Table 1.
Dup15q syndrome participant characteristics (cross-sectional study)
| Age (months) | Gender | Medications (generic) | Duplication Type | Epilepsy (active) | Verbal DQ | Non-verbal DQ | VABS_DLS |
|---|---|---|---|---|---|---|---|
| 9 | M | None | Interstitial | No | 66.67 | 61.11 | 106.00 |
| 18 | M | None | Isodicentric | No | 50.00 | 52.78 | 77.00 |
| 29 | M | Oxcarbazepine | Isodicentric | Yes | 15.52 | 20.69 | 51.00 |
| 38 | M | Levetiracetam | Isodicentric | Yes | 13.16 | 25.00 | 38.00 |
| 39 | M | None | Isodicentric | No | 30.77 | 32.05 | 60.00 |
| 42 | M | None | Isodicentric | No | N/A | N/A | 57.00 |
| 44 | M | None | Interstitial | No | 91.00 | 68.00 | 83.00 |
| 46 | F | None | Isodicentric | No | 16.30 | 2.17 | 53.00 |
| 47 | M | None | Isodicentric | No | 73.40 | 69.15 | 83.00 |
| 48 | M | None | Interstitial | No | N/A | N/A | 66.00 |
| 50 | F | None | Isodicentric | No | 63.00 | 46.00 | 73.00 |
| 51 | M | None | Isodicentric | No | 32.35 | 38.24 | 54.00 |
| 53 | M | Lamotrigine | Isodicentric | Yes | 9.43 | 19.81 | 57.00 |
| 54 | F | None | Interstitial | No | 85.19 | 97.22 | 81.00 |
| 54 | M | None | Interstitial | No | 8.33 | 24.07 | 48.00 |
| 57 | M | None | Isodicentric | No | 47.37 | 44.74 | N/A |
| 61 | F | Valproic acid, clobazam, lacosamide, perampanel | Isodicentric | Yes | 9.02 | 13.93 | 50.00 |
| 62 | F | Rufinamide, valproic acid | Isodicentric | No | 50.00 | 30.65 | 57.00 |
| 64 | M | Lamotrigine, rufinamide | Isodicentric | Yes | 10.16 | 15.63 | 45.00 |
| 65 | M | None | Isodicentric | Yes | 9.23 | 13.08 | 38.00 |
| 67 | F | None | Interstitial | No | 37.31 | 37.31 | 57.00 |
| 68 | F | None | Interstitial | No | 14.71 | 21.32 | N/A |
| 69 | M | Valproic acid, topiramate | Isodicentric | Yes | 12.32 | 13.04 | 45.00 |
| 78 | M | None | Interstitial | No | 19.87 | 21.15 | 50.00 |
| 82 | M | Valproic acid, oxcarbazepine | Isodicentric | Yes | N/A | N/A | 36.00 |
| 94 | M | None | Isodicentric | No | 54.00 | 39.00 | N/A |
| 96 | F | None | Isodicentric | No | N/A | N/A | 61.00 |
| 100 | M | Carbamazepine, levetiracetam | Isodicentric | Yes | 54.00 | 64.00 | 66.00 |
| 102 | F | None | Isodicentric | No | 34.31 | 22.55 | 58.00 |
| 106 | M | None | Interstitial | No | N/A | N/A | 71.00 |
| 108 | M | None | Interstitial | No | 64.35 | 60.65 | 73.00 |
| 111 | F | None | Interstitial | No | 26.58 | 23.87 | 55.00 |
| 118 | F | None | Interstitial | No | 36.86 | 44.07 | N/A |
| 127 | F | Topiramate | Isodicentric | Yes | 22.83 | 20.47 | 47.00 |
| 134 | M | None | Isodicentric | No | 9.70 | 18.66 | 38.00 |
| 153 | M | Rufinamide, levetiracetam, lacosamide, epidolex | Isodicentric | Yes | 24.18 | 22.22 | N/A |
| 156 | M | None | Isodicentric | No | 37.18 | 24.20 | 40.00 |
| 161 | M | None | Interstitial | No | 73.00 | 66.00 | 73.00 |
| 169 | M | Rufinamide, valproic acid | Isodicentric | Yes | 16.57 | 13.02 | 20.00 |
| 175 | F | None | Interstitial | No | 31.00 | 41.00 | 86.00 |
| 189 | M | None | Isodicentric | Yes | 40.00 | 36.00 | 82.00 |
Cognitive tests were not available for all the participants. N/A not available. Dosages were not available for all the medications listed, hence not included in the table