Skip to main content

Table 4 Phenotypes significantly and negatively associated with deletion sizea

From: Phenome-wide profiling identifies genotype-phenotype associations in Phelan-McDermid syndrome using family-sourced data from an international registry

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]

  1. ADD, attention deficit disorder; ADHD, attention deficit-hyperactivity disorder; CI, confidence interval; OR, odds ratio
  2. aFor developmental phenotypes, negative associations indicate that acquisition of the skill was observed less frequently among individuals with larger deletions
  3. bBenjamini-Hochberg false discovery rate (FDR) adjusted p values