Narcolepsy w/cataplexy

clinical features of EDS

Inability to stay awake and alert during the day, resulting in lapses into drowsiness to sleep Repeated napping throughout the day Feeling refreshed upon awakening for a couple of hours. Can vary in severity and usually occurs during monotonous tasks that do not require participation. Severe sleepiness can result in automatic behavior that is: semiconscious continuation of activity in the midst of sleep attacks with no memory of the event.

Automatic Behavior

Inappropriate activity in a semiautomatic fashion without memory or consciousness

medications

Modafinil (Provigil) - recently approved for use in the United States for the treatment of EDS associated with narcolepsy. Modafinil improves wakefulness with a different mechanism of action than traditional stimulants. Side effect - headache

Nocturnal Sleep Disruption

frequent awakenings and difficulty maintaining sleep

daytime naps

scheduled naps lasting 15 - 20 minutes, sometimes longer help to refresh the patient. Naps should be scheduled during breaks, at lunch and at the end of the day. Along with medication naps can frequently produce improvement in EDS.

development of nocturnal sleep

specific bed times and wake times. Avoid shift work and activities that cause an irregular sleep/wake schedule.

Epworth Sleepiness Scale

A questionnaire that gives a subjective measurement of daytime sleepiness. Response to each question on a scale from 0 (will never doze or sleep) to 3 (high chance of dozing or sleeping) is obtained Total score is between 0 and 24 Total scores above 10 generally warrant investigation. used to determine the level of daytime sleepiness. A score of 10 or more is considered sleepy. A score of 18 or more is very sleepy.

pathology

Genetic and non-genetic predisposing factors are suspected Genetically associated with the loss of hypothalamic neurons containing hypocretin and human leukocyte antigen (HLA) subtype DQB1*0602 Non-genetically associated with head trauma, abrupt change in s/w patterns, sustained sleep deprivation or unspecified viral illness

stimulants

Methylphenidate (Ritalin, Novartis), dextroamphetamine (Dexedrine, DextroStat). Used in the treatment of EDS associated with narcolepsy. Side effects - headache, irritability, nervousness, and gastrointestinal complaints. Nocturnal sleep may be impaired, thus decreasing sleep time.

Cataplexy

Sudden loss of bilateral muscle tone with sudden strong emotions that are usually positive: laughter, pride, elation or surprise • Negative emotions (anger) may trigger cataplexy • May involve certain muscles or entire body and varies in pattern, frequency, and severity ranging from: • knees, face and neck • Lower/upper limbs may be affected, neck, mouth, eyelids • Blurred vision may be caused by oculomotor involvement • Jaw may sag causing slurred speech • Head may fall forward Whole body may collapse during total body paralysis with inability to open eyes • There is no loss of consciousness, the patient is alert and oriented to the environment, memory is not affected • Attack may last from a few seconds to a few minutes, and can last longer with complete recovery or may be followed by sleep • Can occur a few times a year to multiple attacks a day

NPSGT

The night before daytime testing (MSLT, MWT) a test (minimum of 6 hours of sleep) should be performed which may indicate the underlying cause of EDS and/or the nocturnal sleep disruption the patient experiences. Coexisting sleep disorders may be present. Usually see a short sleep latency of less than 10 minutes and SOREM is frequently seen Increases in N1 and frequent awakenings

Sleep Paralysis

Transient inability to move or speak between sleep and wakefulness • Episodes last a few seconds to several minutes • Patient may experience the inability to breathe even though the diaphragm is unaffected • This condition and hypnagogic/hypnopompic hallucinations frequently occur together causing increased anxiety

Cataplexy Treatments

Tricyclic Antidepressants - Anafanil (chlomipramine) and imipramine (Tofranil). will also treat hypnagogic/hypnopompic hallucinations and sleep paralysis. Selective serontin uptake inhibitors (SSRIs): Fluoxetine (Prozac)

support groups & counseling

patients family, friends and work place need to be educated to understand the support that is necessary to help the quality of life of individuals with narcolepsy.

Hypnagogic Hallucinations

Vivid dreamlike experiences occurring at sleep onset (hypnagogic) or upon awakening (hypnopompic) with the realistic awareness of the presence of someone or something. Often the patient's environment is incorporated into the dream-images Experiences are usually sensory, involving brief visual, tactile, kinetic, or auditory events Frequently accompanied by fear or dread which disturbs the patient

Narcolepsy w/ cataplexy

characterized by excessive daytime sleepiness (EDS), there is a rapid transition from wakefulness to REM sleep frequently while experiencing other pathological manifestations of REM sleep. Onset occurs after five years of age, typically presenting between 15-25 years. Sleepiness is usually the first symptom with cataplexy occurring within one year of EDS onset. Hypnagogic hallucinations, sleep paralysis, and disturbed nocturnal sleep occur later in the course of the disease

MSLT

objectively evaluates the severity of the EDS complaint, and provides information on the patients sleepiness episodes (SOREM). mean sleep latency of < 8 minutes, and 2 or more SOREM naps