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Tabla 4. Estudios publicados referidos al grado de retraso del desarrollo en pacientes con Síndrome Cornelia de Lange.

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

Tabla 4. Estudios publicados referidos al grado de retraso del desarrollo en pacientes con Síndrome Cornelia de Lange.1

Study

Características del participante

Evaluación

Pacientes puntuadas dentro de las categorías de retraso del desarrollo

n (%)

N

Edad en años:
Media (DE)
Rango

% varones

Confirmación
molecular

Profundo

Grave

Moderado

Leve

Límite

Normal

Bhuiyan et al. (2006)

36

N/A

N/A

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

Categorizado
según lenguaje
y
conocimientod

---

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

Desconocido

16

(26%)

0

(0%)

36

(58%)

5

(8%)

---

---

Wulffaert et al. (2009)

37

18.1 (13.0)

1.4 – 46.2

56.8

VABS

19

(51%)

6

(16%)

6

(16%)

5

(14%)

1

(3%)

---

Yan et al. (2006)

28

10.9

3–27

53.6

Basado en
criterios de
Gillis et al.
(2004)

---

15

(54%)

9

(32%)

4

(14%)

---

---

 

 

 

 

 

 

 

Media (DE)
Rango

 

Basile et al. (2007)

 

56

 

10.6 (8.5)

1-31

 

51.8

 

No

 

VABS

 

AE (años) = 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 (meses) = 25; 6–47

Oliver et al. (2006)

16

7.6

1.7-16.1

56.3

No

VABS

AE (meses) = 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 = Equivalencia de edad; SS = Puntuación estándar; VABS= Escalas Vineland de comportamiento adaptativo

  1. ^ Los criterios de inclusión en los estudios variaron y pueden explicar en parte las diferencias en los resultados de las puntuaciones


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