Table 1.
Correlation between genetic and clinical findings
| Clinical findings | Genetic findings (negative, n = 85; heterozygous, n = 9; homozygous, n = 6) |
||||||
|---|---|---|---|---|---|---|---|
| right ear |
left ear |
||||||
| negative | heterozygous | homozygous | negative | heterozygous | homozygous | ||
| Degree of hearing loss (PTA) | |||||||
| Mild to moderately severe | 9 (10.6) | 2 (22.2) | 0 (0.0) | 11 (12.9) | 2 (22.2) | 0 (0.0) | |
| Mild to severe | 3 (3.5) | 3 (33.3) | 0 (0.0) | 4 (4.7) | 1 (11.1) | 0 (0.0) | |
| Mild to profound | 1 (1.2) | 0 (0.0) | 0 (0.0) | 1 (1.2) | 0 (0.0) | 0 (0.0) | |
| Moderately Severe | 22 (25.9) | 3 (33.3) | 0 (0.0) | 17 (20.0) | 4 (44.4) | 0 (0.0) | |
| Moderately severe to profound | 5 (5.9) | 0 (0.0) | 0 (0.0) | 7 (8.2) | 0 (0.0) | 0 (0.0) | |
| Severe to Profound | 45 (52.9) | 1 (11.1) | 6 (100) | 45 (52.9) | 2 (22.2) | 6 (100) | |
| p = 0.013 | p = 0.337 | ||||||
| Acoustic reflex threshold | |||||||
| 1. Ipsilateral | |||||||
| Preserved all | 8 (9.4) | 3 (33.3) | 0 (0.0) | 6 (7.1) | 2 (22.2) | 0 (0.0) | |
| Preserved low/absent high | 1 (1.2) | 0 (0.0) | 0 (0.0) | 3 (3.5) | 0 (0.0) | 0 (0.0) | |
| Absent low/preserved high | 1 (1.2) | 0 (0.0) | 0 (0.0) | 1 (1.2) | 0 (0.0) | 0 (0.0) | |
| Elevated all | 5 (5.8) | 2 (22.2) | 0 (0.0) | 4 (4.7) | 2 (22.2) | 0 (0.0) | |
| Absent all | 70 (82.4) | 4 (44.4) | 6 (100) | 71 (83.5) | 5 (55.6) | 6 (100) | |
| p = 0.099 | p = 0.332 | ||||||
| 2. Contralateral | |||||||
| Preserved all | 6 (7.1) | 2 (22.2) | 0 (0.0) | 7 (8.2) | 2 (22.2) | 0 (0.0) | |
| Preserved low/absent high | 1 (1.2) | 0 (0.0) | 0 (0.0) | 1 (1.2) | 1 (11.1) | 0 (0.0) | |
| Absent low/preserved high | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | |
| Elevated all | 6 (7.1) | 2 (22.2) | 0 (0.0) | 8 (9.4) | 2 (22.2) | 0 (0.0) | |
| Absent all | 72 (84.6) | 5 (55.6) | 6 (100) | 69 (81.2) | 4 (44.4) | 6 (100) | |
| p = 0.250 | p = 0.095 | ||||||
| ABR response | |||||||
| Elevated | 30 (35.3) | 5 (55.6) | 0 (0.0) | 27 (31.8) | 5 (55.6) | 0 (0.0) | |
| Absent | 55 (64.7) | 4 (44.4) | 6 (100) | 58 (68.2) | 4 (44.4) | 6 (100) | |
| p = 0.086 | p = 0.077 | ||||||
| TEOAE | |||||||
| Pass | 0 (0) | 0 (0.0) | 0 (0.0) | 0 (0) | 0 (0.0) | 0 (0.0) | |
| Fail | 85 (100) | 9 (100) | 6 (100) | 85 (100) | 9 (100) | 6 (100) | |
| p = 0.05 | p = 0.05 | ||||||
| Tympanogram | |||||||
| A | 60 (70.6) | 6 (66.7) | 5 (83.3) | 53 (62.3) | 8 (88.9) | 6 (100) | |
| B | 7 (8.2) | 0 (0.0) | 0 (0.0) | 8 (9.4) | 0 (0.0) | 0 (0.0) | |
| C | 10 (11.8) | 2 (22.2) | 1 (16.7) | 13 (15.3) | 1 (11.1) | 0 (0.0) | |
| As | 1 (1.2) | 1 (11.1) | 0 (0.0) | 5 (5.9) | 0 (0.0) | 0 (0.0) | |
| Ad | 7 (8.2) | 0 (0.0) | 0 (0.0) | 6 (7.1) | 0 (0.0) | 0 (0.0) | |
| p = 0.482 | p = 0.62 | ||||||
| Patient characteristics | Negative | Heterozygous | Homozygous | p value | ||
|---|---|---|---|---|---|---|
| Male | 41 (48.2) | 2 (22.2) | 4 (66.7) | 0.202 | ||
| Female | 44 (51.8) | 7 (77.8) | 2 (33.3) | |||
| Age | ||||||
| <6 years | 36 (42.4) | 4 (44.4) | 1 (16.7) | 0.559 | ||
| 6–10 years | 31 (36.5) | 3 (33.3) | 2 (33.3) | |||
| >10 years | 18 (21.1) | 2 (22.2) | 3 (50.0) | |||
| Family history | ||||||
| Familial | 44 (51.8) | 7 (77.8) | 6 (100) | 0.029 | ||
| Sporadic | 41 (48.2) | 2 (22.2) | 0 (0.0) | |||
| Course of hearing loss | ||||||
| Rapidly progressive | 53 (62.4) | 3 (33.3) | 6 (100) | 0.033 | ||
| Slowly progressive | 32 (37.6) | 6 (66.6) | 0 (0) | |||
| Onset of hearing loss | ||||||
| Prelingual | 61 (71.8) | 3 (33.3) | 6 (100) | 0.015 | ||
| Postlingual | 24 (28.2) | 6 (66.7) | 0 (0.0) |
| Configuration of hearing loss | Positive (n= 30) | Negative (n = 170) | ||||
|---|---|---|---|---|---|---|
| Flat | 14 (46.66) | 134 (78.82) | ||||
| High frequency | 2 (6.66) | 13 (7.65) | ||||
| Saucer shape | 4 (13.33) | 5 (2.94) | ||||
| Steeply sloping | 4 (13.33) | 9 (5.29) | ||||
| Left corner | 4 (13.33) | 9 (5.29) | ||||
| Islands | 2 (2.66) | 0 (0.00) | ||||
| p = 0.001 | ||||||
Values in parentheses are percentages.