practice - canadian medical association journal · 2006. 2. 15. · structive sleep apnea syndrome...

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P ractice Case 1: Eleven-year-old Alan has had problems at school for the last 18 months. He has severe problems with inattention and an inability to concen- trate, and he cannot sit still for any length of time. Attention deficit hyperac- tivity disorder (ADHD) was diagnosed 10 months ago by his family physician, but treatment with escalating doses of meth- ylphenidate (now 10 mg at breakfast and lunch) has been unsuccessful; he still ex- periences a continual and disruptive need to move about. For example, when watching television, he usually steps up and down continuously on the lowest step of the staircase adjoining the fam- ily’s living room. He also seems unable to stay seated during dinner with his family. The problem is worse at the end of the day, and his mother describes him as having “restless legs” that make it dif- ficult for him to get to sleep. He’s often not rested the next morning, and his mother worries that, unless something is done, he may fail his school year. Case 2: Scott, previously well and 17 years old, is referred back to his family physician from the emergency depart- ment to check a wound on his forehead received during a fight at a pub. Appar- ently 5 police officers were required to restrain him. He was kept in custody over the weekend, but he seems untrou- bled by this, saying he managed to sleep through most of the incarceration pe- riod. Scott denies using any street drugs and claims to have consumed only one drink the night of the fight. A normal blood alcohol level and negative toxicol- ogy screen result at the time of his emer- gency visit support this. He recalls hav- ing fallen asleep at his table at the pub and being woken up by a bouncer. He also recalls feeling briefly very confused, starting a fight and feeling out of con- trol. Such a scenario — falling asleep suddenly and waking up in a state of confusion — has occurred several times in the past 2 years. Having dropped out of school in grade 10, he works helping to unload delivery trucks. He hopes to be allowed to drive on his own soon, but he is frankly worried about his frequent problems with somnolence. Insomnia and fatigue are common sleep- related problems in adult general prac- tice. Sleep disorders are also common in pediatrics, with as many as 17% of ado- lescents having unrestorative sleep. 1 However, many of these children may re- port seemingly unrelated problems. In one study of children ultimately found to have sleep disorders, almost a quarter ini- tially presented with seemingly unrelated problems ranging from hyperhydrosis to academic deterioration. 2 This echoes our experience in an academic sleep clinic, where many children present with a vari- ety of problems that are often ultimately found to be related to an underlying sleep disorder (Box 1). A detailed history (Box 2), physical examination, laboratory tests and a sleep assessment involving polysomnography are usually required to help rule out other disorders and un- mask these sleep disorders. We aim to highlight a few key sleep disorders that masquerade as common, nonspecific pediatric conditions, including behav- ioural problems and excessive daytime sleepiness. Behavioural problems and symptoms of attention deficit hyperactivity disorder Restless legs syndrome (RLS) and ob- structive sleep apnea syndrome (OSAS) (Box 3) are 2 sleep-related problems that can lead to behavioural symptoms often misdiagnosed as an attention deficit dis- order. Patients with RLS or OSAS have impeded restorative sleep and can expe- rience increased daytime sleepiness and problems with inattention, inability to focus and distractability. 3 These chil- dren may present with learning difficul- ties, aggression, cognitive deficits and bedwetting. Indeed, children who seek mental and motor stimulation to cope with their excessive daytime sleepiness may appear hyperactive but are quite re- fractory to pharmacologic therapy for ADHD such as stimulants. Off-label pharmacologic treatments for pediatric RLS include dopaminergic agents (such as selegiline) (for a com- plete list see p. 31 in Fighting Fatigue and Sleepiness, listed in Additional Reading at the end of this article). These agents appear to reduce limb move- ments during sleep, which allows restorative sleep to occur and many chil- dren’s secondary ADHD-like symptoms to improve. OSAS is often treated with measures including weight loss (for obese children) and correcting sleep po- sition. Adenoidectomy or tonsillectomy is sometimes helpful and may also help to alleviate concurrent ADHD-like symptoms in some children with OSAS. 3 DOI:10.1503/cmaj.1040993 CMAJ February 28, 2006 174(5) | 617 © 2006 CMA Media Inc. or its licensors Sleep disorders presenting as common pediatric problems Teaching Case Report Box 1: Common pediatric conditions often associated with an underlying sleep disorder Medical Gastroesophageal reflux • Obesity Failure to thrive Musculoskeletal pains Sleep-related Daytime sleepiness • Snoring Restlessness during sleep • Bedwetting Behavioural or psychological Hyperactivity and attention deficits Learning difficulties Reduced achievement at school • Aggression Cognitive deficits Alcohol or drug use, cigarette smoking • Depression • Anxiety

