Table 1.
Phenotypic Comparison between the Two HVDAS Groups
| Table 1 | Class I (n = 15) | Class II (n = 17) | Effect | p Value | Adj. p Value |
|---|---|---|---|---|---|
| Sex | 10 females, 5 males | 5 females, 12 males | 0.37 | 0.080 | 1 |
| Age (years) | 7.33 ± 3.33 | 7.18 ± 4.56 | −0.04 | 0.910 | 1 |
| Autism spectrum disorder | 4 | 12 | −0.48 | 0.020 | 1 |
| ASD severity | 4.27 ± 1.83 | 6.4 ± 2.32 | 1.02 | 0.010 | 0.70 |
| Full scale IQ or developmental quotient (DQ) | 36.23 ± 13.82 | 35.72 ± 17.55 | −0.03 | 0.930 | 1 |
| Nonverbal IQ or DQ | 9 | 13 | −0.23 | 0.365 | 1 |
| Verbal IQ or DQ | 53 ± 13.11 | 48.59 ± 12.86 | −0.34 | 0.350 | 1 |
| Motor delays | 14 | 17 | −0.19 | 0.949 | 1 |
| Gait abnormalities | 13 | 15 | −0.27 | 0.464 | 1 |
| First walked independently | 22 ± 2.67 | 36.33 ± 6.45 | 2.90 | 2.1e−07 | 1.4e−5 |
| Language delay | 15 | 17 | 0.00 | 1.000 | 1 |
| Receptive vocabulary (standard score) | 60.5 ± 14.7 | 45.75 ± 20.41 | −0.83 | 0.060 | 1 |
| Expressive vocabulary (standard score) | 53.25 ± 14.9 | 45.14 ± 18.33 | −0.49 | 0.370 | 1 |
| Nonverbal or minimally verbal | 37.68 ± 14.34 | 37.97 ± 19.04 | 0.02 | 0.960 | 1 |
| First phrase | 80 ± 23.51 | 60 ± 15.74 | −1.00 | 0.094 | 1 |
| First single word | 38.71 ± 20.53 | 33.6 ± 12.47 | −0.30 | 0.457 | 1 |
| Intellectual disability | 15 | 16 | 0.00 | 1.000 | 1 |
| Attention deficit/hyperactivity disorder | 6 | 6 | 0.03 | 1.000 | 1 |
| Visual motor integration (standard score) | 58.17 ± 15.99 | 48.7 ± 11.24 | −0.69 | 0.240 | 1 |
| Vision problems | 10 | 16 | −0.35 | 0.126 | 1 |
| Vineland adaptive behavior composite | 35.92 ± 14.53 | 34.33 ± 17.97 | −0.10 | 0.800 | 1 |
| Sensory symptoms | 15 | 17 | 0.00 | 1.000 | 1 |
| High pain threshold | 10 | 15 | −0.3 | 0.252 | 1 |
| Seizures | 3 | 7 | −0.23 | 0.364 | 1 |
| GI problems | 11 | 14 | −0.11 | 0.851 | 1 |
| Hypothyroidism | 4 | 2 | 0.18 | 0.587 | 1 |
| Hypotonia | 11 | 15 | 0.01 | 1.000 | 1 |
| Sleep disturbance | 11 | 12 | −0.02 | 1.000 | 1 |
| Obstructive sleep apnea | 5 | 1 | 0.44 | 0.185 | 1 |
| Congenital heart defect | 7 | 5 | 0.18 | 0.522 | 1 |
| Early tooth eruption | 8 | 7 | 0.27 | 0.388 | 1 |
| Ptosis | 1 | 3 | −0.22 | 0.534 | 1 |
| Hearing problems | 6 | 3 | 0.25 | 0.313 | 1 |
| Neonatal intensive care unit stay at birth | 6 | 8 | −0.07 | 0.964 | 1 |
| Recurrent infections | 6 | 7 | −0.01 | 1.000 | 1 |
| Feeding issues | 3 | 9 | −0.34 | 0.120 | 1 |
| Structural brain changes | 3 | 7 | −0.3 | 0.369 | 1 |
Comparison between clinical measures collected prospectively from 15 class I and 17 class II HVDAS-affected individuals in cohorts S and W. Table S3 presents the analysis of additional measures, broken down by cohort. The Supplemental Notes describe all the measures listed (e.g., ASD severity refers to Comparison Score of the Autism Diagnostic Observation Schedule, 2nd Edition). The Shapiro-Wilk test was used to assess normality of all continuous variables, and either a one-way analysis of variance (ANOVA) or Wilcoxon rank sum test was implemented accordingly. Chi-square tests with Yates correction were used to test discrete variables. We adjusted all tests for multiple testing by using the Bonferroni method to control the false discovery rate. Effect sizes were estimated for discrete measures with the phi coefficient and for continuous measures with Cohen’s d.