What is Rett syndrome?
Rett syndrome is a rare genetic neurological disorder that is first recognized in infancy and primarily occurs in girls, but there are rare cases reported in boys as well. Rett syndrome leads to severe impairments, affecting nearly every aspect of the person’s life. Finding trusted information that is reliable, current and vetted by global experts in the field of Rett syndrome is often a family’s first step after receiving a diagnosis.
Signs & Symptoms
The signs and symptoms of Rett syndrome are variable in severity and frequency and emerge at different times during the course of condition. After a relatively normal infancy, cognitive and motor delays begin to manifest along with slower head growth. Around 1.5 to 3 years of age, loss of spoken language and hand skills begins to manifest.
Loss of Expressive Language
Loss of Fine Motor Skills
Impaired Ability to Walk
Rett syndrome has four core symptoms
Repetitive Hand Movement
Rett syndrome is associated with many more symptoms, including breathing and sleeping abnormalities, seizures, scoliosis, abnormal muscle tone and gastrointestinal disorders.
There are about 350,000 patients with Rett syndrome worldwide and about 11,000 patients in the United States. Rett syndrome is the second most common cause of severe intellectual disability in females and, during its period of developmental regression, a substantial proportion of affected individuals meet diagnostic criteria for autism spectrum disorder (ASD).