Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. It's related to autism spectrum disorder. Babies with Rett syndrome seem to grow and develop normally at first. Between 3 months and 3 years of age, though, they stop developing and even lose some skills. Symptoms include
- Loss of speech
- Loss of hand movements such as grasping
- Compulsive movements such as hand wringing
- Balance problems
- Breathing problems
- Behavior problems
- Learning problems or intellectual disability
Rett syndrome has no cure. You can treat some of the symptoms with medicines, surgery, and physical and speech therapy. Most people with Rett syndrome live into middle age and beyond. They will usually need care throughout their lives.
NIH: National Institute of Child Health and Human Development
Diagnosis and Tests
- How Do Health Care Providers Diagnose Rett Syndrome? (Eunice Kennedy Shriver National Institute of Child Health and Human Development) Also in Spanish
- ClinicalTrials.gov: Rett Syndrome (National Institutes of Health)
Journal Articles References and abstracts from MEDLINE/PubMed (National Library of Medicine)
- Article: WGCNA Identifies Translational and Proteasome-Ubiquitin Dysfunction in Rett Syndrome.
- Article: Expanding the MECP2 network using comparative genomics reveals potential therapeutic targets...
- Article: Transcriptomic and Epigenomic Landscape in Rett Syndrome.
- Rett Syndrome -- see more articles