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Tabel 4. Onderzoeken die het niveau van ontwikkelingsachterstand bij individuen met Cornelia de Lange syndroom rapporteren

 
For parents, caregivers, health care providers, and teachers, concerns and questions often arise regarding the care and well-being of individuals with syndrome de Cornelia de Lange (SCDL). 

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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