Table 4: Studies reporting level of developmental delay in individuals with Cornelia de Lange syndrome
Table 4. Studies reporting level of developmental delay in individuals with Cornelia de Lange syndrome 1
Study
Participant characteristics
Assessment
Individuals scoring within categories of developmental delay
n (%)
N
Age in years
Mean (SD)
range
% Male
Molecular confirmation
Profound
Severe
Moderate
Mild
Borderline
Normal
Bhuiyan et al. (2006)
36
N/A
N/A
Yes
VABS
19
(53%)
6
(16.5%)
6
(16.5%)
4
(11%)
1
(3%)
---
Marchisio et al. (2008)
50
Median: 6.5
1-18
46.0
No
Categorised based on language and cognition
---
20
(40%)
24
(48%)
6
(12%)
---
---
Moss et al. (2008)
34
12.4 (3.8)
5-18.96
47.2
No
VABS
9
(26%)
16
(47%)
6
(18%)
3
(9%)
0
(0%)
---
Nakanishi et al. (2013)
66
14.7
4 – 44
47.0
No
VABS
9
(14%)
3
(4%)
9
(14%)
35
(53%)
10
(15%)
---
Oliver et al. (2009)
54
13.9 (9.0)
46
No
VABS
27
(50%)
13
(24%)
8
(15%)
6
(11%)
---
---
Richards et al. (2009)
12
11.0 (5.2)
5.0-18.0
33.3
No
VABS
---
4
(33%)
5
(42%)
3
(25%)
---
---
Selicorni et al. (2007)
62
12.0
0.5-48.0
61.3
Yes
Unknown
16
(26%)
0
(0%)
36
(58%)
5
(8%)
---
---
Wulffaert et al. (2009)
37
18.1 (13.0)
1.4 – 46.2
56.8
Yes
VABS
19
(51%)
6
(16%)
6
(16%)
5
(14%)
1
(3%)
---
Yan et al. (2006)
28
10.9
3–27
53.6
Yes
Based on criteria from Gillis et al. (2004)
---
15
(54%)
9
(32%)
4
(14%)
---
---
Mean (SD); range
Basile et al. (2007)
56
10.6 (8.5)
1-31
51.8
No
VABS
AE (years) = 3.5 (2.9) 1.5–11
Crawford et al. (2015)
15
18.4 (9.8)
6.7-33.4
53.3
No
VABS
SS = 60 (25); 21–121
Kline et al. (1993)
36
3.2 – 19.0
N/A
No
VABS
SS = 48; 20–87
Moss et al. (2005)
8
9.8
4.3-14.3
62.5
No
VABS
AE (months) = 25; 6–47
Oliver et al. (2006)
16
7.6
1.7-16.1
56.3
No
VABS
AE (months) = 11.6 (4.9); 4–23
Srivastava et al. (2014)
41
11.4 (3.8)
5–18
43.9
No
VABS
SS = 38.3 (23.1)
AE = Age Equivalence; SS = Standard Score; VABS= Vineland Adaptive Behavior Scales
- ^ Inclusion criteria for studies varied and may explain in part differences in scoring results
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