Table 1 Demographics and age at diagnosis of all patients at enrolment
Characteristic | n (%) | Mean (SD) | Median (range) |
|---|---|---|---|
Overall patient population (n = 163) | |||
Gender, male: female | 84 (51.5): 79 (48.5) | – | – |
Age at enrolment (yrs) | 163 | 19.6 (13.0) | 17.1 (0.9–64.1) |
Patients with neurological manifestations (n =146) | |||
Age at neurological onset (yrs): | 145* | 10.9 (9.8) | 7.4 (0–48.0) |
Early infantile (<2 yrs) | 16 (11) | 0.8 (0.6) | 1.0 (0–1.6) |
Late infantile (2 – <6 yrs) | 45 (31) | 4.2 (1.3) | 4.5 (2.0–6.0) |
Juvenile (6 – <15 yrs) | 45 (31) | 9.7 (2.8) | 9.2 (6.0–14.8) |
Adolescent/adult (≥15 yrs) | 39 (27) | 24.0 (8.9) | 20.9 (15.0–48.0) |
Age at diagnosis (yrs): | 140†| 15.0 (12.2) | 12.8 (0.1–53.9) |
Early infantile (<2 yrs) | 16 (12)‡ | 1.0 (1.0) | 0.8 (0.1–4.0) |
Late infantile (2 – <6 yrs) | 43 (31)‡ | 8.2 (7.4) | 6.1 (0.1–33.1) |
Juvenile (6 – <15 yrs) | 41 (30)‡ | 13.8 (5.0) | 13.0 (0.4–26.6) |
Adolescent/adult (≥15 yrs) | 39 (28)‡ | 29.7 (10.0) | 28.1 (14.4–53.9) |
Patients with no neurological manifestations (n = 5) | |||
Age at enrolment (yrs) | 5 (3) | 15.9 (14.6) | 11.4 (4.3–40.9) |
Age at diagnosis (yrs) | 4 (2)# | 12.4 (16.8) | 5.3 (1.9–37.3) |
History of systemic symptoms: | |||
Neonatal jaundice, present | 2 (40) | – | – |
Hepatomegaly during infancy, present | 1 (20) | – | – |
Splenomegaly during infancy, present | 2 (40) | – | – |