Intro

1. ENT Updates for the General Pediatric OfficeR. Christopher Miyamoto, M.D., FACS, FAAPPediatric OtolaryngologyPeyton Manning Children’s Hospital at St. Vincent’s

2. Intro • Provide update on interesting ENT developments for primary care Pediatric offices • Excellent New Text/Resource: • Pediatric Otolaryngology, Schoem SR, Darrow DH ed. AAP 2012 • Disclosure: I have no financial interest/relationships with any biomedical companies, etc.

3. Congenital Hearing Losssignificance: • Hearing impairment one of the most common sensory deficits in children & significant healthcare problem • 1 - 2 infants per 1000 births have significant hearing loss [HL] • Bilateral severe-profound • Up to 4/1000 births if mild-moderate or unilateral HL included [compare to signif congenital heart disease 4/1000, cleft lip 1/1000, cleft palate 1/2500] • Steel KP Science 1998;279:1870-71 • = 40,000 infants born/year w/ significant HL; • = 4000 profoundly deaf

4. Developments • 1) Universal Newborn Hearing Screening • Healthcare providers must now screen & manage HL in infants— substantial pt population— Goal 1 mos • Joint Committee on Infant Hearing and AAP:endorsed UNHS revised guidelines 2000, Position update 2007 • Confirm HL by 3 mos • Logistical issues: • Otolaryngology referral – time • Ability of otolaryngologist to confirm: • Middle ear fluid, audiological capabilities [OAE, ABR] • Intraoperative vs office sedation ABR capabilities • Intervention by 6 mos • Increased receptive/expressive language quotients • EHDI / ISDH Physician tool kit

5. 2) Molecular/genetic understanding of hereditary hearing loss vastly enhanced over last 10 years Genetic testing now integral for evaluation of hearing impairment in children Expertise of Medical Genetic specialists invaluable 3) Early intervention [medical vs surgical] now standard of care Developments

6. Importance? • Significance: • COST EFFECTIVE, POSITIVE QUALITY OUTCOME • Early hearing diagnosis= early intervention at 6mos or earlier • = better speech/language development, school performance, economic outcome • = early identification of profound hearing loss requiring cochlear implantation • NEJM 2008---Cochlear implantation one of few truly cost effective interventions • 2

7. Hearing Screening • Per UNHS, must occur prior to d/c • Automated auditory brainstem response [ABR] preferred • +/- otoacoustic emissions [OAE] • OAE alone can miss auditory neuropathy • Failure [PC = “refer”] requires diagnostic audiology eval as outpt • = ABR, tympanograms, OAE

8. Hearing Loss Breakdown • Historically, infectious disorders [TORCH, meningitis], teratogens, ototoxic meds were primary causes of congenital & acquired HL • Vaccines, abx, awareness of teratogens changed ddx • Hereditary causes account for 50% childhood deafness • Morton NE Ann NY Acad Sci 1991;630:16-31 • Over 150 loci [areas on genes] identified • 70% hereditary hearing loss nonsyndromic • 75% of this autosomal recessive • Important for evaluation process • Autosomal recessive hearing loss locus DFNB1 found on Chromosome 13q—contains GJB2 gene • Mutations in GJB2 responsible for up to 50% severe-profound SNHL in autosomal recessive nonsyndromic HL in US & Europe

9. Hearing Loss Breakdown • The Rest: • 50% hearing loss NOT inherited • Acquired—ototoxics, risk factors, others • May have Genetic comp making susceptible • 30% Syndromic • 823 syndromes linked to hearing loss • 150 gene loci linked to hearing loss • Importance of Medical Genetics Evaluation • JCIH 2007 statement guidelines

10. GJB2 • Gene in DFNB1 locus on chromosome 13 • GJB2 gene codes for connexin 26 protein • Membrane proteins that form gap junctions • Seem important in electrolyte, second messenger and metabolite exchange in cochlea • Multiple mutations [60+ and counting] described • 35delG mutation especially common [15-40%] [white/European descent, some Hispanic, Asian, african-american]—Connexin 26 • Many other genes involved with congenital hearing loss– can screen with Chip technology 17-19 gene mutations screened

11. Hereditary Syndromic Hearing Loss • Most are congenital and some acquired • 400 - 800+ syndromes associated w/HL • Cause of HL: sensorineural, conductive, mixed • Craniofacial & other features associated • Findings may be subtle • Medical genetics evaluation helpful with subtle phenotypes

