Table 2B.
Empirical evidence knowledge score distribution of FMR1 gene mutations in a cohort of PCPs and medical students in Serbia.
| Cohort | PCPs | Medical students | |
|---|---|---|---|
| N (%) | N (%) | P-values | |
| Question 1-5: Are you aware of… | |||
| Answers: Yes or No | |||
| 1. …the availability of an early, precise genetic/medical diagnosis of FMR1 gene FM and/or PM? | |||
| Yes | 76 (26.8) | 147 (60) | |
| No | 208 (73.2) | 98 (40) | P < 0.001* |
| 2. …the professional organizations' recommendation on FMR1 testing in individuals diagnosed with neurodevelopmental and neurodegenerative disorders? | |||
| Yes | 66 (23.2) | 91 (37.1) | |
| No | 218 (76.8) | 154 (62.9) | P < 0.001* |
| 3. …advanced phases clinical trials aimed to “translate” new targeted treatments drugs in clinical practice that could modify core problems in FXS related to autism spectrum disorder? | |||
| Yes | 39 (13.7) | 43 (17.6) | |
| No | 245 (86.3) | 202 (84.2) | P = 0.226 |
| 4. … the FXS leading the way in clinical trials among all other developmental disorders, including ASD? | |||
| Yes | 23 (8.1) | 74 (30.2) | |
| No | 261 (91.9) | 204 (83.3) | P = 0.002 |
| 5. …0.17 out of 22of these clinical trials aimed to develop targeted drugs focused on the excitatory-inhibitory imbalance in FXS, namely, the mGluR/GABA leading to the excess protein accumulation at dendrite synapses as the hallmark of FXS? | |||
| Yes | 23 (8.1) | 32 (13.1) | |
| No | 261 (91.9) | 213 (86.9) | P = 0.062 |
FMR1, gene-Fragile X Mental Retardation 1 gene; PCPs, primary care physicians; FM, full mutations; PM, premutation; ASD, Autism Spectrum Disorder; FXS, fragile X syndrome; mGluR, metabotropic glutamate receptor; GABA, gamma, aminobutyric acid.
N, number of the study participants; P values, probability of the data arising by chance;
*
statistically significant data.