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Page 1: Practice - Canadian Medical Association Journal · 2006. 2. 15. · structive sleep apnea syndrome (OSAS) (Box 3) are 2 sleep-related problems that can lead to behavioural symptoms

Practice

Case 1: Eleven-year-old Alan has hadproblems at school for the last 18months. He has severe problems withinattention and an inability to concen-trate, and he cannot sit still for anylength of time. Attention deficit hyperac-tivity disorder (ADHD) was diagnosed 10months ago by his family physician, buttreatment with escalating doses of meth-ylphenidate (now 10 mg at breakfast andlunch) has been unsuccessful; he still ex-periences a continual and disruptiveneed to move about. For example, whenwatching television, he usually steps upand down continuously on the loweststep of the staircase adjoining the fam-ily’s living room. He also seems unableto stay seated during dinner with hisfamily. The problem is worse at the endof the day, and his mother describes himas having “restless legs” that make it dif-ficult for him to get to sleep. He’s oftennot rested the next morning, and hismother worries that, unless something isdone, he may fail his school year.

Case 2: Scott, previously well and 17years old, is referred back to his familyphysician from the emergency depart-ment to check a wound on his foreheadreceived during a fight at a pub. Appar-ently 5 police officers were required torestrain him. He was kept in custodyover the weekend, but he seems untrou-bled by this, saying he managed to sleepthrough most of the incarceration pe-riod. Scott denies using any street drugsand claims to have consumed only onedrink the night of the fight. A normalblood alcohol level and negative toxicol-ogy screen result at the time of his emer-gency visit support this. He recalls hav-ing fallen asleep at his table at the puband being woken up by a bouncer. Healso recalls feeling briefly very confused,

starting a fight and feeling out of con-trol. Such a scenario — falling asleepsuddenly and waking up in a state ofconfusion — has occurred several timesin the past 2 years. Having dropped outof school in grade 10, he works helpingto unload delivery trucks. He hopes to beallowed to drive on his own soon, but heis frankly worried about his frequentproblems with somnolence.

Insomnia and fatigue are common sleep-related problems in adult general prac-tice. Sleep disorders are also common inpediatrics, with as many as 17% of ado-lescents having unrestorative sleep.1

However, many of these children may re-port seemingly unrelated problems. Inone study of children ultimately found tohave sleep disorders, almost a quarter ini-tially presented with seemingly unrelatedproblems ranging from hyperhydrosis toacademic deterioration.2 This echoes ourexperience in an academic sleep clinic,where many children present with a vari-ety of problems that are often ultimatelyfound to be related to an underlyingsleep disorder (Box 1). A detailed history(Box 2), physical examination, laboratorytests and a sleep assessment involvingpolysomnography are usually required tohelp rule out other disorders and un-mask these sleep disorders. We aim tohighlight a few key sleep disorders thatmasquerade as common, nonspecificpediatric conditions, including behav-ioural problems and excessive daytimesleepiness.

Behavioural problems andsymptoms of attention deficithyperactivity disorder

Restless legs syndrome (RLS) and ob-structive sleep apnea syndrome (OSAS)(Box 3) are 2 sleep-related problems thatcan lead to behavioural symptoms oftenmisdiagnosed as an attention deficit dis-order. Patients with RLS or OSAS haveimpeded restorative sleep and can expe-rience increased daytime sleepiness andproblems with inattention, inability tofocus and distractability.3 These chil-

dren may present with learning difficul-ties, aggression, cognitive deficits andbedwetting. Indeed, children who seekmental and motor stimulation to copewith their excessive daytime sleepinessmay appear hyperactive but are quite re-fractory to pharmacologic therapy forADHD such as stimulants.

