Outcome
Type |
Measure |
Description |
Time frame |
Safety issue |
Primary |
Benton Judgement of Line Orientation |
Established measure to determine visuospatial perception. There are 30 items and each item is worth 1 point. Will assess change in score from baseline to post-diet. |
12 weeks |
|
Primary |
Brief Visuospatial memory test |
Established measure to determine visuospatial memory. Scores range from 0 to 36 and a higher score indicates more correct responses. Will assess change in score from baseline to post-diet. |
12 weeks |
|
Primary |
NIH Toolbox Picture Sequence Memory |
Established measure to determine visuospatial memory. Scaled scores based on age have a mean of 100 and a standard deviation of 15 and higher scores indicate more correct responses. Will assess change in this score from baseline to post-diet. |
12 weeks |
|
Primary |
Beery Developmental Test of Visual Motor Integration |
Established measure to determine visuomotor integration. Scaled scores based on age have a mean of 100 and a standard deviation of 15 with a floor of 45 and higher scores indicate more correct responses. Will assess change in this score from baseline to post-diet. |
12 weeks |
|
Primary |
Beery Developmental Test of Visual Perception |
Established measure to determine visual perception. Scaled scores based on age have a mean of 100 and a standard deviation of 15 with a floor of 45 and higher scores indicate more correct responses. Will assess change in this score from baseline to post-diet. |
12 weeks |
|
Primary |
Wechsler Intelligence Scale for Children -V Block Design |
Established measure to determine visuospatial processing. Scaled scores which will be scaled to age 16:11 for all participants have a mean of 10 and a standard deviation of 1.5 with a range of 1-19 and higher scores indicate more correct responses. Will assess change in this score from baseline to post-diet. |
12 weeks |
|
Primary |
Hopkins Verbal Learning Test |
Established measure to determine verbal memory. Scores range from 0 to 36 and a higher score indicates more correct responses. Will assess change in score from baseline to post-diet. |
12 weeks |
|
Secondary |
DNA Methylation analysis |
Measure genome-wide methylation signature in blood of participants. To obtain genome-scale methylation measurements, bisulfite treated DNA from patient blood samples will be processed on the Infinium HumanMethylation450 BeadChip at the Johns Hopkins SNP Center in accordance with the manufacturer's recommendation. The Infinium HumanMethylation450 BeadChip measures DNA methylation levels at 485,512 loci across the genome. The array data will then be analyzed to get the proportion of methylation at a given CpG site from 0 to 1. These will be logit transformed to create M-values. Kabuki syndrome is known to have a unique signature methylation profile (determined by M-values across loci) that can be detected in blood. This genome wide DNA methylation will be done every 3 weeks to determine whether this signature changes with dietary therapy. |
Every 3 weeks for 12 weeks |
|
Secondary |
Caregiver behavior rating scales: GAS-ID |
Rating scale for anxiety consists of 27 items with scores ranging from 0-70 with higher scores indicating more anxiety. Performed at baseline and post-diet. |
12 weeks |
|