Table 1 Studies included in the meta-analysis.

From: Magnitude and heterogeneity of brain structural abnormalities in 22q11.2 deletion syndrome: a meta-analysis

Study

Genetic information

Diagnostic information

Type of scanner

Method

Brain region

Participants (n)

IQ

Age

Gender

22q11DS

Controls

22q11DS

Controls

22q11DS

Controls

22q11DS

Controls

Mean

SD

Mean

SD

Mean

SD

Mean

SD

Male

Female

Male

Female

Antshel et al. 2005 [71]

FISHa,b

ADHD in all groups: 22q11.2DS—18 males and 10 females; controls —4 males and 1 female; siblings—0 males and 1 female

1.5T

Brain Image

Frontal lobe, parietal lobe, cerebellum,

25

28

68.9

12.8

95.6

10.3

11.1

2.7

10.7

2.4

25

n/a

28

n/a

25

13

68.9

12.8

103.0

15.0

11.1

2.7

12.3

1.9

25

n/a

13

n/a

20

19

76.3

11.7

97.5

13.6

10.8

2.5

9.2

2.3

n/a

20

n/a

19

20

17

76.3

11.7

105.9

13.1

10.8

2.5

12.2

1.9

n/a

20

n/a

17

Antshel et al. 2008 [72]

FISHa,b

No diagnostic information available

1.5T

Brain Image

Total brain

92

59

71.7

12.9

97.1

12.6

11.2

2.6

10.4

2.6

51

41

34

25

Baker et al. 2011 [73]

FISHa,b

No major psychiatric disorder

1.5T

SPM/MRIcron

Total grey matter, total white matter, hippocampus, CFS, amygdala, caudate

7

13

n/a

n/a

n/a

n/a

17.7

2.1

19.3

2.3

3

4

6

7

7

14

n/a

n/a

n/a

n/a

17.7

2.1

17.8

1.9

4

3

7

7

Bearden et al. 2004 [74]

FISHa,b

22q11.2DS group: 1 psychotic disorder and pervasive developmental disorder

1.5T

Segmentation handtracing

Frontal lobe, temporal lobe

13

9

80.8

16.1

118.3

15.0

12.3

3.2

12.2

2.8

6

7

5

4

Bearden et al. 2007 [75]

FISHa,b

22q11.2DS group: 6 ADHD; 1 oppositional defiant disorder; 1 PDD/psychosis-NOS; 10 anxiety disorders; 1 anxiety disorder-NOS; 4 specific phobia; 1 social phobia/GAD; 1 OCD traits; 1 PTSD/ acute stress disorder and 1 panic disorder

1.5T

LONI pipeline

Total brain

21

13

74.5

14.6

111.3

12.3

11.7

2.8

10.9

2.6

10

11

7

6

Bearden et al. 2009 [76]

FISHa,b

No diagnostic information available

1.5T

LONI pipeline

Total brain

21

13

74.5

14.6

111.3

12.3

11.7

2.8

10.9

2.6

10

11

7

6

Campbell et al. 2006 [77]

FISHa,b

SDQ and ASQ scales used but no information about diagnosis provided

1.5T

SPM

Total brain, frontal lobe, temporal lobe, parietal lobe, caudate

39

26

67.0

10.0

102.0

12.0

11.0

3.0

11.0

3.0

20

19

16

10

Chow et al. 2002 [78]

FISHa,b

22q11.2DS group: 11 schizophrenia and 3 schizoaffective disorder

1.5T

Brain Image

Total grey matter, total white matter, CFS, lateral ventricles

13

13

71.3

10.0

116.2

6.7

27.5

6.4

28.2

6.6

7

6

7

6

Debbane et al. 2006 [79]

FISHa,b

No major psychiatric disorder

1.5T

Brain Image

Total grey matter, total white matter, total brain, hippocampus, amygdala

43

40

69.4

11.5

111.1

13.4

16.7

8.7

15.1

7.9

16

27

17

23

Deboer et al. 2007 [65]

FISHa,b

No diagnostic information available

1.5T

SPM

Total grey matter, total white matter, CFS

36

36

77.0

12.0

110.0

11.0

10.8

2.3

10.5

1.9

17

19

23

13

Dufour et al. 2008 [68]

PCR sequencing

22q11.2DS group: 24 psychosis (5 schizophrenia and 10 on psychotropic medication) and 18 non psychotic

1.5T

Brain Image

Total brain

58

64

69.0

11.8

111.9

13.0

15.5

8.8

15.0

8.1

25

33

25

39

Eliez et al. 2000 [66]

FISHa,b

No diagnostic information available

1.5T

Brain Image

Frontal lobe, parietal lobe, cerebellum,

15

15

n/a

n/a

n/a

n/a

10.5

3.1

10.8

2.7

10

5

10

5

Eliez et al. 2001 [80]

FISHa,b

No diagnostic information available

1.5T

Brain Image

Total brain, temporal lobe, hippocampus, amygdala

23

23

n/a

n/a

n/a

n/a

12.7

3.9

12.9

4.1

15

8

15

8

Eliez et al. 2002 [81]

