Narcolepsy at birth What to know
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Share on PinterestMayte Torres/Getty ImagesNarcolepsy is a rare, long-term sleep disorder that causes excessive daytime sleepiness and fragmented sleep. This condition affects the brain’s sleep-wake control. No research can currently answer whether a person is born with narcolepsy. However, studies show that infection, trauma, and injury may trigger autoimmune mechanisms in genetically predisposed individuals, leading to narcolepsy. The onset of narcolepsy symptoms often begins in childhood to adolescence, with nearly half of individuals developing symptoms in their teens. Less than 1 in every 100,000 children develop the condition at a young age (0–6 years old). Symptoms rarely appear in children under children ages 5 to 6. This article explores possible causes of narcolepsy, symptoms, who is affected, diagnosis, and treatments. Causes of narcolepsy Experts are not entirely sure what causes narcolepsy. There are two types: Type 1 (NT1) and type 2 (NT2). Learn more about type 1 and 2 narcolepsies. Type 1 narcolepsy (NT1) or narcolepsy with cataplexy links with a complete or near-complete loss of hypocretin-producing cells in the hypothalamus. Meanwhile, 10–30% of people with narcolepsy type 2 (NT2) or narcolepsy without cataplexy have reduced hypocretin. Hypocretin, also called orexin, is a neurotransmitter that plays a significant role in maintaining wakefulness and arousal and other essential body functions such as energy metabolism and appetite control. The cell loss in people with NT2 appears to be due to an autoimmune process where the immune system attacks the neurons producing hypocretin. 30–50% of people with NT2 are “DQB1*06:02-positive”. Research also associates NT1 with the same gene. Read more about genes and narcolepsy. Triggers Possible triggers include infections such as:the H1N1 infection and a specific H1N1 vaccine (Pandemrix)seasonal upper airway infectionstreptococcal infections A 2015 study found that streptococcal infection could be a causal factor in narcolepsy in infants. Symptoms of narcolepsy Excessive daytime sleepiness is the first symptom of narcolepsy to appear in children. However, its presentation may differ from in adults. Children may express their sleepiness in distinct, developmentally related responses, including:excessive hyperactivityemotional dysregulationaggressionirritabilityrestlessness Learn more about narcolepsy in children. Other symptoms Excessive daytime sleepiness in children also may cause:naps that last from 2–3 hours in preschool and school-age childrensleep drunkennessextreme difficulty arousing in the morningaggressive behaviortantrums Cataplexy, a condition where a person suddenly loses muscle tone while awake, may present differently in children. In children, these attacks may happen spontaneously, are usually longer, and are accompanied by “cataplectic facies,” a distinct feature in childhood narcolepsy. It involves jaw and eyelid weakness (ptosis) and tongue protrusion. Slurred speech, neck extension, and movements such as facial grimacing and self-scratching are also common. Other symptoms common both in children and adults include:sleep paralysishypnagogic hallucinationsnightmareshypnopompic hallucinations nighttime sleep disturbances School-related symptoms Children with narcolepsy often have problems in school and are bullied for their behavior. Some school-related symptoms include:forgetfulness and memory problemspoor attention and concentrationirritability and moodinessbeing disciplined for falling asleep in classtardinesslabeled as dull, unmotivated, or lazy Lack of sleep is common among adolescents and teens, making excessive daytime sleepiness challenging to diagnose. A 2021 study stated that younger people with narcolepsy reported difficulties in:focusing and memoryschoolworryanxietynutrition and dietlack of motivationmood problemsrelationship problems Compared to narcolepsy that begins before puberty, adolescent narcolepsy also presents with fewer and shorter naps, less severe cataplexy, and loss of movements. However, it does feature more recurrent and severe episodes of sleep paralysis. Who else is affected A family history of narcolepsy and exposure to environmental triggers such as upper airway infections can increase a person’s risk of narcolepsy. Secondary NT1 and NT2 may also occur in association with injury, other neurological conditions, or genetic diseases, including:traumatic brain injury with damage to the hypothalamusGuillain-Barre syndromelimbic encephalitismultiple sclerosiscongenital brain malformationsNiemann-Pick disease type Cother inherited neurodegenerative conditions Diagnosing narcolepsy Early presentations of narcolepsy are generally subtle, leading to underdiagnosis and a delay of 5–10 years before a child receives a diagnosis for narcolepsy. Doctors also often misdiagnose them with:seizuresattention deficit hyperactivity disorderother behavioral disordersdepressionschizophrenia (due to misinterpretation of the hypnagogic hallucinations) To diagnose narcolepsy in a child, the doctor will ask about their medical and family history, perform a physical exam, and recommend several tests, including:Blood tests: The doctor may request complete blood count and thyroid function tests to help rule out other conditions.Polysomnogram sleep test (PST): To rule out other sleep disorders, doctors may perform an overnight sleep study which involves recording and monitoring:brain wavesrapid eye movementheart rateoxygen levels Multiple sleep latency tests (MSLT): Doctors perform this test the next day after PST. In this test, the doctor will ask that the child takes five naps within the day, separated by 2 hours. This test checks how quickly the child can fall asleep and whether REM sleep occurs too soon.Spinal fluid test: This test gets a sample of cerebrospinal fluid to check hypocretin levels.Sleep journal: A doctor may ask the parent or caregiver to journal sleep length and the presence of other symptoms such as sleep paralysis for 1 to 2 weeks. Learn more about the diagnosis of narcolepsy. Treating and managing narcolepsy in children While it has no cure for narcolepsy, medications and behavior changes can help manage it. Doctors generally recommend a combination of both. Medications Different medications can treat narcolepsy. Below are examples of the main types used in adults:Wake-promoting agents: These help keep the child awake during the daytime. Examples are Provigil (modafinil) and amphetamine.Antidepressants: These medications reduce cataplexy. Examples of antidepressants include tricyclics and selective serotonin reuptake inhibitors.Sedatives: These drugs promote nighttime sleep. Sodium oxybate (Xyrem) is a sedative approved by the Food and Drug Administration (FDA) to treat excessive daytime sleepiness and cataplexy. However, narcolepsy medications used in adults do not have approval for use in children with the exception of Xyrem, which has been approved in pediatric patients aged 7 to 17 years. Lifestyle changes The following strategies often accompany drug therapy to help the child cope with narcolepsy:maintaining a regular sleep scheduletaking short napsexercising dailyavoiding eating heavy meals before bedtimeavoiding caffeinated drinks before bedavoiding using devices or watching television before going to bedperforming relaxing activities before bed, such as drinking warm milk or having a warm bath Read more about good sleep hygiene. Education Parents and caregivers should work with the child’s teachers and coaches. They can also educate their family members about their condition and how this may affect their behavior and overall functioning. Summary Narcolepsy is a chronic condition. It can occur at any age, though it commonly develops in childhood to young adulthood. It is uncertain if a person can be born with narcolepsy. Current research can not definitely tell us if someone can be born with narcolepsy, but research has shown that some people may have a genetic predisposition for narcolepsy. This predisposition for narcolepsy can lead to narcolepsy if triggered by environmental factors such as seasonal infections or other medical conditions. Doctors often misdiagnose narcolepsy in children for another condition. If a child shows excessive sleepiness in the morning and is often irritable or hyperactive, it is best to consult a doctor to see if the child has a sleeping disorder and help rule out other possible conditions. Last medically reviewed on July 3, 2022Sleep / Sleep Disorders / InsomniaMedically reviewed by Meir Kryger, MD, FRCP(C) — By Rachel Ann Tee-Melegrito on July 3, 2022 Latest newsWhat sets 'SuperAgers' apart? Their unusually large neuronsOmega-3 may provide a brain boost for people in midlifeSeasonal affective disorder (SAD): How to beat it this fall and winterCDC: Monkeypox in the US 'unlikely to be eliminated in the near future'Why are more women prone to Alzheimer's? New clues arise Related CoverageIs narcolepsy a genetic condition? There is no evidence of a single gene that causes narcolepsy. However, certain genes may increase the risk of developing the condition. Learn more. READ MOREIs narcolepsy an autoimmune disease? A new study suggests narcolepsy is caused by an autoimmune process that triggers loss of cells that maintain the delicate equilibrium between sleep…READ MORENarcolepsy and pregnancy: What to expect People with narcolepsy often have healthy pregnancies, but they may have to stop their medication. Learn more about narcolepsy and pregnancy.READ MOREXyrem (sodium oxybate)Medically reviewed by Alex Brewer, PharmD, MBA Xyrem (sodium oxybate) is a brand-name prescription drug that’s used to treat narcolepsy. Learn about side effects, warnings, dosage, and more.READ MOREWhat to know about tests for narcolepsy Doctors can use several tests to check for narcolepsy, but a polysomnography and a multiple sleep latency test are necessary for a diagnosis. Learn…READ MORE