sabrinatoro
commented
2 years ago Before making changes in the ontology, I want to make sure that these changes will not change the meaning of the current concept, in which case, we should create a new term. Here are my specific questions and concerns:
-
The suggested new definition refers to a “dominant transmission with high penetrance in pedigrees”. This would make the disease concept more specific than the current one. Are “Self-Limited Neonatal Seizures” always of dominant transmission? Is it always familial, or are there cases when it is non-familial?
-
The new definition refers to neonatal seizures (“For most affected infants, seizures begin within the first week after term birth.”) AND infantile seizures (“In a minority, however, seizures can begin after the first week but within the first several months of life.”). We currently have 2 separate terms in Mondo, one for the neonatal seizures (MONDO:0100023) and one for the infantile seizures (MONDO:0100024). This new definition, therefore, seems to refer (if we ignore the dominant transmission, see point above) to a term grouping the two Mondo terms. Do we want such grouping term? Should we merge the two Mondo terms or is there use cases to have a specific term for "neonatal" and "infantile"?
@nicolevasilevsky @tibingaman @pnrobinson @ahamosh
Please share your thoughts! Thank you
nicolevasilevsky
tibingaman
ARosselClinGen
Mondo term (ID and Label): Self-Limited Familial and Non-Familial Neonatal Seizures (MONDO:0100023)
Suggested new label: self-limited familial neonatal seizures
Your nano-attribution (ORCID) If you don't have an ORCID, you can sign up for one here
Optional: Any additional information (like supporting evidence, PubMed ID, etc.) We have also updated the definition. It is as follows: An epilepsy syndrome associated with infantile period seizures, complete or nearly-complete seizure remission afterwards, usually good developmental outcome, and dominant transmission with high penetrance in pedigrees. For most affected infants, seizures begin within the first week after term birth. In a minority, however, seizures can begin after the first week but within the first several months of life. At onset, seizures may be highly recurrent, and often feature unilateral tonic limb stiffening that may alternate sides from seizure to seizure, accompanied by cyanosis and autonomic features. Limb shaking movements occur, but not in the evolving rhythmic pattern of tonic-clonic convulsions in older individuals. Neurological examination of the infant is normal between seizures. Although these seizures remit by 4-12 months of age in the majority, 15-30% of those affected have one or more seizure recurrences later, including febrile seizures, focal-onset seizures, and convulsions. Although most affected children show normal subsequent development, individuals with mild learning difficulties have been reported in families where the majority develop typically.
Additional Information: Scheffer IE, Berkovic S, Capovilla G, et al. ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology. Epilepsia. 2017;58(4):512-521. doi:10.1111/epi.13709 PMID:28276062