RETT SYNDROME
AND THE RETT SYNDROME ASSOCIATION OF ILLINOIS

Paul Jochim, Dr. Rett and Janell Jochim

What is Rett? 

Rett Syndrome, a neurological disorder named after Dr. Andreas Rett, who first described the condition, occurs predominantly in girls.  The child with Rett syndrome usually shows an early period of normal or near-normal development until about 6 to 18 months of age.  A period of temporary stagnation or regression follows during which time the child loses communication skills and purposeful use of the hands.  Soon, stereotyped hand movements, gait disturbances, and slowing of the rate of head growth become apparent.  Other problems encountered may include seizures and disorganized breathing patterns.  Apraxia, the inability to program the body to perform motor movements, is the most fundamental and severely handicapping aspect of Rett.  Most researchers believe that Rett is a developmental disorder rather than a degenerative disorder as once thought. 

In 1999, it was discovered that Rett is caused by a mutation of the MECP2 gene on the X chromosome.  Now that the gene has been found, new efforts are underway to develop treatments and ultimately a cure, for Rett syndrome. 

 Paul Jochim

Founder
Rett Syndrome Association of Illinois