approximately 5 - 6 months of age
• Loss of normal sleep patterns
• Loss of purposeful hand movements; for example, the grasp used to pick up small objects is replaced by repetitive hand motions like hand wringing or constant placement of hands in mouth
• Loss of social engagement
• Ongoing, severe constipation and gastroesophageal reflux (GERD)
• Poor circulation that can lead to cold and bluish arms and legs
• Severe language development problems

NOTE:

Problems in breathing pattern may be the most upsetting and difficult symptom for parents to watch. Why they happen and what to do about them is not well understood. Most experts in Rett syndrome recommend that parents remain calm through an episode of irregular breathing like breath holding. It may help to remind yourself that normal breathing always returns and that your child will become used to the abnormal breathing pattern.