Information

Table 3

Table 3. Studies reporting level of intellectual disability in individuals with Cornelia de Lange syndrome.1 

Study

Participant characteristics

Assessment

Individuals scoring within categories of intellectual disability

n (%)

N

Age in years

Mean (SD)

range

% Male

Molecular confirmation

Profound

Severe

Moderate

Mild

Borderline

Normal

Ajmone et al. (2014)

17

8.2

2.5-13.4

47.1

Yes

LIPS-R, GS

2

(12%)

0

(0%)

4

(23%)

1

(6%)

2

(12%)

3

(17%)

Basile et al. (2007)

56

10.6 (8.5)

1-31

51.8

No

LIPS-R, WS,

SBIS; GS

12

(21%)

15

(27%)

15

(27%)

5

(9%)

7

(12%)

2

(4%)

Beck (1987)

36

Median: 16

N/A

No

Unknown

14

(39%)

5

(14%)

7

(19%)

6

(17%)

2

(6%)

2

(6%)

Berney, Ireland

& Burns (1999)

49

10.2 (7.8)

42.9

No

Unknown

(43%)

(20%)

(18%)

(8%)

(10%)

---

Kline et al. (2007)

49

17.8

11–50

71.4

53% received molecular testing

Medical records

---

(51%)

(24%)

(16%)

(6%)

(4%)

Olioso et al. (2009)

45

22.4

51.1

No

Unknown

---

24

(53%)

17

(38%)

4

(9%)

---

---

Sarimski (1997)

27

7.1 (4.9)

1–16

44.4

No

Estimated from parental report

---

19

(70%)

8

(30%)

---

---

---

 

 

 

 

Mean (SD); range

 

Fraser et al., (1978)

 

6

 

14-22

 

100.0

 

No

 

SBIS; LIPS

 

IQ = <30–54)

 

Kline et al. (1993)

14

3.2 – 19.0

N/A

No

SBIS; MSCA; WISC-R;

WPPSI-R

IQ = 53; 30–85

Lorusso et al. (2007)

6

14.8 (13.1)

16.7

No

WPPSI, WISC-R, WAIS-R

IQ = 63.8 (17.7) 47–95

Moeschler & Graham (1993)

3

0.8-13

100.0

No

Unknown; SBIS; WISC

IQ = 63–66

 

Parisi, Di Filippo & Roccella (2015)

Huisman (2017)

4

39(SMC1A)

67(NIPBL)

5.25

4–5

Median13

0-46

Median 14 0-46

75.0

27.5

50.7

 

No

Yes

Yes

WPPSI

physician report

physician report

VIQ = 52.8; 45–58. PIQ = 61.3; 51–66

1/20 5/20 8/20 4/20 --- 2/20

(5%) (25%) (40%) (20%) (10%)

11/58 27/58 16/58 4/58 --- 0/58

(19%) (47%) (28%) (7%) (0%)

 

 

 

 

 

 

 

VIQ = Verbal IQ; PIQ = Performance IQ; GS = Griffiths’ Scale; LIPS-R = Leiter International Performance Scales-Revised; MSCA = McCarthy Scales of Children’s Abilities; SBIS = The Standford-Binet Intelligence Scale; WS = Welchsler Scales); WAIS-R = Wechsler Adult Intelligence Scale-Revised; WISC-R = Wechsler Intelligence Scale for Children – Revised; WPPSI = Wechsler Preschool Performance Scale of Intelligence; WPPSI-R = Wechsler Preschool Performance Scale of Intelligence - Revised.

  1. ^ 

    Inclusion criteria for studies varied and may explain in part differences in scoring results

    1. 5 participants were unable to be assessed for reasons not given.
    2. 8 participants were unable to be formally assessed due to level of disability.
    3. 3 participants were unable to be assessed for reasons not given
Find andre sidder der deles de sammen emne som den side Cornelia de Langes syndrom (CdLS)?2
Antonie D. Kline, Joanna F. Moss, […]Raoul C. Hennekam
Antonie D. Kline, Joanna F. Moss, […]Raoul C. Hennekam

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).

Source:
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Senest ændret af Gerritjan Koekkoek den 2022/09/29 16:10
Oprettet af Gerritjan Koekkoek den 2019/03/27 15:09
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