title: Rett syndrome: epidemiology and nosology--progress in knowledge 1986--a conference communication.
abstract: Recent progress from pooled clinical experience is reviewed. The approximate number of documented cases of Rett syndrome (RS) as of October 1986 was 1,100. Three sister pairs, 3 monozygotic twin pairs (both twin girls affected), 3 dizygotic twin pairs (one twin girl affected) are known. Genetics are discussed based on these and other known occurrences. Early seizure-onset variants have been reported in a dozen cases representing various countries. Approximately 20 incomplete RS related cases, also termed "formes frustes," are documented as of October 1986. An actual Swedish series of 66 classical RS, 4 "formes frustes," 2 early seizure-onset variants and 9 other clinically near related atypical cases is summarized. A suggested late stage IV spinal cord impairment is discussed, as well as the whole adult multifacetted complex neurological pattern. Gastrointestinal pathology is discussed with reference to possible generalized neuropeptide disturbances.
authors.affiliation: Department of Pediatrics II, University of Gothenburg, Sweden.
authors.forename: B
authors.initials: B
authors.lastname: Hagberg
authors.forename: I
authors.initials: I
authors.lastname: Witt-Engerström
mesh_terms: D000293:Adolescent; D000328:Adult; D001927:Brain Diseases / Q000150:complications / Q000453:epidemiology / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004200:Diseases in Twins; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000150:complications / Q000453:epidemiology / Q000235:genetics*; D007410:Intestinal Diseases / Q000150:complications / Q000503:physiopathology; D008297:Male; D012737:Sex Factors; D013118:Spinal Cord Diseases / Q000150:complications / Q000503:physiopathology; D013577:Syndrome