Table 2 PKAN clinical history and pathway to diagnosis
From: Diagnostic and clinical experience of patients with pantothenate kinase-associated neurodegeneration
Characteristic | All patients (N = 39) | Lowest (n = 9) | Second Lowest (n = 10) | Third Lowest (n = 10) | Highest (n = 10) | P-valuea |
|---|---|---|---|---|---|---|
Presenting symptoms of PKAN, n (%)b | ||||||
Walking difficulty | 27 (69.2%) | 3 (33.3%) | 6 (60.0%) | 8 (80.0%) | 10 (100%) | 0.0127 |
Speech | 12 (30.8%) | 1 (11.1%) | 5 (50.0%) | 2 (20.0%) | 4 (40.0%) | 0.2296 |
Swallowing | 2 (5.1%) | 1 (11.1%) | 1 (10.0%) | 0 (0.0%) | 0 (0.0%) | 0.5259 |
Writing | 9 (23.1%) | 4 (44.4%) | 3 (30.0%) | 0 (0.0%) | 2 (20.0%) | 0.1306 |
Emotional/behavioral problems | 6 (15.4%) | 3 (33.3%) | 1 (10.0%) | 1 (10.0%) | 1 (10.0%) | 0.4080 |
Other problems | 19 (48.7%) | 4 (44.4%) | 6 (60.0%) | 6 (60.0%) | 3 (30.0%) | 0.4776 |
Dystonia at PKAN presentation, n (%)b | 6 (15.4%) | 2 (22.2%) | 2 (20.0%) | 1 (10.0%) | 1 (10.0%) | 0.8176 |
Dystonia: mouth/tongue | 4 (10.3%) | 2 (22.2%) | 1 (10.0%) | 0 (0.0%) | 1 (10.0%) | |
Dystonia: neck | 1 (2.6%) | 0 (0.0%) | 0 (0.0%) | 0 (0.0%) | 1 (10.0%) | |
Dystonia: hand | 6 (15.4%) | 2 (22.2%) | 2 (20.0%) | 1 (10.0%) | 1 (10.0%) | |
Dystonia: foot | 2 (5.1%) | 1 (11.1%) | 0 (0.0%) | 0 (0.0%) | 1 (10.0%) | |
Dystonia: back/trunk | 3 (7.7%) | 1 (11.1%) | 1 (10.0%) | 0 (0.0%) | 1 (10.0%) | |
Dystonia: other | 2 (5.1%) | 1 (11.1%) | 0 (0.0%) | 0 (0.0%) | 1 (10.0%) | |
Age at onset, y | n = 38/39 | n = 9/10 | 0.0007 | |||
Mean (SD) | 8.0 (5.8) | 12.7 (4.3) | 9.4 (5.5) | 7.3 (5.2) | 2.9 (3.8) | |
Median | 7.0 | 14.0 | 10.0 | 7.0 | 1.0 | |
Range (min, max) | (< 1.0–20.0) | (7.0–20.0) | (1.0–18.0) | (1.0–16.0) | (< 1.0–12.0) | |
Problem leading to first doctor visit, n (%) | n = 36/39 | n = 8/9 | n = 9/10 | n = 9/10 | ||
Same as “first symptom” | 22 (56.4%) | 5 (55.6%) | 5 (50.0%) | 7 (70.0%) | 5 (50.0%) | |
Other | 14 (35.9%) | 3 (33.3%) | 4 (40.0%) | 2 (20.0%) | 5 (50.0%) | |
MRI, n (%) | 0.3953 | |||||
Yes | 38 (97.4%) | 9 (100%) | 10 (100%) | 10 (100%) | 9 (90.0%) | |
No | 1 (2.6%) | 0 (0.0%) | 0 (0.0%) | 0 (0.0%) | 1 (10.0%) | |
Age at first MRI, y | n = 36/38 | n = 8/9 | n = 9/10 | 0.0150 | ||
Mean (SD) | 10.4 (6.7) | 15.0 (6.9) | 11.5 (5.0) | 10.8 (7.8) | 5.4 (3.8) | |
Median | 10.0 | 16.0 | 10.0 | 10.0 | 4.5 | |
Range (min, max) | (1.0–26.0) | (5.0–25.0) | (5.0–23.0) | (1.0–26.0) | (1.0–12.0) | |
Did first MRI diagnose PKAN? | n = 38/39 | n = 9/10 | 0.1005 | |||
Yes | 22 (56.4%) | 5 (55.6%) | 9 (90.0%) | 5 (50.0%) | 3 (30.0%) | |
No | 16 (41.0%) | 4 (44.4%) | 1 (10.0%) | 4 (40.0%) | 7 (70.0%) | |
Genetic testing obtained | 0.5259 | |||||
Yes | 37 (94.9%) | 8 (88.9%) | 9 (90.0%) | 10 (100%) | 10 (100%) | |
No | 2 (5.1%) | 1 (11.1%) | 1 (10.0%) | 0 (0.0%) | 0 (0.0%) | |
Age genetic testing led to PKAN diagnosis | n = 36/39 | n = 8/9 | n = 9/10 | n = 9/10 | 0.0116 | |
Mean (SD) | 12.1 (6.9) | 17.4 (4.3) | 11.9 (5.1) | 13.2 (9.7) | 7.2 (3.0) | |
Median | 10.5 | 16.0 | 10.0 | 13.0 | 7.0 | |
Range (min, max) | (4.0–36.0) | (12.0–26.0) | (5.0–23.0) | (4.0–36.0) | (4.0–12.0) | |
Age MRI diagnosed PKAN if MRI diagnosis | n = 1/22 | n = 1/5 | n = 0/9 | n = 0/5 | n = 0/3 | |
Mean (SD) | 11.0 | 11.0 | ||||
Median | 11.0 | 11.0 | ||||
Range (min, max) | (11.0–11.0) | (11.0–11.0) | ||||
Number of doctors seen prior to PKAN diagnosis | 0.4213 | |||||
Mean (SD) | 4.6 (3.5) | 5.2 (4.7) | 3.1 (3.2) | 4.5 (2.5) | 5.6 (3.6) | |
Median | 4.0 | 3.0 | 2.0 | 4.0 | 5.5 | |
Range (min, max) | (1.0–15.0) | (1.0–15.0) | (1.0–10.0) | (1.0–10.0) | (1.0–12.0) | |
Location of doctors consulted, n (%)b | ||||||
Community | 16 (41.0%) | 5 (55.6%) | 3 (30.0%) | 6 (60.0%) | 2 (20.0%) | |
Specialist center doctors | 37 (94.9%) | 7 (77.8%) | 10 (100%) | 10 (100%) | 10 (100%) | |