ent considerations in down’s
TRANSCRIPT
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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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