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Rett Syndrome

Fact Sheet

What is Rett Syndrome?

Rett Syndrome is a childhood neurodevelopmental disorder occurring primarily in girls. Loss of muscle tone is usually the first symptom. Other early symptoms may include problems crawling or walking and diminished eye contact. As the syndrome progresses, the child will lose purposeful use of her hands and the ability to speak. Compulsive hand movements such as wringing and washing follow the loss of functional use of the hands. The inability to perform motor functions is the most disabling feature of Rett Syndrome, interfering with every body movement, including eye gaze, and speech. A common misconception is that Rett Syndrome is a cognitive disorder.

How is it manifested?

  • a period of normal development between 6-18 months
  • normal head circumference at birth followed by a slowing of the rate of head growth with age (starting between 6 months and 4 years)
  • loss of purposeful hand skills at age 1-4 years
  • shakiness of the torso, which may involve the limbs, particularly when the child is upset or agitated
  • unsteady, stiff-legged gait
  • breathing difficulties (hyperventilation, apnea, air swallowing)
  • seizures (approximately 80% have epilepsy)
  • teeth grinding and difficulty chewing
  • intellectual development appears to be severely delayed, but true intelligence is hard to measure
  • impaired expressive and receptive language

Who is affected?

Rett syndrome affects approximately 1 in every 10,000-23,000 live female births, with symptoms usually appearing in early childhood.

How is it diagnosed or detected?

Doctors diagnose Rett Syndrome by observing signs and symptoms during the child’s early growth and development, and by conducting ongoing evaluation of the child’s physical and neurological status. Recently, scientists have developed a genetic test to confirm the clinical diagnosis of this disorder.

Additional Resources:

Ontario Rett Syndrome Association (ORSA)
The ORSA site is an information network on Rett Syndrome. It also has parent support groups, public awareness and conferences.

International Rett Syndrome Association (IRSA)
IRSA is a partnership of parents and professionals united in purpose to bring greater understanding of Rett Syndrome. The mission of the IRSA is to support and stimulate biomedical research, to increase public awareness of Rett Syndrome, and to provide information and emotional support to families of children with Rett Syndrome.

Rett Syndrome Research Foundation (RSRF)
RSRT is a research and funding initiative whose website offers up to date information, news and event listings. They also provide a monthly newsletter to subscribers.

Books and Literature:

The Rett Syndrome Handbook: Second Edition
by Kathy Hunter

Understanding Rett Syndrome: A Practical Guide for Parents, Teachers, and Therapists
by Barbara Lindberg

Pathways to Learning in Rett Syndrome
by Jackie Lewis and Debbie Wilson

The content contained in this document is for general information purposes. It is not the intention to diagnose or treat a child.

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