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2010 • Cilt: 2 • Sayı: 2 • 5-8

 

 

 

WILLIAM’S SENDROMLU HASTALARDA İŞİTMENİN DEĞERLENDİRİLMESİ

 

HEARING EVALUATION IN PATIENTS WITH WILLIAM’S SYNDROME

 

 

Bilgehan Budak1, Nuray Bayar Muluk2, Mesut Konu3, Soner Ozkan4, Ömer Faruk Ünal5

ÖZET

 

William’s Sendromu (WS), kardiyovasküler, iskelet ve maksillofasiyal anom- aliler ile karakterize nadir bir hastalıktır. WS’lu hastaların işitme problem- leri tıbbi  literatürde  detaylı olarak  belirtilmemiştir.  Bu makalede WS’lu hastaların  işitme durumu  hakkında  ayrıntılı bilgi verilmeye çalışılmıştır. Çalışmaya WS tanısı konulan 9 hasta alınmıştır. Kulak Burun Boğaz muay- enesi ve detaylı odyolojik testler  uygulanmıştır.  Efüzyonlu otitis  media (OME) en sık görülen sorundur, birlikte OME’e bağlantılı olduğu düşünülen minimal hava-kemik aralığı ve aynı zamanda yüksek frekans sensorinöral işitme kaybı görülmüştür. WS’lu hastalarda  işitme sorunları olabilir ve eğer tanı konulmazsa, bu onların konuşma gelişiminde gecikmeye neden olabilir. Kulak Burun Boğaz muayenesi ve odyolojik tetkik, WS’lu hastaların tam değerlendirilmesi için gereklidir.

Anahtar kelimeler: William’s Sendromu (WS), işitme, efüzyonlu otitis media

ABSTRACT

 

William’s syndrome (WS) is a rare disorder characterized with cardiovascu- lar, skeletal and maxillofacial anomalies. Hearing problems of patients with WS is not addressed in detail in the medical literature. This paper tries to give detailed information on hearing status of patients known to have WS. 9 pa- tients with the diagnosis of WS were included in the study. Otolaryngological examination and detailed audiological tests were performed. Otitis media with effusion (OME) is the most common problem detected, followed by minimal air-bone gap and high frequency sensorineural hearing loss which is also thought to be linked to OME. Patients with WS can have hearing prob- lems which may cause delay in their speech development if not diagnosed. Thus otolaryngology and audiology examinations are necessary for complete evaluation of patients with WS.

Key words: William’s Syndrome (WS), hearing, otitis media with effusion

 

 

INTRODUCTION

 

Williams syndrome is a rare and well-known disease caused by deletion of multiple contiguous     genes  on the long arm of one chromosome 7 (del 7q11.23). It is characterised by congenital cardiovascular anoma- lies (congenital supravalvular aortic stenosis), growth retardation  and  developmental delay, occasional in- fantile hypercalcemia and by characteristic elfin-like facial dismorphism  (strabismus, hipertelorism, short

palpebral fissures, low-set and protruding ears, micro- gnathia (1-3).

Incidence of WS is reported  between 1/20.000 –

1/50.000. There are different different criteria for diag- nosis. For definitive diagnosis of WS among patients with above mentioned findings specific FISH (fluores- cent in-situ hybridization) test is suggested. FISH test proves that there is hemizygotic submicroscopic dele- tion at 7q11.23 area in 99% of patients with WS. Thus this test is considered to be dependable to confirm

 

 

Geliş Tarihi/Received: 06/01/2010  Kabul Tarihi/Accepted: 26/03/2010

 

İletişim:

 

Dr. Nuray Bayar Muluk

Birlik Mahallesi, Zirvekent 2. Etap Sitesi, C-3 blok, No: 62/43, 06610   Çankaya / ANKARA / TURKEY

Tel: +90 312 4964073 , +90 532 7182441 Fax: +90 318  2252819 E-mail: nbayarmuluk@yahoo.com, nurayb@hotmail.com

 

1)   Asisstant professor, Audiologist and Speech Pathologist, Hacettepe University, Faculty of Medicine, Department of Otolaryngology and

Audiology

2)   Professor, Kırıkkale University, Faculty of Medicine, Department of Otolaryngology-Head and Neck Surgery, Kırıkkale, Turkey

3)   Specialist Doctor, Hacettepe University, Faculty of Medicine, Department of Pediatric Genetics

4)   Professor, Audiologist and Speech Pathologist, Hacettepe University, Faculty of Medicine, Department of Otolaryngology and Audiology

5)   Professor, Hacettepe University, Faculty of Medicine, Department of Otolaryngology Head and Neck Surgery

 

 

6       Bidder Tıp Bilimleri Dergisi

 

clinical diagnosis. Additional findings of patients with WS are hyperactivity, attention  deficit disorder, otitis media and hyperacusis. Mental retardation with IQ be- tween 41—80 and poor visuopatial skill is the behav- ioural patern seen in WS (2,4,5).

Although the visceral anomalies seen in WS are very well described; there is very little detail for otolar- yngologic and audiological studies of the patients with WS in the English literature. It is only known that pa- tients with WS have OME often and have hyperacusis (95% of the patients) (1,3,6).

In this study, 9 patients with WS are examined in detail for their otolaryngological and audiological findings, in order  to enlighten possible hearing dis- turbances attached to this syndrome which should be rehabilitated early to prevent speech and language de- velopment delay.

