Narcolepsy in Children and Adults: A Guide to Improved Recognition, Diagnosis and Management
Abstract
:1. Introduction
2. Inadequate and Delayed Diagnosis
3. Approach to Symptom Recognition
3.1. Pediatrics
3.2. Adults
4. Approach to Diagnosis
4.1. Sleep Testing
- ✓
- Prepare patient for length of study and description of the overnight PSG and the MSLT.
- ✓
- Evaluate medications to determine if any influence sleep latency or are REM suppressants.
- ✓
- Is it safe to temporarily discontinue these medications?
- ○
- If so, wean medication with plans to be off medication for at least 5 half-lives or 2 weeks if half-life unknown.
- ✓
- Complete sleep diaries and/or actigraphy to document usual sleep wake patterns
- ○
- Consider optimizing sleep schedule first if shift work, delayed sleep phase or chronic insufficient sleep is present.
- ✓
- Ensure PSG demonstrates at least 6 h of total sleep time prior to MSLT.
- ✓
- Evaluate PSG for additional supportive evidence of narcolepsy.
- ○
- Sleep fragmentation, RBD, REMWA, increased PLMs, SOREMP.
- ✓
- Consider Tanner Staging and age of patient when evaluating average sleep latency.
- ○
- If study is borderline and history is convincing, consider repeat study in 6 months versus CSF hypocretin (orexin), if suspicious on NT1.
- ✓
- Attempt to keep patient awake between naps during MSLT.
- ○
- If unable to do so, consider continuous recording during MSLT to evaluate sleep wake pattern.*
4.2. Human Leukocyte Antigen (HLA) Testing
4.3. Cerebrospinal fluid (CSF) Testing
- Non-diagnostic PSG/MSLT testing in a patient with cataplexy and EDS
- Non-diagnostic PSG/MSLT testing in a patient without cataplexy, EDS and HLA+
- Non-diagnostic PSG/MSLT testing in a patient with EDS, HLA+, +/− cataplexy, who is unable to discontinue REM suppressing/sleep influencing medications due to safety/medical concerns
- Pediatric patients at extreme ages (i.e less than 5 years old)
- Pediatric patients with abnormal SL based on tanner stage, but non-diagnostic based on criteria
5. Approach to Treatment
5.1. Pharmacologic Strategies
5.2. Non-Pharmacologic Strategies
6. Conclusions
Funding
Conflicts of Interest
References
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Type | Description | Example |
---|---|---|
Negative | Transient loss of antigravity muscle tone, frequently evoked by emotion. Near continuous hypotonia without emotional stimulus | Generalized collapse to the ground with preserved awareness, knee buckling, loss of tone in hands, head drop. General floppiness, abnormal/semi-ataxic gait. |
Active | Hyperkinetic features that may be enhanced by emotional stimuli. Complex Movement disorder. | Perioral/tongue movements, facial grimacing, eyebrow raising. Tic like stereotyped motor movements |
Mixed | “Cataplectic Facies” | Facial hypotonia with ptosis, mouth opening and tongue protrusion. |
Symptoms Treated | Drug | FDA Approval (Ages) |
---|---|---|
Excessive Daytime Sleepiness | Modafinil | Yes (18 years and older) |
Armodafinil | Yes (18 years and older) | |
Sodium Oxybate | Yes (ages 7 years and older) | |
Methylphenidate | Yes (ages 6 years and older) | |
Dextroamphetamine | Yes (ages 6 years and older) | |
Solriamfetol | Yes (18 years and older) | |
Pitolisant | Yes (18 years and older) | |
Cataplexy | Sodium Oxybate | Yes (ages 7 years and older) |
Venlafaxine | No | |
TCA * (e.g., protryptiline, clormipramine) | No | |
SSRI* (e.g fluoxetine) | No | |
Atomoxetine ** | No | |
EDS + Cataplexy | Sodium Oxybate | Yes (ages 7 years and older) |
Behavioral Strategy | Description |
---|---|
Strategic Caffeine | Plan use of caffeine intake to promote performance and alertness [35] |
Sleep Hygiene | Sleep related behaviors to enhance and achieve age appropriate number of hours of sleep [36] |
Sleep Scheduling | Regular sleep–wake schedule [36] |
Cognitive Behavioral Therapy | Systematic application of techniques needed to evaluate and improve behavior [37] |
Scheduled napping | Nap that is scheduled during individuals typical height of sleep inertia [38] |
Strategic napping | Planned nap of specific duration to promote performance and alertness [39] |
Support Groups | In person or online social communities for support [40] |
Exercise | Any cardiovascular activity for physical engagement [41] |
Mindfulness | Meditation and self-awareness [41] |
Yoga | breath control, simple meditation, adoption of specific postures for health/relaxation [41] |
Diet | Small, frequent meals to mitigate post-prandial. Low carbohydrate, ketogenic diet [42] |
Temperature Manipulations | Cold temperature environments and avoidance of hot environments [43] |
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Morse, A.M. Narcolepsy in Children and Adults: A Guide to Improved Recognition, Diagnosis and Management. Med. Sci. 2019, 7, 106. https://doi.org/10.3390/medsci7120106
Morse AM. Narcolepsy in Children and Adults: A Guide to Improved Recognition, Diagnosis and Management. Medical Sciences. 2019; 7(12):106. https://doi.org/10.3390/medsci7120106
Chicago/Turabian StyleMorse, Anne Marie. 2019. "Narcolepsy in Children and Adults: A Guide to Improved Recognition, Diagnosis and Management" Medical Sciences 7, no. 12: 106. https://doi.org/10.3390/medsci7120106