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ENTConsiderationsinDowns

Syndrome
PrasadJohnThottam,DO
PediatricOtolaryngologyFellow
ChildrensHospitalofPittsburghofUPMC

Outline

Generalinformation/definitions/considerations
Otologicmanifestations
Airwayandsleepconsiderations
Generalsurgicalandmanagementpearls

History
Identifiedasasyndromein1886byJohnLandonDown
Microgenia,macroglossia,epicanthalfolds,upslanting
palpebralfissures,shorterlimbs,singletransversepalmar
crease,poormuscletone,mentalretardationandlearning
disabilities
OriginallydescribedasMongolianidiocyuntil1961Lancet
publicationchangingnametoDownsSyndrome

Chromosomalabnormality/chromosome21trisomywas
identifiedin1959byJeromeLejeune

Genetics
Trisomy21(47chromosomes;3 chrms 21)
94%ofDowns
Riskincreaseswithmaternalage

Robertsonian translocationinvolvingchrm 21
34%ofcases
Notassociatedwithmaternalage

Trisomy21Mosaicism
12%ofcases

Epidemiology
Mostcommoncongenitalchromosomalabnormality
1of700livebirth1

Massivegainslifeexpectancyoverthepast40years
Lifeexpectancyin1983 25years2
Lifeexpectancyin2014 50to60years3
Primaryreasoning congenitalheartsurgicaladvancement2,3

>50%reportseeinganotolaryngologistregularly4

PredispositiontoENTrelated
Problems
Anatomical

Midface hypoplasia
Shortenedpalate
RelativeMacroglossia
Narrowedoropharynxandnasopharynx
Hypotonia
Paranasalsinusabnormalities

Systemic
Immunologicdeficiency
Ciliary dyskinesia

Comorbidities

Congenitalheartdisease
Pulmonaryhypertension
GERD
Subglotticstenosis
Cervicalinstability

OtologicManifestation

EACstenosis
Highincidenceofotitismedia
Highincidenceofchroniceardisease
Secondaryhearingloss
Ossicularabnormalities
Innereardysplasia

Stenotic ExternalCanals
Presentin4050%ofDSnewborns5
Generallyresolvesvianaturalprogressionandnotan
obstacleby23yearsofage5
Importantbecause:PCPexamination/infectionand
hearingmonitoring
Recommendation:Followupevery3monthsfor
microscopicevaluation5

OtitisMedia/ChronicEarDisease
Reducedimmunesystem:T&Bcellreduction;IgG4
reduction;defectiveneutrophilchemotaxis6,7
Midface hypoplasia=narrowedETandnasopharynx
Adenoidtissueencroachment
ETcartilagecollapseanddecreasedtensorveli
palatini function
Mastoidaeration
Possiblehistopathologic changesofMEmucosa

Midface Hypoplasia/Nasopharynx

TheSkullBase&NasopharynxinDSinRelationtoHearing8
28DS/33nonsyndromic:age&sexmatched
Allunderwentpneumaticotoscopy,audio,lateralxray
DSpatientsdemonstratedsmallernasopharyngealarea&less
acuteanglebetweenskullbase&hardpalate
Resultedinsofttissueencroachmentandlessacuteanglein
childrenwithDSandhearingloss

EustachianTube
CongenitalanomaliesoftheETinDS:Histopathology9
DSETsmaller,collapsedinmidcartilaginous,isthmusandpoorly
developedlateralcartilage
TemporalbonemorphometricstudyonET&assoc.structuresin
patientswithchromosomalaberrations10
Chromosomalaberrationpatientshadsmallervolumeoflateral
laminacartilage,reducedtensorveli palatini m.attachment
Chrom.aberrationpatientsreducedLLtoMLratio

Examinedpatientsundergoingtympanoplasty DS&
NonDSforhistoryofCOM
Otorrhea 60%ofDSvs 27.2%NonDS(p<0.05)
Mastoidpneumatization index
50.8mm2DSvs 291.3mm2 NonDS(p<0.05)
Nostatisticalsignificantdifferenceinmastoid
pneumatization regardlessoftubehistory

Animalmodel
Ts65Dnmice(TrisomyChrm >80%homologouswithHuman21)
comparedtowildtype
ABRs/HistologicalexamofME/BacterialCultures
Results
ABRrequiredhighermeanthresholdinTs65Dnduetoeffusions
Ts65Dnmicedemonstratedhigherdensityofgobletcells

HearingLoss
HigherprevalenceofhearinglossinDSregardlessof
CHL/Mixed/SNHL12
Estimated5090%ofDSchildrendxwithhearing
impairmentvs 49%generalpopulation12,13
Monitoringisparamountashearinglosscanbe
dismissedasnaturalcourse/intellectualimpairment

