Telemedicine Consultation as Diagnostic Triage for Adult and Children With Suspected Narcolepsy: A Reliability and Diagnostic Accuracy Study

ABSTRACT

This study aimed at assessing the inter‐procedural reliability (compared to the in‐office consultation) and the diagnostic accuracy (compared to the reference standard) of the telemedicine consultation to guide the diagnostic workup of adults and children when complaint of excessive daytime sleepiness, possibly due to narcolepsy, is suspected. A cross‐sectional diagnostic study was initiated in 2019 and completed in 2023. Consecutive people of any age referred for excessive daytime sleepiness complaint to the Clinic for Narcolepsy in Bologna were eligible for inclusion. The telemedicine consultation was conducted via tablet for the patient and via equipped personal computer in another room for the physician (interviewer). Interviewers expressed diagnostic orientation indicating narcolepsy as ‘probable’, ‘possible’ and ‘excluded’. The final diagnosis was established by applying the International Classification of Sleep Disorders criteria. Inter‐procedural reliability and diagnostic accuracy measures were calculated. Two hundred and twenty‐one participants were included in the reliability study, 198 in the diagnostic accuracy study. The agreement between the two consultation modalities on diagnostic orientation was ‘substantial’ (Kappa 0.74, 95% CI 0.66–0.82). Agreement on the presence of narcoleptic pentad symptoms was ‘substantial’ (excessive daytime sleepiness, hypnagogic hallucinations, disrupted nocturnal sleep) or ‘almost perfect’ (cataplexy, sleep paralysis). In children reliability for excessive daytime sleepiness, cataplexy and hypnagogic hallucinations was lower. Telemedicine and in‐office consultation had identical sensitivity (100%, 95% CI 94–100) and similar specificity (43%, 95% CI 35–52, vs. 40%, 95% CI 32–49). Telemedicine consultation is a reliable diagnostic triage procedure when excessive daytime sleepiness possibly due to narcolepsy is suspected, in particular to exclude people who do not suffer from narcolepsy without the risk of false negatives.