Pediatric Sleep-Disordered Breathing: More than OSA

Transcription

1 Pediatric Sleep-Disordered Breathing: More than OSA Carolyn M. D Ambrosio Associate Professor of Medicine Harvard Medical School Brigham and Women s Hospital Boston, MA

2 Disclosures 1. Section Editor, Dynamed, Sleep Medicine 2. Patent co-owner, circadian rhythm programmable device 3. Advisor, Advanced ICU Care

3 Obstructive sleep-disordered breathing with an AHI = 0

4 18 mo with achondroplasia including mid-facial hypoplasia, constricted foramen magnum, and decreased thoracic volume

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6 Achrondroplasia Autosomal Dominant 1:10,000 Risk Factors Midfacial Hypoplasia Short Cranial Base Pulmonary Restriction Brainstem Compression Sleep-Disordered Breathing OSA CSA Hypoventilation ***Hypoxemia***

7 Acondroplasia: Foramen Magnum Stenosis Symptoms Weakness/Pain/Parasthesia Swallowing dysfunction Incontinence Hydrocephalus Usually Not CSA Surgical decompression Does not affect CSA White et al, AM J Med Gen 2015 PSGNOT a screening tool for symptomatic Foramen Magnum Stenosis.

8 Another case of obstruction with AHI=0 12 yr old girl with obesity, abnormal breathing pattern witnessed by parents, no snoring.

9 What is the breathing abnormality? Katz et al, Sleep Apnea, NHLBI, 2011

10 16 yo female Thin with ATH Father with OSA Slept thru a firealarm AHI 0.5/hr, Normal Oxygen EEG Arousal index >11/hr 60 secs

11 2 week-old born at 37 weeks gestation referred for irregular breathing and prolonged breath-holding

12 What is this?

13 This is another infant, what is the abnormality? 30 secs

14 Periodic Breathing: Definition Oxygen Saturation Impedance Series of 3 central apneas of > 3 second duration separated by < 20 seconds of normal breathing

15 Periodic Breathing: Epidemiology months Present in % of 1 week-old Term Infants 95% Upper Limits Term 5 10% at 1 month with Prematurity but not SIDS, HIE Pathophysiology 2% at 3 months Preterm 15 20% at 1 month 5 10% at 3 Apneic CO2 threshold is 1 torr below Eupneic CO2 Khan et al, JAP: 2005; 98:1171-

16 Periodic Breathing: Influence of Oxygen Apnea Index Periodic Breathing RA Oxygen RA Oxygen Subjects: GA 30 weeks, PCA 38 weeks Simakajornboon et al, Peds 2002; 110:884-

17 Another infant, wakes up frequently 90 secs

18 Bradycardia: GERD Marcus et al, J Peds 1999; 135:321-

19 Brainstem abnormalities Joubert CCHS RETT Tumors Chiari

20 molar tooth midbrain Joubert Kumandas et al, Eur J Neuro 2004; 11: 505- Autosomal recessive Hypotonia,developmental delay, tachypnea/apnea Breathing abnormalities occur early in life and may improve over time Cerebellar Hypoplasia

21 5 year-old Joubert 120 secs Frequent prolonged central pauses

22 5 year-old Joubert 120 secs Hyperpnea followed by a central apnea

23 5 year-old Joubert 120 secs Periodic breathing with bradypnea/hyperpnea

24 5 year-old Joubert 120 secs Bradypnea

25 5 year-old Joubert 120 secs Grouped central apneas

26 Congenital central hypoventilation syndrome (CCHS) Rare autosomal dominant (PHOX2B) Integration of CO2 by Medullary chemoreceptors Dx: Newborn >> Childhood >> Adults No primary lung, cardiac, or neuro dz 2/3 require ventilator only during sleep Autonomic Dysfunction

