USC UCEDD Rett Syndrome Clinic

What is Rett Syndrome?

Rett Syndrome is a neurodevelopmental disorder caused by a genetic mutation in one or more genes, most often the MECP2 gene. Children are born with this condition but likely did not show signs until later in his or her development. There are no known risk factors or ways to prevent Rett Syndrome. Rett can manifest in different ways depending on the genes that are affected. This is why children might seem to be growing and developing differently even though they have the same condition. The disorder is rarely seen in boys because it is “x-linked” meaning it affects the X chromosome (men have one X chromosome, women have two). Rett Syndrome affects 1 in 10,000-15,000 females.

Common Symptoms

• Toe-walking, complete or partial loss of ability to walk, poor balance, wide stance, scoliosis
• Progressive loss of speech, though still able to make sounds
• Partial or complete loss of functional hand use replaced with hand squeezing, clapping, rubbing and gripping
• Teeth grinding, drooling, difficulty chewing or swallowing
• Breathing abnormalities such as holding breath or hyperventilation (breathing too fast)
• Fits of screaming, laughing, crying or tantrums
• May withdraw socially

Every Child is Different…

Communication

Children with Rett Syndrome communicate in many different ways. Some use nonverbal communication or make particular sounds to interact with family and friends, do school work or make their needs known. There are programs designed for this and some children use technologies like handheld computers, tablets, flipbooks, etc. to help. A speech and language pathologist can help you find the most effective program for your child. It is important to remember that children with Rett Syndrome really want to communicate. Their ability to show affection may be limited by their disorder, but it does not mean they don’t have a special bond with you. You are an incredibly important part of your child’s life and children with Rett Syndrome love attention and affection from family and friends.

Exercise

It is important that your child exercise and finding activities your child enjoys. Staying active helps to strengthen muscles and maintain balance, slow the development of contractures, and control deformities. Walking, swimming and horseback riding have been helpful for some children. Physical and occupational therapists specialize in finding and facilitating activities that are motivating and appropriate. Talk to your child’s school therapist for activity suggestions.

Possible Progression

It is important to know that children develop symptoms of Rett at different times, therefore comparisons to other children with Rett Syndrome may not be practical for your child. Some children are diagnosed very early, and others are diagnosed as late as 21 years of age or later. However, a typical progression may look like this:

Stage 1 (6-18 months): Child may have less eye contact and play, delays inmovements of whole limbs, slow head growth, and hand wringing.  Child may become quieter and cuddle less.

Stage 2 (1-4 years): Child may stop talking and develop unusual breathing patterns.  Sleep interruptions and uncontrollable screaming/crying/laughing may be seen.

Stage 3 (2-10 years): Sometimes improvements in behavior are noted.  Hand movement and communication skills may start to reappear.

Stage 4 (10+ years): Movement difficulties continue through this stage and may increase as time goes on.  They include decreased ability to move, slow movement (bradykinesia), uncontrollable muscle spasms (dystonia) and limited facial expression (hypomimia).  Scoliosis (curvature of the spine) may start to develop at this time, which can affect the ability to walk.

What We Do

The USC UCEDD at Children's Hospital Los Angeles Rett Syndrome Clinic offers evaluation and consultation to determine your child’s needs. The team of specialists work together to help you get services and find resources for your child. Evaluations during visits to the Rett Syndrome Clinic are in the following areas:

• Seizures
• Sleep and breathing disturbances
• Behavioral concerns
• Diet and nutrition
• Motor skills
• Communication challenges

Make an Appointment

The Rett Syndrome Clinic is open the 2nd and 4th Wednesday of every month from 1 PM to 5 PM.

We see children with Rett Syndrome from birth to age 21.

Contact:
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Nurse Care Manager, Rett Clinic