Designedasstudytoexamineneedforamplificationin
specializedschools
92DSchildrenwithmild moderateintellectual
impairmentenrolledinspecialneedschools
Perceivedhearingimpairmentasked
Otologicexam;Tympanogram;TEOAEs;PTAconducted
90%ofparticipantshadatleast>25dBHLinoneear
19.1%hadTypeBtympanogram inatleastoneear

HearingLoss
HearinglossismaskedbyvariousdelaysseeninDS
(speech;intellectual)14
Earlydetectionandassociatedmaintenancecritical
Effectofhearinglossisgreateronchildrenwith
developmentaldelaycomparedtonondelayed
(critical)14

ABR/OAEscreeningatbirth
Hearingscreeningevery6monthsuptoage3
dependingifearspecificbehavioraudiometrycanbe
establishedandisnormal
Onceearspecificaudiometryestablished testing
performedannually

Tympanostomy Tubes
Surprisinglycontroversial
Shorttermefficacyoftympanostomy tubesforsecretoryOMin
childrenwithDS15
24DSvs 21nonDS/AllwithsecretoryOMandCHL/Agematched
Audiogramperformed69wks postBMT
60%ofDSvs 91%innonDSreportedimprovement
NOTE:allpatientsovertheageof6>delayoftreatment

ProspectivestudyexaminingDS/OME/BMTovertime
Allenrolledundertheageof2with81%CHL
FollowedbyENTevery36months
TreatedwithBMTandreplacements
At2years93%hadnormalhearing
AggressivemanagementofDSOME=3.6xshigherrateof
normalhearingcomparedtoagematchednonaggressive
treatment

Agerequiringfirstsetoftubes

Tympanostomy Tubes&DS
Considerations
Relationshipofotitismediaandlanguageimpairmentin
adolescentswithDS14
ExaminedlanguagescoresinDSadolescentsnowwithnormal
hearing
KidswithhistoryoftubeshadhigherlanguagescoresthanDS
withnotubeswhohad>3knownchildhoodinfxns
Conclusion
Temporaryhearinglossmayplayroleinlanguagedeficits
Hearinglosseffectscanbepresentlongafterdiseasecourse

FactsforparentstubesinDS

TubesmaybeplacedearlyinchildrenwithDS
Expectchildtorequiremultiplesets
Needclosermonitoringandaudiologyvisits
Risks:
Otorrhea,persistentperforation,cholesteatoma

Tubereinsertionshouldbecounseledasacontinuationof
treatmentNOT afailureoftreatment

ObstructiveSleepApnea

Estimatedashighas80%inDSvs 12%nonsyndromic15,16
Manypredisposingfactorsthatcontribute
Singlemodalitytreatmentoftennotcurative
Canleadtofurtherneurocognitivedelayinthealready
delayed
PulmonaryHTNinchildrenpredisposedtocardiacanomalies

PredisposingFactors

Midfacial andmandibularhypoplasia
Relativemacroglossia
Glossoptosis
Smallerupperairwaypronetoadenotonsillarencroachment
Lingualtonsilhypertrophy
Laryngomalacia
Increasedsecretions
Increasedobesity
Generalizedhypotonia

Prospective;agematched;4groupstudydesign
FacialanalysisofDStoSiblingstobothagematched
samples(n=55ineachgroup)
Examinedfacialpointsforfluctuatingasymmetry(FA)
betweenallgroups

Conclusions:
DSsamplehadfluctuatingfacialasymmetrywhencomparedto
othergroups
Whencomparedtosiblings,DShad2.7to6.9foldnumberof
significantdifferencesinfacialfeatures/regions
Frontalprominencewasmoststable
Mandibularprominencemostunstable/underdevelopedfollowed
bymaxillaryprominence

ExamineifDSpatientshavetruemacroglossia
16DScomparedtoagematchednonDSpatients
AllOAHI>5
MRIexaminedtonguesize&bonyconfines

Conclusion
DStonguesmaller thancontrol(p=0.02)
DSbonyconfinessmaller thancontrol(p<0.001)
THUS Tonguesizerelativetobonyconfineslargerthancontrol(p<0.001)

AdenotonsillarEncroachment
Thoughttobesecondarynarrowingofnasopharynxand
oropharynx
Contributionbyrelativehypotonia
Adenotonsillectomyonlycurative27%ofDSpatients17
OngoingCHPstudyonTA,PSGandDS(Thottam,Choi,Kitsko)
CSAdecreasepostTA(p=0.02)
88%reductionindiseaseseverity(p<0.001)
TAsizecorrelatedwithsurgicalresponse(p=0.02)

Retrospectivecasecontrolstudylateralxray
Examinedlingualtonsillar sizeinpatients(105DS&89nonDS)
Lingualtonsillar sizewassignificantlylargerinDS(p=0.0008)
Lingualtonsillar sizecorrelatedwithincreasingageinDS
(p<0.0001)

Concluded:Lingualtonsillar hypertrophymorecommoninDS
andincreaseswithageinDS

ExaminedDS&agecontrolnonDSpatientswithoutOSA
UnderwentMRIevaluationsofairwayvolume&measurements
Conclusion
AirwayvolumeinDS18%smaller/16%oropharynx
Smallerbonyparameters(midlowerface)
DSwithoutOSAhadsmallertonsil&adenoidscomparedto
controls&similarBOTandparapharyngeal softtissue
LikelysofttissuecrowdingatsitescausingOSA

So,whoneedstobeevaluatedand
when?

