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Table 2 Clinical features of male probands with PARK2 exonic CNV

From: Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder

  U1469 U1290 U1859 U1984 U2650 U2890 Initial sample
335 probands
(Mean ± SD)
Replication sample
301 probands
(Mean ± SD)
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
  1. CNV copy number variation, ADI-R the ADI-R interviews revealed the 636 patients scored 20.7 ± 6.5 in the “qualitative abnormalities in reciprocal social interaction” (cut-off = 10), 15.2 ± 4.7 in the “qualitative abnormalities in communication, verbal” (cut-off = 8), and 7.0 ± 2.7 in the “restricted, repetitive, and stereotyped patterns of behaviors” (cut-off = 3), SRS the Chinese version of the Social Responsiveness Scale (60 items; score 0 (never true) - 3 (almost always true); total scores can range from 0 to 180) and the t score was generated by comparing to Taiwanese norm, HFA high function autism. WCST percentile ≤ 10 %: poor performance, percentile 11~90 %: normal range, percentile ≥ 91 %: great performance