Chris Halpin, Ph.D.
MassachusettsEye and EarInfirmary
Harvard MedicalSchool
August 14, 2009
First International
Norrie Disease Association Conference 2009:
AUDIOLOGY IN NORRIE DISEASE:RESEARCH
AND HEARING AIDS
Word Recognition:Right: 86% Left: 80%
AUDIOLOGY TESTING:
Word Recognition:Right: 86% Left: 80%
AUDIOLOGY TESTING: AUDIOGRAM
FREQUENCY
LO
UD
NE
SS
AUDIOLOGY TESTING:
AUDIOLOGY TESTING:
PURE TONE: 250 Hz
AUDIOLOGY TESTING:
PURE TONE: 250 Hz
LEVEL: 70 dBHL:
AUDIOLOGY TESTING:
PURE TONE: 250 Hz
LEVEL: 70 dBHL:
symbol
AUDIOLOGY TESTING:
PURE TONE: 250 Hz
LEVEL: 70 dBHL:
NORMAL RANGE
f lat
Word Recognition:Right: 86% Left: 80%
AUDIOLOGY TESTING:
“You will say…DOG”
Percent Correct
Word Recognition:Right: 86% Left: 80%
AUDIOLOGY TESTING: NORRIE DISEASE
Parving.gene.60%tb
0
1020
30
40
50
60
70
80
90
100
110
IHC
OHC
StriaVasc
Neur-ons
Apex Base
0
10
20
30
40
50
60
70
80
90
100
110
IHC
OHC
StriaVasc
Neur-ons
0
1020
30
40
50
60
70
80
90
100
110
IHC
OHC
StriaVasc
Neur-ons
Apex Base Apex Base
FREQUENCY62.5 125 250 500 1K 2K 4K 8K 16K 62.5 125 250 500 1K 2K 4K 8K 16K 62.5 125 250 500 1K 2K 4K 8K 16K
FREQUENCY FREQUENCY
NEURONS OUTER HAIR CELLS STRIA VASCULARIS
88% 44% 80%
A B C
@Temporal.are.moredata
60
Age14
Age40
Age58
%C
orre
ct
Speech Level dBHL
%C
orre
ct
Speech Level dBHL
%C
orre
ct
Speech Level dBHL
Case A
Case B
Case C
You.sp.box
Age14
Age40
Age58
%C
orre
ct
Speech Level dBHL
%C
orre
ct
Speech Level dBHL
%C
orre
ct
Speech Level dBHL
Case A
Case B
Case C
EARLY
MIDDLE
LATE
end
2000 Hz THRESHOLDS BY AGE
0102030405060708090
100
0 10 20 30 40 50 60 70
Age in Years
dB
HL
U.S. Costa Rica
WORD RECOGNITION BY AGE
0102030405060708090
100
0 10 20 30 40 50 60 70
Age in Years
Per
cen
t C
orr
ect
Axes.
2000 Hz THRESHOLDS BY AGE
0102030405060708090
100
0 10 20 30 40 50 60 70
Age in Years
dB
HL
U.S. Costa Rica
WORD RECOGNITION BY AGE
0102030405060708090
100
0 10 20 30 40 50 60 70
Age in Years
Per
cen
t C
orr
ect
axes.2.asy.outly.sp
AGE 7
%C
orre
ct
Speech Level dBHL
Speech Level dBHL
%C
orre
ct%
Cor
rect
Speech Level dBHL
AGE 14
AGE 20
20yr
010
20304050
60708090
100110120
0 5 10 15 20 25 30
Left 2KHz
Right 2KHz
0
10
20
30
40
50
60
70
80
90
100
0 5 10 15 20 25 30
Left Word %
Right Word %
Threshold at 2000 Hz.
Word Recognition
Age In Years
Age In Years
dB
HL
Per
cen
t C
orr
ect
Thanks.19
010
20304050
60708090
100110120
0 5 10 15 20 25 30
Left 2KHz
Right 2KHz
0
10
20
30
40
50
60
70
80
90
100
0 5 10 15 20 25 30
Left Word %
Right Word %
Threshold at 2000 Hz.
