Journal of Pediatric Neurology 8 (2010) 7980 79

DOI 10.3233/JPN-2010-0363
IOS Press
Narcolepsy in childhood
Sameer M. Zuberi

Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Yorkhill, Glasgow, UK
Received 1 March 2009
Accepted 1 March 2009
1. Introduction
Narcolepsy is characterized by excessive daytime
sleepiness and symptoms of disordered control of rapid
eye movement (REM) sleep. The boundaries between
waking and REM sleep become blurred resulting in
REM phenomena in wakefulness and features of wake-
fulness during sleep. Narcolepsy is not rare, with a
prevalence of 2550/100,000 in Western Europe, how-
ever many individuals remain undiagnosed for many
years after the onset of symptoms [1]. One third of
adults with narcolepsy describe their rst symptoms
appearing before the age of 15 and there is a clear peak
of onset in the teenage years [2].
The classic narcolepsy tetrad comprised excessive
daytime sleepiness, cataplexy (loss of muscle tone trig-
gered by strong emotion, most frequently laughter),
sleep paralysis and hypnagogic (on falling asleep) and
hypnopompic (on waking) hallucinations. Disturbed
nighttime sleep was often added to make up a pentad.
These symptoms apart from excessive daytime sleep
and cataplexy are not uncommon in unaffected individ-
uals and other sleep disorders. The International Clas-
sication of Sleep Disorders denes narcolepsy with-
out cataplexy as excessive daytime sleepiness and mul-
tiple sleep onset REMperiods on multiple sleep latency
testing (MSLT) [3].
Narcolepsy with cataplexy is associated with a de-
ciency of cerebrospinal uid (CSF) hypocretin, a

Correspondence: Dr. Sameer M. Zuberi, Fraser of Allander Neu-

rosciences Unit, Royal Hospital for Sick Children, Yorkhill, Glas-
gow G3 8SJ, UK. Tel.: +44 141 2010141; Fax: +44 141 2019270;
E-mail: sameer.zuberi@ggc.scot.nhs.uk.
neuropeptide also named orexin [4]. The tight rela-
tionship between human leukocyte antigen subtype
DQB1*0602 and narcolepsy with cataplexy, CSF
hypocretindeciency and pathological evidence of loss
of lateral hypothalamic hypocretin secreting neurons
(in post mortem specimens) has led to the hypothesis
that narcolepsy is an autoimmune disorder occurring
in individuals with a genetic predisposition [4,5]. CSF
hypocretin deciency is only found in 530% of in-
dividuals with narcolepsy without cataplexy suggest-
ing that a variety of signaling defects in the hypocretin
pathways may be responsible [6].
The excessive daytime sleepiness is typically the rst
and most prominent symptom. There is evidence in
adults that total time spent asleep is the same in indi-
viduals with and without narcolepsy; however, those
with narcolepsy can neither maintain wakefulness or
continuous sleep day or night for prolonged periods.
This results in a sense of sleepiness in the day and re-
duced levels of vigilance. Children with narcolepsy
probably sleep more in 24 h than their peers but this is
not certain.
Individuals with narcolepsy experience sleepattacks.
There is an overpowering needfor sleep leading to sleep
in unusual situations. It is important to take a drug
history and enquire about symptoms of other causes
of excessive daytime sleepiness including obstructive
sleep apnea. Many children try to hide their sleepiness
and will increases levels of motor activity and self-
stimulation, sometimes becoming disruptive at home
and in the classroom. Close observation of the child in
the clinic may reveal that they are dgeting or pinching
themselves or rolling their tongue around their mouth
to stay awake.
1304-2580/10/$27.50 2010 IOS Press and the authors. All rights reserved
80 S.M. Zuberi / Narcolepsy
Cataplexy is the most useful diagnostic indicator. It
typically appears after the onset of excessive sleepiness,
sometimes delayed by years. The child remains awake
but the emotional stimulus leads to REM sleep paral-
ysis. Many children with narcolepsy have a degree of
persistent loss of tone, which may be most evident in
the facial muscles givinga particular gestalt appearance
when a child rst walks into the clinic. Sometimes
the anticipation of emotion is the clear trigger, such as
prior to a stressful or exciting event. The loss of tone
may be partial or complete and sometimes asymmetric.
In some cases, there is a caudal to rostral progression
of the weakness with head and facial muscles affected
rst. There may be a variable degree of control re-
maining over muscle tone and the individual may seek
to contract muscle groups and maintain posture. When
this happens in the face, it may be confused with fa-
cial myoclonus and in the limbs it may be mistaken for
clonic jerking [7]. If the stimulus persists, the loss of
tone may persist and the individual may be in status
cataplecticus for several minutes. If this does occur, a
diagnosis of cataplexy is supported by loss of the deep
tendon reexes. Videotape of events is invaluable and
should be actively sought [7]. Cataplexy is state depen-
dant and more likely to occur when relaxed therefore
the neurologist telling a joke the rst time he sees a
child is not likely to elicit the symptom. Narcolepsy
may mimic epilepsy [7].
There are rare disorders in which cataplexy or cata-
plexy like disorders may occur these include Niemann
Pick type C, Norrie disease, Cofn-Lowry syndrome
and Prader- Willi syndrome [8].
Hypnagogic and hypnopompic hallucinations are
dreamlike hallucinations that intrude into wakefulness
before falling asleep or on waking. They often have
very frightening content [9].
Many children nd that they put on signicant
amounts of weight in association with the onset of ex-
cessive sleepiness. This may result in clinical obesity
Levels of exercise also reduce and this may contribute
to the weight gain.
Investigations can support the clinical diagnosis. Not
nding HLA DQB1*0602 is more clinically important
than nding it, as this subtype is tightly associated with
narcolepsy with cataplexy but is also common in the
general population. The MSLT is the most widely used
investigation. The normal sleep latency is greater than
10 min with a borderline range of 510 min. More than
two sleep onset REM periods in the MSLT are support-
ive of a narcolepsy diagnosis but it should be noted that
children may have sleep onset REM. CSF hypocretin
level estimation is useful where there is diagnostic un-
certainty. However, a normal level does not exclude
the diagnosis [4].
Changes to lifestyle and behavior are equally if not
more important than medication. Daytime naps should
be programmed and support from a dietician and phys-
iotherapist may also be helpful.
Medications have been traditionally divided into
those that promote wakefulness (modafanil, methylph-
enidate, dexamphetamine and atomexetine) and those,
which can improve cataplexy (venlafaxine, uoxetine,
clomipramine and imipramine). Acareful balance must
be sought between potential adverse effects and bene-
ts. The only medication in which good quality trials
have shown a reduction in cataplexy in adults is sodi-
um oxybate. There is increasing evidence that it can
reduce excessive daytime sleepiness and cataplexy in
childhood narcolepsy [10]. Sodiumoxybate is now the
rst line medication in many pediatric sleep centers.
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