Cataplexy is key in narcolepsy diagnosis

by Robert Finn Pediatric News, 04/01/07 by Robert Finn

ANCHO MIRAGE, CALIF. -- The most recent diagnostic criteria make it imperative to determine whether
hypersomnolent children also exhibit cataplexy, Dr. Emmanuel Mignot said at a meeting on sleep disorders in
infancy and childhood.
The 2005 edition of the International Classification of Sleep Disorders (ICSD-2) differentiates between two types of
narcolepsy, one with and the other without cataplexy. The previous edition only listed a single narcolepsy diagnosis.
"Cataplexy is almost pathognomonic for narcolepsy," said Dr. Mignot of Stanford (Calif.) University. "But it's
sometimes a little bit overdiagnosed."
True cataplexy involves sudden and transient episodes of atonia that are triggered by emotions, and most commonly
follow laughter or excitement. It's those triggers that differentiate cataplexy from nonspecific episodes of muscle
weakness. Patients usually remain conscious while they are cataplectic.
"I usually start my interview of patients with hypersomnolence with very careful, nonleading [questions about]
cataplexy, because if the cataplexy is present, you have your diagnosis," Dr. Mignot said at the meeting sponsored
by the Annenberg Center for Health Sciences.
The population prevalence of narcolepsy with cataplexy is about 1 in 2,000 with the typical onset during
adolescence. Although there are no reliable estimates of the population prevalence of narcolepsy without cataplexy,
Dr. Mignot estimated that it's about half as frequent as the other type.
Additional diagnostic criteria for narcolepsy with or without cataplexy include at least 3 months of excessive
daytime sleepiness and abnormally low scores on the mean sleep latency test (MSLT).
While the old criteria required an MSLT of 5 minutes or less, the new criteria allow for a narcolepsy diagnosis with
MSLTs as high as 8 minutes. This addition increases sensitivity without compromising much on specificity. In
addition, there must be two or more sleep-onset REM periods (SOREMP). An MSLT must be conducted after a
polysomnographically confirmed full night of sleep--at least 6 hours.
If the patient clearly has cataplexy, an MSLT would not strictly be required for the diagnosis, but despite the cost,
Dr. Mignot recommended that it be done anyway. Somewhere down the line an insurance company might doubt the
diagnosis, and the presence of an MSLT in the chart could prevent disputes over a patient's prescription.
According to the new diagnostic criteria, the MSLT must not be conducted unless the patient has been withdrawn
from all psychotropic drugs, many of which have REM suppressant effects. MSLTs also are unreliable if the patient
has other sleep disorders such as obstructive sleep apnea, insufficient sleep, or circadian rhythm disorder.
A patient who cannot easily be withdrawn from a psychotropic medication might prompt Dr. Mignot to depart from
his recommendation that even patients with cataplexy have MSLTs.
The presence of low levels of hypocretin (less than 110 pg/mL or one-third of mean normal control values) in the
cerebrospinal fluid is also diagnostic of narcolepsy, but obtaining CSF requires a lumbar puncture, and most labs are
not equipped to measure hypocretin levels. In addition, most insurers do not cover this test.
On the other hand, Dr. Mignot pointed out that lumbar punctures are relatively easy in young children, and it's these
same children who often don't follow instructions during polysomnography and MSLT. And if a local lab can't
measure CSF hypocretin, Dr. Mignot told the audience that they were welcome to send samples to his lab for
analysis as long as they and their patient were first willing to enroll in a research study before ordering the lumbar
puncture.
For further information, contact Mali A. Einen at einen@stanford.edu or 650-725-6512.
ARTICLES BY ROBERT FINN
San Francisco Bureau