audiology in norrie disease: research and hearing aids

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

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Apex Base

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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

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50

60

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80

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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

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1020

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Apex Base

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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

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StriaVasc

Neur-ons

Apex Base

0

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Neur-ons

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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!)

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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