Word Recognition
Age In Years
Age In Years
dB
HL
Per
cen
t C
orr
ect
2000 Hz THRESHOLDS BY AGE
0102030405060708090
100
0 10 20 30 40 50 60 70
Age in Years
dB
HL
U.S. Costa Rica
WORD RECOGNITION BY AGE
0102030405060708090
100
0 10 20 30 40 50 60 70
Age in Years
Per
cen
t C
orr
ect
2000 Hz THRESHOLDS BY AGE
0102030405060708090
100
0 10 20 30 40 50 60 70
Age in Years
dB
HL
U.S. Costa Rica
WORD RECOGNITION BY AGE
0102030405060708090
100
0 10 20 30 40 50 60 70
Age in Years
Per
cen
t C
orr
ect
Import.yr
0
1020
30
40
50
60
70
80
90
100
110
IHC
OHC
StriaVasc
Neur-ons
Apex Base
0
10
20
30
40
50
60
70
80
90
100
110
IHC
OHC
StriaVasc
Neur-ons
0
1020
30
40
50
60
70
80
90
100
110
IHC
OHC
StriaVasc
Neur-ons
Apex Base Apex Base
FREQUENCY62.5 125 250 500 1K 2K 4K 8K 16K 62.5 125 250 500 1K 2K 4K 8K 16K 62.5 125 250 500 1K 2K 4K 8K 16K
FREQUENCY FREQUENCY
NEURONS OUTER HAIR CELLS STRIA VASCULARIS
88% 44% 80%
A B C
Read.aud
Early Stria Vascularis Pathology in the ND Cochlea
NorrieDiseaseMouse
(3 months)
ControlMouse
(3 months)
0
1020
30
40
50
60
70
80
90
100
110
IHC
OHC
StriaVasc
Neur-ons
Apex Base
0
10
20
30
40
50
60
70
80
90
100
110
IHC
OHC
StriaVasc
Neur-ons
0
1020
30
40
50
60
70
80
90
100
110
IHC
OHC
StriaVasc
Neur-ons
Apex Base Apex Base
FREQUENCY62.5 125 250 500 1K 2K 4K 8K 16K 62.5 125 250 500 1K 2K 4K 8K 16K 62.5 125 250 500 1K 2K 4K 8K 16K
FREQUENCY FREQUENCY
NEURONS OUTER HAIR CELLS STRIA VASCULARIS
88% 44% 80%
A B C
5656
Formula.SII
5656
@90 dBHL pred.=94% (.6 AI), act.=84% (.4 AI); loss (.2) / info (.6) = 33%
@70 dBHL pred.=67% (.3 AI), act.=40% (.2 AI); loss (.1) / info (.3) = 33%
STRIA OUTER HAIR CELLS
apply ha.@
STRIA OUTER HAIR CELLS
apply ha
In 2008, about 1.4 Million PeopleBought 2.4 Million Hearing AidsThey Are Now $1500 - $3500 each; 5B
About 31 Million Americans “Have Hearing Loss”And 7 Million Have Bought Hearing Aids
About Half Are “Satisfied” Many Do Not Wear
Hearing Aids Have a Bad ReputationWhich Is Addressed With Anecdotes of Success, Promises of New Technology
HEARING AIDS
In 2007, about 1.4 Million PeopleBought 2.4 Million Hearing AidsThey Are Now $1500 - $3500 each; 5B
About 31 Million Americans “Have Hearing Loss”And 7 Million Have Bought Hearing Aids
About Half Are “Satisfied” Many Do Not Wear
Hearing Aids Have a Bad ReputationWhich Is Addressed With Anecdotes of Success, Promises of New Technology
HEARING AIDS
Making Sound Loud:
Whisper Talk Yell
Words
Benefit: Improved Word Recognition
axes
Making Sound Loud:
Whisper Talk Yell
Words
Benefit: Improved Word Recognition
axes
Making Sound Loud:
Whisper Talk Yell
Words
Benefit: Improved Word Recognition
Benefit: Improvement With Level
Making Sound Loud:
Whisper Talk Yell
Cochlea
Match means
Making Sound Loud:
Whisper Talk Yell
Cochlea
Loud.axis
Making Sound Loud:
Whisper Talk Yell
Cochlea
Action of Aid
Making Sound Loud:
Whisper Talk Yell
Cochlea
Action of Aid
Ben
efit
@another
Making Sound Loud:
Whisper Talk Yell
Cochlea
Why.drawer.diff.fail
Making Sound Loud:
Whisper Talk Yell
Cochlea
Making Sound Loud:
Whisper Talk Yell
Cochlea
Making Sound Loud:
Whisper Talk Yell
Cochlea
?
