Table 2.
Result summary of FXPOI knowledge questions with percent of participants who selected each answer choice
| Question | Answer choices | |||||
|---|---|---|---|---|---|---|
| Multiple choice | ||||||
| Q5. A 25-year-old assigned female at birth presents with inconsistent menstrual cycles, what is the best next step? | Prescribe birth control | Measure hormone levels | Perform a mental health assessment | Reassure the patient that this is normal | Recommend daily vitamin D and iron | |
| Pre-intervention survey (N = 95) | 11 (11.6%) | 77 (81.0%) | 2 (2.1%) | 4 (4.2%) | 1 (1.0%) | |
| Post-intervention survey (N = 95) | 15 (15.8%) | 72 (75.8%) | 3 (3.2%) | 5 (5.3%) | 0 (0%) | |
| Q6. Which of the following would raise suspicion for fragile X premutation status and prompt further testing if a patient had no other remarkable personal or family history? | Sister with breast cancer | Elevated estrogen levels in the patient | Nephew with intellectual disability | Decreased FSH levels in the patient | Elevated progesterone levels in the patient | |
| Pre-intervention survey (N = 95) | 0 (0%) | 2 (2.1%) | 69 (72.6%) | 22 (23.1%) | 2 (2.1%) | |
| Post-intervention survey (N = 95) | 3 (3.2%) | 2 (2.1%) | 75 (78.9%) | 14 (14.7%) | 1 (1.0%) | |
| Q9. How many CGG repeats in the FMR1 gene constitutes a premutation? | 5–44 | 45–54 | 55–200 | Over 200 | ||
| Pre-intervention survey (N = 92) | 20 (21.7%) | 15 (16.3%) | 46 (50.0%) | 11 (12.0%) | ||
| Post-intervention survey (N = 95) | 9 (9.5%) | 16 (16.8%) | 66 (69.5%) | 4 (4.2%) | ||
| Q10. How many CGG repeats in the FMR1 gene puts assigned females at birth at the highest risk to be affected by FXPOI?* | 80–100 | 100–125 | 150–200 | 60–75 | ||
| Pre-intervention survey (N = 45) | 7 (15.9%) | 5 (11.4%) | 30 (68.2%) | 2 (4.5%) | ||
| Post-intervention survey (N = 66) | 41 (62.1%) | 1 (1.5%) | 24 (36.4%) | 0 (0%) | ||
| Q11. In the setting of absent menstrual cycles and an elevated FSH, which test would be indicated as a next step? | A hormone panel | Urinary organic acid analysis | FMR1 genetic testing | Karyotype | Prolactin and thyroid function test | |
| Pre-intervention survey (N = 94) | 13 (13.8%) | 1 (1.1%) | 18 (19.1%) | 23 (24.5%) | 39 (41.5%) | |
| Post-intervention survey (N = 95) | 14 (14.7%) | 0 (0%) | 47 (49.5%) | 16 (16.8%) | 18 (18.9%) | |
| Q12. What is the best step taken for long-term care after a diagnosis of FXPOI? | REI visit every 1–2 years for possible HRT and hormone evaluation, monitored care by other specialists | Mammograms every 6–12 months starting at 35, physical therapy, DEXA scans | Hysterectomy and bilateral oophorectomy, REI visit every 3–5 years | Annual DEXA scans, physical therapy, endometrial ablation | Consistent use of a blood-thinner, birth control, and specialized diet | |
| Pre-intervention survey (N = 94) | 89 (94.7%) | 3 (3.2%) | 1 (1.1%) | 1 (1.1%) | 0 (0%) | |
| Post-intervention survey (N = 95) | 92 (96.8%) | 0 (0%) | 0 (0%) | 2 (2.1%) | 1 (1.0%) | |
| Q13. What comorbidity risks are associated with FXPOI? | Anemia, headaches | Anxiety/depression, osteoporosis | Hypertension, increased blood clotting | Vision loss, anxiety/depression | Diabetes | |
| Pre-intervention survey (N = 94) | 0 (0%) | 78 (83.0%) | 4 (4.3%) | 7 (7.4%) | 5 (5.3%) | |
| Post-intervention survey (N = 95) | 1 (1.0%) | 83 (87.4%) | 2 (2.1%) | 3 (3.2%) | 6 (6.3%) | |
| Q14. What are symptoms of FXPOI? | Irregular menses, hot flashes, night sweats | Sleep apnea, chronic fatigue, weight loss | Full body muscle cramps, nausea | Migraines, breast pain, and edema | Increased bleeding at menses, constipation, vomiting | |
| Pre-intervention survey (N = 95) | 92 (96.8%) | 1 (1.0%) | 2 (2.1%) | 0 (0%) | 0 (0%) | |
| Post-intervention survey (N = 95) | 92 (96.8%) | 2 (2.1%) | 0 (0%) | 1 (1.0%) | 0 (0%) | |
| Q16. Which individual(s) is at the highest risk for FXPOI?** | I | II | III | II & III | All are at equal risk | |
| Pre-intervention survey (N = 94) | 0 (0%) | 17 (18.1%) | 30 (31.9%) | 18 (19.1%) | 29 (30.8%) | |
| Post-intervention survey (N = 94) | 1 (1.1%) | 17 (18.1%) | 36 (38.3%) | 26 (27.7%) | 14 (14.9%) | |
| True/false | ||||||
| Q15. All assigned females at birth who are younger than 40 years old and are experiencing unexplained ovarian insufficiency or elevated FSH levels > 40 mIU/mL should have FMR1 genetic testing? | True | False | ||||
| Pre-intervention survey (N = 95) | 81 (85.3%) | 14 (14.7%) | ||||
| Post-intervention survey (N = 95) | 92 (96.8%) | 3 (3.2%) | ||||
| Check all that apply | ||||||
| Q7. What are important reproductive counseling points to discuss with an assigned female at birth who is a premutation carrier? | Increased risk for reduced fertility | Increased risk for gestational diabetes | Increased risk of having a child with intellectual disability | Increased risk of having a child who is at an increased risk for pediatric cancer | Increased risk of having a child with hearing and vision loss | Increased risk for preeclampsia |
| Pre-intervention survey (N = 95) | 71 (74.7%) | 10 (10.5%) | 85 (89.5%) | 9 (9.5%) | 31 (32.6%) | 9 (9.5%) |
| Post-intervention survey (N = 95) | 84 (88.4%) | 9 (9.5%) | 88 (92.6%) | 6 (6.3%) | 27 (28.4%) | 11 (11.6%) |
| Q8. What are some of the personal health risks an assigned female at birth with an identified premutation may have? | Mental health complications | Tremor and ataxia | Type II diabetes | Hearing loss | There is no risk to personal health because it is not a full mutation | |
| Pre-intervention survey (N = 95) | 40 (42.1%) | 26 (27.4%) | 13 (13.7%) | 21 (22.1%) | 33 (34.7%) | |
| Post-intervention survey (N = 95) | 62 (65.3%) | 44 (46.3%) | 11 (11.6%) | 17 (17.9%) | 20 (21.0%) | |
Correct answers/choices are in bold emphases
*A reduced sample size due to participants only being asked this question if question 9 was answered correctly
**The pedigree in supplemental materials
Significant associations (p <0.05) between pre- and post-intervention knowledge scores are indicated