Off-label pharmacologic treatmentsfor pediatric RLS include dopaminergicagents (such as selegiline) (for a com-plete list see p. 31 in Fighting Fatigueand Sleepiness, listed in AdditionalReading at the end of this article). Theseagents appear to reduce limb move-ments during sleep, which allowsrestorative sleep to occur and many chil-dren’s secondary ADHD-like symptomsto improve. OSAS is often treated withmeasures including weight loss (forobese children) and correcting sleep po-sition. Adenoidectomy or tonsillectomyis sometimes helpful and may also helpto alleviate concurrent ADHD-likesymptoms in some children with OSAS.3D

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CMAJ • February 28, 2006 • 174(5) | 617© 2006 CMA Media Inc. or its licensors

Sleep disorders

presenting as common

pediatric problems

Teaching Case Report

Box 1: Common pediatricconditions often associated withan underlying sleep disorder

Medical

• Gastroesophageal reflux

• Obesity

• Failure to thrive

• Musculoskeletal pains

Sleep-related

• Daytime sleepiness

• Snoring

• Restlessness during sleep

• Bedwetting

Behavioural or psychological

• Hyperactivity and attentiondeficits

• Learning difficulties

• Reduced achievement at school

• Aggression

• Cognitive deficits

• Alcohol or drug use, cigarettesmoking

• Depression

• Anxiety

Page 2: Practice - Canadian Medical Association Journal · 2006. 2. 15. · structive sleep apnea syndrome (OSAS) (Box 3) are 2 sleep-related problems that can lead to behavioural symptoms

Excessive daytime sleepiness

Although excessive daytime sleepinessis commonly perceived as simple“teenage laziness” or even depression,it may actually herald an underlyingsleep disorder. Children who experi-ence excessive daytime sleepinessoften have reduced academic and ex-tracurricular performance, so identify-ing and correcting the underlyingproblem is often desired by parentsand teens alike. Two disorders thatusually emerge in the teenage yearsand can cause excessive daytime sleep-iness include delayed sleep phase syn-drome (DSPS) and narcolepsy.

DSPS is a disorder of the circadianrhythm characterized by difficulties infalling asleep. Sleep onset may occuronly in the early hours of the morning.If an affected person needs to awaken ata specific time in the morning (e.g., forschool), sleep deprivation often results,and excessive daytime sleepiness is ob-served. The prevalence of DSPS is notknown. It appears to be caused by an ir-regularity in the secretion patterns ofmelatonin, the hormone that controlsthe body clock. A sleep study can helpto delineate the condition, but moredefinitive tests include a Dim LightMelatonin Onset study. In this test thepatient’s melatonin secretion rate is typ-ically monitored using saliva samplestaken in a dark room from 7 pm to 3–4am. The usual increase in melatonin

levels at 8–9 pm is delayed in adoles-cents with a phase delay disorder.

Narcoleptic patients can experiencesleep attacks, and often cataplexy(characterized by episodes of a fewseconds to a few minutes in durationof sudden loss of muscle tone) andhypnagogic hallucinations. The sleepattacks are experienced as excessivedaytime sleepiness with irresistibleurges to sleep for a few minutes (up tohalf an hour). The urge to sleep is notrelieved by any amount of sleep takenthe night before, but affected peoplemay feel briefly refreshed after an at-tack. The prevalence of the conditionvaries according to ethnicity: around 1in 3000 Europeans but 1 in 600 Japan-ese will experience the condition. Pre-dispositions to narcolepsy are inher-ited, and although the exact cause isnot clear, rapid eye movement (REM)sleep is abnormally regulated. Af-fected people may have chronic ex-cessive daytime sleepiness betweenattacks. Attacks are sometimes pre-vented by staying mentally and physi-cally active.

DSPS can be managed with mela-tonin therapy and behavioural strate-gies. Narcolepsy is often treated withstimulants such as methylphenidateand dextroamphetamine, the α-1 adren-ergic agent modafinil (which increasesalertness), antidepressants if the patientexperiences cataplexy, or hypnoticagents (e.g., zopiclone) to help frag-

mented nocturnal sleep. Treating theseunderlying sleep disorders often cor-rects secondary problems of excessivedaytime sleepiness and its associatedacademic and behavioural problems.

Case 1 resolved: Alan was referred to asleep psychiatrist, who suggested thediagnosis of RLS. A sleep study con-firmed the diagnosis. Alan’s stimulantmedication was withdrawn, and he wasgiven with the antiparkinsonian agentselegiline. The restlessness in his legsimproved dramatically, and he was ableto sit for extended periods and pay at-tention during class. His academic per-formance correspondingly improved.

