Diagnosis of Disorders

Dr Kirstie Anderson Regional Sleep Service Newcastle UK www.neurone.org/sleep-resources Your job description? 1. Psychiatrist 2. Neurologist 3. Neuroscientist 4. Psychologist 5. Other

The anatomy of sleep – of the brain, by the brain and for the brain

• Hours – homeostatic drive to • Clocks – intrinsic circadian sleep that builds for every rhythm, we are hard wired to hour awake light – retinohypothalamic tract to SCN How bright is the light you are in now?

1. 10 Lux 2. 500 Lux 3. 1000 Lux 4. 10,000 Lux 5. 100,000 Lux

The physiology of sleep The things that go wrong with sleep stories how to take a sleep history • Do you snore heavily – obstructive sleep apnoea • Do you need to move your legs in at night – restless legs • What drugs are taken and when (including caffeine/nicotine/alcohol) • A typical 24 hour day – shift work, sleep restriction • Daytime napping ? (fatigue versus sleepiness) • – witness description, ? childhood, ? time of night • Epworth sleepiness score >10 sleepy, >15 very sleepy, 0-1 . The cause of sleepiness ?

• 42 year old lawyer with 2 year history of daytime sleepiness, epworth sleepiness score 14 • Slim (BMI 24) without history of or restless legs. No sedative medications • Some recall What would be the best test to start with? 1. MRI brain scan and EEG 2. Cerebrospinal fluid hypocretin 3. In-patient and multiple sleep latency tests 4. Two weeks of wrist actigraphy 5. Sleep diaries

The cause of sleepiness ?

• 42 year old lawyer with 2 year history of daytime sleepiness, epworth sleepiness score 14 • Slim (BMI24) without history of snoring or restless legs. No sedative medications • Some dream recall • “take me through your 24 hours” – typically week days bed after midnight, up between 5 and 6 for gym” • Sleep diaries – average total sleep time 4.8 hours weekdays with most daytime fridays and weekends – SLEEP RESTRICTION Causes of

1. Too little sleep – count the hours - 30% adults in the western world have some sleep restriction 2. Poor quality sleep – obstructive sleep apnoea, restless legs syndrome 3. A sleepy brain – sedating medication, , 4. Circadian rhythm disorder – shift work >40yrs, delayed sleep phase syndrome <25 years Obstructive sleep apnoea • 10% of men and 5% of women over • Clues for those who sleep alone 40 – Neck cirumference > 17inches • Home respiratory for – , insomnia (25%) diagnosis – dry mouth, sore throat, choking • High risk populations – unrefreshing night sleep – Alcohol – Metabolic syndrome – Psychotropic / sedative medication – 20% of those with severe mental health problems The cause of sleepiness? • 26 yr old female • Very sleepy since age 14 (ESS 21) and never learnt to drive • Fragmented night sleep, vivid dream recall, occasionally had dream enactment • On direct questioning – odd episodes of knees buckling or face feeling loose with head and jaw drop when laughing with friends Which of the following statements is correct 1. MRI brain and EEG can be used to diagnose narcolepsy 2. Overnight respiratory sleep study should always be performed first 3. In-patient polysomnography and multiple sleep latency tests are the only test that can be used to diagnose narcolepsy 4. Undetectable cerebrospinal fluid hypocretin levels can be sufficient to diagnose narcolepsy with a typical clinical history 5. Haplotyping and screening for the HLA DQB*0602 is needed for all patient and is a diagnostic test

Narcolepsy • “seized by ” – first described 1880 by Gelineau • A sleep switch disorder • Young onset for most (mean age onset 14). 0.1% population but mean of 10 years to diagnosis • Brief, refreshing naps for many and a broken night • Hypnagogic can lead to referral to psychiatry, is common • 1/3 don't have • They are VERY sleepy • “Tell me when you last fell asleep” Narcolepsy A restless night • 54 year old man with daytime sleepiness, ESS19

• BMI 33 and did snore so referred as possible sleep apnoea but….. Restless legs syndrome • 5% of the population • Current diagnostic criteria emphasise episodic and chronic symptoms • Most present > 40, 50% have a family history • Common associations are with iron deficiency, pregnancy, medication, dialysis, diabetes, high dose nicotine/caffeine/alcohol