12. Nonhereditary Congenital Hearing Loss • TORCH: • Toxoplasmosis, Rubella, CMV, Herpes • Syphilis • CMV: most frequent cause nonhereditary HL in neonates • 40,000 CMV infected infants/yr; 4000 HL • 8-10% CMV-infected infants asx at birth can develop HL---need long-term f/u • Cytomegalovirus [CMV]: 0.5 -2% live births • Congenital CMV infection: • 10% Symptomatic: 44% have HL by age 3yrs • 21%are delayed onset • 90% Asymptomatic: 7.4% have HL by 3yrs • 33% delayed onset • 50% of both groups w/progressive loss

13. Evaluation of Hearing Loss in Infants & Young Children • Thorough History/physical exam • Directed toward issues discussed earlier • Syndromic features—refer to Med Genetics • Prenatal, perinatal,postnatal events • AAP JCIH 2007 Risk Indicators (congenital, delayed onset or progressive hearing loss • Prematurity • Teratogens • Perinatal maternal infections: TORCH • Low birth wgt <1500 g • Prolonged mechanical ventilation, hyperbilirubinemia, hypoxia

14. Evaluation of Hearing Loss in Infants & Young Children • Prenatal, perinatal,postnatal events • NICU graduates • Persistent pulmonary hypertension of the newborn • Extracorporeal membrane oxygenation [ECMO]: [diaphragmatic hernia, heart disease, etc] • 20-25% with late-onset or progressive HL • = ABR at 6mos, audiogram 1 yr and annual x3yrs

15. Evaluation of Hearing Loss in Infants & Young Children • Infections—neonatal meningitis • Syncope [fainting]—Jervell & Lange-Nielsen • Family members with syncopal or sudden cardiac death in teens, early adult years • Delayed walking/visual issues—Usher • Family history

16. Evaluation of Hearing Loss in Infants & Young Children • Physical Exam: • Check for craniofacial issues, subtle ear deformities • Check for ocular abnormalities: coloboma, hypertelorism, other abnormalities • Up to 50% severe-profound hearing impaired kids have eye issues • Armitage IM et al. Arch of Dis Childhood 1995;73(1);53 • Pediatric Ophthalmology evaluation for all hearing impaired children recommended • JCIH 2007 statement

17. Evaluation of Hearing Loss in Infants & Young Children • Confirm with OAE / ABR • OAE alone can miss auditory neuropathy • If bilateral SNHL and diagnosis not apparent [identifiable syndrome, meningitis, autosomal dominant SNHL,trauma] genetic testing for hearing loss/genetic evaluation

18. Auditory Neuropathy • Pathophysiology • Hair cell death? • Hypoxia • Temporal bone studies • Genetics: Otoferlin gene

19. Cochlear Implantation • Currently the standard surgical treatment for patients with hearing impairment & well-fit hearing aids that fail to permit effective oral communication • Designed to help the severe-profoundly deaf patient • Perceive environmental sounds • Understand speech • Maximal benefit depends on patient and rehab

20. How it works: neural stimulation • Implant with electrode array placed surgically in the lumen of the cochlea • Scala tympani • near spiral ganglion cell bodies/auditory nerve

21. How it works: neural stimulation • External microphone picks up speech signals • Signal processor transforms into digital impulses • Radio-frequency carrier transmits percutaneously to internal receiver-stimulator and electrode array • auditory nerve/cortex stimulated; perception of digitally processed info as speech

22. Current status • Technology reliable, sophisticated, tested over 20 years clinical use • 200,000 + implants worked wide, ½ adult, ½ pediatric • 1 million potential U.S. candidates • 3 companies manufacture: Cochlear, Med-EL, Advanced Bionics • Outcomes similar among models • No single method for predicting better results among devices—differ in processing strategies, slight technical/ surgical variations

23. Current status • Chief predictor of success = a short duration of hearing loss • Children: earlier implantation best • Narrow window of opportunity for speech/language first 2 years life; best 18mos & under • Adults: chronologic age itself not a factor • Requires detailed fitting, rehabilitation, practice • Special education in children without language • Auditory/speech rehab the key element of success

24. Selection criteria: pediatrics • FDA minimum age recommendation = 12 mos • CI at younger age may be advantageous • Audiometric Pure Tone Averages [PTA]: • 12- 18 mos: Profound loss >/=90 dbHL • 18 mos and up: severe-profound loss 70-90 dbHL • Speech Perception testing for infants [<24 mos] • Lack of auditory progress measured on IT-MAIS [best aided condition] • No benefit/lack of progress with conventional amplification • Psychologically appropriate: no significant mental/neuro disability* • Enrollment in educational program emphasizing auditory development • Motivation to complete rehab

