TABLE 1.
Demographic and clinical characterization of the 39 Pitt Hopkins syndrome patients and their 46 unaffected family membersa
| Metric | Value for group |
|
|---|---|---|
| Pitt Hopkins syndrome patients (n = 39) |
Unaffected family members (n = 46) |
|
| Mean age (yrs) ± SD (no. of individuals) | 10.18 ± 8.50 (39) | 39.42 ± 9.78 (38) |
| % (no.) of females | 60.5 (38) | 60.5 (43) |
| % (no.) of Caucasian individuals | 87.2 (39) | 90.0 (40) |
| % (no.) of individuals with USA as country of residence | 92.3 (39) | 90.9 (44) |
| % (no.) of individuals with antibiotic use in the last yr | 51.3 (39) | 38.5 (39) |
| % (no.) of individuals with at least weekly use of probiotic | 48.6 (37) | 17.1 (41) |
| % (no.) of individuals with normal bowel movement quality | 44.7 (38) | 90.0 (40) |
| % (no.) of individuals in overweight or obese BMI category | 8.57 (35) | 56.1 (41) |
a
Notably, a large share of PTHS patients have used antibiotics within the last year and take probiotics regularly compared to their family members. Furthermore, PTHS patients are less likely to be overweight or obese and are more likely to have abnormal stool quality. BMI, body mass index.