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Association for Research on Infant Hearing (non-profit)

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

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Association for Research on Infant Hearing (non-profit)

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  1. Present and future of Early Hearing Detection and Intervention Systems in the European AreaFerdinando GrandoriNational Res. Council - Institute of Biomedical Engineering Association for Research on Infant Hearing (non-profit)

  2. A QUESTION OF TERMINOLOGY • < 2000 UNHS = Universal Newborn Hearing Screening • ~ 2002 EHDI = Early Hearing Detection and Intervention • ~ 2005HDI = Hearing Detection and Intervention

  3. Summary_________________________________________________________________Summary_________________________________________________________________ • Penetration of EHDI systems • Protocols and Recommendations (i.e. genetic testing) • Int’l Group on Childhood Hearing

  4. EHDI Systemsin the European area

  5. EHDI SYSTEMS IN THE EUROPEAN AREA IMPLEMENTED (>85%) PARTIALLY IMPLEM. ADV. PLANNING PILOTS

  6. EHDI Systemsin 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)

  7. EHDI Systemsin 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)

  8. EHDI Systemsin 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)

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

  10. 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%)

  11. Genetic testingThe 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

  12. refer Acquired hearing loss Audiological assessment Unkown etiology Genetic testing

  13. Individual and family examination refer Genetic testing Genetic investigations

  14. Genetic investigation Non-syndromic Syndromic No mutations GJB2 dysmorphologies Composite Homo-heterozygote (recess.) or heterozyg. (dom.) Heteroz. Recess. Genetic tests (if available) DelG JB6D13 S1830 positive negative Identified genetic defect RR RR MtA15 5 5 G Unidentified geneticdefect positive negative Family screening

  15. 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 fail pass 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

  21. SUB-GROUPS • Permanent observatory of EHDI / childhood hearing • Outcomes of EHDI programs • Genetics • Minimum requirements / standards for screening and diagnostic equipment • Pediatric audiology services

  22. CHILDHOODHEARING.ISIB.CNR.IT

  23. Argentina FEW Armenia ATTEMPTS Australia +++PI Brazil FEW Bulgaria ATTEMPTS Canada +++PI China +ATTEMPTS Cuba ++PI India ATTEMPTS Indonesia ATTEMPTS Israel ++++I

  24. 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

  25. NHS Conferences

  26. WWW.NHS2006.POLIMI.IT

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