Informação

Table 4.


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

  1. ^ Inclusion criteria for studies varied and may explain in part differences in scoring results
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Adapted from: Kline, A. D., Moss, J. F., Selicorni, A., Bisgaard, A., Deardorff, M. A., Gillett, P. M., Ishman, S. L., Kerr, L. M., Levin, A. V., Mulder, P. A., Ramos, F. J., Wierzba, J., Ajmone, P.F., Axtell, D., Blagowidow, N., Cereda, A., Costantino, A., Cormier-Daire, V., FitzPatrick, D., Grados, M., Groves, L., Guthrie, W., Huisman, S., Kaiser, F. J., Koekkoek, G., Levis, M., Mariani, M., McCleery, J. P., Menke, L. A., Metrena, A., O’Connor, J., Oliver, C., Pie, J., Piening, S., Potter, C. J., Quaglio, A. L., Redeker, E., Richman, D., Rigamonti, C., Shi, A., Tümer, Z., Van Balkom, I. D. C. and Hennekam, R. C. (2018).

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