Tuberous Sclerosis Consensus Conference: Recommendations for Diagnostic Evaluation
| Autor: | Raymond S. Kandt, Francis J. DiMario, Hope Northrup, E. S. Roach |
|---|---|
| Rok vydání: | 1999 |
| Předmět: |
medicine.medical_specialty
education.field_of_study medicine.diagnostic_test business.industry Genetic counseling Population Consensus conference MEDLINE food and beverages Guideline medicine.disease Natural history 03 medical and health sciences Tuberous sclerosis 0302 clinical medicine 030225 pediatrics Pediatrics Perinatology and Child Health Physical therapy Medicine Neurology (clinical) business Intensive care medicine education 030217 neurology & neurosurgery Genetic testing |
| Zdroj: | Journal of Child Neurology. 14:401-407 |
| ISSN: | 1708-8283 0883-0738 |
| DOI: | 10.1177/088307389901400610 |
| Popis: | 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. (J Child Neurol 1999;14:401-407). |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|