25. Selection criteria: pediatrics • Older children--2 years-18 years: • Severe-profound loss both ears • Lack of progress with HA= • 25 mos-4yrs,11 mos: Multisyllabic Lexical Neighborhood Test [MLNT] <30% in better-aided ear • 5 yrs – 17 yrs,11 mos: Lexical Neighborhood Test [LNT] <30% • Other tests to evaluate: MAIS, HINT, WIPI • High motivation, no medical contraindications • Enrollment in educational program emphasizing auditory development • Careful selection of pts ESSENTIAL • Do not want to implant pt who will do better with Hearing aid

26. Contraindications for implantation • Completely atretic VIII nerve • Small internal auditory canal syndrome • Agenesis of cochlea: Michel deformity • Active middle ear/mastoid infection • Tympanic membrane perforation • Severe organic brain dysfunction • Severe mental retardation • Psychosis, unrealistic expectations

27. Minimum expected benefits • Awareness of environment [warnings, others talking] • Detection [not understanding] of sound in speech range • Awareness of music • Improved speech reading ability with practice • Awareness of own voice (ability to monitor intensity and speech production) • Potential for improvement in speech intelligibility (based on pt and therapy) • Potential for telephone use (dependent on speech intelligibility)

28. Team approach for implantation • Physician/Surgeon: • Medical evaluation of candidates • Responsible for all surgical care & complications • Audiologists, speech-language pathologists, psychologists • Vital/Key role in evaluation of candidacy • Key for rehabilitation, learning use of device • Education, implant maintenance

29. Cochlear Implants in Infants • Universal Newborn Hearing Screening • Technological advances in CI systems • Language delay • Surgical feasibility: • Pediatric Otolaryngology and Neurotologists: experienced with infants 1 to 12 mos of age in children’s hospitals [pediatric anesthesiologists] • routine airway interventions for premature and term infants • Sublgottic /tracheal stenosis surgery • Choanal atresia surgery • Congenital masses of neck, vascular tumors • Surgeon: PMD referral, family preference

30. Complications • Skin Flap breakdown • Facial nerve stimulation • Facial nerve injury/paralysis • CSF leak/gusher • Device failure : 3-6%, • Infection: otitis media, mastoiditis, implant pocket • Meningitis: • 26 out of 4264 U.S. pediatric implants = 0.6 % • Reefhuis J et al. NEJM 2003;349:435-45. • 2 deaths • Many cases occurred in pts with cochlear malformation • Most cases involved device with spacer • Current protocol = pneumococcal & H. influenza vaccination • Hib, Prevnar, Pneumovax

31. Complications • Anesthesia: pertinent for all ENT operations • Current anesthesia fatality rate 1:250,000 for healthy individuals >1yr • For perspective: activities with same risk of death as anesthesia: • 40 hours automobile driving [2,000 miles] • 40 hrs bicycle riding • 24 hrs commercial airline flying • 7 hrs downhill skiing; 30 minutes rock climbing • 340 trips in passenger elevator

32. Emerging Issues • Earlier implantation: prior to 1year • Bilateral implantation • Why? • Psychoacoustic literature • Diminished function with only unilateral aiding of bilateral HL • Improvement in speech intelligibility • 3 binaural mechanisms • Head shadow effect, Binaural squelch, Summation • Sound localization, listening in noisy environment • Adult studies support, growing peds literature • Sequential vs simultaneous implantation • Risk/benefit ratio; insurance approval • Possible future alternative TX in future: stem cell,new implants---save one cochlea?

33. CI Outcomes in Children: Key Findings • Large individual differences; each child unique • No preimplant predictors of outcome • Abilities emerge after implantation • Nature of early experience— • Earlier implantation= better CI performance, better auditory/verbal communication • Implant must be worn every day, all day • Environment with robust auditory input necessary for maximal CI results

34. CI Outcomes in Children: Language • Children with CIs Outperform their Profoundly Deaf Peers Who Use Hearing Aids • Faster rates of language learning and higher overall language achievement levelsin CI pts vs unimplanted Deaf children • Literacy: Tomblin& Geers • reading levels CI pts approaches hearing peers • 15 yr Deaf ASL students: reading comprehension = 3rd grade; • Some CI pts do not do as well [IQ, Oral commun, language skills] • Children Using both Oral and Total Communication Improve in their Language Skills After CI; but as a group Oral Communication Users Outperform Those TC • Many variables to further examine • Ref: Oto Clin N America: Feb 2012 Robbins A, Niparko J

