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
Disclosures 1. Section Editor, Dynamed, Sleep Medicine 2. Patent co-owner, circadian rhythm programmable device 3. Advisor, Advanced ICU Care
Obstructive sleep-disordered breathing with an AHI = 0
18 mo with achondroplasia including mid-facial hypoplasia, constricted foramen magnum, and decreased thoracic volume
Achrondroplasia Autosomal Dominant 1:10,000 Risk Factors Midfacial Hypoplasia Short Cranial Base Pulmonary Restriction Brainstem Compression Sleep-Disordered Breathing OSA CSA Hypoventilation ***Hypoxemia***
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.
Another case of obstruction with AHI=0 12 yr old girl with obesity, abnormal breathing pattern witnessed by parents, no snoring.
What is the breathing abnormality? Katz et al, Sleep Apnea, NHLBI, 2011
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
2 week-old born at 37 weeks gestation referred for irregular breathing and prolonged breath-holding
What is this?
This is another infant, what is the abnormality? 30 secs
Periodic Breathing: Definition Oxygen Saturation Impedance Series of 3 central apneas of > 3 second duration separated by < 20 seconds of normal breathing
Periodic Breathing: Epidemiology months Present in 80-100% 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-
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-
Another infant, wakes up frequently 90 secs
Bradycardia: GERD Marcus et al, J Peds 1999; 135:321-
Brainstem abnormalities Joubert CCHS RETT Tumors Chiari
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
5 year-old Joubert 120 secs Frequent prolonged central pauses
5 year-old Joubert 120 secs Hyperpnea followed by a central apnea
5 year-old Joubert 120 secs Periodic breathing with bradypnea/hyperpnea
5 year-old Joubert 120 secs Bradypnea
5 year-old Joubert 120 secs Grouped central apneas
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
CCHS REM NREM P ET CO 2 60-0 - Wake REM 2 3 4 Hypoventilation worse in NREM sleep in CCHS
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
Term 2 week-old CCHS (20/25 Mutation) 60 secs Shallow breathing, obstructions without labored breathing
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(?)
RETT: Central Apnea Inspiratory Breath Hold Tachypnea 41 Seconds Marcus et al, J Peds 1994; 125: 218-
RETT: Grouped Central Apneas
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
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-
Periodic Breathing (Chiari) Abel et al, BMJ 2012; 344: e3022-
7 yo female Chiari 120 secs
2 yo, many >20 sec CA, marked desats Brainstem Compression: Irregularly irregular 120 Seconds
17 yo. Hypoxemia, bradypniec. Given narcotics before sleep and periodically overnight
Sleep Onset Hypoventilation 100% - S p O 2 60 Torr - CO 2 P ET CO 2
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-
Unusual Patterns Respiratory flutter Rebreathing VNS Muscle weakness Behavioral hyperventilation
Respiratory Flutter Katz et al, AJRCCM 2001; 164:1161-
Why is this patient hypercapnic? Carol Rosen, MD
Vagal Nerve Stimulator (VPN) Causing hypopnea VNS
Myelomeningocele: Age 11 yrs SpO 2 50 - PETCO 2 Stage Wake REM 2 3 4 Scoliosis, obesity, respiratory muscle weakness
Myelomeningocele: Age 13 yrs SpO 2 PETCO 2 Stage Wake REM 2 3 4 Scoliosis, obesity, respiratory muscle weakness
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.
Behavioral Hyperventilation 5 minute Johnston et al, JCSM 2015; 11:487-13 yo, many CA s at sleep onset up to 79 seconds. PetCO2 22 torr after hyperventilation associated with anxiety. Brain MRI normal. Dx: Anxiety
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.