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7/27/2019 Fran Hickey: Clinical Care and the Importance of Clinical Research in Down Syndrome
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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
7/27/2019 Fran Hickey: Clinical Care and the Importance of Clinical Research in Down Syndrome
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7/27/2019 Fran Hickey: Clinical Care and the Importance of Clinical Research in Down Syndrome
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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
7/27/2019 Fran Hickey: Clinical Care and the Importance of Clinical Research in Down Syndrome
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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
7/27/2019 Fran Hickey: Clinical Care and the Importance of Clinical Research in Down Syndrome
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NaonalDownSyndromeSocietyDSClinicMap
7/27/2019 Fran Hickey: Clinical Care and the Importance of Clinical Research in Down Syndrome
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AutismSpeaksLaunchesFirst-of-its-KindNationalHousingandResidentialSupportsSurvey!
Withinthenextdecade,morethan500,000individualswithautismwillenteradulthood.AutismSpeaksseekstoquantifyandcharacterizethehousingneedsofindividuals,adolescentsandadultswithautismintheUnitedStatesthroughthefirst-of-its-kind
NationalHousingandResidentialSupportsSurvey.
AdvocacyResearch
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Thend