split term or relabel?: infantile spasms (currently synonym of West syndrome)

[nicolevasilevsky]

Term to split: MONDO:0018097 West syndrome

Name for new terms: MONDO:0018097 West syndrome NEW infantile spasms

I had a discussion with folks from CURE Epilepsy (https://cureepilepsy.org/) and they said infantile spasms can occur in West syndrome but may also happen independently of a West syndrome diagnosis.

It does seem like these terms are often used interchangeably though, see:

• https://www.epilepsy.com/what-is-epilepsy/syndromes/infantile-spasms-west-syndrome

Evidence supporting a split or relabel:

• https://www.ninds.nih.gov/health-information/disorders/infantile-spasms - they say "An epileptic spasm is a specific type of seizure seen in an epilepsy syndrome of infancy and childhood often called West Syndrome"
• https://www.childrenshospital.org/conditions/infantile-spasms - "Infantile spasms, sometimes called West syndrome, are a type of seizure that occurs in babies.
• https://www.chop.edu/conditions-diseases/infantile-spasms-syndrome-west-syndrome -" Previously, infantile spasms syndrome was also called West syndrome."
• https://www.epilepsy.org.uk/info/syndromes/west-syndrome-infantile-spasms - "Infantile epileptic spasms syndrome (IESS), previously known as West syndrome, is a type of epilepsy syndrome that develops in infants under 2 years old."

Or maybe we should rename the term to 'infantile spams' and make West syndrome a historic (deprecated) synonym?

[nicolevasilevsky]

See this paper: https://onlinelibrary.wiley.com/doi/10.1111/epi.17239

"Infantile epileptic spasms syndrome (IESS) IESS is a term proposed to encompass both West syndrome as well as infants presenting with epileptic spasms who do not fulfil all the criteria for West syndrome (Table 7). West syndrome classically referred to the triad of epileptic spasms, hypsarrhythmia, and developmental stagnation or regression.121 However, infants with IESS often lack one of these three criteria. For example, the developmental impact may not be apparent or typical hypsarrhythmia may not be present. This concern was previously identified by the West Delphi group, who proposed the term Infantile Spasms syndrome for all cases of infantile spasms, regardless of EEG findings, and retained the term West syndrome for cases in which hypsarrhythmia was associated, regardless of developmental regression.122 This change emphasizes the importance of early diagnosis and therapy because shorter lag time to treatment is associated with a better outcome.123 The addition of the term “epileptic” to the name of the syndrome was done upon the request of many pediatric neurology/epilepsy experts in order to avoid any confusion with nonepileptic spasms and to emphasize the epileptic nature of this syndrome."