We reevaluated 49 girls with either Rett syndrome (RTT) or features of RTT who had negative test results for mutations in the MECP2 gene and compared them with 49 girls who had positive test results. The girls with MECP2-positive results included 2 girls with forme fruste and 2 with congenital RTT. Study design Based on the original diagnostic criteria for RTT, we developed a 10-item checklist with a score ranging from 0 to 12.
Neuropediatric Department and Department of Genetic Epidemiology, Institute of Human Genetics, Georg-August-Universität Göttingen, Göttingen, Germany. phuppke@med.uni-goettingen.de