27 CCHS REM NREM P ET CO Wake REM Hypoventilation worse in NREM sleep in CCHS

28 Term 2 week-old Cyanotic/Apnea episodes Normal Brain/CXR CO 2 = 110 torr Treated with BiPAP 7 Hours Feed BiPAP Feed Marked, Rapid desaturation during feed and especially with transition to sleep

29 Term 2 week-old CCHS (20/25 Mutation) 60 secs Shallow breathing, obstructions without labored breathing

30 RETT syndrome Gene MECP2 on X chromosome Females 1:10,000 Developmental regression 6 18 months Features Severe retardation Dystonia Circadian disturbance Respiratory dysrhythmias after 2 yo High incidence of sudden death Dysautonomia Seizures Aspiration Interstitial Lung Disease(?)

31 RETT: Central Apnea Inspiratory Breath Hold Tachypnea 41 Seconds Marcus et al, J Peds 1994; 125: 218-

32 RETT: Grouped Central Apneas

33 Chiari Malformations Herniations of Cerebellum or brainstem through Foramen magnum My present at any age 1:1000 Symptoms Headache Neck pain Ataxia Oculomotor CSA OSA Early surgical Tx may be helpful Recurrences are common BiPAP/Oxygen for Residual CSA Van den Broek, Eu J Paed Neur 2009

34 Chiari Malformations Herniations of Cerebellum or brainstem through Foramen magnum May present at any age 1:1000 Symptoms Ataxia Headache, Neck pain, CSA 24 68% OSA Poor correlation between herniation severity and PSG Early surgical Tx may be helpful Recurrences are common BiPAP/Oxygen for Residual CSA Van den Broek, Eu J Paed Neur 2009 Alsaadi et al, Peds Int 2012: 54: 623-

35 Periodic Breathing (Chiari) Abel et al, BMJ 2012; 344: e3022-

36 7 yo female Chiari 120 secs

37 2 yo, many >20 sec CA, marked desats Brainstem Compression: Irregularly irregular 120 Seconds

38 17 yo. Hypoxemia, bradypniec. Given narcotics before sleep and periodically overnight

39 Sleep Onset Hypoventilation 100% - S p O 2 60 Torr - CO 2 P ET CO 2

40 Narcotic-induced CSA Seen in >30% on chronic opioids Often c/o EDS Both OSA and CSA CSA often in REM sleep Ainslie et al, Resp Phys Neurobiol 2013; 188: 233-

41 Unusual Patterns Respiratory flutter Rebreathing VNS Muscle weakness Behavioral hyperventilation

42 Respiratory Flutter Katz et al, AJRCCM 2001; 164:1161-

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44 Why is this patient hypercapnic? Carol Rosen, MD

45 Vagal Nerve Stimulator (VPN) Causing hypopnea VNS

46 Myelomeningocele: Age 11 yrs SpO PETCO 2 Stage Wake REM Scoliosis, obesity, respiratory muscle weakness

47 Myelomeningocele: Age 13 yrs SpO 2 PETCO 2 Stage Wake REM Scoliosis, obesity, respiratory muscle weakness

48 Behavioral Hyperventilation 5 minute Johnston et al, JCSM 2015; 11:487-9 yo, No PMHx, 2 CA s at sleep onset 32 & 51 seconds. A PetCO2 few prolonged 20 torr after respiratory hyperventilation. pauses are ph commonly 7.48/PCO2 observed 25/ HCO3- in 13. infants Brain MRI and normal. children. Dx: Oxygen Anxiety desaturations & Rx Clonazepam are rare after infancy.

49 Behavioral Hyperventilation 5 minute Johnston et al, JCSM 2015; 11: yo, many CA s at sleep onset up to 79 seconds. PetCO2 22 torr after hyperventilation associated with anxiety. Brain MRI normal. Dx: Anxiety

50 Summary 1.Many causes of sleep-disordered breathing in children 2.Children with syndromes, particularly Down s, Joubert, Achondroplasia, Prader- Willi, etc are at very high risk 3.Remember opiates as a main cause of central apneas.