DSunderwentovernightPSGsafterexam&questions
ParentalquestionnairesonOSAsigns/symptoms,physicaland
history
Results
69%(24/35)parentsreportednosleepproblemsBUT 54%
(13/24)ofthisgroupdemonstratedOSAonPSG
60%ofkidswithnegativehistorieshadabnormalPSGs
Concluded: AllDSchildrenbetweenages34yearsofageshould
getovernightbaselinePSGtohaveobjectivedata

Sowhatkindofstudy?
HASTOBEOVERNIGHTSTUDY
Napstudiestendtounderestimateseverity18
Napstudieshavedemonstratedlesssensitivity(75%)
ofpatientswithOSA;comparedtofullnight(100%)in
previousstudy18

SOwhygetaPSGinDS
CLINICALPRACTICEGUIDELINE19
AllchildrenwithDSgetPSGbeforeundergoingTA

Parentsjustdontunderstand itsunderreported
Givethemobjectiveevidence

MayrequiremorethanjustaTA
Canfollowresultsandprogression(baseline)

SurgicalTreatmentDS&OSA
Adenotonsillectomyaloneinitially
Nodatatosupportmoreaggressivesurgeryinitially20
TA+lateral pharyngoplasty vs TAalone20
1.

NostatisticaldifferenceinOSApostoperativelywith
roughly5060%bothhavingresidualOSA

Nextplacetolook>BOT/lingualtonsils
Genioglossus advancement+BOTcoblation postTA21
1.

63%ofDSpatientsAHI<5postprocedure

PointsforParentson
OSA/DS/Surgery
PSGneededbeforesurgery
TAoftennotcurativesooftensetrealisticgoals
25%cureratebutamuchhigherreductionrate22
ReduceCPAPsettings/increasecompliance

IfobeseBMIreductionalwayshelps
Increasedriskandhavetostayovernight23,24
Longerhospitalstay;decreasedPO;5xsincreaseinrespiratoryevent

IncreasedriskofVPIandhypernasal speech24,25
Higharchedpalate,hypotonia,Levator dysfunction

Moresurgery/furtherinterventionsandPSGsarecommon

GeneralOperativeConsideration
SubglotticStenosis

Atlantoaxialinstability
(def)increasedmobilityatthearticulationofthefirst&second
cervicalvertebrae
Duetogeneralizedligamentouslaxityofanyoforallthe3
ligamentsoftheC1C2joint

SubglotticStenosis

SubglotticStenosisandDS26
4%ofDSpopulationrequiredLTRSvs.0.15%ofnonDS
Secondarytocongenitalnarrowingandacquired
LTPforSGSinDS:TheCincinnatiExperience27
Higherrateofintubation2ndarytocardiacsurgery
Severerespiratoryinfectionsrequiringintubation
Theaboveoccursatayoungage=increasedriskofSGS

ProspectivelyevaluatedDSairwaysizeinDS(42)
comparedtocontrol(32)
LeaktestsandMRIs(evaluatediameter)
Concluded
DSkidsrequiredETT23sizessmaller

Recommended:ETTinDSbe2sizessmallerfor
intubationandcriticaltocheckforairleakat1030cm
H20

AAInstabilityinDS
Wasfirstbroughttowideattentionin1983SpecialOlympics
Incidencereportedtobearound14%BUTonly1.5%27
determinedtosymptomatic
CatastrophicinjurycanoccuratextensionandrotationBUT
hasbeendemonstratedinpatientswithlongstandinghistory
ofsigns(abnormalgait;limitedneckmobilityetc)28
Recommendations:
1. Historyofneurologicalsignsgreaterprioritythanradiography
2. SupportheadwithrotationforBMTandlimitedextension

Summary
Forstenotic earcanalshearingandcerumen shouldbe
monitoredclosely
DSchildshouldundergobehavioralaudiologic testingq6
monthsorq3ifcanalsarestenotic untilabletotolerateear
specifictesting
TreatOMEaggressively&prepareformultipletubes
HighrateofOSA&getPSGat34y/oregardless
TAisfirsttreatmentbutonly25%successful
Intubatewithtube2sizessmaller
Carefulwhenturningheadandhistoryismostimportant

ThankYou

Citations
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