Skip to main content
. 2020 Jul 9;52(3):574–586. doi: 10.1017/S0033291720002330

Table 1.

Descriptive and summary statistics for the sample of children with neurodevelopmental copy number variants. Variables described are A) family background, B) demographics, C) Cognition, D) Developmental Behaviour Checklist scores and E) Health related variables.

15q11.2 deletion (N = 36) 15q13.3 deletion (N = 20) 15q13.3 duplication (N = 10) 16p11.2 deletion (N = 52) 16p11.2 distal deletion (N = 13) 16p11.2 duplication (N = 23) 1q21.1 deletion (N = 16) 1q21.1 duplication (N = 21) 22q11.2 deletion (N = 70) 22q11.2 duplication (N = 23) Kleefstra syndrome (N = 12) NRXN1 (N = 16) TAR duplication (N = 10) Total (N = 322)
(A) Family background
Maternal education
 N-Miss 0 0 0 0 0 1 0 0 1 1 0 0 0 3
 Low (O-levels, GCSE's) 8 (22.2%) 7 (35.0%) 2 (20.0%) 18 (34.6%) 6 (46.2%) 4 (18.2%) 3 (18.8%) 5 (23.8%) 14 (20.3%) 3 (13.6%) 2 (16.7%) 7 (43.8%) 0 (0.0%) 79 (24.8%)
 Middle (A-level's, Highers, vocational training) 14 (38.9%) 5 (25.0%) 5 (50.0%) 17 (32.7%) 4 (30.8%) 8 (36.4%) 6 (37.5%) 12 (57.1%) 31 (44.9%) 10 (45.5%) 5 (41.7%) 4 (25.0%) 6 (60.0%) 127 (39.8%)
 High (University/ postgraduate degree) 9 (25.0%) 7 (35.0%) 3 (30.0%) 12 (23.1%) 3 (23.1%) 7 (31.8%) 4 (25.0%) 2 (9.5%) 20 (29.0%) 7 (31.8%) 5 (41.7%) 5 (31.2%) 2 (20.0%) 86 (27.0%)
 No School Leaving Exams 5 (13.9%) 1 (5.0%) 0 (0.0%) 5 (9.6%) 0 (0.0%) 3 (13.6%) 3 (18.8%) 2 (9.5%) 4 (5.8%) 2 (9.1%) 0 (0.0%) 0 (0.0%) 2 (20.0%) 27 (8.5%)
Approximate family income
 N-Miss 4 1 1 10 1 3 2 1 7 2 1 2 0 35
 < = £ 19 999 9 (28.1%) 4 (21.1%) 4 (44.4%) 14 (33.3%) 3 (25.0%) 10 (50.0%) 5 (35.7%) 12 (60.0%) 14 (22.2%) 8 (38.1%) 5 (45.5%) 3 (21.4%) 4 (40.0%) 95 (33.1%)
 £ 20 000 - £ 39 999 11 (34.4%) 7 (36.8%) 2 (22.2%) 15 (35.7%) 6 (50.0%) 7 (35.0%) 8 (57.1%) 3 (15.0%) 14 (22.2%) 5 (23.8%) 1 (9.1%) 9 (64.3%) 6 (60.0%) 94 (32.8%)
 £ 40 000 - £ 59 999 9 (28.1%) 3 (15.8%) 3 (33.3%) 10 (23.8%) 1 (8.3%) 2 (10.0%) 0 (0.0%) 3 (15.0%) 16 (25.4%) 6 (28.6%) 2 (18.2%) 2 (14.3%) 0 (0.0%) 57 (19.9%)
 £ 60 000 + 3 (9.4%) 5 (26.3%) 0 (0.0%) 3 (7.1%) 2 (16.7%) 1 (5.0%) 1 (7.1%) 2 (10.0%) 19 (30.2%) 2 (9.5%) 3 (27.3%) 0 (0.0%) 0 (0.0%) 41 (14.3%)
(B) Demographics of child participants
Child ethnicity
 N-Miss 0 0 1 0 0 0 0 0 0 1 0 0 0 2
 European 33 (91.7%) 18 (90.0%) 9 (100.0%) 48 (92.3%) 13 (100.0%) 21 (91.3%) 15 (93.8%) 21 (100.0%) 64 (91.4%) 20 (90.9%) 11 (91.7%) 16 (100.0%) 10 (100.0%) 299 (93.4%)
