Table 4 Occurrence and quality of behavioural, psychological, cognitive and sleep characteristics reported in CHARGE syndrome
| Â | Sample Identification | Confirmation of Syndrome | Assessment of Cognition | Assessment of Behaviour | Assessment of Sleep | Quality Weighting: Cognition | Quality weighting: Behaviour | Quality Weighting: Sleep |
|---|---|---|---|---|---|---|---|---|
Abadie et al. [15] | 4 | 2 | 2 | NA | NA | 67% | 67% | NA |
Asher et al. [41] | 2 | 1 | 1 | NA | NA | 33% | NA | NA |
Bernstein and Denno [42] | 2 | 1 | 1 | 2 | NA | 33% | 42% | NA |
Blake and Brown [43] | 2 | 2 | 1 | NA | NA | 42% | NA | NA |
Blake et al. [44] | 3 | 2 | 1 | NA | NA | 50%, | NA | NA |
Blake et al. [19] | 3 | 1 | 1 | 1 | 1 | 42% | 42% | 42% |
Cheng et al. [45] | 2 | 3 | 1 | 1 | 1 | 50% | 50% | 50% |
Dammeyer [46] | 2 | 1 | 3 | NA | 1 | 50% | NA | 33% |
Davenport et al. [47] | 3 | 2 | 2 | NA | NA | 58% | NA | NA |
Deuce et al. [48] | 3 | 1 | 1 | 1 | 1 | NA | 42% | 42% |
Deuce [49] | 2 | 1 | 1 | NA | 1 | 33% | NA | 33% |
Dobbelsteyn et al. [50] | 3 | 1 | 1 | NA | NA | 42% | NA | NA |
Hale et al. [8] | 2 | 4 | 1 | NA | NA | 58% | NA | NA |
Hartshorne et al. [51] | 2 | 1 | NA | NA | 2 | NA | NA | 42% |
Hartshorne et al. [18] | 3 | 1 | 1 | 1 | 1 | 42% | 42% | 42% |
Hartshorne and Cypher [52] | 2 | 1 | NA | 1 | NA | NA | 33% | NA |
Hartshorne et al. [53] | 2 | 1 | NA | 2 | NA | NA | 42% | NA |
Harvey et al. [54] | 2 | 2 | 2 | NA | NA | 50% | 42% | NA |
Hittner et al. [55] | 2 | 1 | 2 | NA | NA | 42% | NA | NA |
Hsu et al. [56] | 2 | 4 | 1 | NA | NA | 58% | NA | NA |
Husu et al. [57] | 3 | 3 | 1 | NA | NA | 58% | NA | NA |
Issekutz et al. [1] | 4 | 2 | NA | 1 | 1 | NA | 58% | 58% |
Johansson et al. [58] | 2 | 2 | 2 | 3 | 1 | 50% | 58% | 42% |
Jongmans et al. [10] | 2 | 3 | 1 | NA | NA | 50% | NA | NA |
Lasserre et al. [59] | 2 | 2 | 3 | NA | NA | 58% | NA | NA |
Legendre et al. [11] | 3 | 3 | 1 | NA | NA | 58% | NA | NA |
Oley et al. [60] | 3 | 2 | 3 | NA | NA | 50% | NA | NA |
Raqbi et al. [61] | 2 | 2 | 1 | NA | NA | 42% | NA | NA |
Reda and Hartshorne [62] | 2 | 1 | NA | 2 | NA | NA | 42% | NA |
Roger et al. [63] | 3 | 2 | 1 | NA | 4 | 50% | NA | 75% |
Salem-Hartshorne and Jacob [64] | 2 | 1 | 2 | NA | NA | 42% | NA | NA |
Shiohama et al. [65] | 2 | 2 | 1 | NA | NA | 42% | NA | NA |
Shoji et al. [66] | 2 | 2 | 1 | NA | NA | 42% | NA | NA |
Smith et al. [67] | 3 | 2 | 1 | 1 | NA | 50% | 50% | NA |
Sohn et al. [68] | 3 | 4 | 3 | NA | NA | 83% | NA | NA |
Souriau et al. [69] | 3 | 1 | NA | 1 | NA | NA | 42% | NA |
Strömland et al. [70] | 2 | 2 | 2 | 3 | NA | 50% | 58% | NA |
Tellier et al. [71] | 3 | 2 | 1 | NA | 4 | 50% | NA | 75% |
Thelin and Fussner [72] | 2 | 1 | NA | 1 | NA | NA | 33% | NA |
Wessels et al. [73] | 2 | 3 | 1 | NA | NA | 50% | NA | NA |
Wincent et al. [74] | 2 | 3 | 1 | NA | NA | 50% | NA | NA |
Wulffaert et al. [17] | 3 | 3 | 2 | NA | NA | 67% | NA | NA |
| Â | Developmental Delay | Intellectual Disability (ID) | Mild or Moderate ID | Severe or Profound ID | Autism Diagnosis | Aggression | Self-Injurious Behaviour | Obsessive or Compulsive Behaviour | Tactile Defensiveness | Sleep Problems |
|---|---|---|---|---|---|---|---|---|---|---|
