Table 1 Demographic data, discovery and replication data

From: Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia

 

Discovery, ENIGMA-CNV

Replication, deCODE

del

con

dup

P

del

con

dup

P

Individuals

12

6882

12

 

3

832

6

 

Age (mean (sd))

27.8 (20.4)

43.5 (20.0)

31.2 (19.6)

0.003

48.7 (14)

46.2 (12)

47.0 (15)

NS

Sex = female (%)

6 (50%)

3724 (54%)

3 (25%)

NS

2 (67%)

502 (60%)

1 (17%)

NS

Established diagnosis, n (%)

7 (58%)

336 (4.9%)

3 (25%)

<0.001

0 (0%)

158 (19%)

2 (33%)

NS

Diagnosis type (%)a

 ADHD

1 (8.3%)b

2 (<0.1%)

   

149 (18%)

2 (33%)

 

 Autism

  

2 (17%)

  

1 (0.1%)

  

 Bipolar

1 (8.3 %)

100 (1.5 %)

   

7 (0.8%)

  

 Dysthymia

1 (8.3 %)c

1 (<0.1%)

      

 Epilepsy

1 (8.3%)

101 (1.5%)

      

 Enuresis

1 (8.3%)

       

 Language disorder

1 (8.3%)c

       

 MDD

 

13 (0.2%)

1 (8.3%)d

     

 Schizophrenia

1 (8.3%)

119 (1.7%)

   

1 (0.1%)

  

Scanner sites

7

14

9

 

1

1

1

 

Types of arrayse

8

11

9

 

Various

Various

Various

 

Children, n (%)

5 (41.7%)

788 (11.5%)

5 (41.7%)

<0.001

0 (0)

0 (0)

0 (0)

 

Close relative in data set, n (%)

5 (41.7%)

1994 (30.8%)

2 (16.7%)

NS

3 (0%)

832 (0%)

6 (0%)

 
  1. Age, sex, established diagnosis, diagnosis type, number of scanner sites, types of arrays, children (number of individuals below 18 years) and individuals with close relatives (>3rd degree relatives) in the data set. P (p-value) is based on a χ2-test for categorical values and ANOVA for continuous values (R-package, TableOne)
  2. ADHD attention deficit disorder, MDD major depressive disorder, SCZ schizophrenia, del deletion carrier, con non-carriers, dup duplication carrier, NS non-significant
  3. aDiagnosis type specifies the total number within each carrier group with an established neurodevelopmental or psychiatric diagnosis
  4. bIn addition to Specific Learning disorder
  5. cIn addition to Moderate ID and Speech Sound disorder
  6. dIn addition to Social Anxiety disorder
  7. eThe arrays for ENIGMA-CNV are specified in Sup Table 1
Back to article page