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

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 Cornelia de Lange syndrome. 

Tabel 4. Onderzoeken die het niveau van ontwikkelingsachterstand bij individuen met Cornelia de Lange syndroom rapporteren 1

Onderzoek

Deelnemerkenmerken

Beoordeling

Individuen die scoorden binnen categorieën van ontwikkelingsachterstand

n (%)

N

Leeftijd in jaren

Gemiddelde (SD)

bereik

% Mannelijk

Moleculaire bevestiging

Zeer ernstig

Ernstig

Matig

Licht

Grensgeval

Normaal

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 (leeftijds; SS = Standard Score; VABS= Vineland Adaptive Behavior Scales

  1. ^ Inclusie criteria voor de onderzoeken varieerden, wat deels het verschil in scoringsresultaten kan verklaren


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