pediatrics
Rett Syndrome
Symptoms and Signs of Rett Syndrome
The course, age of onset, and severity of symptoms of Rett syndrome vary from child to child. Rett syndrome is characterized by normal early growth and development followed by slowing of developmental milestones, and then regression of skills with loss of purposeful hand use with compulsive hand-wringing and hand-washing behavior, slowed head and brain growth, seizures, walking difficulty, and Intellectual Disability . There are 4 stages: Stage 1(early onset) usually begins between 6 months and 18 months of age with subtle slowing of development. Symptoms may include less eye contact, decreased interest in toys, delays in sitting or crawling, decreased head growth, and hand wringing. (developmental regression or rapid destructive stage) usually begins between ages 1 year and 4 years. The onset may be rapid or gradual with loss of purposeful hand skills and spoken language. During this stage, characteristic hand movements begin such as wringing, clapping, washing, and tapping and repeatedly bringing the hands to the mouth. The movements disappear during sleep. Breathing irregularities may occur, such as episodes of apnea and hyperventilation. Walking may be unsteady, and initiating motor movements may be difficult. Some girls may also have symptoms similar to those of Symptoms and Signs , such as impaired social interaction and impaired communication. Stage 3(pseudostationary stage) usually begins between ages 2 years and 10 years and can last for years. Seizures, motor deficits, and apraxia are common during this stage. Sometimes, symptoms such as crying, irritability, and autism-like symptoms decline during this stage. Alertness, communication skills, attention span, and interest in the surroundings may increase during this stage. Stage 4(late motor deterioration stage) can last for years or decades. Common characteristics include scoliosis, decreased mobility, muscle weakness, spasticity, or rigidity. Sometimes walking may stop. Eye gaze for communication purposes becomes prominent because spoken language is absent, and repetitive hand movements may decrease. Cardiac abnormalities (such as prolonged QT interval) are often present. Children may have slowed growth and tend to have difficulty maintaining weight. 