Table 1 Demographic data
From: Clinical, genetic and quality-of-life study of a cohort of adult patients with tuberous sclerosis
Demographic data (N = 57) | |
|---|---|
Age at diagnosis, n (%) | |
Adult | 26 (45.6%) |
Childhood | 28 (49.12%) |
Sex, n (%) | |
Woman | 30 (52.6%) |
Man | 27 (47.4%) |
Mean age | 41.96 (SD ± 14.4) |
Reason for referral | |
Multidisciplinary consultation | 40 (70.2%) |
Affected family member | 13 (22.8%) |
Transition to adulthood | 4 (7%) |
Family affected | 22 (38.59%) |
Genetic study, n (%) | 44 (77.2%) |
No mutation | 4 (9%) |
TSC1 | 11 (25%) |
TSC2 | 21 (47.8%) |
Mutation of uncertain significance | 8 (18.2%) |