Children who have Rett's syndrome seem to develop normally for the first 6-18 months, at which point there is a noticeable change in the child's behavior and some regression or loss of abilities, especially in gross motor skills such as walking and moving.
This is generally followed by a more obvious loss in abilities such as speech, reasoning and hand movements. Repetitive movements or gestures such as constant hand-wringing or hand washing are also common.
- Normal development during first months of infancy
- Hypotonia (floppy extremities) is frequently the first manifestation
- Head growth begins slowing (deceleration in head circumference) at approximately 5-6 months of age
- Overall developmental regression
- Language development, both expressed and understood, is severely impaired
- Loss of meaningful hand use, replaced by movements such as hand wringing or placing the hand in the mouth
- Seizures (seen in about 1/3rd of patients)
- Intermittent hyperventilation with a disorganized breathing pattern