Table 14.
Description of feasibility linked to phenotypical information: part B
| Genotype | Age | Sex | Eye-tracking tasks | fNIRS | Indirect calorimetry | BIA | BOD POD | PEDI-CAT scaled score (T-score)f | |||
|---|---|---|---|---|---|---|---|---|---|---|---|
| VOF | Social pref | Daily activities | Mobility | Social/cognitive | |||||||
| Deletion | 2 | Boy | No | Yes, Q+ | Yes, Q- | Yes, Q- | No | Yes, Q- | 42 (35) | 55 (41) | 47 (29) |
| Deletion | 2 | Girl | Yes, Q- | Yes, Q- | Yes, Q- | Yes, Q+ | No | Yes, Q- | 43 (29) | 56 (34) | 51 (29) |
| Deletion | 6 | Boy | Yes, Q+ | No | No | Refusedc | Refusedc | Yes, Q- | 47 (15) | 60 (23) | 52 (< 10) |
| Deletion | 6 | Girl | Yes, Q+ | Yes, Q+ | No | Yes, Q- | No | Yes, Q- | 42 (< 10) | 52 (< 10) | 49 (< 10) |
| Deletion | 8 | Boy | Yes, Q+ | No | No attemptb | No | No | Yes, Q+ | - | - | - |
| Deletion | 8 | Girl | Yes, Q+ | No | No attemptb | No | No | Yes, Q- | - | - | - |
| Deletion | 9 | Boy | No | No | No attemptb | No | No | Yes, Q+ | - | - | - |
| Deletion | 9 | Boy | Yes, Q- | No | No | Yes, Q+ | Yes, Q- | Yes, Q- | - | - | - |
| Deletion | 12 | Boy | Yes, Q+ | Yes, Q+ | No | No | No | Yes, Q+ | - | - | - |
| Deletion | 12 | Boy | Yes, Q- | Yes, Q+ | No attemptb | Yes, Q- | Yes, Q- | Yes, Q+ | - | - | - |
| Deletion | 12 | Boy | Yes, Q+ | No | No | Refusedd | Refusedd | Refusedd | 50 (< 10) | 62 (< 10) | 54 (< 10) |
| Deletion | 12 | Girl | No | Yes, Q+ | No | Refusedd | Refusedd | Refusedd | - | - | - |
| Deletion | 13 | Girl | Yes, Q+ | No | No | Yes, Q- | No | Yes, Q+ | 46 (< 10) | 52 (< 10) | 49 (< 10) |
| Deletion | 14 | Boy | Yes, Q- | Yes, Q- | Yes, Q+ | Yes, Q- | Yes, Q+ | No attempte | 39 (< 10) | 44 (< 10) | 50 (< 10) |
| Deletion | 18 | Girl | Yes, Q+ | No | Yes, Q- | Yes, Q+ | Yes, Q+ | Yes, Q+ | 49 (< 10) | 56 (< 10) | 60 (< 10) |
| UPD | 7 | Girl | Yes, Q- | No | Yes, Q- | No | No | No | 50 (22) | 60 (19) | 57 (12) |
| UPD | 8 | Girl | Yes, Q- | No | No | Refusedd | Refusedd | Refusedd | 50 (14) | 59 (< 10) | 54 (< 10) |
| UPD | 12 | Girl | Yes, Q- | Yes, Q?a | Yes, Q?a | No | No | Yes, Q+ | 51 (< 10) | 63 (< 10) | 56 (< 10) |
| UPD | 13 | Girl | Yes, Q+ | No | Yes, Q?a | Yes, Q+ | Yes, Q- | No attempte | 44 (< 10) | 52 (< 10) | 51 (< 10) |
| UPD | 14 | Boy | Yes, Q+ | Yes, Q+ | No | No | Refusedc | No | 51 (< 10) | 65 (< 10) | 58 (< 10) |
| UPD | 15 | Boy | Yes, Q+ | No | No attemptb | No | Yes, Q- | Yes, Q+ | 48 (< 10) | 59 (< 10) | 51 (< 10) |
| UPD | 17 | Boy | Yes, Q+ | No | No attemptb | No | No | Yes, Q+ | - | - | - |
| ICD | 7 | Girl | Yes, Q+ | Yes, Q?a | Yes, Q?a | No | No | Yes, Q+ | 51 (24) | 62 (26) | 56 (< 10) |
| Mutation | 5 | Girl | Yes, Q- | No | No attemptb | Yes, Q+ | Yes, Q+ | Yes, Q- | 49 (24) | 64 (38) | 53 (< 10) |
| Mutation | 7 | Boy | Yes, Q+ | Yes, Q+ | No attemptb | Yes, Q+ | Yes, Q- | Yes, Q+ | 45 (< 10) | 61 (20) | 51 (< 10) |
| Mutation | 9 | Girl | Yes, Q+ | No | Yes, Q- | Yes, Q+ | Yes, Q- | Yes, Q+ | 51 (13) | 62 (< 10) | 63 (22) |
| Mutation | 15 | Boy | Yes, Q+ | Yes, Q+ | Yes, Q- | Yes, Q+ | Yes, Q+ | Yes, Q+ | 56 (< 10) | 63 (< 10) | 62 (< 10) |
| Mutation | 18 | Girl | Yes, Q+ | Yes, Q+ | Yes, Q- | Yes, Q+ | Yes, Q+ | Yes, Q+ | 51 (< 10) | 61 (< 10) | 60 (< 10) |
Abbreviations: BIA Bio-impedance analysis, BOD POD Whole body air-displacement plethysmography, fNIRS Functional Near Infrared Spectroscopy, ICD Imprinting center defect, PEDI-CAT Pediatric Evaluation of Disability Inventory Computer Adaptive Test, Social pref. Social preference task, UPD Uniparental paternal disomy, VOF Cerebral visual impairment task, Q+ Acceptable data quality, Q- Non-acceptable data quality
aQuality not assessable due to technical problems
bfNIRS measurement halted after 20th participant due to ethical reasons
cChild or legal representative refused to participate in this specific measurement beforehand
dChild of legal representative refused to participate in second study visit
eMeasurement could not be started due to technical problems
fScaled scores on the PEDI-CAT lay on a continuum of 20 (low function) to 80 (high function) and are not age-related. T-scores were not reported, as more than half of the population had a T-score lower than 10, under which no differentiation was possible