Rett syndrome: Treatment and prognosis
- Rebecca J Schultz, PhD, RN, CPNP
Rebecca J Schultz, PhD, RN, CPNP
- Assistant Professor of Pediatrics
- Baylor College of Medicine
- Daniel G Glaze, MD
Daniel G Glaze, MD
- Professor of Pediatrics and Neurology
- Baylor College of Medicine
- Section Editors
- Marc C Patterson, MD, FRACP
Marc C Patterson, MD, FRACP
- Section Editor — Pediatric Neurology
- Professor of Neurology, Pediatrics, and Medical Genetics
- Chair, Division of Child and Adolescent Neurology
- Mayo Clinic College of Medicine
- Helen V Firth, DM, FRCP, DCH
Helen V Firth, DM, FRCP, DCH
- Section Editor — Genetics
- Consultant Clinical Geneticist
- Addenbrooke's Hospital, Cambridge, UK
Rett syndrome (RTT) is a neurodevelopmental disorder that occurs almost exclusively in females. After a brief period of initially normal development, affected patients experience loss of speech and purposeful hand use, stereotypic hand movements, and gait abnormalities. Additional manifestations include deceleration of head growth, seizures, autistic features, and breathing abnormalities.
This topic will review the treatment and prognosis of RTT. Other aspects of RTT are reviewed separately. (See "Rett syndrome: Genetics, clinical features, and diagnosis".)
CLINICAL FEATURES AND DIAGNOSIS
The clinical features and diagnosis of RTT are reviewed here briefly and discussed in detail elsewhere. (See "Rett syndrome: Genetics, clinical features, and diagnosis", section on 'Classification and major features' and "Rett syndrome: Genetics, clinical features, and diagnosis", section on 'Typical manifestations' and "Rett syndrome: Genetics, clinical features, and diagnosis", section on 'Diagnosis'.)
Manifestations of RTT typically include loss of purposeful hand skills, gait and motor abnormalities, loss of spoken language, and stereotypic hand movements. Additional features of RTT include:
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