Table 1.
Characteristic | n (%) |
---|---|
Clinical signs during neonatal period | |
Petechiae/purpura | 55 (72) |
Jaundice | 30 (39) |
Hepatosplenomegaly | 38 (50) |
Seizures | 5 (7) |
Small for gestational age | |
Physician clinical assessment at birth | 28 (37) |
Birth weight <10th percentile* | 44 (58) |
Microcephaly | |
Physician clinical assessment at birth | 31 (41) |
Head circumference ≤3rd percentile* (n=73) | 25 (34) |
Head circumference ≤10th percentile* (n=73) | 37 (51) |
Laboratory abnormalities | |
Elevated alanine transaminase (>100 IU) (n=70) | 12 (17) |
Thrombocytopenia (Platelet count <75,000/mm3) (n=71) | 50 (70) |
Hyperbilirubinemia (Total bilirubin > 3mg/dl) (n=74) | 28 (38) |
Hemolytic anemia | 3 (4) |
| |
Head CT findings (n=73) | |
Intracranial calcifications | 43 (59) |
Ventricular dilatation | 40 (55) |
White matter lucency | 20 (27) |
Any abnormal finding | 62 (85) |
Broad categories | |
Tissue destruction | 49 (67) |
Attenuated growth | 21 (29) |
Dysplastic growth | 6 (8) |
| |
Neurodevelopmental outcomes (n=72) | |
Intellectual disability | 31 (43) |
Borderline intelligence | 12 (17) |
Normal intelligence | 29 (40) |
| |
Hearing outcomes | |
SNHL | 56 (74) |
Normal hearing | 20 (26) |
SNHL onset (n=56) | |
Congenital/early-onset SNHL | 44 (79) |
Delayed-onset SNHL | 12 (21) |
Laterality (n=56) | |
Bilateral SNHL | 47 (84) |
Unilateral SNHL | 9 (16) |
Severity (n=47) ** | |
≥ 25 dB in isolated frequency | 1 (2) |
Slight (16 – 25 dB) | 5 (11) |
Mild (26 – 40 dB) | 2 (4) |
Moderate (41 – 55 dB) | 4 (9) |
Moderately severe (56 – 70 dB) | 1 (2) |
Severe (71 – 90 dB) | 7 (15) |
Profound (>90 dB) | 27 (57) |
| |
Ophthalmic abnormalities | |
Astigmatism | 22 (29) |
Strabismus | 19 (25) |
Nystagmus | 11 (14) |
Amblyopia | 3 (4) |
Chorioretinitis | 19 (25) |
Optic nerve atrophy | 9 (12) |
Any ophthalmic abnormality | 39 (51) |
| |
Vision outcomes (n=66) | |
Normal vision | 44 (67) |
Mild/moderate vision impairment | 8 (12) |
Low vision | 4 (6) |
Legal blindness | 10 (15) |
Based on Olsen’s intrauterine growth charts
Better-hearing ear at the last assessment