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%) | --- | --- | --- | |
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|
|
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%) | ||||||
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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.
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Inclusion criteria for studies varied and may explain in part differences in scoring results
- 5 participants were unable to be assessed for reasons not given.
- 8 participants were unable to be formally assessed due to level of disability.
- 3 participants were unable to be assessed for reasons not given
