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ARSI-EHDI PROGRAMS WORLDWIDE by broverya84

VIEWS: 11 PAGES: 32

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




                              Association for Research on
                               Infant Hearing (non-profit)
    A QUESTION OF TERMINOLOGY

< 2000 UNHS = Universal Newborn Hearing Screening
~ 2002 EHDI = Early Hearing Detection and Intervention

~ 2005 HDI    = Hearing Detection and Intervention
                        Summary
_________________________________________________________________




 Penetration of EHDI systems
 Protocols and Recommendations (i.e.
  genetic testing)
 Int’l Group on Childhood Hearing
 EHDI Systems in the European area

                     AUSTRIA, BELGIUM (Fl), CROATIA,
                     ENGLAND, LUXEMBOURG, THE
IMPLEMENTED (>85%)   NETHERLANDS, POLAND,
                     SWITZERLAND
                     GERMANY (7/15), ITALY (7/20),
PARTIAL IMPLEMENT.   LITHUANIA (50), MALTA(70), SPAIN
                     (50)
                     BELGIUM (Fr), CYPRUS, DENMARK,
ADVANCED PLANNING    FRANCE
                     CZECH REPUBLIC, ESTONIA,
                     FINLAND, GREECE, HUNGARY,
     PILOTS          IRELAND, LATVIA, NORWAY,
                     PORTUGAL, ROMANIA, SLOVAKIA,
                     SLOVENIA, SWEDEN
EHDI SYSTEMS IN THE EUROPEAN AREA

                         IMPLEMENTED (>85%)
                         PARTIALLY IMPLEM.
                         ADV. PLANNING
                         PILOTS
EHDI Systems in the European area

 The quality of audiological services varies
  dramatically from state to state
 The success of the newly established EHDI
  programs does NOT reflect the economic
  conditions
 Implementation of successful programs is
  more the result of (pre-existing) coordination
  among clinical communities at regional/
  national level (the concept of integrated
  diagnostic-rehab path for each pathology)
EHDI Systems in the European area

 Not always (rarely?!) the process was driven by
  pediatric audiologists, nor by audiologists
  themselves
 In many countries of the EU pediatric audiology
  was already in good shape.
 Allthroghout Europe the quality of audiological
  services (and not only for pediatric audiology) is
  receiving a tremendous positive impulse from
  the implementation of EHDI programs
 The concept of UNHS as an accelerator of
  Audiology and related disciplines (the horse of
  Troy)
EHDI Systems in the European area

 Countries with a national health service in place
  were able to implement better and more efficient
  EHDI and HDI systems
 Countries where health services are organized
  at a regional level (Germany, Italy, Spain, and
  partially Sweden) are still behind (the concept of
  critical mass)
_________________________________________________________________



• Penetration of EHDI systems
• About protocols and Recommendations (i.e.
  genetic testing)
• Int’l Group on Childhood Hearing
              Genetic testing

 Genetic defects produce more than 60% of the
  congenital hearing losses
 About 30% of these are syndromic
 The remaining 70% are due to non-syndromic
  mendelian hereditary or mytocondrial defects:
       Recessive (~80%)
       Dominants (~20%)
       X-linked (~1%)
       Mytocondrial (~1%)
         Genetic testing
  The need for recommendations

 Though recommendations may be tailored to
  local specific population-based studies, some
  general guidelines on genetic testing are
  needed
 A few studies are coming out
 An example of guidelines: a proposal coming
  from a working group on genetic deafness



            www.gendeaf.org
   refer

                Acquired
               hearing loss
Audiological
assessment
                Unkown
                etiology


                 Genetic
                 testing
                  Individual and family
                      examination

refer   Genetic
        testing

                        Genetic
                     investigations
                                 Genetic investigation


 Non-syndromic                                                                   Syndromic


      GJB2             No mutations

                                                                                dysmorphologies

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


                                                 DelG JB6D13 S1830                Genetic tests
                                                                                  (if available)
                                                positive       negative
         Identified
      genetic defect                                                                             RR

  RR                                                   MtA15 5 5 G                Unidentified

                                            positive                             genetic defect
                                                                     negative
          Family
         screening
   SCREENING PROTOCOLS

Towards a two-track protocol
  At-risk (NICU): AABR-based (+OAE, for AN screening)

  Well-babies:
          1- or 2-stage AOAE+AABR
          1-stage AABR


                                                  16
  SCREENING PROTOCOLS

 Several large scale national/ regional
  programs have adopted the two-track
  protocol (e.g. England, Denmark,
  regions of Spain, most of the Swiss
  programs)
 Overall, the AOAE+AABR model is
  predominant (>80% of the local
  screening programs)
                                           17
                    AOAE
             pass              fail

                 STOP     AABR
                        pass          fail

                         STOP
                                       REFER
3rd GENERATION
  AOAE+AABR
    DEVICES
                                               18
    COMBINED AOAE+AABR
 Intracanal calibration for OAE and ABR
 Lower refers and false-positive cases
 Great flexibility to cope with the variety of screening
  conditions: nursery, NICU….
 Minimal parental anxiety (no more a real problem)
 Fewer diagnostic tests
 Less infants lost to follow-up
 Quicker & more appropriate management
 Screening for auditory neuropathy in just 1 session


                                                     19
_________________________________________________________________



• Penetration of EHDI systems
• About protocols and recommendations (i.e.
  genetic testing)
• International Working Group on Childhood
  Hearing




                                                            20
3




    1


        2
Trevor Baillie         Monika Lehnhardt
Sara Blair Lake        Thomas Lenarz
Ora Buerkli            Andre' Marcoux
Sandro Burdo           Judith Marlowe
Gwen Carr              Borut Marn
Patrick S.C. D'Haese   Agnete Parving
Reza Farienfar         Theresa Pitt
Ferdi Grandori         Gerald Popelka
Judith Gravel          Rudolf Probst
Deborah Hayes          Gabe Raviv
Martyn Hyde            Gabriella Tognola
Yalanda Ivey           Karl White
Bue B. Kristensen      Peter 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.IT
Argentina        FEW
Armenia          ATTEMPTS
Australia +++    PI
Brazil           FEW
Bulgaria         ATTEMPTS
Canada +++       PI
China       +    ATTEMPTS
Cuba       ++    PI
India            ATTEMPTS
Indonesia        ATTEMPTS
Israel    ++++   I
Japan           +++     PI
Jordan                  ATTEMPTS
Mexico                  ATTEMPTS
N. Zealand       +      PI
Palestinian Authority   ATTEMPTS
Russia           +      FEW
Serbia&Montenegro       ATTEMPTS
Singapore        +      FEW
South Africa     +      FEW
South Korea             ATTEMPTS
Turkey           +      FEW
        NHS Conferences
800
                             725
700

600                  550
500          440
400                                  Delegates
                               295
300                    235           Presentations
      190      182
200
        97
100

 0
      1998   2000    2002    2004           31
WWW.NHS2006.POLIMI.IT

								
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