Rett Syndrome

Rett syndrome is a rare debilitating neurological disorder occurring mostly in females after 6-18 months of apparently normal development.

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Rett syndrome is a rare genetic neurodevelopment disorder that occurs primarily in females following a near normal development in the first 2 years of life. Patients then experience a period of developmental regression between 18-30 months of age, which is typically followed by a plateau period lasting years to decades.

Rett syndrome includes a period of normal development followed by developmental regression with loss of language and hand function skills, impaired gait and development of hand stereotypes. Individuals may also experience a range of symptoms associated with it, including gastrointestinal complications, skeletal abnormalities and neuroendocrine abnormalities. Symptoms may also include disruptive and anxiety-like behaviors as well as mood dysregulation and sleep disturbances.

Symptom management of comorbidities requires a multidisciplinary approach coordinated by a pediatrician and focusing on the management of symptoms.

Prevalence

Rett syndrome occurs worldwide in approximately one of every 10,000 to 15,000 female births (~6,000 to 9,000 patients in the U.S.).

Symptoms

Rett syndrome causes profound impairment to central nervous system (CNS) function, including: loss of communication skills, purposeful hand use, gait abnormalities, and stereotypic hand movements, such as hand wringing, clapping or tapping.

Support for Patients

At Acadia, we are committed to not only finding new treatment options but also battling widespread stigma through disease education and supporting policies that improve diagnosis and treatment. We’re excited to bring this commitment to the rare disease community to help improve understanding and find solutions for these conditions.

We have formed strong connections in the Rett syndrome community, partnering with the International Rett Syndrome Foundation and Child Neurology Foundation, supporting community events to improve awareness and understanding of Rett syndrome and establishing the Rett Parents Council to listen and learn directly from those who know Rett syndrome best – parents.

Patient Resources