Present and future of Early Hearing Detection and Intervention Systems in the European Area Ferdinando Grandori National Res. Council - Institute of Biomedical

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Present and future of Early Hearing Present and future of Early Hearing Detection and Intervention Systems Detection and Intervention Systems

in the European Areain the European Area Ferdinando GrandoriFerdinando Grandori

National Res. Council - Institute of Biomedical EngineeringNational Res. Council - Institute of Biomedical Engineering

Association for Research on Infant Hearing (non-profit)

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A QUESTION OF TERMINOLOGYA QUESTION OF TERMINOLOGY

< 2000< 2000 UNHS = Universal Newborn Hearing ScreeningUNHS = Universal Newborn Hearing Screening

~~ 2002 2002 EHDI EHDI = Early Hearing Detection and = Early Hearing Detection and InterventionIntervention

~ 2005~ 2005 HDIHDI = Hearing Detection and = Hearing Detection and InterventionIntervention

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SummarySummary_________________________________________________________________

Penetration of EHDI systemsPenetration of EHDI systems

Protocols and Recommendations (i.e. Protocols and Recommendations (i.e. genetic testing)genetic testing)

Int’l Group on Childhood HearingInt’l Group on Childhood Hearing

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EHDI SystemsEHDI Systems in the European areain the European area

IMPLEMENTED (>85%)IMPLEMENTED (>85%)

AUSTRIA, BELGIUM (Fl), AUSTRIA, BELGIUM (Fl), CROATIA,CROATIA, ENGLANDENGLAND, , LUXEMBOURG, THE LUXEMBOURG, THE NETHERLANDS, POLAND, NETHERLANDS, POLAND, SWITZERLANDSWITZERLAND

PARTIAL IMPLEMENT.PARTIAL IMPLEMENT.GERMANY (7/15), ITALY (7/20), GERMANY (7/15), ITALY (7/20), LITHUANIA (50), MALTA(70), SPAIN LITHUANIA (50), MALTA(70), SPAIN (50)(50)

ADVANCED PLANNINGADVANCED PLANNING BELGIUM (Fr), CYPRUS, DENMARK, BELGIUM (Fr), CYPRUS, DENMARK, FRANCEFRANCE

PILOTSPILOTS

CZECH REPUBLIC, ESTONIA, CZECH REPUBLIC, ESTONIA, FINLAND, GREECE, HUNGARY, FINLAND, GREECE, HUNGARY, IRELAND, LATVIA, IRELAND, LATVIA, NORWAY,NORWAY, PORTUGAL, PORTUGAL, ROMANIA,ROMANIA, SLOVAKIA, SLOVAKIA, SLOVENIA, SWEDENSLOVENIA, SWEDEN

EHDI SYSTEMS IN THE EUROPEAN AREAEHDI SYSTEMS IN THE EUROPEAN AREA

IMPLEMENTED (>85%)IMPLEMENTED (>85%)

PARTIALLY IMPLEM.PARTIALLY IMPLEM.

ADV. PLANNINGADV. PLANNING

PILOTSPILOTS

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The quality of audiological services varies The quality of audiological services varies dramatically from state to statedramatically from state to state

The success of the newly established EHDI The success of the newly established EHDI programs does NOT reflect the economic programs does NOT reflect the economic conditionsconditions

Implementation of successful programs is Implementation of successful programs is more the result of (pre-existing) coordination more the result of (pre-existing) coordination among clinical communities at regional/ among clinical communities at regional/ national level (the concept of national level (the concept of integrated integrated diagnostic-rehab pathdiagnostic-rehab path for for each pathologyeach pathology))

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Not always (rarely?!) the process was driven by Not always (rarely?!) the process was driven by pediatric audiologists, nor by audiologists pediatric audiologists, nor by audiologists themselvesthemselves

In many countries of the EU pediatric audiology In many countries of the EU pediatric audiology was already in good shape. was already in good shape.

Allthroghout Europe the quality of audiological Allthroghout Europe the quality of audiological services (and not only for pediatric audiology) is services (and not only for pediatric audiology) is receiving a tremendous positive impulse from receiving a tremendous positive impulse from the implementation of EHDI programsthe implementation of EHDI programs

The concept of UNHS as an accelerator of The concept of UNHS as an accelerator of Audiology and related disciplines (the horse of Audiology and related disciplines (the horse of Troy)Troy)

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Countries with a national health service in place Countries with a national health service in place were able to implement better and more efficient were able to implement better and more efficient EHDI and HDI systemsEHDI and HDI systems

Countries where health services are organized Countries where health services are organized at a regional level (Germany, Italy, Spain, and at a regional level (Germany, Italy, Spain, and partially Sweden) are still behind (the concept of partially Sweden) are still behind (the concept of critical mass)critical mass)

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_________________________________________________________________

• Penetration of EHDI systems

• About protocols and Recommendations (i.e. About protocols and Recommendations (i.e. genetic testing)genetic testing)

• Int’l Group on Childhood Hearing

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Genetic testingGenetic testing

Genetic defects produce more than 60% of the Genetic defects produce more than 60% of the congenital hearing lossescongenital hearing losses

About 30% of these are syndromic About 30% of these are syndromic

The remaining 70% are due to non-syndromic The remaining 70% are due to non-syndromic mendelian hereditary or mytocondrial defects:mendelian hereditary or mytocondrial defects:

Recessive (Recessive (~~80%)80%)

Dominants (Dominants (~~20%)20%)

X-linked (X-linked (~~1%)1%)

Mytocondrial (Mytocondrial (~~1%)1%)

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Genetic testingGenetic testingThe need for recommendations The need for recommendations

