Table 1 Demographics
From: Caregiver perspectives on patient-focused drug development for Phelan-McDermid syndrome
Response Options | Number of Responses | Percentage (%) |
|---|---|---|
1a: Genetic change causing PMS (n = 108) | ||
 A. Deletion | 68 | 62.96 |
 B. SHANK3 variant | 37 | 34.26 |
 C. Not sure | 3 | 2.78 |
1b: Residence (n = 114) | ||
 A. US Pacific time zone | 19 | 16.67 |
 B. US Mountain time zone | 6 | 5.26 |
 C. US Central time zone | 18 | 15.79 |
 D. US Eastern time zone | 49 | 42.98 |
 E. US Alaska or Hawaii time zone | 0 | 0 |
 F. Europe/UK | 19 | 16.67 |
 G. Middle East | 0 | 0 |
 H. Asia | 0 | 0 |
 I. Canada | 3 | 2.63 |
 J. Brazil | 0 | 0 |
 K. Mexico | 0 | 0 |
 L. Africa | 0 | 0 |
 M. Other | 0 | 0 |
1c: Biological sex of affected individual (n = 116) | ||
 A. Female | 56 | 48.28 |
 B. Male | 60 | 51.72 |
 C. Other | 0 | 0 |
1d: Age of affected individual (n = 129) | ||
 A. Under 12 months | 0 | 0 |
 B. 1–2 years of age | 7 | 5.43 |
 C. 3–4 years of age | 6 | 4.65 |
 D. 5–10 years of age | 46 | 35.66 |
 E. 11–20 years of age | 37 | 28.68 |
 F. 21–30 years of age | 21 | 16.28 |
 G. 31–40 years of age | 11 | 8.53 |
 H. 41–60 years of age | 1 | 0.78 |
 I. Older than 60 years | 0 | 0 |
1e: Age of diagnosis (n = 146) | ||
 A. 0–6 months | 6 | 4.11 |
 B. 7–12 months | 13 | 8.9 |
 C. 13–24 months | 25 | 17.12 |
 D. 25–36 months | 26 | 17.81 |
 E. 4–5 years | 24 | 16.44 |
 F. 6–10 years | 17 | 11.64 |
 G. 11–20 years | 22 | 15.07 |
 H. 21–30 years | 7 | 4.79 |
 I. 31–40 years | 6 | 4.11 |
 J. 41–60 years | 0 | 0 |
 K. Unsure | 0 | 0 |