 Other 3 (8.3%) 2 (10.0%) 0 (0.0%) 4 (7.7%) 0 (0.0%) 2 (8.7%) 1 (6.2%) 0 (0.0%) 6 (8.6%) 2 (9.1%) 1 (8.3%) 0 (0.0%) 0 (0.0%) 21 (6.6%)
Age of child participants
 N-Miss 0 0 0 0 0 0 0 0 0 0 0 0 0 0
 Mean (s.d.) 9.495 (3.018) 9.747 (3.123) 9.010 (2.840) 9.826 (3.256) 10.022 (3.298) 10.576 (3.480) 9.664 (2.781) 9.233 (3.377) 9.891 (2.863) 9.761 (3.240) 12.191 (3.911) 8.892 (2.773) 8.831 (2.590) 9.794 (3.119)
 Range 6.022–16.380 6.169–15.419 6.413–15.186 6.068–17.477 6.135–16.750 6.197–17.280 6.079–15.829 6.016–17.060 6.019–17.905 6.297–16.480 6.255–17.577 6.160–15.667 6.594–14.092 6.016–17.905
Gender of child participants
 N-Miss 0 0 0 0 0 0 0 0 0 0 0 0 0 0
 Female 8 (22.2%) 3 (15.0%) 2 (20.0%) 19 (36.5%) 4 (30.8%) 9 (39.1%) 6 (37.5%) 11 (52.4%) 27 (38.6%) 6 (26.1%) 7 (58.3%) 2 (12.5%) 4 (40.0%) 108 (33.5%)
 Male 28 (77.8%) 17 (85.0%) 8 (80.0%) 33 (63.5%) 9 (69.2%) 14 (60.9%) 10 (62.5%) 10 (47.6%) 43 (61.4%) 17 (73.9%) 5 (41.7%) 14 (87.5%) 6 (60.0%) 214 (66.5%)
ND-CNV Inheritance status
 N-Miss 19 (52.8%) 12 (60.0%) 5 (50.0%) 36 (69.2%) 11 (84.6%) 17 (73.9%) 10 (62.5%) 14 (66.7%) 14 (20.0%) 12 (52.2%) 8 (66.7%) 9 (56.2%) 6 (60.0%) 173 (53.7%)
 De Novo 1 (2.8%) 1 (5.0%) 1 (10.0%) 12 (23.1%) 2 (15.4%) 1 (4.3%) 0 (0.0%) 1 (4.8%) 51 (72.9%) 1 (4.3%) 4 (33.3%) 4 (25.0%) 0 (0.0%) 79 (24.5%)
 Inherited 16 (44.4%) 7 (35.0%) 4 (40.0%) 4 (7.7%) 0 (0.0%) 5 (21.7%) 6 (37.5%) 6 (28.6%) 5 (7.1%) 10 (43.5%) 0 (0.0%) 3 (18.8%) 4 (40.0%) 70 (21.7%)
(C) Cognition
Full-scale IQ
 N-Miss 8 2 1 4 1 2 1 0 9 2 5 4 2 41
 Mean (s.d.) 80.964 (11.983) 73.389 (12.971) 91.667 (19.545) 76.542 (11.265) 81.667 (12.666) 79.381 (12.742) 78.200 (11.143) 86.286 (17.559) 74.902 (10.957) 86.476 (17.102) 60.143 (13.031) 80.417 (16.665) 82.000 (13.586) 78.811 (14.077)
 Range 53.000–103.000 55.000–102.000 55.000–116.000 56.000–116.000 60.000–103.000 53.000–101.000 63.000–105.000 53.000–128.000 54.000–100.000 56.000–114.000 50.000–80.000 65.000–127.000 66.000–107.000 50.000–128.000
Performance IQ
 N-Miss 6 2 1 3 1 2 1 0 8 2 3 5 2 36
 Mean (s.d.) 87.600 (13.992) 77.889 (12.778) 96.889 (18.537) 84.796 (11.923) 82.000 (11.878) 82.000 (10.950) 80.200 (9.221) 90.810 (16.482) 76.774 (10.659) 90.524 (20.707) 62.889 (12.036) 85.636 (17.408) 87.000 (14.031) 83.000 (14.695)
 Range 57.000–124.000 56.000–106.000 62.000–115.000 63.000–119.000 64.000–104.000 58.000–102.000 69.000–103.000 58.000–126.000 57.000–106.000 57.000–127.000 53.000–84.000 69.000–132.000 72.000–111.000 53.000–132.000
