Table 2.
Clinical features of male probands with PARK2 exonic CNV
| 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 |
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