35. Otitis Media • AAP 2004 AOM guidelines • AAO 2004 OME guidelines • Cochrane reviews: OME, BMT, adenoidectomy • Evidence-based medicine vs evidence based common sense • Smith and Pell BMJ 2003: Parachute use to prevent death and major trauma related to gravitational challenge • AHRQ 2012: comparative effectiveness reviews for OME--pending

36. Nose and Sinus • Chronic sinusitis: • Role of adenoidectomy, +/- maxillary irrigations • Role of balloon sinuplasty: evidence based medicine support pending • Useful tool for frontal sinus disease in our practice • Useful for maxillary • New hammer—many looking for uses • Time will tell

37. Nose and Sinus • Image Gently campaign selected imaging of sinus disease • In era of easy antibiotic availability, still mindful of sinusitis complications • :

38. Adenotonsillar Disease/OSA • 2011 American Academy of Otolaryngology-HNS adenotonsillectomy clinical guideline • Chronic tonsillitis: 7 per 1 yr, 5x2 yr, 3x3 yrs • OSA sx, +/- PSG • Admission >3yrs • PFAPA • Recall prior data: recurrent tonsillitis in children: 80% resolution in 1 year

39. Adenotonsillar Disease/OSA • 2011 American Academy of Otolaryngology-HNS CPG: PSG for sleep-disordered breathing prior to tonsillectomy in children • for complex medical conditions preop • Discordance between tonsil size & SDB sx • Admit postop if <3yrs or severe OSA • AHI>10, sats< 80% • Laboratory based PSG rather than home PSG

40. Adenotonsillar Disease/OSA • AAP 2012 : CPG Diagnosis/management of Obstructive sleep apnea syndrome [OSAS] • 1) all children screened for snoring • 2) PSG for snoring, OSAS • 3) T&A primary treatment • 4) high risk pts monitored inpt postop • AHI>24, sat>80%, PCO2>60 • 5) intranasal steroids: indications • 6) CPAP postop or if T&A not performed

41. Adenotonsillar Disease/OSA • Multiple publications on neurocognitive effects • School aged children—even with negative PSG • ADHD behavior • Decreased cognition • IQ testing changes Beebe DW: Persistent snoring in preschool children, Pediatrics sept 2012: --ages 2-3 yrs Cincinnati • large prospective birth cohort study n=249 2 to 3 yrs old • Persistent loud snoring occurs 9% children • = significantly higher behavior problems • Hyperactivity, depression, inattentions, • Worse cognitive development

42. Adenotonsillar Disease/OSA • Childhood Adenotonsillectomy Study [CHAT] 2012: • First prospective, randomized controlled study, multicenter evaluated effectiveness of T&A or watchful waiting for OSA • 464 children, 5-9yrs with PSG proven mild-moderate OSA randomized • Publication forthcoming • PSG results, neurocognitive testing improves • Observation arm: may also show improvement

43. Hemangiomas/Vascular malformations • Propranolol: • Significant improvement in our care for hemangiomas of airway, head/neck • Sclerotherapy vascular malformations

44. Neck Mass vs Lymph node vs Cancer? • Midline vs Lateral Neck Mass • Evaluation • History • Growth 4-6 wks,+sx • Abx no effect • Cat, TB exposure • Constitutional / Lymphoma symptoms • Ultrasound helpful

45. Neck Mass vs Lymph node vs Cancer? • Midline DDX • Thyroglossal duct cyst • Dermoid cyst • Thyroid and Parathyroid masses • Vascular lesions/hemangioma • Laryngoceles

46. Neck Mass vs Lymph node vs Cancer? • Lateral Neck Masses: • Acute adenitis • Chronic adenitis • Atypical mycobacterial • Cat-Scratch • Toxoplasmosis • HIV • Congenital • Branchial Cleft • Pseudotumor infancy, • Thymus, • Vascular/Lymphatic • Malignant Lateral Neck Masses; • Lymphoma • Sarcoma • Neuroblastoma • Salivary gland

47. Neck Mass vs Lymph node vs Cancer? • Inflammatory syndromes • Persistent, enlarging chronic adenopathy • Odd/usually rare -history, exam give clues Sarcoidosis Kawasaki Castleman’s disease, JRA, SLE, Rosai-Dorfman disease/histiocytosis

48. Ankyloglossia • To release or not to release? • Feeding/latching to breast/bottle • Can release in office or nursery 1st weeks life • Studies support • Speech /articulation difficulties later • Weigh vs anesthetic risks