Though recommendations may be tailored to Though recommendations may be tailored to local specific population-based studies, some local specific population-based studies, some general guidelines on genetic testing are general guidelines on genetic testing are needed needed

A few studies are coming outA few studies are coming out

An example of guidelines: a proposal coming An example of guidelines: a proposal coming from a working group on genetic deafnessfrom a working group on genetic deafness

www.gendeaf.orgwww.gendeaf.org

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refer

Audiological assessment

Acquired hearing loss

Unkown etiology

Genetic testing

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Individual and family examination

Genetic investigations

Genetic testing

refer

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MtA15 5 5 GMtA15 5 5 G

Non-syndromicNon-syndromic

Genetic investigationGenetic investigation

SyndromicSyndromic

GJB2GJB2 No mutationsNo mutations

Composite Homo-heterozygote Composite Homo-heterozygote (recess.) or heterozyg. (dom.)(recess.) or heterozyg. (dom.)

Heteroz. Recess.Heteroz. Recess.

Identified Identified

genetic defectgenetic defect

Family Family screeningscreening

DelG JB6D13 S1830DelG JB6D13 S1830

positivepositive negativenegative

positivepositive negativenegative

Unidentified Unidentified

geneticgenetic defectdefect

dysmorphologiesdysmorphologies

Genetic tests Genetic tests (if available)(if available)

RR

RR

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SCREENING PROTOCOLSSCREENING PROTOCOLS

Towards a two-track protocolTowards a two-track protocol

At-risk (NICU): AABR-based At-risk (NICU): AABR-based (+OAE, for AN screening)(+OAE, for AN screening)

Well-babies:Well-babies:

1- or 2-stage AOAE+AABR1- or 2-stage AOAE+AABR 1-stage AABR1-stage AABR

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Several large scale national/ regional Several large scale national/ regional programs have adopted the two-track programs have adopted the two-track protocol (e.g. England, Denmark, protocol (e.g. England, Denmark, regions of Spain, most of the Swiss regions of Spain, most of the Swiss programs)programs)

Overall, the AOAE+AABR model is Overall, the AOAE+AABR model is predominant (>80% of the local predominant (>80% of the local screening programs)screening programs)

SCREENING PROTOCOLSSCREENING PROTOCOLS

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AOAEAOAEfailpass

STOPSTOP AAABRABR

failpass

STOPSTOP REFERREFER

3rd GENERATION 3rd GENERATION AOAE+AABR AOAE+AABR

DEVICESDEVICES

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Intracanal calibration for OAE and ABRIntracanal calibration for OAE and ABR Lower refers and false-positive casesLower refers and false-positive cases Great flexibility to cope with the variety of screening Great flexibility to cope with the variety of screening

conditions: nursery, NICU….conditions: nursery, NICU…. Minimal parental anxiety (no more a real problem)Minimal parental anxiety (no more a real problem) Fewer diagnostic testsFewer diagnostic tests Less infants lost to follow-upLess infants lost to follow-up Quicker & more appropriate managementQuicker & more appropriate management Screening for auditory neuropathy in just 1 sessionScreening for auditory neuropathy in just 1 session

COMBINED AOAE+AABRCOMBINED AOAE+AABR

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_________________________________________________________________

• Penetration of EHDI systemsPenetration of EHDI systems

• About protocols and recommendations (i.e. About protocols and recommendations (i.e. genetic testing)genetic testing)

• International Working Group on Childhood International Working Group on Childhood HearingHearing

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Trevor BaillieTrevor Baillie Monika LehnhardtMonika Lehnhardt

Sara Blair LakeSara Blair Lake Thomas LenarzThomas Lenarz

Ora BuerkliOra Buerkli Andre' MarcouxAndre' Marcoux

Sandro BurdoSandro Burdo Judith MarloweJudith Marlowe

Gwen CarrGwen Carr Borut MarnBorut Marn

Patrick S.C. D'HaesePatrick S.C. D'Haese Agnete ParvingAgnete Parving

Reza FarienfarReza Farienfar Theresa PittTheresa Pitt

Ferdi GrandoriFerdi Grandori Gerald PopelkaGerald Popelka

Judith GravelJudith Gravel Rudolf ProbstRudolf Probst

Deborah HayesDeborah Hayes Gabe RavivGabe Raviv

Martyn HydeMartyn Hyde Gabriella TognolaGabriella Tognola

Yalanda IveyYalanda Ivey Karl WhiteKarl White

Bue B. KristensenBue B. Kristensen Peter ZothPeter Zoth

SUB-GROUPS Permanent observatory of

EHDI / childhood hearing

Outcomes of EHDI programs

Genetics

Minimum requirements / standards for screening and diagnostic equipment

Pediatric audiology services

CHILDHOODHEARING.ISIB.CNR.ITCHILDHOODHEARING.ISIB.CNR.IT

Argentina FEW Armenia ATTEMPTSAustralia +++ PIBrazil FEWBulgaria ATTEMPTSCanada +++ PIChina + ATTEMPTSCuba ++ PIIndia ATTEMPTSIndonesia ATTEMPTSIsrael ++++ I

Japan +++ PIJordan ATTEMPTSMexico ATTEMPTSN. Zealand + PIPalestinian Authority ATTEMPTSRussia + FEWSerbia&Montenegro ATTEMPTSSingapore + FEWSouth Africa + FEWSouth Korea ATTEMPTSTurkey + FEW

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Delegates

Presentations

NHS ConferencesNHS Conferences

WWW.NHS2006.POLIMI.ITWWW.NHS2006.POLIMI.IT

Documents

Present and future of Early Hearing Detection and Intervention Systems in the European Area Ferdinando Grandori National Res. Council - Institute of Biomedical