• The most sensitive diagnostic test - ask the patient! • Video polysomnography diagnoses periodic limb movements • Much night to night variability so home foot actigraphy may be a better test Acting out • 62 yr old male

• “shouting out at night” 10 year history of occasional vocalisations +/- limb movement. Getting worse. • 2 months ago kicked his wife and one month ago tried to strangle her. Otherwise well with refreshing sleep • Recurrent violent dreams including escape from prison, being chased by guards Which of the following statements are correct 1. The symptoms are most compatible with post traumatic stress disorder 2. The symptoms are most likely to be a nocturnal 3. The diagnosis can be made on the basis of the history alone 4. This clinical history strongly predicts a future neurodegenerative problem

Acting out dreams • 62 yr old male • REM sleep behaviour disorder – loss of the normal REM atonia • “shouting out at night” 10 year seen on polysomnography history of occasional vocalisations +/- limb movement. Getting • 80% will develop a parkinsonian worse. neurodegeneration at 15years • 2 months ago kicked his wife and one month ago tried to strangle her. Otherwise well with refreshing sleep • Recurrent violent dreams including escape from prison, being chased by guards Diagnosis of parasomnia • NREM Parasomnia first hour, first half of the night, complex motor actions, little or no recall, out of . Hard to wake, last several minutes. Most have childhood or young adult onset

• REM Parasomnia rare first hour, usually second half of night, violent brief movements, dream recall. Easy to wake. Older. Polysomnography part of diagnostic criteria

• Nocturnal Younger groups, can have recall, brief violent but stereotyped dystonic posturing, often sleepy, multiple times per night. A broken clock – Circadian Rhythm Disorder

• Diagnosis made by history, sleep • 6 Distinct circadian rhythm disorders – Delayed sleep phase syndrome <25yrs diaries +/- actigraphy – Advanced sleep phase syndrome – Shift work disorder >40yrs – syndrome • Key features in the history – Irregular sleep wake disorder – Quality of sleep often – Non 24 hour pattern remains good – “if you could sleep when you want to – would you sleep well?” – “Take me through your 24 hours” Case history • As patient is drifting off to sleep – a sound loud noise and flash of light that causes a physical jolt – distressing, sits up, heart racing • The happens three further times before consultation What is the patient describing and what should you do 1. Possible brain aneurysm- refer for urgent vascular brain imaging 2. An auditory phenomenon – MRI brain and EEG 3. Psychogenic symptoms – refer to psychiatry 4. Exploding head syndrome – direct them to Wikipedia (or any online encyclopaedia of your choice)

Insomnia disorder • The commonest 5- • Red flags – what is not “just 10%, F>M insomnia” • 50% comorbid with anxiety / • Beware daytime sleepiness – this depression or other medical should be a hypervigilant problems phenotype. Older patients • Diagnosis typically made on commonly have comorbid sleep history alone with exclusion of apnoea, thinner and atypical Hx secondary causes • Difficulty initiating and • The three R’s maintaining sleep with – Restless legs syndrome (at least 10%) subsequent daytime dysfunction – Reflux and >3 nights a week for > 3 – Rhythm – ? delayed sleep phase in months those< 25 Which of the following tests are useful for severe insomnia 1. Monitoring sleep with a gadget (fitbit/jawbone etc) 2. Polysomnography 3. Wrist actigraphy 4. Screening questionnaires for depression 5. Pen and paper sleep diaries for 2 weeks

Insomnia Disorder – sleep diaries How much time does the average medical student spend learning about sleep disorders (UK/US) 1. 2 minutes 2. 2 hours 3. 10 hours 4. 20 hours

Diagnosis of sleep disorders - summary

• Take a sleep history in all your patients • The commonest cause of sleepiness in those > 40 is sleep apnoea • Ask everyone about restless legs • Review the prescription – sedatives / stimulants, timing and dose of caffeine/nicotine/alcohol • Simple sleep questionnaires and sleep diaries – underused but effective for diagnosis of insomnia and circadian rhythm disorder • Parasomnia – in the young look for triggers (and wear pyjamas!), in the elderly think about an associated parkinsonian disorder