Table 1.
Clinical features of PMS participants harboring class II and class I mutations in this study
| Entire cohort of 76 PMS probands |
Transcriptome subset (68 probands) |
Metabolome subset (25 probands) |
||||||
|---|---|---|---|---|---|---|---|---|
| Class II (n = 39) | Class I (n = 37) | p value | Effect size | p value | Effect size | p value | Effect size | |
| Sex, M/F | 16/23 | 22/15 | 0.169 | −0.180 | 1.000 | 0.010 | 0.877 | −0.120 |
| Caucasian/other | 33/6 (84%) | 33/4 (89%) | 0.802 | −0.070 | 1.000 | −0.010 | 0.565 | 0.250 |
| Hispanic/other | 4/35 (11%) | 4/33 (12%) | 1.000 | −0.010 | 0.215 | −0.180 | 0.363 | −0.250 |
| Age (months) | 85.821 ± 47.781 | 129.432 ± 97.734 | 0.026 | −0.579 | 0.039 | −0.564 | 0.317 | −0.180 |
| Verbal IQ/DQ | 22.354 ± 17.494 | 33.617 ± 24.181 | 0.045 | −0.546 | 0.034 | −0.645 | 0.305 | −0.490 |
| Nonverbal IQ/DQ | 28.688 ± 17.237 | 39.973 ± 21.916 | 0.023 | −0.583 | 0.017 | −0.699 | 0.222 | −0.383 |
| Full scale IQ/DQ | 24.739 ± 16.003 | 34.218 ± 19.943 | 0.019 | −0.535 | 0.016 | −0.623 | 0.272 | −0.437 |
| ADOS total | 15.912 ± 6.122 | 15.821 ± 8.094 | 0.854 | 0.013 | 0.891 | 0.085 | 0.717 | 0.745 |
| ADOS SA | 12.941 ± 5.116 | 11.882 ± 6.741 | 0.676 | 0.180 | 0.464 | 0.276 | 0.802 | 0.880 |
| ADOS RRB | 3 ± 1.969 | 3.939 ± 2.318 | 0.066 | −0.444 | 0.063 | −0.463 | 0.431 | −0.475 |
| ADI communication | 12.697 ± 4.355 | 12.065 ± 4.761 | 0.425 | 0.141 | 0.425 | 0.070 | 0.410 | 1.401 |
| ADI social | 19.529 ± 6.872 | 17.031 ± 8.656 | 0.313 | 0.326 | 0.359 | 0.308 | 0.094 | 1.880 |
| ADI RRB | 4.771 ± 2.426 | 4.594 ± 3.12 | 0.743 | 0.065 | 0.822 | 0.050 | 0.451 | 1.241 |
| VABS communication | 50.564 ± 15.441 | 52.722 ± 19.823 | 0.531 | −0.124 | 0.268 | −0.333 | 0.795 | −0.949 |
| VABS DLS | 51.821 ± 13.483 | 53.278 ± 16.77 | 0.702 | −0.098 | 0.505 | −0.154 | 0.897 | −0.725 |
| VABS social | 56.513 ± 12.941 | 60.75 ± 17.977 | 0.313 | −0.276 | 0.230 | −0.361 | 0.938 | −0.756 |
| VABS motor | 55.324 ± 11.954 | 63.188 ± 10.187 | 0.006 | −0.714 | 0.004 | −0.774 | 0.051 | −0.117 |
| VABS comp | 51.308 ± 12.404 | 55.306 ± 16.603 | 0.190 | −0.278 | 0.171 | −0.327 | 0.203 | −0.503 |
| ABC irritability | 10.114 ± 9.536 | 8.286 ± 11.184 | 0.158 | 0.179 | 0.117 | 0.312 | 0.560 | 0.707 |
| ABC social withdrawal | 10.943 ± 9.142 | 9.029 ± 7.86 | 0.485 | 0.228 | 0.328 | 0.270 | 0.950 | 0.992 |
| ABC stereotypic behavior | 4.857 ± 4.846 | 5.371 ± 6.193 | 0.887 | −0.094 | 0.714 | 0.096 | 0.269 | 0.239 |
| ABC hyperactivity | 19.265 ± 12.425 | 19 ± 13.083 | 0.876 | 0.021 | 0.979 | −0.027 | 0.829 | −0.741 |
| ABC inappropriate speech | 1.457 ± 2.091 | 3.371 ± 5.719 | 0.113 | −0.451 | 0.259 | −0.343 | 0.055 | −0.071 |
| Recurrent infections, Y/N | 13/24 (54%) | 11/22 (50%) | 1.000 | 0.012 | 1.000 | 0.010 | 1.000 | 0.010 |
Continuous measures were analyzed using a Mann-Whitney U test and effect sizes computed using Cohen’s D. Discrete measures were analyzed using a chi-square test and effect sizes computed using the phi coefficient. ABC, Aberrant Behavior Checklist; ADI, Autism Diagnostic Interview; ADOS, Autism Diagnostic Observation Schedule; DLS, daily living skills; DQ, developmental quotient; IQ, intellectual quotient; RRB, restrictive and repetitive behavior; SA, Social Affect; VABS, Vineland Adaptive Behavior Scales.
Recurrent infections were clinician graded and defined as more than two pneumonia or sinus infections per year.