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This is an excellent monograph, edited by Professor Hagberg, a respected international authority on Rett syndrome. At present, no definitive biochemical or genetic basis has been identified for Rett syndrome, and hence, this represents one of the major enigmas of pediatric neurology.
Much of this book is aimed at clinicians, and, in particular, chapters 1 through 7 are largely based on Professor Hagberg's extensive experience with his Swedish cohort of 130 girls and women (aged 3 to 50) with Rett syndrome. A detailed account of the major features and the four clinical stages of classic Rett syndrome are presented in lucid form. In addition, many of the less well-known features are described, including the characteristic night laughing and screaming spells. Important clinical insights are recounted, including the observation that some school-aged girls with Rett syndrome either become refractory to anticonvulsant medications or exhibit an exquisite sensitivity to the side effects
Epstein LG. Rett Syndrome—Clinical and Biological Aspects: Studies on 130 Swedish Females. Arch Neurol. 1995;52(4):343–344. doi:10.1001/archneur.1995.00540280025011