Table 3. Studies reporting level of intellectual disability in individuals with Cornelia de Lange syndrome.
Eltern, Betreuer, Gesundheitsdienstleister und Lehrer haben oft Bedenken und Fragen zur Pflege und zum Wohlbefinden von Menschen mit Cornelia-de-Lange-Syndrom.
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.
- ^
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
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