Table 4: Studies reporting level of developmental delay in individuals with Cornelia de Lange syndrome
For parents, caregivers, health care providers, and teachers, concerns and questions often arise regarding the care and well-being of 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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