Rett syndrome (RTT) is an X-linked neurodevelopmental disorder and the second most common cause of intellectual disability among females. Diagnostic criteria comprise 4 main findings (stereotypic hand movements, loss of acquired purposeful hand movements, gait abnormalities, and deterioration of acquired communication skills) and 11 supportive findings (breathing abnormalities, sleep disturbances, vasomotor disturbances, salivation when awake, growth retardation, small and cold hands/feet, abnormal muscle tone, diminished pain response, scoliosis, intense eye communication, and screaming spells). Classical RTT consists of all main criteria with or without supportive criteria; variant RTT consists of at least 2 main criteria and 5 supportive criteria. This video illustrates involuntary finger tapping, a characteristic finding and main diagnostic criterion, in a 42-year-old woman with RTT. Click the Related Article link for complete details.
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