Table 3. Studies reporting level of intellectual disability in individuals with Cornelia de Lange syndrome.
Table 3. Studies reporting level of intellectual disability in individuals with Cornelia de Lange syndrome.1
Study
Participant characteristics
Assessment
Individuals scoring within categories of intellectual disability
n (%)
N
Age in years
Mean (SD)
range
% Male
Molecular confirmation
Profound
Severe
Moderate
Mild
Borderline
Normal
Ajmone et al. (2014)
17
8.2
2.5-13.4
47.1
Yes
LIPS-R, GS
2
(12%)
0
(0%)
4
(23%)
1
(6%)
2
(12%)
3
(17%)
Basile et al. (2007)
56
10.6 (8.5)
1-31
51.8
No
LIPS-R, WS,
SBIS; GS
12
(21%)
15
(27%)
15
(27%)
5
(9%)
7
(12%)
2
(4%)
Beck (1987)
36
Median: 16
N/A
No
Unknown
14
(39%)
5
(14%)
7
(19%)
6
(17%)
2
(6%)
2
(6%)
Berney, Ireland
& Burns (1999)
49
10.2 (7.8)
42.9
No
Unknown
(43%)
(20%)
(18%)
(8%)
(10%)
---
Kline et al. (2007)
49
17.8
11–50
71.4
53% received molecular testing
Medical records
---
(51%)
(24%)
(16%)
(6%)
(4%)
Olioso et al. (2009)
45
22.4
51.1
No
Unknown
---
24
(53%)
17
(38%)
4
(9%)
---
---
Sarimski (1997)
27
7.1 (4.9)
1–16
44.4
No
Estimated from parental report
---
19
(70%)
8
(30%)
---
---
---
Mean (SD); range
Fraser et al., (1978)
6
14-22
100.0
No
SBIS; LIPS
IQ = <30–54)
Kline et al. (1993)
14
3.2 – 19.0
N/A
No
SBIS; MSCA; WISC-R;
WPPSI-R
IQ = 53; 30–85
Lorusso et al. (2007)
6
14.8 (13.1)
16.7
No
WPPSI, WISC-R, WAIS-R
IQ = 63.8 (17.7) 47–95
Moeschler & Graham (1993)
3
0.8-13
100.0
No
Unknown; SBIS; WISC
IQ = 63–66
Parisi, Di Filippo & Roccella (2015)
Huisman (2017)
4
39(SMC1A)
67(NIPBL)
5.25
4–5
Median13
0-46
Median 14 0-46
75.0
27.5
50.7
No
Yes
Yes
WPPSI
physician report
physician report
VIQ = 52.8; 45–58. PIQ = 61.3; 51–66
1/20 5/20 8/20 4/20 --- 2/20
(5%) (25%) (40%) (20%) (10%)
11/58 27/58 16/58 4/58 --- 0/58
(19%) (47%) (28%) (7%) (0%)
VIQ = Verbal IQ; PIQ = Performance IQ; GS = Griffiths’ Scale; LIPS-R = Leiter International Performance Scales-Revised; MSCA = McCarthy Scales of Children’s Abilities; SBIS = The Standford-Binet Intelligence Scale; WS = Welchsler Scales); WAIS-R = Wechsler Adult Intelligence Scale-Revised; WISC-R = Wechsler Intelligence Scale for Children – Revised; WPPSI = Wechsler Preschool Performance Scale of Intelligence; WPPSI-R = Wechsler Preschool Performance Scale of Intelligence - Revised.
- ^
Inclusion criteria for studies varied and may explain in part differences in scoring results
- 5 participants were unable to be assessed for reasons not given.
- 8 participants were unable to be formally assessed due to level of disability.
- 3 participants were unable to be assessed for reasons not given
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