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FranHickeyMDMedicalDirector

SieCenterforDownSyndromeandLindaCrnicInstitute

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People First LanguageCorrectnameforthisdiagnosisisDownsyndrome.Thereisnoapostrophe(Down).Thesinsyndromeisnotcapitalized(syndrome)Encouragepeopletousepeople-firstlanguage.ThepersonwithDownsyndrome,nottheDownsyndromeperson.Apersonwith

DownsyndromeisnotaDownsItisimportanttousethecorrectterminology.ApersonhasDownsyndrome,ratherthansuffersfrom,isavicEmof,isdiseasedwithorafflictedby

Eachpersonhashis/herownuniquestrengths,capabiliesandtalents.TrynottousetheclichsthataresocommonwhendescribinganindividualwithDownsyndrome.GeneralizaEonallowsmarginalizaEonofcare

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Health Supervision for Children with Down

Syndrome: AAP, August 2011 Pediatrics2011 TheseguidelinesaredesignedtoassistthepediatricianandSubspecialistsincaringforthechildwithadiagnosisofDownsyndrome

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Of the 671 patients seen at the Sie Center.

71% referred to Audiology 33% referred to Cardiology 61% referred to get labs (TSH, T4) 51% referred to Ophthalmology 36% referred to get a sleep study

0

100

200

300

400

500

600

700

Audiology Cardiology Labs Opthalmology SleepStudies

NumberofPatientReferrals

476

221

407

344

244

Impact on Compliance to AAP/ Down

Syndrome Guidelines

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DownSyndromeClinicalResearch

ImprovingMedicalCare

CardiologyRespiratorySleepApneaAutoimmuneIEThyroidCeliacDiseasesHeme-OncExerciseNutrition

Feeding-AspirationIssues ClinicalTrials.govAserviceoftheU.S.NationalInstitutesofHealth

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CeliacDiseaseVariablepresentaEon;however,mayhaveneurologicalandbehavioralconsequences

Book01,Zachor00

Seizures-Needtobeawaresinceoccursin2-10%Stern-Goldberg01,Smigielska-Kuzia09

AuEsmSpectrumDisorder/AuEsm-Difficulttodiagnoseorrecognizethisdualdiagnosis

Kent99,Hickey06,andDiGuiseppi10,allindicated7%prevalencerange

DOWN SYNDROME CO-MORBIDITY RULEOF 7:

THE FORGOTTENAND UNDER-DIAGNOSED 7%

CLINICALRESEARCHLEADINGTOIMPROVEDCARE

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DownSyndrome

ResearchCommiFee

@SieCenter

To review clinical

research requests

involving Down syndrome

4 Parents involved in care

and advocacy

3 Pediatricians with childrenwith Down syndrome

3 Leadership members fromthe Sie Center

Research Coordinator andAssistant

National leader and founderof DSMIG

Dr Bonnie Patterson

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NaonalDownSyndromeSocietyDSClinicMap

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AutismSpeaksLaunchesFirst-of-its-KindNationalHousingandResidentialSupportsSurvey!

Withinthenextdecade,morethan500,000individualswithautismwillenteradulthood.AutismSpeaksseekstoquantifyandcharacterizethehousingneedsofindividuals,adolescentsandadultswithautismintheUnitedStatesthroughthefirst-of-its-kind

NationalHousingandResidentialSupportsSurvey.

AdvocacyResearch

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Thend