 

PATIENTS AND METHODS

 

In this study nine patients diagnosed to have WS using FISH test 5 of the patients were male and 4 of them were female. The mean age of them was 6.4 years (Ranged 1.6 to 13.3 years). Otolaryngological exami- nations of the patients were done. External ear canals were examined and cerumens were cleaned. Those pa-

tients with OME were treated medically. After this ex- amination, patients had their audiological evaluation using appropriate tests to their ages. Patients were test- ed using either behavioural tests, or play audiometry; tympanometry, and transient evoked otoacustic emis- sion (TEOAE) measurements. Audiological test were done using AC-40 audiometer in IAC silent rooms. Air conduction hearing levels between 125-16000 Hz; and bone conduction hearing levels between 500-4000 Hz were measured. Three of the patients were tested with play audiometry; the rest of them were evaluated with behavioural audiometry.

 

RESULTS

 

Table 1-3 shows the findings of three patients tested using play audiometry.

These three  patients  had  normal  hearing  levels. There is minimal  hearing loss at lower frequencies; minimal air-bone gap and loss of hearing level at 14 kHz of patient 3; and loss of hearing level at 16 kHz of patients 1 and 2 can be explained with the effect of OME at high frequencies.

Table 4 shows the findings of 6 patients tested using behavioural audiometry. In three patients, there was slight conductive HL in both ears.

 

 

Table 1- Otoscopic and tympanometric findings of three patients

 

Case	Year	Ear	Otoscopy	Tympanogram	Presence or Absence of Acous- tic Reflexes	Contralateral Acoustic Reflex Thresholds (dB)
						0.5 Hz	1 Hz	2 Hz	4 Hz
1	8.3	Right	OME	C	+	90	80	85	90
		Left	OME	A	+	85	80	80	85
2	10.8	Right	Normal	A	+	80	75	75	80
		Left	Normal	A	+	85	80	80	75
3	13.3	Right	Normal	A	+	90	85	80	75
		Left	Normal	A	+	85	80	75	80

 

Table 2- Air conduction hearing levels of three patients

 

	Frequencies (kHz)
Case	Ear	0.125	0.25	0.5	1.0	2.0	4.0	6.0	8.0	10.0	12.0	14.0	16.0
1	Right	25	15	20	5	10	20	15	20	15	15	30	∅
	Left	25	25	25	10	10	20	40	45	20	25	30	∅
2	Right	20	15	5	15	10	0	10	20	10	15	15	40
	Left	25	20	10	10	10	10	15	20	20	25	20	40
3	Right	15	25	20	15	10	0	15	5	10	40	∅	∅
	Left	15	15	10	15	5	15	5	5	0	15	40	∅

2010 • Cilt: 2 • Sayı: 2 • 5-8          7

 

 

 

Table 3- Bone conduction hearing levels of three patients

 

	Frequencies (kHz)
Case	Ear	0.5	1.0	2.0	4.0
1	Right	15	0	0	20
	Left	15	0	0	20
2	Right	5	15	0	0
	Left	10	10	0	0
3	Right	10	10	0	0
	Left	10	10	0	5

Table 4- The findings of six patients tested by behavioural audiometry

 

Case

Year

Otoscopy

Tymp

Presence or Absence of Acoustic Reflexes

Contralateral Acoustic Reflex Thresholds (dB)

TEO- AE

SAT

Behavioral Audiometry Diagnosis

0.5 Hz

1 Hz

2 Hz

4 Hz

1

3.9

Right

OME

B

∅

∅

∅

∅

∅

∅

40-50

Slight conductive HL

Left

OME

B

∅

∅

∅

∅

∅

∅

40-45

Slight conductive HL

2

5.8

Right

OME

As

+

80

75

75

80

+

0

Normal

Left

OME

As

+

85

75

80

80

+

5

Normal

3

5.9

R

OME

As

+

90

85

85

80

∅

10

Normal

L

OME

As

+

95

90

90

85

∅

15

Normal

4

3.8

R

Sclerotic ear drum

As

+

95

85

80

80

∅

10

Normal

L

Sclerotic ear drum

As

+

100

90

85

85

∅

15

Normal

5

4.9

R

OME

B

∅

∅

∅

∅

∅

∅

20

Slight conductive HL

L

OME

As

∅

∅

∅

∅

∅

∅

25

Slight conductive HL

6

1.6

R

OME

B

∅

∅

∅

∅

∅

∅

20

Slight conductive HL

L

OME

B

∅

∅

∅

∅

∅

∅

25

Slight conductive HL

 

DISCUSSION

 

Common  otolaryngological findings  of  patients with WS are hyperacusis and OME. The most disturb- ing complaint is hyperacusis and is seen in 95% of the patients with WS. According to Klein (7), OME is seen among 61% of the patients with WS possibly due to congenital tubal dysfunction. However there is very little study in the English literature to search the reason for this frequent occurence of OME in patients with WS, possibly because of importance of other visceral anomalies.

In a study conducted with a questionaire by Klein

(7) et al; it is found that there is high incidence of OME

in patients with WS when compared to controls. But in the same study there was no permanent hearing loss in children with WS.

The cranio-facial anomalies such a medial eyebrow flare, decreased inter orbital distance, protrusion of the maxilla and recession of the mandible and abnormal dentition suggest that there may be additional abnor- malities in pharyngeal structure and/or physiology af- fecting Eustachian tube function. This can be precursor to OM. Study of Eustachian tube and immune system in childs with WS may identify the cause of the OM problem (2,4,5).

In the present study, otoscopic examination of 9 pa- tients revealed only 2 normal ear drum; and the rest of

8       Bidder Tıp Bilimleri Dergisi

 

the patients had either OME or sequel of OME. Tym- panometric examination of the patients (9 patients and

18 ears) showed 5 ears with type A, 7 ears with type As, 1 ear with type C and 5 ears with type B tympano- grams. These findings correlated with otoscopy.

In a study by Johnson, et al.(8), TEOAEs of patients with WS were not recorded and this was thought to be due to sensorineural hearing loss. In this study TEO- AE was recorded in only 1