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.

Signs and tests:

Genetic testing may be done to look for the gene defect associated with the syndrome. However, since the defect is not identified in everyone with the disease, the diagnosis of Rett syndrome is based on symptoms.

There are several different types of Rett syndrome:

• Atypical
• Classical (meets the diagnostic criteria)
• Provisional (some symptoms appear between ages 1 and 3)

Rett syndrome is classified as atypical if:

• It begins early (soon after birth) or late (beyond 18 months of age, sometimes as late as 3 or 4 years old)
• Speech and hand skill problems are mild
• It is appears in a boy (very rare)