Table 1 Participant Characteristics (N = 116)
From: Leigh syndrome global patient registry: uniting patients and researchers worldwide
Sex n (%) | |
Female | 54 (46.55) |
Male | 54 (46.55) |
Not reported | 8 (6.90) |
Race n (%) | |
White | 90 (77.59) |
Other/Unknown/Not reported | 17 (14.66) |
Asian–Indian | 3 (2.59) |
Pacific Islander–Other | 2 (1.72) |
American Indian or Alaska Native | 1 (0.86) |
Asian–Korean, White | 1 (0.86) |
Black or African American | 1 (0.86) |
Black or African American, White | 1 (0.86) |
Alive at the time of survey submission | |
Yes | 105 (90.52) |
No | 11 (9.48) |
Survey responder | |
Caregiver | 114 (98.28) |
Participant | 2 (1.72) |
Age at survey submission, years (Living participants only, N = 105) | |
Mean (SD); Mode | 7.1 (9.3); 4 |
Median (Q1, Q3); Min, Max | 5.0 (3.0, 7.0); 0, 68 |
Age at death, years (deceased participants only, N = 11) | |
Mean (SD); Mode | 3.5 (4.3); 1 |
Median (Q1, Q3); Min, Max | 2.0 (1.0, 4.0); 0, 14 |
Age at diagnosis, years | |
Mean (SD); Mode | 2.8 (5.0); 1 |
Median (Q1, Q3); Min, Max | 1.8 (1.0, 2.8); 0, 46 |
Genome type n (%) | |
nDNA | 74 (63.79) |
mtDNA | 42 (36.21) |
Specialists currently seen, Living participants only (N = 88) | |
Mean (SD); Mode | 5.7 (4.2); 6 |
Median (Q1, Q3); Min, Max | 5.0 (3.0, 8.0); 1, 30 |