ent considerations in down’s

7/25/2019 ENT Considerations in Downs

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ENTConsiderations

in

Downs

SyndromePrasad

John

Thottam,

DO

PediatricOtolaryngologyFellow

ChildrensHospitalofPittsburghofUPMC


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Generalinformation/definitions/considerations

Otologicmanifestations

Airwayand

sleep

considerations

Generalsurgicalandmanagementpearls

Outline


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Identifiedasasyndromein1886byJohnLandonDown

Microgenia,macroglossia,epicanthalfolds,upslantingpalpebralfissures,shorterlimbs,singletransversepalmarcrease,poormuscletone,mentalretardationandlearningdisabilities

OriginallydescribedasMongolianidiocyuntil1961Lancet

publication

changing

name

to

Downs

Syndrome

Chromosomalabnormality/chromosome21trisomywasidentifiedin1959byJeromeLejeune

History


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Trisomy21(47chromosomes;3chrms 21)

94%ofDowns

Riskincreases

with

maternal

age

Robertsonian translocationinvolvingchrm 21

34%ofcases

Notassociated

with

maternal

age

Trisomy21Mosaicism

12%ofcases

Genetics


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Mostcommoncongenitalchromosomalabnormality

1of700livebirth1

Massivegainslifeexpectancyoverthepast40years

Lifeexpectancyin1983 25years2

Lifeexpectancyin2014 50to60years3

Primaryreasoning

congenital

heart

surgical

advancement2,3

>50%reportseeinganotolaryngologistregularly4

Epidemiology


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Anatomical

Midface hypoplasia

Shortenedpalate

RelativeMacroglossia

Narrowedoropharynxandnasopharynx

Hypotonia

Paranasalsinusabnormalities

Systemic

Immunologicdeficiency

Ciliary dyskinesia

Predisposition

to

ENT

related

Problems


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Congenitalheartdisease

Pulmonaryhypertension

GERD

Subglotticstenosis

Cervicalinstability

Comorbidities


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EACstenosis

Highincidenceofotitismedia

Highincidence

of

chronic

ear

disease

Secondaryhearingloss

Ossicularabnormalities

Innerear

dysplasia

OtologicManifestation


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Presentin4050%ofDSnewborns5

Generallyresolvesvianaturalprogressionandnotan

obstacleby

23

years

of

age5

Importantbecause:PCPexamination/infectionandhearingmonitoring

Recommendation:Followupevery3monthsformicroscopicevaluation5

Stenotic ExternalCanals


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Reducedimmunesystem:T&Bcellreduction;IgG4reduction;defectiveneutrophilchemotaxis6,7

Midface hypoplasia=

narrowed

ET

and

nasopharynx

Adenoidtissueencroachment

ETcartilagecollapseanddecreasedtensorveli

palatini function Mastoidaeration

Possiblehistopathologic changesofMEmucosa

OtitisMedia/

Chronic

Ear

Disease


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CongenitalanomaliesoftheETinDS:Histopathology9

DSETsmaller,collapsedinmidcartilaginous,isthmusandpoorlydevelopedlateralcartilage

TemporalbonemorphometricstudyonET&assoc.structuresinpatientswithchromosomalaberrations10

Chromosomalaberration

patients

had

smaller

volume

of

lateral

laminacartilage,reducedtensorveli palatini m.attachment

Chrom.aberrationpatientsreducedLLtoMLratio

EustachianTube


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Examinedpatientsundergoingtympanoplasty DS&

Non

DS

for

history

of

COM Otorrhea 60%ofDSvs 27.2%NonDS(p


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Animalmodel

Ts65Dnmice

(TrisomyChrm >80%

homologous

with

Human

21)

comparedtowildtype

ABRs/HistologicalexamofME/BacterialCultures

Results ABRrequiredhighermeanthresholdinTs65Dnduetoeffusions

Ts65Dnmicedemonstratedhigherdensityofgobletcells


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HigherprevalenceofhearinglossinDSregardlessofCHL/Mixed/SNHL12

Estimated5090%ofDSchildrendxwithhearingimpairmentvs 49%generalpopulation12,13

Monitoringisparamountashearinglosscanbedismissedasnaturalcourse/intellectualimpairment

HearingLoss


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Designedasstudytoexamineneedforamplificationin

specializedschools

92DSchildrenwithmild moderateintellectualimpairmentenrolledinspecialneedschools

Perceivedhearingimpairmentasked

Otologicexam;

Tympanogram;

TEOAEs;

PTA

conducted

90%ofparticipantshadatleast>25dBHLinoneear

19.1%hadTypeBtympanogram inatleastoneear


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HearinglossismaskedbyvariousdelaysseeninDS(speech;intellectual)14

