Neurodevelopmental disorders: Clinical criteria for Rett syndrome.

摘要

Rett syndrome (RTT) is a unique severe neurodevelopmental disorder that occurs predominantly in girls and manifests as psychomotor regression in early childhood, with loss of hand function, hand-wringing behavior, seizures, breathing abnormalities, and autonomic instability, some of which abate, albeit leaving individuals with severe disability. An international group of researchers developed the first clinical criteria for RTT diagnosis 11 years before the discovery that the MECP2 (methyl CpG vbinding protein 2) gene is mutated in most RTT cases. The RTT clinical criteria were later revised in 2001 and 2002 to reflect the clinical variability observed in the 75-80% of individuals positive for MECP2 mutations, and also included those in whom the mutation could not be identified.