FISHa,b

22q11.2DS group: 1 mood disorder and 1 psychosis (neuroleptic medication)

1.5T

Brain Image

Total grey matter, total white matter, caudate

30

30

69.5

16.7

115.9

11.6

12.1

3.8

12.2

4.4

n/a

n/a

n/a

n/a

Glaser et al. 2007 [82]

FISHa,b

22q11.2DS group: 21 Hallucinations or delusions and 1 schizophrenia (treated at time of the scanning)

1.5T

BRAINS

Total brain

42

54

n/a

n/a

n/a

n/a

14.0

5.1

13.4

5.5

18

24

23

31

Gothelf et al. 2007 [83]

FISHa,b

22q11.2DS group: T1—No major psychiatric disorders. T2—6 psychotic disorder (3 risperidone, 2 quetiapine, 1 olanzapine); 10 received mood stabilisers (4 valproate, 3 oxcarbamazepine, 3 gabapentin, 1 lithium)

1.5T

Brain Image

Total grey matter, total white matter, total brain, frontal lobe, temporal lobe, parietal lobe, cerebellum, amygdala, caudate

29

29

72.8

14.9

115.3

12.7

12.3

4.0

12.7

4.0

20

9

20

9

Jalbrzowski et al. 2017 [10]

Molecularly confirmed method—not specified

22q11.2DS group: 29 ASD and 4 psychotic disorder

3T

FreeSurfer

Amygdala

29

27

76.7

11.8

110.2

20.4

14.3

5.7

12.9

4.9

18

11

14

13

32

28

81.5

14.0

110.2

20.4

13.8

5.4

12.9

4.9

14

18

15

13

Kates et al. 2001 [40]

FISHa,b

No diagnostic information available

1.5T

Automated Talairach atlas parcellation

Total grey matter, total white matter

10

10

73.0

15.0

96.6

10.4

10.1

1.8

10.1

1.9

3

7

3

7

Kates et al. 2005 [23]

FISHa,b

No diagnostic information available

1.5T

Measure

Frontal lobe

8

8

72.4

10.7

97.6

13.0

11.8

2.1

12.0

2.1

8

0

8

0

11

10

72.4

10.7

97.6

13.0

11.8

2.1

12.0

2.1

0

11

0

10

Kates et al. 2011 [52]

FISHa,b

SIPS used but no diagnostic information available

1.5T

Brain Image

Total grey matter, total white matter, cerebellum, hippocampus, amygdala, lateral ventricles

36

24

70.9

13.9

94.5

14.0

11.8

2.1

11.8

1.9

19

17

15

9

36

26

70.9

13.9

104.9

14.6

11.8

2.1

12.2

2.1

18

18

14

12

Lin et al. 2017 [36]

Molecularly confirmed methodc

22q11.2DS group: 29 ASD; 4 Psychotic disorder and 27 ADHD

3T

FreeSurfer

Total grey matter, total white matter, hippocampus, caudate, lateral ventricles

66

56

78.7

12.5

111.5

19.0

15.7

7.6

14.6

6.9

32

34

31

25

Sandini et al. 2017 [84]

FISHa,c

22q11.2DS group: 7 psychosis; 21 ADHD; 15 any mood disorder; 42 anxiety disorders; 18 other psychiatric disorders and 15 psychotic disorder. Of these, 17 were on ≥1 psychotropic medication (10 methylphenidate, 10 anxiolytics, 12 antidepressants, 14 neuroleptics and 3 antiepileptics)

3T

FreeSurfer

Total grey matter, total white matter

108

96

74.5

12.7

109.8

12.6

18.5

8.6

18.0

5.0

49

59

49

47

Scott et al. 2016 [58]

FISHa,c

No diagnostic information available

3T

ANTS pipeline/ LoCA

Hippocampus

37

24

74.9

13.1

113.8

13.3

11.3

2.6

10.7

2.4

37

n/a

24

n/a

32

24

74.9

13.1

113.8

13.3

11.3

2.6

10.7

2.4

n/a

32

n/a

24

van Amelsvoort et al. 2004 [85]

FISHa,b

22q11.2DS group: 13 schizophrenia (all with duration of illness >1 year and receiving antipsychotic medication. Further, 2 were hospitalised at the time of scanning)

1.5T

Measure

Total grey matter, total white matter, total brain, frontal lobe, temporal lobe, cerebellum, hippocampus, CFS, amygdala, caudate, lateral ventricles

13

6

69.0

8.0

75.0

16.0

34.0

11.0

36.0

10.0

6

7

4

3

12

6

74.0

9.0

75.0

16.0

31.0

10.0

36.0

10.0

4

8

4

3

  1. Where the study reports and analyses data separately for sub‐groups (such as males/females OR separate control/22q11DS groups) these are shown for each sub‐group
  2. aFluorescence in situ hybridisation
  3. bNo additional information provided
  4. cNot specified
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