Earlydetection

and

associated

maintenance

critical

Effectofhearinglossisgreateronchildrenwithdevelopmentaldelaycomparedtonondelayed(critical)14

HearingLoss


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ABR/OAEscreeningatbirth

Hearingscreeningevery6monthsuptoage3depending

if

ear

specific

behavior

audiometry

can

be

establishedandisnormal

Onceearspecificaudiometryestablished testing

performedannually


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Surprisinglycontroversial

Shorttermefficacyoftympanostomy tubesforsecretoryOMin

childrenwith

DS15

24DSvs 21nonDS/AllwithsecretoryOMandCHL/Agematched

Audiogramperformed69wks postBMT

60%of

DS

vs 91%

in

non

DS

reported

improvement

NOTE:allpatientsovertheageof6>delayoftreatment

Tympanostomy Tubes


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ProspectivestudyexaminingDS/OME/BMTovertime

Allenrolledundertheageof2with81%CHL

Followedby

ENT

every

3

6

months

TreatedwithBMTandreplacements

At2years93%hadnormalhearing

Aggressivemanagement

of

DS

OME

=

3.6xs

higher

rate

of

normalhearingcomparedtoagematchednonaggressivetreatment


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Agerequiring

first

set

of

tubes


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RelationshipofotitismediaandlanguageimpairmentinadolescentswithDS14

Examinedlanguage

scores

in

DS

adolescents

now

with

normal

hearing

KidswithhistoryoftubeshadhigherlanguagescoresthanDSwithnotubeswhohad>3knownchildhoodinfxns

Conclusion

Temporaryhearinglossmayplayroleinlanguagedeficits

Hearinglosseffectscanbepresentlongafterdiseasecourse

Tympanostomy Tubes&DSConsiderations


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TubesmaybeplacedearlyinchildrenwithDS

Expectchildtorequiremultiplesets

Needcloser

monitoring

and

audiology

visits

Risks:

Otorrhea,persistentperforation,cholesteatoma

TubereinsertionshouldbecounseledasacontinuationoftreatmentNOTafailureoftreatment

Factsfor

parents

tubes

in

DS


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Estimatedashighas80%inDSvs 12%nonsyndromic15,16

Manypredisposingfactorsthatcontribute

Singlemodality

treatment

often

not

curative

Canleadtofurtherneurocognitivedelayinthealreadydelayed

Pulmonary

HTN

in

children

predisposed

to

cardiac

anomalies

ObstructiveSleep

Apnea


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Midfacial andmandibularhypoplasia

Relativemacroglossia

Glossoptosis Smallerupperairwaypronetoadenotonsillarencroachment

Lingualtonsilhypertrophy

Laryngomalacia

Increasedsecretions

Increasedobesity

Generalizedhypotonia

PredisposingFactors


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Prospective;agematched;4groupstudydesign

FacialanalysisofDStoSiblingstobothagematchedsamples(n=55ineachgroup)

Examinedfacialpointsforfluctuatingasymmetry(FA)betweenallgroups


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Conclusions:

DSsamplehadfluctuatingfacialasymmetrywhencomparedto

othergroups

Whencomparedtosiblings,DShad2.7to6.9foldnumberofsignificantdifferencesinfacialfeatures/regions

Frontalprominencewasmoststable

Mandibularprominence

most

unstable/

underdeveloped

followed

bymaxillaryprominence


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ExamineifDSpatientshavetruemacroglossia

16DScomparedtoagematchednonDSpatients

All

O

AHI>

5

MRIexaminedtonguesize&bonyconfines

Conclusion

DStonguesmaller thancontrol(p=0.02)

DSbonyconfinessmaller thancontrol(p


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Thoughttobesecondarynarrowingofnasopharynxandoropharynx

Contributionby

relative

hypotonia

Adenotonsillectomyonlycurative27%ofDSpatients17

OngoingCHPstudyonTA,PSGandDS(Thottam,Choi,Kitsko)

CSAdecreasepostTA(p=0.02)

88%reductionindiseaseseverity(p


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Retrospectivecasecontrolstudylateralxray

Examinedlingualtonsillar sizeinpatients(105DS&89nonDS)

Lingualtonsillar sizewassignificantlylargerinDS(p=0.0008)

Lingualtonsillar sizecorrelatedwithincreasingageinDS

(p


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ExaminedDS&agecontrolnonDSpatientswithoutOSA

UnderwentMRIevaluationsofairwayvolume&measurements

Conclusion

AirwayvolumeinDS18%smaller/16%oropharynx

Smallerbony

parameters

(mid

lower

face)

DSwithoutOSAhadsmallertonsil&adenoidscomparedtocontrols&similarBOTandparapharyngeal softtissue

Likely

soft

tissue

crowding

at

sites

causing

OSA


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So,whoneedstobeevaluatedandwhen?


