title: Tuberous Sclerosis Consensus Conference: recommendations for diagnostic evaluation. National Tuberous Sclerosis Association.
abstract: At the recent Tuberous Sclerosis Consensus Conference, a subcommittee proposed recommendations to guide the rational use of diagnostic studies in patients with tuberous sclerosis complex. Recommendations were made for diagnostic evaluation at the time of diagnosis, when testing helps both to establish the diagnosis and to identify potential complications. Additional guidelines were proposed for the ongoing surveillance of established patients to detect later complications of tuberous sclerosis complex. In the absence of comprehensive population studies to govern the use of diagnostic studies in individuals with tuberous sclerosis complex, the panel developed guidelines based on the disorder's natural history, concentrating on complications that are common, clinically significant, and more easily managed when found early. Finally, the group made suggestions for the use of diagnostic tests to identify family members who have tuberous sclerosis complex. Although these recommendations should standardize and improve our use of diagnostic studies in individuals with tuberous sclerosis complex, the clinical approach in a given patient must remain flexible enough to meet the needs of individual patients and families.
authors.affiliation: Division of Child Neurology, University of Texas Southwestern Medical Center at Dallas 75235, USA.
authors.forename: E S
authors.initials: ES
authors.lastname: Roach
authors.forename: F J
authors.initials: FJ
authors.lastname: DiMario
authors.forename: R S
authors.initials: RS
authors.lastname: Kandt
authors.forename: H
authors.initials: H
authors.lastname: Northrup
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D003952:Diagnostic Imaging; D004452:Echocardiography; D004569:Electroencephalography; D005260:Female; D005817:Genetic Counseling; D005820:Genetic Testing; D018095:Germ-Line Mutation; D006801:Humans; D007223:Infant; D008297:Male; D009030:Mosaicism; D009483:Neuropsychological Tests; D012129:Respiratory Function Tests; D014402:Tuberous Sclerosis / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D014463:Ultrasonography