Our Rett Syndrome Pages

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About Rett Syndrome

Rett syndrome is a neurological disorder occurring primarily in girls, in which individuals exhibit reduced muscle tone, autistic-like behavior, stereotyped hand movements consisting mainly of wringing and waving, loss of purposeful use of the hands, diminished ability to express feelings, avoidance of eye contact, a lag in brain and head growth, gait abnormalities and seizures. Hypotonia (loss of muscle tone) is usually the first symptom. The syndrome was first recognized in 1966 by Dr. Andreas Rett, however it was not until a paper was published by Dr. Bengt Hagberg in 1983 that the disorder was made widely known in medical circles. The syndrome affects appears nearly exclusively in girls, with symptoms usually appearing in early childhood. Symptoms include:

  • A period of normal development until 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)
  • Severely impaired expressive and receptive language
  • Intellectual development appears to be severely delayed, but true intelligence is difficult to measure
  • Loss of purposeful hand skills at age 1-4 years
  • Repetitive hand movements including hand washing, hand wringing, hand clasping and hand mouthing which can be almost constant while awake
  • Shakiness of the torso, which also may involve the limbs, particularly when the child is upset or agitated
  • Unsteady, wide-based, stiff-legged gait, and sometimes toe walking
  • Breathing dysfunctions which include beeath holding or apnea, hyperventilation and air swallowing which may result in abdominal swelling
  • EEG abnormalities which include slowing of normal electrical patterns, the appearance of epileptiform patterns and a reduction in REM sleep
  • Seizures
  • Muscle rigidity/spasticity/joint contractures
  • Scoliosis
  • Teeth grinding (bruxism)
  • Small feet
  • Growth retardation
  • Decreased body fat and muscle mass
  • Abnormal sleep patterns and irritability
  • Poor circulation of the lower extremities
  • Decreased mobility with age

The gene for Rett Syndrome, MeCP-2, was discovered in 1999. Please visit the International Rett Syndrome Foundation for more information.

About Me

I am the mother of a beautiful daughter named Claire who may have a mild variant form of Rett Syndrome, and of an equally beautiful daughter named Jill who does not. I spent five years organizing and maintaining an Indiana family support group, served for three years as a Regional Representative for the International Rett Syndrome Association (now the International Rett Syndrome Foundation), and have maintained this site since 1995. I also keep busy working full time as the vice president of a software company.

If you have further questions about Rett Syndrome or are looking for other parents to network with, please visit the International Rett Syndrome Foundation, as I'm no longer heavily involved with the Rett Syndrome community.

Debbie Schilling, Indiana, USA

Dedicated to the memory of my mother, Irene Normark Schilling, the first volunteer for people with disabilities I ever knew. I miss you, Mom.
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