obophenotype / human-phenotype-ontology

Ontology for the description of human clinical features
http://obophenotype.github.io/human-phenotype-ontology/
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NTR: REM sleep behavior disorder on sleep EEG (Lab: neurophysiology: EEG) #9048

Closed pnrobinson closed 2 months ago

pnrobinson commented 1 year ago

New term request REM sleep behavior disorder on sleep EEG (kalia_091014025726): Dream-enacting behavior; physically act out vivid, often unpleasant dreams with vocal sounds and sudden, often violent arm and leg movements during REM sleep; The affected individual may inflict self-injury or harm others, and is difficult to awaken from such episodes. Episodes are usually followed by a vivid recollection of a dream that is consistent with the aggressive behavior. RBD UMLS: 0751772

pnrobinson commented 1 year ago

the HPO would code this item as well as #9049 with Sleep disturbance HP:0002360, i.e., it would not code the mode of diagnostics. However, the description here goes into some detailed manifestations. We are currently explaning the behavioral branch of the HPO and this might be appropriate there.

MickeySegal commented 1 year ago

This needs to be re-opened. As detailed at http://www.sleepfoundation.org/parasomnias/rem-sleep-behavior-disorder this is a very distinct type of sleep disorder and needs to be one of the several terms under HP:0002360. We have a second finding segal_220706150439 that is the same finding but diagnosed by history from the spouse, but you can give the same code to both.

pnrobinson commented 1 year ago

@MickeySegal -- reopening!

pnrobinson commented 9 months ago

@MickeySegal I think this is a synonym for the relatively new term HP:5200299, REM parasomnia Unless there is a distinction, I will add this as a synonym.

https://www.sleepfoundation.org/parasomnias/rem-sleep-behavior-disorder REM sleep behavior disorder is a condition characterized by sudden body movements and vocalizations while a person experiences vivid dreams during REM sleep Trusted Source National Library of Medicine, Biotech Information The National Center for Biotechnology Information advances science and health by providing access to biomedical and genomic information. View Source . It is a specific type of parasomnia, which describes abnormal behaviors during sleep.

MickeySegal commented 8 months ago

https://www.sleepfoundation.org/parasomnias lists 3 types of REM parasomnias, which have very different pathological implications:

So the requested term should not be considered a synonym; instead it should be a subtype.

Also, you already have sleep paralysis https://hpo.jax.org/app/browse/term/HP:0025233 under a different hierarchy; you may want to add REM parasomnia as another parent term.

pnrobinson commented 3 months ago

In the meantime some terms have been added:

HP:5200291 Term Name: Sleep enactment (synonym of REM sleep behavior disorder)

-- rearrange and add synonyms

pnrobinson commented 3 months ago

@MickeySegal I have rearranged the three parasomnias as recommended. The HPO typically does not record the diagnostic modalities of a term to avoid having a proliferation of terms that mean the same or nearly the same thing. Would it be appropriate to mention the EEG finding in the term or is there a clinical distinction between people with clinical Sleep enactment and EEG Sleep enactment findings?

MickeySegal commented 2 months ago

We use 2 terms because of their different costs, but it makes sense to use the same HPO term for the conclusion reached. The issue, though, is by using the HPO code for clinical ascertainment one may be implying having done the EEG test when all that was done is history.

pnrobinson commented 2 months ago

@MickeySegal no model is perfect...but this kind of precision can be obtained if patients are coded using the Phenopacket Schema. I will close for now.

MickeySegal commented 2 months ago

OK. This is not an issue here because https://hpo.jax.org/browse/term/HP:5200291 is titled "Sleep enactment".