Verbal IQ
 N-Miss 7 1 1 4 1 2 1 0 9 2 5 3 2 38
 Mean (s.d.) 77.586 (11.425) 72.789 (12.809) 87.778 (17.448) 72.375 (12.006) 84.250 (12.664) 80.429 (17.066) 80.800 (15.599) 84.238 (17.490) 77.098 (12.416) 84.905 (13.707) 61.857 (11.725) 77.615 (15.441) 80.250 (13.833) 77.986 (14.354)
 Range 55.000–103.000 55.000–101.000 55.000–113.000 55.000–110.000 63.000–101.000 55.000–107.000 60.000–120.000 55.000–123.000 55.000–100.000 62.000–112.000 55.000–80.000 58.000–117.000 64.000–101.000 55.000–123.000
(D) Developmental behaviour checklist
Total behavioural problems score
 N-Miss 0 0 0 0 0 0 0 0 0 0 0 0 0 0
 Mean (s.d.) 80.111 (29.871) 71.300 (26.160) 72.400 (41.762) 51.115 (24.463) 67.846 (26.655) 78.087 (27.624) 72.625 (31.256) 69.952 (21.388) 44.286 (26.107) 64.652 (32.109) 67.500 (21.000) 71.750 (19.485) 56.300 (28.414) 62.450 (29.622)
 Range 16.000–130.000 27.000–125.000 17.000–139.000 2.000–102.000 34.000–108.000 17.000–121.000 13.000–157.000 19.000–108.000 4.000–115.000 10.000–121.000 31.000–99.000 32.000–105.000 9.000–94.000 2.000–157.000
Disruptive/antisocial subscale
 N-Miss 0 0 0 0 0 0 0 0 0 0 0 0 0 0
 Mean (s.d.) 26.083 (13.622) 23.400 (10.995) 26.500 (15.953) 15.635 (8.682) 23.769 (11.300) 29.087 (12.007) 27.000 (11.989) 21.429 (9.442) 14.929 (10.220) 21.609 (12.752) 19.000 (9.420) 23.375 (9.598) 17.300 (9.934) 20.689 (11.901)
 Range 7.000–49.000 8.000–43.000 3.000–47.000 1.000–38.000 12.000–44.000 4.000–48.000 5.000–53.000 6.000–39.000 1.000–42.000 2.000–45.000 6.000–33.000 9.000–47.000 2.000–30.000 1.000–53.000
Self-absorbed subscale
 N-Miss 0 0 0 0 0 0 0 0 0 0 0 0 0 0
 Mean (s.d.) 25.139 (11.248) 23.200 (10.390) 23.300 (16.042) 15.712 (9.456) 20.769 (8.946) 24.087 (10.867) 22.500 (11.564) 22.571 (10.225) 12.843 (9.165) 21.435 (11.599) 25.500 (7.116) 25.125 (8.563) 16.900 (10.300) 19.708 (11.123)
 Range 6.000–51.000 3.000–47.000 3.000–54.000 0.000–35.000 9.000–35.000 1.000–41.000 0.000–50.000 3.000–41.000 1.000–37.000 6.000–48.000 15.000–36.000 11.000–41.000 0.000–33.000 0.000–54.000
Communication disturbance subscale
 N-Miss 0 0 0 0 0 0 0 0 0 0 0 0 0 0
 Mean (s.d.) 11.556 (4.398) 10.300 (4.473) 10.800 (5.653) 7.635 (3.881) 10.077 (6.184) 10.478 (4.450) 9.188 (6.014) 10.048 (3.775) 6.514 (4.089) 9.174 (6.322) 12.250 (4.224) 10.625 (4.440) 9.100 (5.626) 9.106 (4.907)
