Rett’s Syndrome

Rett’s Syndrome (RS) is a genetic disorder which affects only females. Children diagnosed with RS display an initial phase of normal development, followed by a loss of communication skills and purposeful hand movements.

RS has just recently been traced to a defective gene on the X chromosome called MeCP2. It is estimated that the incidence of RS is between 1 in every 10,000 to 15,000 live female births.

Characteristics

• Normal development until approximately 6 to 18 months of age;
• Normal head circumference at birth, followed by a slowed growth rate anywhere from 3 months to 4 years of age;
• Severely impaired expressive language and loss of purposeful hand skills;
• Repetitive hand movements such as: hand washing, hand wringing, hand clapping, and hand mouthing;
• Shakiness of the torso, which may also involve the limbs (particularly when the child is upset or agitated);
• If able to walk, unsteady, wide-based, stiff-legged gait/toe walking;

Treatment

• IBI: See treatment section;
• Physical therapy: Focus should be on maintaining ambulation and balance;
• Occupational therapy: Emphasis should be on promoting hand use, this should include the use of hand splints to reduce involuntary hand movements associated with RS;
• Speech Therapy: Use of Picture Exchange Communication System to help promote communication;
• Hydrotherapy: this has helped in promoting balance and protective responses.