Table 1 Participant demographic and clinical health characteristics
Demographic characteristic | Patient total (n = 12) | Caregiver total (n = 8) |
|---|---|---|
Gender | ||
Female | 5 (41.7%) | 6 (75.0%) |
Male | 7 (58.3%) | 2 (25.0%) |
Agea | ||
Mean (SD) | 29.3 (10.24) | 55.9 (9.52) |
Median | 24.0 | 55.5 |
Q1, Q3 | 21.5, 38.5 | 47.0, 64.5 |
Min, Max | 19, 46 | 45, 68 |
Race | ||
White | 12 (100%) | 8 (100%) |
Ethnicity | ||
Not Hispanic/Latino | 12 (100%) | 8 (100%) |
Has caregiver | ||
No | 4 (33.3%) | – |
Yes | 8 (66.7%) | – |
Education | ||
High school diploma (or GED) | – | 1 (12.5%) |
Some college or certification program | – | 1 (12.5%) |
College or university degree (2- or 4-year) | – | 5 (62.5%) |
Graduate degree | – | 1 (12.5%) |
Work Status | ||
Employed full-time (≥ 40 h per week) | – | 2 (25.0%) |
Employed part-time (< 40 h per week) | – | 1 (12.5%) |
Homemaker | – | 2 (25.0%) |
Retired | – | 3 (37.5%) |
Relationship to patient | ||
Parent | – | 8 (100%) |
Live with Patient | ||
Yes | – | 5 (62.5%) |
No | – | 3 (37.5%) |
GALT enzyme activityb | ||
0.0 nmol/h/mg of hemoglobin | 12 | – |
GALT gene mutations | ||
Q188R (homozygous) | 8 | – |
Q188R, D98N | 1 | – |
Q188R, Other | 1 | – |
Q188R, K285N | 1 | – |
Q188R, L195P | 1 | – |