Table 1.
INFACT Site-Specific Demographics of Patients With NF1
| Characteristic | WUSM8 | UCSF9 | CNHS10 | UHL11 | UM12 | CHW | All Sites |
|---|---|---|---|---|---|---|---|
| Recruitment population | Convenience sample from NF1 outpatient clinic | Convenience sample from UCSF genetics clinics, NF1 educational symposia at UCSF, and social media outlets | Convenience sample from patients referred to an outpatient NF1 clinic who completed intake screening package | Convenience sample recruited on a sequential basis from NF1 outpatient clinic | Population-based sample from a regional genetic registry | Convenience sample recruited on a sequential basis from a neurogenetics clinic | NA |
| ASD instrument | SRS-2 | SRS, SRS-2 | SRS, SRS-2 | SRS-2 | SRS, SRS-2 | SRS, SRS-2 | |
| ADHD instrument (pediatric) | Conners-3 | NA | VADPRS | NA | Conners-3, CPRS-R | Conners-3, CADS | |
| ADHD instrument (adult) | CAARS | NA | VADPRS | NA | NA | NA | |
| Sample size, No. | 103 | 83 | 131 | 82 | 109 | 23 | 531 |
| Age, median (range), y | 16 (3–74) | 17 (2.5–83.9) | 10 (3–53) | 9.5 (5–18) | 10 (4–16) | 10 (6–13) | 11 (2.5–83.9) |
| Sex, No. (%) | |||||||
| Male | 44 (42.7) | 32 (38.6) | 69 (52.7) | 44 (53.7) | 50 (45.9) | 8 (34.8) | 247 (46.5) |
| Female | 59 (57.3) | 51 (61.4) | 62 (47.3) | 38 (46.3) | 59 (54.1) | 15 (65.2) | 284 (53.5) |
| Age <18, No. (%), y | 56 (54.4) | 42 (50.6) | 111 (84.7) | 79 (96.3) | 109 (100) | 23 (100) | 420 (79.1) |
| Age ≥18, No. (%), y | 47 (45.6) | 41 (49.4) | 20 (15.3) | 3 (3.7) | 0 | 0 | 111 (20.9) |
| Sporadic transmission, No. (%) | 59 (57.3) | 42 (50.6)a | 41 (31.3)a | 56 (68.3) | 29 (26.6)a | 13 (56.5) | 240 (45.2)a |
| Familial transmission, No. (%) | 44 (42.7) | 29 (34.9)a | 17 (13)a | 26 (31.7) | 49 (45)a | 10 (43.5) | 175 (33)a |
| SRS T score, mean (SD) | 58.43 (12.76) | 53.81 (15.45)b | 55.33 (10.55)b | 60.76 (12.63) | 63.05 (14.35)b | 57.65 (12.29) | 58.21 (13.38) |
| SRS-2 score ≥60, No. (%) | 45 (43.7) | 23 (27.7)c | 38 (29)c | 39 (47.6) | 56 (51.4) | 7 (30.4) | 208 (39.2) |
| SRS-2 score ≥70, No. (%) | 18 (17.5) | 11 (13.3) | 13 (9.9) | 18 (22) | 32 (29.4)d | 4 (17.4) | 96 (18.1) |
| SRS-2 score ≥75, No. (%) | 13 (12.6) | 10 (12) | 8 (6.1)e | 12 (14.6) | 24 (22) | 3 (13) | 70 (13.2) |
Abbreviations: ADHD, attention-deficit/hyperactivity disorder; ASD, autism spectrum disorder; CAARS, Conners Adult ADHD Rating Scale; CADS, Conners ADHD/DSM-IV Scales; CHW, The Children’s Hospital at Westmead; CNHS, Children’s National Health System; Conners-3, Conners, third edition; CPRS-R, Conners Parent Rating Scale–Revised; INFACT, International NF1-ASD Consortium Team; NA, not applicable; NF-1, neurofibromatosis type 1; SRS-2, Social Responsiveness Scale, second edition; UCSF, University of California, San Francisco; UHL, University Hospital of Leuven; UM, The University of Manchester; VADPRS, Vanderbilt ADHD Diagnostic Parent Rating Scale; WUSM, Washington University School of Medicine.
Total does not equal 100% due to presence of unknown values.
The University of Manchester is greater than UCSF and CNHS; P < .001.
University of California, San Francisco and CNHS are less than all other sites; P = .001.
The University of Manchester is greater than all other sites; P = .004.
CNHS is less than all other sites; P = .002.