Transcript arsi-ehdi programs worldwide - National Center for Hearing

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
IMPLEMENTED (>85%)
AUSTRIA, BELGIUM (Fl), CROATIA,
ENGLAND, LUXEMBOURG, THE
NETHERLANDS, POLAND,
SWITZERLAND
PARTIAL IMPLEMENT.
GERMANY (7/15), ITALY (7/20),
LITHUANIA (50), MALTA(70), SPAIN
(50)
ADVANCED PLANNING
BELGIUM (Fr), CYPRUS, DENMARK,
FRANCE
PILOTS
CZECH REPUBLIC, ESTONIA,
FINLAND, GREECE, HUNGARY,
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
GJB2
Syndromic
No mutations
dysmorphologies
Composite Homo-heterozygote
(recess.) or heterozyg. (dom.)
Heteroz. Recess.
DelG JB6D13 S1830
Identified
positive
Genetic tests
(if available)
negative
RR
genetic defect
RR
MtA15 5 5 G
positive
Family
screening
Unidentified
negative
genetic defect
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
STOP
fail
AABR
pass
STOP
fail
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
Armenia
Australia +++
Brazil
Bulgaria
Canada +++
China
+
Cuba
++
India
Indonesia
Israel
++++
FEW
ATTEMPTS
PI
FEW
ATTEMPTS
PI
ATTEMPTS
PI
ATTEMPTS
ATTEMPTS
I
Japan
+++
Jordan
Mexico
N. Zealand
+
Palestinian Authority
Russia
+
Serbia&Montenegro
Singapore
+
South Africa
+
South Korea
Turkey
+
PI
ATTEMPTS
ATTEMPTS
PI
ATTEMPTS
FEW
ATTEMPTS
FEW
FEW
ATTEMPTS
FEW
NHS Conferences
800
725
700
550
600
440
500
400
300
200
100
0
295
190
182
235
Delegates
Presentations
97
1998
2000
2002
2004
31
WWW.NHS2006.POLIMI.IT