Table 2.
Patient characteristics and causes of death in the neuronopathic and non-neuronopathic groups.
| Neuronopathic Group (n = 100) | Non-neuronopathic Group (n = 51) | |
|---|---|---|
| Male | ||
| n (%) | 99 (99.0) | 50 (98.0) |
| Age at Onset of Symptoms, years | ||
| n | 92 | 47 |
| Median (P10, P90) | 1.5 (0.3, 3.0) | 2.0 (0.3, 4.5) |
| Mean (SD) | 1.5 (1.04) | 2.2 (1.65) |
| Age at Diagnosis, years | ||
| n | 97 | 50 |
| Median (P10, P90) | 3.0 (1.4, 5.3) | 4.0 (1.0, 7.4) |
| Mean (SD) | 3.2 (1.53) | 4.1 (2.41) |
| Age at Last Visit, years | ||
| n | 100 | 51 |
| Median (P10, P90) | 15.7 (12.0, 19.9) | 17 (12.6, 21.5) |
| Mean (SD) | 15.8 (3.03) | 17.0 (3.24) |
| Age at First Cognitive Impairment Assessment, years | ||
| n | 100 | 51 |
| Median (P10, P90) | 4.7 (1.8, 9.7) | 6.9 (3.6, 10.2) |
| Mean (SD) | 5.1 (2.92) | 6.9 (2.61) |
| Age at ERT Start, years | ||
| n | 94 | 47 |
| Median (P10, P90) | 6.5 (2.9, 10.1) | 6.7 (2.7, 9.2) |
| Mean (SD) | 6.6 (2.60) | 6.4 (2.68) |
| Functional Classification by Clinical Impression at Last Visit | ||
| n | 74 | 41 |
| Normal (IQ >70), n (%) | 2 (2.7) | 39 (95.1) |
| Mild/Moderate (IQ 30–70), n (%) | 22 (29.7) | 2 (4.9) |
| Severe/Profound (IQ <30), n (%) | 50 (67.6) | 0 (0.0) |
| Patients receiving ERT, n (%) | 94 (94.0) | 47 (92.2) |
| Number of Different Types of Procedures per Patienta | ||
| n | 88 | 49 |
| Median (P10, P90) | 3 (1, 6) | 3 (1, 7) |
| Total Number of Procedures per Patienta | ||
| n | 88 | 49 |
| Median (P10, P90) | 4 (1, 10) | 5 (2, 11) |
| Age at First Procedure, yearsa | ||
| n | 86 | 45 |
| Median (P10, P90) | 2.5 (0.2, 6.8) | 2.2 (0.2, 5.1) |
| Mean (SD) | 3.0 (2.52) | 2.5 (1.95) |
| Deceased, n (%) | 47 (47.0) | 1 (2.0) |
| Cause of Death, n (%) | ||
| Respiratory Failure | 15 (31.9) | 0 (0.0) |
| Cardiac Failure | 8 (17.0) | 0 (0.0) |
| Cardiorespiratory Failure | 6 (12.8) | 0 (0.0) |
| Infection | 6 (12.8) | 1 (100) |
| Renal Failure | 1 (2.1) | 0 (0.0) |
| Status Epilepticus or Seizure | 1 (2.1) | 0 (0.0) |
| Multiple Organ Failure | 1 (2.1) | 0 (0.0) |
| Unknown | 9 (19.1) | 0 (0.0) |
a
Only procedures performed before patients' 10th birthdays were included. ERT, enzyme replacement therapy; IQ, intelligence quotient; P10, 10th percentile; P90, 90th percentile; SD, standard deviation.