 Range 1.000–21.000 2.000–18.000 1.000–19.000 0.000–16.000 1.000–18.000 1.000–18.000 0.000–24.000 2.000–16.000 0.000–17.000 0.000–21.000 3.000–17.000 1.000–18.000 0.000–19.000 0.000–24.000
Anxiety subscale
 N-Miss 0 0 0 0 0 0 0 0 0 0 0 0 0 0
 Mean (s.d.) 9.611 (4.544) 7.450 (4.298) 6.100 (4.306) 6.558 (3.765) 6.077 (3.904) 8.826 (3.099) 7.562 (3.898) 7.619 (3.853) 5.886 (4.221) 6.870 (4.192) 5.333 (4.008) 7.125 (4.161) 8.300 (4.620) 7.115 (4.187)
 Range 0.000–17.000 0.000–16.000 1.000–14.000 0.000–16.000 0.000–13.000 3.000–14.000 1.000–15.000 1.000–15.000 0.000–18.000 0.000–13.000 1.000–13.000 0.000–14.000 0.000–14.000 0.000–18.000
Social relating subscale
 N-Miss 0 0 0 0 0 0 0 0 0 0 0 0 0 0
 Mean (s.d.) 7.722 (3.677) 6.950 (3.379) 5.700 (3.860) 5.577 (4.336) 7.154 (4.543) 5.609 (3.115) 6.375 (4.129) 8.286 (3.452) 4.114 (3.573) 5.565 (3.203) 5.417 (3.029) 5.500 (2.921) 4.700 (2.111) 5.832 (3.806)
 Range 0.000–15.000 0.000–12.000 0.000–12.000 0.000–15.000 0.000–15.000 0.000–11.000 1.000–15.000 2.000–14.000 0.000–16.000 0.000–11.000 1.000–10.000 0.000–13.000 1.000–8.000 0.000–16.000
(E) Health-Related variables
Participants taking psychiatric or epilepsy medication
 N-Miss 0 0 0 0 0 0 0 0 0 0 0 0 0 0
 No 30 (83.3%) 19 (95.0%) 9 (90.0%) 45 (86.5%) 12 (92.3%) 17 (73.9%) 14 (87.5%) 19 (90.5%) 67 (95.7%) 20 (87.0%) 11 (91.7%) 13 (81.2%) 10 (100.0%) 286 (88.8%)
 Yes 6 (16.7%) 1 (5.0%) 1 (10.0%) 7 (13.5%) 1 (7.7%) 6 (26.1%) 2 (12.5%) 2 (9.5%) 3 (4.3%) 3 (13.0%) 1 (8.3%) 3 (18.8%) 0 (0.0%) 36 (11.2%)
Congenital heart problems
 N-Miss 0 0 0 2 0 1 0 2 0 1 0 0 2 8
 No 33 (91.7%) 18 (90.0%) 9 (90.0%) 45 (90.0%) 12 (92.3%) 19 (86.4%) 14 (87.5%) 15 (78.9%) 37 (52.9%) 17 (77.3%) 8 (66.7%) 13 (81.2%) 7 (87.5%) 247 (78.7%)
 Yes 3 (8.3%) 2 (10.0%) 1 (10.0%) 5 (10.0%) 1 (7.7%) 3 (13.6%) 2 (12.5%) 4 (21.1%) 33 (47.1%) 5 (22.7%) 4 (33.3%) 3 (18.8%) 1 (12.5%) 67 (21.3%)
History of epileptic fits
 N-Miss 0 0 0 2 0 0 0 1 1 0 1 0 0 5
 No 25 (69.4%) 18 (90.0%) 10 (100.0%) 36 (72.0%) 12 (92.3%) 23 (100.0%) 14 (87.5%) 15 (75.0%) 56 (81.2%) 21 (91.3%) 11 (100.0%) 10 (62.5%) 9 (90.0%) 260 (82.0%)
 Yes 11 (30.6%) 2 (10.0%) 0 (0.0%) 14 (28.0%) 1 (7.7%) 0 (0.0%) 2 (12.5%) 5 (25.0%) 13 (18.8%) 2 (8.7%) 0 (0.0%) 6 (37.5%) 1 (10.0%) 57 (18.0%)
Born prematurely (<37 Weeks)
 N-Miss 2 2 1 2 0 4 1 3 4 0 0 0 2 21
 Early 16 (47.1%) 9 (50.0%) 5 (55.6%) 22 (44.0%) 6 (46.2%) 9 (47.4%) 12 (80.0%) 7 (38.9%) 34 (51.5%) 11 (47.8%) 5 (41.7%) 9 (56.2%) 4 (50.0%) 149 (49.5%)
