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Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference
Tijdschriftbijdrage - Tijdschriftartikel
BACKGROUND: Tuberous sclerosis complex is highly variable in clinical presentation and findings. Disease manifestations
continue to develop over the lifetime of an affected individual. Accurate diagnosis is fundamental to
implementation of appropriate medical surveillance and treatment. Although significant advances have been
made in the past 15 years in the understanding and treatment of tuberous sclerosis complex, current clinical
diagnostic criteria have not been critically evaluated or updated since the last clinical consensus conference
in 1998. METHODS: The 2012 International Tuberous Sclerosis Complex Consensus Group, comprising 79 specialists
from 14 countries, was organized into 12 subcommittees, each led by a clinician with advanced expertise in tuberous
sclerosis complex and the relevant medical subspecialty. Each subcommittee focused on a specific disease
area with important diagnostic implications and was charged with reviewing prevalence and specificity of diseaseassociated
clinical findings and their impact on suspecting and confirming the diagnosis of tuberous sclerosis
complex. RESULTS: Clinical features of tuberous sclerosis complex continue to be a principal means of diagnosis. Key
changes compared with 1998 criteria are the new inclusion of genetic testing results and reducing diagnostic
classes from three (possible, probable, and definite) to two (possible, definite). Additional minor changes to specific
criterion were made for additional clarification and simplification. CONCLUSIONS: The 2012 International Tuberous
Sclerosis Complex Diagnostic Criteria provide current, updated means using best available evidence to establish
diagnosis of tuberous sclerosis complex in affected individuals.
continue to develop over the lifetime of an affected individual. Accurate diagnosis is fundamental to
implementation of appropriate medical surveillance and treatment. Although significant advances have been
made in the past 15 years in the understanding and treatment of tuberous sclerosis complex, current clinical
diagnostic criteria have not been critically evaluated or updated since the last clinical consensus conference
in 1998. METHODS: The 2012 International Tuberous Sclerosis Complex Consensus Group, comprising 79 specialists
from 14 countries, was organized into 12 subcommittees, each led by a clinician with advanced expertise in tuberous
sclerosis complex and the relevant medical subspecialty. Each subcommittee focused on a specific disease
area with important diagnostic implications and was charged with reviewing prevalence and specificity of diseaseassociated
clinical findings and their impact on suspecting and confirming the diagnosis of tuberous sclerosis
complex. RESULTS: Clinical features of tuberous sclerosis complex continue to be a principal means of diagnosis. Key
changes compared with 1998 criteria are the new inclusion of genetic testing results and reducing diagnostic
classes from three (possible, probable, and definite) to two (possible, definite). Additional minor changes to specific
criterion were made for additional clarification and simplification. CONCLUSIONS: The 2012 International Tuberous
Sclerosis Complex Diagnostic Criteria provide current, updated means using best available evidence to establish
diagnosis of tuberous sclerosis complex in affected individuals.
Tijdschrift: Pediatr Neurol
ISSN: 0887-8994
Volume: 49
Pagina's: 243-254
Jaar van publicatie:2013
Trefwoorden:Diagnostic criteria