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DSunderwentovernightPSGsafterexam&questions

ParentalquestionnairesonOSAsigns/symptoms,physicalandhistory

Results

69%(24/35)parentsreportednosleepproblemsBUT 54%(13/24)ofthisgroupdemonstratedOSAonPSG

60%of

kids

with

negative

histories

had

abnormal

PSGs

Concluded:AllDSchildrenbetweenages34yearsofageshould

getovernight

baseline

PSG

to

have

objective

data


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HASTOBEOVERNIGHTSTUDY

Napstudies

tend

to

underestimate

severity18

Napstudieshavedemonstratedlesssensitivity(75%)ofpatientswithOSA;comparedtofullnight(100%)inpreviousstudy18

Sowhat

kind

of

study?


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CLINICALPRACTICE

GUIDELINE19

AllchildrenwithDSgetPSGbeforeundergoingTA

Parentsjust

dont

understand

its

under

reported

Givethemobjectiveevidence

May

require

more

than

just

a

TA

Canfollowresultsandprogression(baseline)

SOwhy

get

a

PSG

in

DS


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Adenotonsillectomyaloneinitially

Nodatatosupportmoreaggressivesurgeryinitially20

TA+lateral pharyngoplasty vs TAalone20

1. Nostatistical

difference

in

OSA

post

operatively

with

roughly5060%bothhavingresidualOSA

Nextplacetolook>BOT/lingualtonsils

Genioglossus advancement+BOTcoblation postTA21

1. 63%ofDSpatientsAHI


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PSGneeded

before

surgery

TAoftennotcurativesooftensetrealisticgoals

25%cureratebutamuchhigherreductionrate22

ReduceCPAPsettings/increasecompliance

IfobeseBMIreductionalwayshelps

Increasedriskandhavetostayovernight23,24

Longerhospitalstay;decreasedPO;5xsincreaseinrespiratoryevent

Increasedrisk

of

VPI

and

hypernasal speech24,25

Higharchedpalate,hypotonia,Levator dysfunction

Moresurgery/furtherinterventionsandPSGsarecommon

PointsforParentsonOSA/DS/Surgery


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SubglotticStenosis

Atlantoaxialinstability

(def)increasedmobilityatthearticulationofthefirst&secondcervicalvertebrae

Duetogeneralizedligamentouslaxityofanyoforallthe3

ligamentsof

the

C1

C2

joint

GeneralOperative

Consideration


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SubglotticStenosisandDS26

4%ofDSpopulationrequiredLTRSvs.0.15%ofnonDS

Secondaryto

congenital

narrowing

and

acquired

LTPforSGSinDS:TheCincinnatiExperience27

Higherrateofintubation2ndarytocardiacsurgery

Severerespiratoryinfectionsrequiringintubation

Theaboveoccursatayoungage=increasedriskofSGS

SubglotticStenosis


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ProspectivelyevaluatedDSairwaysizeinDS(42)comparedtocontrol(32)

Leak

tests

and

MRIs

(evaluate

diameter)

Concluded

DSkidsrequiredETT23sizessmaller

Recommended:ETTinDSbe2sizessmallerforintubationandcriticaltocheckforairleakat1030cmH20


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Wasfirstbroughttowideattentionin1983SpecialOlympics

Incidencereportedtobearound14%BUTonly1.5%27

determinedtosymptomatic

Catastrophicinjury

can

occur

at

extension

and

rotation

BUT

hasbeendemonstratedinpatientswithlongstandinghistoryofsigns(abnormalgait;limitedneckmobilityetc)28

Recommendations:

1. Historyofneurologicalsignsgreaterprioritythanradiography

2. SupportheadwithrotationforBMTandlimitedextension

AAInstability

in

DS


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Forstenotic earcanalshearingandcerumen shouldbemonitoredclosely

DSchildshouldundergobehavioralaudiologic testingq6

monthsor

q3

if

canals

are

stenotic until

able

to

tolerate

ear

specifictesting

TreatOMEaggressively&prepareformultipletubes

HighrateofOSA&getPSGat34y/oregardless

TAis

first

treatment

but

only

25%

successful

Intubatewithtube2sizessmaller

Carefulwhenturningheadandhistoryismostimportant

Summary


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ThankYou


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ent considerations in down’s

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