Hasloss.@notNor
Making Sound Loud:
Whisper Talk Yell
Cochlea
Action of Aid
Ben
efit
Nor
Making Sound Loud:
Whisper Talk Yell
Cochlea
Ben
efit
Nor
Word Improvement Limits:
Limit.apply.todig
O
DIGITAL HEARING AIDS...
kates
O
DIGITAL HEARING AIDS...
Same.limits
O
DIGITAL HEARING AIDS...
Are Not Louder...
Are Not Smaller...
Are Not Clearer...
They Are More Flexible(More Features)
Receiver(Speaker)
Receiver In The Canal(RITE)
SlimTube(Open Fit)
Slim-Tube v. Receiver In The Canal
Why.tiny
Receiver(Speaker)
upgrade
Receiver(Speaker)
“So, Can you make it too loud with no whistle?”
advice
“So, Can you make it too loud with no whistle?”
Mine doesn’t have a volume control...
“So, Can you make it too loud with no whistle?”
“It’s Whistling...That’s how I know it’s too loud.”
(WRONG)
That’s how we knowIt’s too limited.
“So, Can you make it too loud with no whistle?”
“It’s Whistling...That’s how I know it’s too loud.”
(WRONG)
That’s how we knowIt’s too limited.
“So, Can you make it too loud with no whistle?”
People’s voices are too loud (Jackpot!)
“So, Can you make it too loud with no whistle?”
“I don’t like it, but it’s easier to hear people”
“I turn it down a little so it doesn’t drive me crazy” (OK)
Hearing aids should be loud… to reduce the workload of communicating.
People’s voices are too loud (Jackpot!)
0
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IHC
OHC
StriaVasc
Neur-ons
Apex Base
0
10
20
30
40
50
60
70
80
90
100
110
IHC
OHC
StriaVasc
Neur-ons
0
1020
30
40
50
60
70
80
90
100
110
IHC
OHC
StriaVasc
Neur-ons
Apex Base Apex Base
FREQUENCY62.5 125 250 500 1K 2K 4K 8K 16K 62.5 125 250 500 1K 2K 4K 8K 16K 62.5 125 250 500 1K 2K 4K 8K 16K
FREQUENCY FREQUENCY
NEURONS OUTER HAIR CELLS STRIA VASCULARIS
88% 44% 80%
A B C
National Temporal Bone Donor Program
• Enlists people with otologic disorders to become temporal bone donors
• Registry arranges the pledge, obtains medical records, and updates records periodically
Thank You...
Carrier,Age 68
Age44
Age38
%C
orre
ct
Speech Level dBHL
%C
orre
ct
Speech Level dBHL
Speech Level dBHL
%C
orre
ctCase E
Case D
Case F
Anecdotes:
at start
Anecdotes:
“I tried the new Zipzip 440and they loved it”
“This thing is no good. You ripped me off...”
“I baked you these cookies...”
dif is coch calc
“So, Can you make it too loud with no whistle?”
Is It On? I guess so...
Is It Too Loud? No...
unclear
Left 88%Right 72%
Age 14
Left 84%Right 72%
Speaker 100%
Age 7
Age 25
Distortion Product Otoacoustic Emissions: Age 14
-20
-10
0
10
20
1000 2000 3000 4000 5000 6000
Geometric Mean of F1 and F2
dB S
PL
Noise L
DP L
Noise R
DP R
Left 24%Right 40%
Similar Genes, Age 48