TABLE 4.
Comparison Between Subjects With Pathogenic Findings, Variants of Unknown Significance, and Normal Results
| G1: Negative or Normal Results (n = 186) | G2: Variant of Unknown Significance (n = 77) | G3: Known Pathogenic Finding (n = 36) | Statistica | Pa | Effect Sizeb G1 Versus G2 | Effect Sizeb G1 Versus G3 | Effect Sizeb G2 Versus G3 | |
|---|---|---|---|---|---|---|---|---|
| Demographic characteristics | ||||||||
| Age, mean (SD) | 25.78 (4.5) | 26.35 (4.1) | 25.03 (4.5) | 1.13 | .33 | −0.13 | 0.17 | 0.29 |
| Female (n = 65, 21.7%), n (%) | 32 (49.2) | 25 (38.5) | 8 (12.3) | 7.15c | .03c | 0.32 | 0.32 | 0.32 |
| Male (n = 234, 78.3%), n (%) | 154 (65.8) | 52 (22.2) | 28 (12.0) | — | .03c | 0.32 | 0.32 | 0.32 |
| Insurance | 11.07 | .20 | 0.42 | 0.42 | 0.42 | |||
| Private, n (%) | 101 (43.3) | 40 (51.3) | 23 (65.7) | — | — | — | — | — |
| Public, n (%) | 81 (43.5) | 33 (42.3) | 12 (34.3) | — | — | — | — | — |
| Other, n (%) | 4 (2.2) | 5 (6.4) | 0 (0.0) | — | — | — | — | — |
| Mean income | 84 630.11 | 92 605.44 | 88 192.85 | 1.65 | .19 | −0.23 | −0.11 | 0.14 |
| Medical characteristics, n (%) | ||||||||
| Premature (GA ≤36) | 44 (23.7) | 15 (19.2) | 5 (14.3) | 1.83 | .40 | 0.34 | 0.34 | 0.34 |
| Regression | 9 (4.8) | 2 (2.6) | 3 (8.6) | 1.98 | .37 | 0.78 | 0.78 | 0.78 |
| Epilepsy | 3 (1.6) | 0 (0.0) | 0 (0.0) | 1.84 | .40 | 2.52 | 2.52 | 2.52 |
| Family history of ASD | 53 (28.5) | 29 (37.2) | 7 (20.0) | 3.79 | .15 | 0.45 | 0.45 | 0.45 |
| Sibling with ASD | 17 (9.1) | 5 (6.4) | 5 (14.3) | 3.83 | .43 | 0.81 | 0.81 | 0.81 |
| Dysmorphic features reported by clinician | 9 (4.8) | 7 (9.0) | 5 (14.3) | 4.64 | .10 | 1.07 | 1.07 | 1.07 |
| Diagnosis of global developmental delay | 79 (42.5) | 28 (35.9) | 18 (51.4) | 4.05 | .40 | 0.37 | 0.37 | 0.37 |
| Diagnosis of hypotonia | 8 (4.3) | 4 (5.1) | 1 (2.9) | 4.27 | .37 | 1.40 | 1.40 | 1.40 |
| Neuropsychological characteristics | ||||||||
| Verbal, n (%) | 99 (53.2) | 47 (60.3) | 14 (40.0) | 4.00 | .14 | 0.32 | 0.32 | 0.32 |
| Bayley cognitive standard score, mean (SD), n | 80.47 (14.34), 184 | 80.20 (13.75), 76 | 75.00 (13.60), 34 | 2.21 | .11 | 0.02 | 0.40 | 0.38 |
| Bayley language standard score, mean (SD), n | 61.37 (13.05), 135 | 62.04 (11.70), 52 | 60.69 (11.53), 26 | 0.11 | .90 | −0.06 | 0.06 | 0.12 |
| Bayley motor standard score, mean (SD), n | 79.24 (14.18), 133 | 78.47 (13.05), 51 | 75.79 (13.90), 28 | 0.72 | .49 | 0.06 | 0.25 | 0.19 |
| Vineland adaptive behavior composite, mean (SD), n | 73.68 (8.01), 154 | 74.01 (9.27), 70 | 69.89 (7.42), 28 | 2.76 | .07 | −0.04 | 0.51 | 0.56 |
| Vineland communication standard score, mean (SD), n | 69.60 (11.45), 162 | 70.68 (13.42), 73 | 66.28 (9.79), 29 | 1.44 | .24 | −0.08 | 0.34 | 0.45 |
| Vineland motor standard score, mean (SD), n | 86.54 (10.43), 160 | 85.60 (11.19), 72 | 80.10 (10.39), 29 | 4.50c | .01c | 0.08 | 0.62 | 0.53 |
| Vineland socialization standard score, mean (SD), n | 73.04 (6.85), 163 | 73.52 (8.11), 73 | 74.00 (7.57), 29 | 0.27 | .76 | −0.06 | −0.13 | −0.06 |
a
P values are for one-way analyses of variance comparisons when dependent variables were continuous; for qualitative variables, χ2 tests were used.
b
Effect size indicators are in Cohen d metric (ie, SD units) with values of 0.2, 0.5, and 0.8 being indicative of small, medium, and large effects. χ2 goodness of fit values were also transformed onto Cohen d metric. In the presence of 1 effect size, findings refer to the overall (omnibus) test statistic.
c
Signifies statistically significant P <.05.