 Not Early 18 (52.9%) 9 (50.0%) 4 (44.4%) 28 (56.0%) 7 (53.8%) 10 (52.6%) 3 (20.0%) 11 (61.1%) 32 (48.5%) 12 (52.2%) 7 (58.3%) 7 (43.8%) 4 (50.0%) 152 (50.5%)
Child part of multiple birth
 N-Miss 1 1 0 2 0 2 2 4 2 0 0 0 0 14
 No 34 (97.1%) 19 (100.0%) 10 (100.0%) 49 (98.0%) 13 (100.0%) 21 (100.0%) 14 (100.0%) 16 (94.1%) 66 (97.1%) 23 (100.0%) 12 (100.0%) 15 (93.8%) 10 (100.0%) 302 (98.1%)
 Yes 1 (2.9%) 0 (0.0%) 0 (0.0%) 1 (2.0%) 0 (0.0%) 0 (0.0%) 0 (0.0%) 1 (5.9%) 2 (2.9%) 0 (0.0%) 0 (0.0%) 1 (6.2%) 0 (0.0%) 6 (1.9%)
Fertility treatment used during pregnancy
 N-Miss 2 2 0 5 0 2 2 4 2 0 0 0 0 19
 No 30 (88.2%) 17 (94.4%) 10 (100.0%) 42 (89.4%) 13 (100.0%) 21 (100.0%) 13 (92.9%) 17 (100.0%) 65 (95.6%) 22 (95.7%) 11 (91.7%) 15 (93.8%) 10 (100.0%) 286 (94.4%)
 Yes 4 (11.8%) 1 (5.6%) 0 (0.0%) 5 (10.6%) 0 (0.0%) 0 (0.0%) 1 (7.1%) 0 (0.0%) 3 (4.4%) 1 (4.3%) 1 (8.3%) 1 (6.2%) 0 (0.0%) 17 (5.6%)
Prolonged labour
 N-Miss 3 3 1 3 1 3 2 4 3 0 0 0 0 23
 No 27 (81.8%) 15 (88.2%) 9 (100.0%) 44 (89.8%) 12 (100.0%) 16 (80.0%) 12 (85.7%) 14 (82.4%) 59 (88.1%) 20 (87.0%) 11 (91.7%) 14 (87.5%) 8 (80.0%) 261 (87.3%)
 Yes 6 (18.2%) 2 (11.8%) 0 (0.0%) 5 (10.2%) 0 (0.0%) 4 (20.0%) 2 (14.3%) 3 (17.6%) 8 (11.9%) 3 (13.0%) 1 (8.3%) 2 (12.5%) 2 (20.0%) 38 (12.7%)
Birth by caesarean section
 N-Miss 1 1 1 2 0 2 3 4 2 1 0 0 0 17
 No 23 (65.7%) 16 (84.2%) 8 (88.9%) 31 (62.0%) 8 (61.5%) 15 (71.4%) 10 (76.9%) 8 (47.1%) 49 (72.1%) 12 (54.5%) 9 (75.0%) 12 (75.0%) 9 (90.0%) 210 (68.9%)
 Yes 12 (34.3%) 3 (15.8%) 1 (11.1%) 19 (38.0%) 5 (38.5%) 6 (28.6%) 3 (23.1%) 9 (52.9%) 19 (27.9%) 10 (45.5%) 3 (25.0%) 4 (25.0%) 1 (10.0%) 95 (31.1%)
Child spent time in a special care baby unit
 N-Miss 1 2 1 4 0 3 2 4 4 1 1 1 0 24
 No 31 (88.6%) 15 (83.3%) 7 (77.8%) 43 (89.6%) 12 (92.3%) 17 (85.0%) 11 (78.6%) 14 (82.4%) 40 (60.6%) 16 (72.7%) 8 (72.7%) 13 (86.7%) 9 (90.0%) 236 (79.2%)
 Yes 4 (11.4%) 3 (16.7%) 2 (22.2%) 5 (10.4%) 1 (7.7%) 3 (15.0%) 3 (21.4%) 3 (17.6%) 26 (39.4%) 6 (27.3%) 3 (27.3%) 2 (13.3%) 1 (10.0%) 62 (20.8%)
Child spent time in an incubator
 N-Miss 2 2 1 3 0 2 3 4 3 0 0 1 0 21
 No 33 (97.1%) 12 (66.7%) 7 (77.8%) 43 (87.8%) 12 (92.3%) 18 (85.7%) 10 (76.9%) 16 (94.1%) 43 (64.2%) 17 (73.9%) 7 (58.3%) 13 (86.7%) 9 (90.0%) 240 (79.7%)
 Yes 1 (2.9%) 6 (33.3%) 2 (22.2%) 6 (12.2%) 1 (7.7%) 3 (14.3%) 3 (23.1%) 1 (5.9%) 24 (35.8%) 6 (26.1%) 5 (41.7%) 2 (13.3%) 1 (10.0%) 61 (20.3%)