Table 4.
Phenotypes significantly and negatively associated with deletion sizea
| Phenotype | p value | Adjusted p valueb | OR [CI] |
|---|---|---|---|
| Awareness of imaginary characters | 1.63e−06 | 1.68e−05 | 0.327 [0.199–0.501] |
| Dresses without assistance | 2.06e−08 | 4.27e−07 | 0.327 [0.217–0.474] |
| Toilets independently | 8.93e−08 | 1.56e−06 | 0.353 [0.236–0.508] |
| Number of words in a typical sentence | 1.10e−03 | 4.50e−03 | 0.378 [0.201–0.654] |
| Undresses without assistance | 1.51e−10 | 5.00e−09 | 0.391 [0.290–0.517] |
| Eats independently | 6.61e−11 | 2.43e−09 | 0.456 [0.359–0.575] |
| Night-time toilet trained | 4.07e−05 | 2.75e−04 | 0.465 [0.317–0.661] |
| Acts as if driven by a motor | 1.65e−07 | 2.60e−06 | 0.486 [0.369–0.634] |
| Verbal speech ability | 4.83e−08 | 9.41e−07 | 0.489 [0.377–0.630] |
| Engages in pretend play | 1.54e−06 | 1.65e−05 | 0.530 [0.407–0.684] |
| Plays alongside others, alone | 2.58e−06 | 2.59e−05 | 0.553 [0.431–0.707] |
| Drinks independently | 4.57e−06 | 4.21e−05 | 0.558 [0.434–0.715] |
| Ability to follow directions | 5.37e−06 | 4.68e−05 | 0.560 [0.435–0.717] |
| Responds to others' emotions | 1.59e−05 | 1.15e−04 | 0.572 [0.442–0.734] |
| Appears to act without thinking | 2.88e−05 | 1.99e−04 | 0.575 [0.443–0.744] |
| Hugs/kisses caregivers, dolls | 7.97e−06 | 6.60e−05 | 0.590 [0.467–0.742] |
| Responds affectionately to caregivers | 5.28e−05 | 3.30e−04 | 0.623 [0.495–0.783] |
| Runs around or climbs excessively when inappropriate | 1.66e−03 | 6.09e−03 | 0.635 [0.477–0.842] |
| Anxiety disorder | 2.39e−04 | 1.24e−03 | 0.643 [0.491–0.792] |
| Obsessive compulsive disorder | 2.09e−03 | 7.35e−03 | 0.658 [0.481–0.830] |
| ADHD | 1.59e−05 | 1.15e−04 | 0.674 [0.552–0.793] |
| Difficulty playing quietly | 3.53e−03 | 1.14e−02 | 0.681 [0.525–0.881] |
| Auditory processing disorder | 1.28e−03 | 4.87e−03 | 0.693 [0.539–0.848] |
| Symptoms/diagnosis of ADD/ADHD | 3.52e−09 | 8.97e−08 | 0.704 [0.624–0.787] |
| Leaves seat when remaining seated is expected | 1.56e−02 | 4.06e−02 | 0.706 [0.531–0.935] |
| Symptoms/diagnosis of obsessive–compulsive disorder | 1.98e−03 | 7.03e−03 | 0.720 [0.570–0.870] |
| Difficulty sustaining attention in tasks | 8.79e−03 | 2.44e−02 | 0.721 [0.563–0.920] |
| Plays peek-a-boo | 5.84e−03 | 1.71e−02 | 0.729 [0.581–0.912] |
| Response to sound | 1.30e−02 | 3.44e−02 | 0.739 [0.580–0.937] |
| Plays with peers | 1.13e−02 | 3.09e−02 | 0.750 [0.599–0.936] |
| Symptoms/diagnosis of generalized anxiety disorder | 7.95e−04 | 3.46e−03 | 0.751 [0.627–0.879] |
| Receptive language disorder | 7.76e−05 | 4.76e−04 | 0.759 [0.657–0.865] |
| Smiles at others | 1.99e−02 | 5.00e−02 | 0.760 [0.602–0.957] |
| Apraxia of speech | 4.30e−05 | 2.79e−04 | 0.767 [0.671–0.866] |
| Pica | 8.26e−04 | 3.55e−03 | 0.773 [0.657–0.891] |
| Imitates household activities during play | 3.48e−07 | 4.51e−06 | 0.786 [0.715–0.861] |
| Autism | 3.54e−07 | 4.51e−06 | 0.794 [0.724–0.866] |
| Understands the use of familiar objects | 9.98e−07 | 1.10e−05 | 0.798 [0.727–0.872] |
| Expressive language disorder | 1.07e−04 | 6.31e−04 | 0.807 [0.721–0.897] |
| Uses functional toys appropriately | 8.88e−06 | 7.00e−05 | 0.815 [0.743–0.890] |
| Pervasive developmental disorder | 5.38e−04 | 2.47e−03 | 0.820 [0.729–0.913] |
| Difficulty falling asleep | 8.24e−07 | 9.40e−06 | 0.823 [0.761–0.888] |
| Acts out recent experiences using gestures, etc | 2.44e−04 | 1.24e−03 | 0.825 [0.742–0.912] |
|
Exhibits sensory seeking behaviors Pointing |
3.29e−03 | 1.07e−02 | 0.854 [0.767–0.947] |
| 7.12e−04 | 3.19e−03 | 0.855 [0.779–0.935] | |
| Observes actions and imitates them later | 5.23e−04 | 2.47e−03 | 0.859 [0.787–0.935] |
| Gesturing | 1.22e−03 | 4.87e−03 | 0.860 [0.784–0.941] |
| Regression in cognitive abilities | 6.55e−03 | 1.99e−02 | 0.862 [0.772–0.957] |
| Understands the difference between food and objects | 1.25e−03 | 4.87e−03 | 0.864 [0.789–0.943] |
| Enuresis | 4.77e−03 | 1.44e−02 | 0.865 [0.779–0.954] |
| Difficulty going back to sleep | 1.32e−04 | 7.43e−04 | 0.865 [0.803–0.931] |
| 1 min Apgar score | 4.28e−03 | 1.31e−02 | 0.870 [0.792–0.957] |
| Frequent nighttime awakenings | 8.68e−04 | 3.68e−03 | 0.881 [0.817–0.949] |
| Sometimes aggressive behavior | 1.91e−02 | 4.83e−02 | 0.897 [0.818–0.981] |
| 5 min Apgar score | 2.69e−04 | 1.35e−03 | 0.901 [0.852–0.952] |
| Plays with interactive games/toys | 1.72e−02 | 4.41e−02 | 0.905 [0.832–0.982] |
| Short nighttime sleep | 1.80e−02 | 4.58e−02 | 0.908 [0.838–0.983] |
ADD, attention deficit disorder; ADHD, attention deficit-hyperactivity disorder; CI, confidence interval; OR, odds ratio
aFor developmental phenotypes, negative associations indicate that acquisition of the skill was observed less frequently among individuals with larger deletions
bBenjamini-Hochberg false discovery rate (FDR) adjusted p values