Table 2 Clinical features of male probands with PARK2 exonic CNV

Age (year) of diagnosis

6

2

8

7

8

–

–

–

Age (year) of recruitment

6

15

10

7

10

21

9.39 ± 4.04

10.66 ± 5.36

Clinical diagnosis

Autism

HFA

HFA

Autism

HFA

Autism

–

–

CNV type/region

Loss/exons 6–7

(C region)

Loss/exon 5

(B region)

Loss/exon 5

(B region)

Gain/exons 3–4

(A region)

Loss/exons 2–4

(A region)

Gain/exons 2–3

(A region)

Inheritance

Paternal

Paternal

Paternal

Paternal

Paternal

Unknown

Speech delay

N

Y

Y

Y

N

–

Other

–

–

–

Epilepsy

–

–

Autism Diagnostic Interview-Revised (ADI-R) (current/past)

 Qualitative abnormalities in reciprocal social interaction (cut-off = 10)

19/26

11/21

10/19

13/27

5/4

–

12.39 ± 5.76/20.43 ± 6.12

12.51 ± 5.69/20.77 ± 6.28

 Qualitative abnormalities in communication, verbal (cut-off = 8)

10/13

5/12

8/14

13/16

9/13

–

11.48 ± 3.83/14.75 ± 4.32

13.10 ± 4.59/15.87 ± 4.63

 Restricted, repetitive, stereotyped patterns of behaviors (cut-off = 3)

7/7

2/5

3/5

6/10

4/6

–

5.43 ± 2.48/6.95 ± 2.47

5.61 ± 2.46/7.29 ± 2.65

 Abnormality of development evident at or before 36 months (cut-off = 1)

2

5

2

4

1

–

3.44 ± 1.53

3.18 ± 1.63

Social Responsiveness Scale (SRS)

Raw (t score)

 Social communication (score 0–84)

42 (84.81)

42 (89.91)

34 (74.08)

49 (92.51)

17 (56.50)

–

37.28 ± 14.13

41.04 ± 15.07

 Stereotyped behaviors/interest (score 0–39)

24 (83.74)

24 (90.13)

17 (70.30)

27 (89.47)

10 (57.17)

–

18.88 ± 7.00

20.04 ± 7.42

 Social awareness (score 0–33)

24 (65.07)

28 (69.01)

23 (62.20)

21 (60.23)

16 (51.36)

–

21.70 ± 4.97

21.85 ± 5.45

 Social emotion (score 0–24)

16 (71.43)

15 (72.56)

15 (69.22)

14 (66.97)

7 (51.44)

–

11.45 ± 4.55

12.64 ± 4.76

 Total score (score 0–180)

106 (83.32)

109 (88.77)

89 (72.90)

111 (85.76)

50 (55.25)

–

89.24 ± 25.84

95.57 ± 28.56

Intelligence quotient (IQ)

 Verbal IQ (range)

117

122

107

84

121

–

95.08 ± 23.79 (44–148)

94.80 ± 23.79 (40–145)

 Performance IQ (range)

90

94

95

85

111

–

96.74 ± 21.04 (41–145)

94.96 ± 21.28 (40–139)

 Full–scale IQ (range)

105

109

102

83

117

–

94.85 ± 22.55 (40–148)

93.56 ± 23.14 (40–141)

Wisconsin Card Sorting Test (WCST) (%)

 Total errors

63 (4 %)

35 (21 %)

19 (84 %)

48 (14 %)

16 (92 %)

–

44.11 ± 26.61

39.75 ± 25.25

 Perseverative response

34 (14 %)

20 (21 %)

6 (96 %)

55 (2 %)

8 (88 %)

–

27.32 ± 25.29

25.95 ± 26.15

 Perseverative errors

30 (13 %)

19 (18 %)

6 (97 %)

43 (3 %)

8 (87 %)

–

23.51 ± 19.31

22.23 ± 19.95

 Nonperseverative errors

33 (4 %)

15 (32 %)

13 (53 %)

5 (92 %)

8 (82 %)

–

20.60 ± 15.71

17.60 ± 12.07

 Conceptual level responses

18 (4 %)

53 (18 %)

77 (82 %)

39 (16 %)

81 (91 %)

–

58.44 ± 23.96

59.52 ± 21.03

 Categories completed

2 (>16 %)

6 (>16 %)

6 (>16 %)

1 (>16 %)

6 (>16 %)

–

4.12 ± 2.03

4.39 ± 2.02