Rett Syndrome

Rett Syndrome

 Rett Syndrome is characterized by an individual having a small head, hands and small feet, abnormal social skills, cognitive impairment, significant speech delays or no speech and repetitive behaviors. Girls with Rett Syndrome tend to have gastrointestinal disorders, difficulties walking and are prone to have seizures. Rett syndrome is caused by mutations (structural alterations or defects) in the MECP2 (pronounced meck-pea-two) gene, which is found on the X chromosome, which is why Rett Syndrome affects females so much more than males. There are four stages of Rett Syndrome.

• Early Onset In this stage, the infant's eye contact decreases and they may have reduced interest in toys. There may be delays in gross motor skills such as sitting or crawling. Hand-wringing and decreasing head growth may occur, but not enough to draw attention. This stage usually lasts from a  few months to over a year.
• Rapid Destructive Stage This stage begins between ages 1 and four and may come on quickly (weeks) or slowly (months). with purposeful hand skills and spoken language being lost. The characteristic hand movements begin to emerge during this stage and often include wringing, washing, clapping, or tapping, as well as repeatedly moving the hands to the mouth. They will sometimes clasp their hands behind their back or hold them at the sides, with random touching, grasping, and releasing but only while the child is awake. Breathing irregularities such as episodes of apnea and hyperventilation may occur, again, only when they are awake. Some girls also display autistic-like symptoms such as loss of social interaction and communication. General irritability and sleep irregularities may be seen. Walking becomes more difficult as the head slows in growth
• Plateau or pseudo-stationary stage Between the ages of  2 and 10, the child will regain some abilities and become less irritable. This is the stage in which seizures can cause some concerns. There are many who remain in this stage. It is best to keep the child in therapies such as occupational, physical and hydrotherapy to prevent muscle deterioration.
• Late Motor Deterioration Stage In this stage, mobility is often loss due to muscle weakness and scoliosis. The ability to walk may be lost.