Table 1.
Characteristics of patients monitored in a pediatric department
| Characteristics | Patients Overall n = 54 |
Patients ≥ 15 < 21 years old n = 41 |
Patients ≥ 21 years old n = 13 |
|---|---|---|---|
| Gender, male n (%) | 34/54 (63.0%) | 23/41 (56.1%) | 11/13 (84.6%) |
| Disease | |||
| Mucopolysaccharidosis | 35/53 (66.0%) | 25/41 (61.0%) | 10/12 (83.4%) |
| Gaucher type 1 | 6/53 (11.3%) | 5/41 (12.2%) | 1/12 (8.3%) |
| Alpha mannosidosis | 3/53 (5.7%) | 3/41 (7.3%) | – |
| Fucosidosis | 2/53 (3.8%) | 2/41 (4.9%) | – |
| Metachromatic leukodystrophy | 2/53 (3.8%) | 1/41 (2.4%) | 1/12 (8.3%) |
| Others (Fabry, gangliosidosis, Danon, cholesteryl ester storage disease, Niemann-Pick type B: n = 1 each) | 5/53 (9.4%) | 5/41 (12.2%) | – |
| Other patient characteristics | |||
| Chronic pain | 18/52 (34.6%) | 14/40 (35.0%) | 4/12 (33.3%) |
| Orthosis need | 8/51 (15.7%) | 8/39 (20.5%) | 0/12 (0.0%) |
| Mechanical respiratory | 12/53 (22.6%) | 10/40 (25.0%) | 2/13 (15.4%) |
| Mobility assistance | 23/54 (42.9%) | 20/41 (48.8%) | 3/13 (23.1%) |
| Disability* | 40/54 (74.1%) | 30/41 (73.2%) | 10/13 (76.9%) |
| Hospitalization or surgery in the last 6 months or planned in the next 12 months | 14/54 (25.9%) | 13/41 (31.7%) | 1/13 (7.7%) |
| Treatment by/for | |||
| Enzyme replacement therapy | 34/53 (64.1%) | 25/41 (61.0%) | 9/12 (75.0%) |
| Epilepsy | 10/54 (18.5%) | 9/41 (21.9%) | 1/13 (7.7%) |
| Sleeping disorders | 4/54 (7.4%) | 4/41 (9.7%) | 0/13 (0.0%) |
| Spasticity | 2/54 (3.7%) | 1/41 (2.4%) | 1/13 (7.7%) |
| Tremor | 2/54 (3.7%) | 2/41 (4.8%) | 0/13 (0.0%) |
| Transplantation: | 9/53 (17.0%) | 7/40 (17.5%) | 2/13 (15.4%) |
| Heart | 1/9 (11.1%) | 1/7 (14.3%) | 0/2 (0.0%) |
| Bone marrow | 8/9 (88.9%) | 6/7 (85.7%) | 2/2 (100.0%) |
*Difficulty with at least one of the following: hearing/sight/speech/writing/attention/memory/learning/comprehension