Case 2 resolved: By sleeping excessivelyand at inappropriate times, Scott wasrecognized as having classic signs of asleep disorder. A sleep study showedthat Scott had narcolepsy. Of particularnote, he had REM-onset episodes in 3of 5 Multiple Sleep Latency Tests car-ried out the day after his overnightsleep study. A test result for the HLA-DR2 DQw1 genetic markers found inalmost all narcoleptic patients was pos-itive. Although Scott had performedpoorly at school, he was a talented me-chanic. An intelligence test was con-ducted, and Scott displayed an IQ in ex-cess of 120. On reflection he admittedthat he had “slept through school.” Hisjob loading and unloading vans al-lowed him to sleep in the truck en routeto each delivery. Treatment of his nar-colepsy with methylphenidate and sub-sequently modafinil relieved Scott’s

CMAJ • February 28, 2006 • 174(5) | 618

Practice

Box 2: Elements of a detailed pediatric sleep history

• Current problem (timing, aggravating or relieving factors)

• Sleep pattern (evening activities, bedtime routines, timing of bedtime, time offalling asleep, nocturnal awakenings and parental response, snoring)

• Sleep environment (shared room, noise or light in room)

• Morning awakening (timing, spontaneity, mood)

• Naps (timing, quality)

• Daytime function (school, work, social; motor vehicle accidents)

• School and developmental history, medical conditions (growth problems,obesity, enuresis, gastroesophageal reflux, tonsillitis or pharyngitis, mouthbreathing, otolaryngologic history [e.g., retro-micrognathia])

• Medications used (sleep aids, sedatives, stimulants, caffeine)

• Family history of sleep problems (parasomnias, sleep apnea, restless legssyndrome, periodic limb movements in sleep, narcolepsy, circadian rhythmdisorders)

• Behavioural or psychological problems

• Social environment (family structure and function, stressors)

Box 3: Definitions of 2 sleep-relateddisorders

Restless legs syndrome

• Patients often experienceuncomfortable leg sensations atthe end of the day or during sleepwith a corresponding need tomove the legs to help relieve thesensation.

Obstructive sleep apnea syndrome

• Patients experience recurrentepisodes of partial or completeupper airway obstruction (oftencausing snoring and apneicepisodes) terminated by anarousal.

Page 3: Practice - Canadian Medical Association Journal · 2006. 2. 15. · structive sleep apnea syndrome (OSAS) (Box 3) are 2 sleep-related problems that can lead to behavioural symptoms

daytime somnolence problems. Hejoined an adult education program andeventually learned to read and writeproperly for the first time.

Johanna C. GollColin M. ShapiroDepartment of Psychiatry and Youthdale Child and Adolescent Sleep Clinic

University of TorontoUniversity Health NetworkToronto Western HospitalToronto, Ont.

REFERENCES1. Roberts RE, Roberts CR, Chen IG. Impact of in-

somnia on future functioning of adolescents. J Psy-chosom Res 2002;53:561-9.

2. Blunden S. Lushington K, Lorenzen B, Ooi T, FungF, Kennedy D. Are sleep problems under-recognizedin general practice? Arch Dis Child 2004;89:708-12.

3. Chervin RD, Archbold KH, Dillon JE, et al. Inatten-tion, hyperactivity, and symptoms of sleep-disor-dered breathing. Pediatrics 2002;109:449-56.

CMAJ • February 28, 2006 • 174(5) | 619

Practice

This article has been peer reviewed.

Acknowledgements: We thank Dr. Inna Volohfor her assistance.

Competing interests: None declared.

ADDITIONAL READING• Shapiro CM, Ohayon MM, Huterer N, et al. Fight-

ing fatigue and sleepiness. Toronto: Joli Joco Publi-cations;2005

• Schapira AH. Restless legs syndrome: an updateon treatment options. Drugs 2004;64:149-58

• Chervin RD, Archbold KH, Dillon JE, et al. Associ-ations between symptoms of inattention, hyperac-tivity, restless legs, and periodic leg movements.Sleep 2002b;25:213-8

• Montgomery-Dorrns HE, Jones VF, Molfese VJ, etal. Snoring in preschoolers: associations withsleepiness, ethnicity and learning. Clin Pediatr(Phila) 2003;42:719-26

• Martinez-Salcedo E, Lloret-Sempere T, Garcia-Navarro M, et al. Narcolepsy in children. Rev Neu-rol 2001;33:1049-53

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end-of-life careWhat matters most?

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