Abadie et al. [15] | - | 70% (45/64) | 55% (35/64) | 16% (10/64) | 54% (25/46) | - | - | - | - | - |
Asher et al. [41] | - | 100% (14/14) | 50% (7/14) | 50% (7/14) | - | - | - | - | - | - |
Bernstein and Denno [42] | - | 90% (26/29) | 66% (19/29) | 24% (7/29) | - | - | - | 72% (21/29) | - | - |
Blake and Brown [43] | - | 63% (19/30) | - | 33% (10/30) | - | - | - | - | - | - |
Blake et al. [44] | 76% (26/34) | - | - | - | - | - | - | - | - | - |
Blake et al. [19] | 100% (30/30) | - | - | - | 23% (7/30) | 53% (16/30) | 50% (15/30) | 43% (13/30) | 40% (12/31) | 50% (15/30) |
Cheng et al. [45] | - | 90% (9/10) | 78% (7/9) | 11% (1/9) | 22% (2/9) | - | - | - | - | 17% (2/12) |
Dammeyer [46] | - | 18% (3/17) | 18% (3/17) | - | - | - | - | - | - | 88% (15/17) |
Davenport et al. [47] | - | 100% (7/7) | - | - | - | - | - | - | - | - |
Deuce et al. [48] | - | - | - | - | - | - | - | 9% (4/44) | - | 14% (6/44) |
Deuce [49] | - | 40% (21/52) | - | - | - | - | - | - | - | 52% (27/52) |
Dobbelsteyn et al. [50] | 95% (35/37) | - | - | - | - | - | - | - | - | - |
Hale et al. [8] | 100% (23/23) | - | - | - | - | - | - | - | - | - |
Hartshorne et al. [51] | - | - | - | - | - | - | - | - | - | 57% (50/87) |
Hartshorne et al. [18] | 85% (45/53) | - | - | - | 26% (14/53) | 51% (27/53) | 47% (25/53) | 49% (26/53) | 51% (27/53) | 58% (31/53) |
Hartshorne and Cypher [52] | - | - | - | - | 6% (6/100) | 38% (38/100) | 34% (34/100) | 3% (3/100) | 53% (53/100) | - |
Hartshorne et al. [53] | - | - | - | - | 28% (44/160) | - | - | - | - | - |
Harvey et al. [54] | - | 29% (2/7) | 14% (1/7) | 14% (1/7) | - | - | - | - | 29% (2/7) | - |
Hittner et al. [55] | - | 100% (7/7) | - | 71% (5/7) | - | - | - | - | - | - |
Hsu et al. [56] | 100% (20/20) | - | - | - | - | - | - | - | - | - |
Husu et al. [57] | 85% (11/13) | - | - | - | - | - | - | - | - | - |
Issekutz et al. [1] | - | - | - | - | - | - | - | 44% (7/16) | - | 31% (5/16) |
Johansson et al. [58] | - | 79% (22/28) | 36% (10/28) | 43% (12/28) | - | 68% (19/28) | 54% (15/28) | - | - | 29% (8/28) |
Jongmans et al. [10] | - | 74% (23/31) | - | - | 37% (17/46) | - | - | - | - | - |
Lasserre et al. [59] | - | 63% (5/8) | 63% (5/8) | - | - | - | - | - | - | - |
Legendre et al. [11] | - | 66% (63/96) | - | - | 18% (21/117) | - | - | - | - | - |
Oley et al. [60] | - | 60% (12/20) | - | 15% (3/20) | - | - | - | - | - | - |
Raqbi et al. [61] | - | 53% (11/21) | 29% (6/21) | 24% (5/21) | 14% (3/21) | - | - | - | - | - |
Reda and Hartshorne [62] | - | - | - | - | 12% (3/25) | - | - | - | 40% (10/25) | - |
Roger et al. [63] | 74% (28/38) | - | - | - | 13% (6/45) | - | - | - | - | 55% (24/44) |
Salem-Hartshorne and Jacob [64] | - | 46% (46/100) | - | - | 32% (32/100) | - | - | - | - | - |
Shiohama et al. [65] | 100% (10/10) | - | - | - | - | - | - | - | - | - |
Shoji et al. [66] | - | 100% (25/25) | - | - | - | - | - | - | - | - |
Smith et al. [67] | 100% (8/8) | 100% (11/11) | - | - | 60% (6/10) | - | - | - | - | - |
Sohn et al. [68] | - | 94% (17/18) | - | - | - | - | - | - | - | - |
Souriau et al. [69] | - | - | - | - | - | 42% (27/67) | 44% (28/63) | - | - | - |
Strömland et al. [70] | 82% (23/28) | - | - | - | 20% (5/25) | - | - | - | - | - |
Tellier et al. [71] | 100% (47/47) | - | - | - | - | - | - | - | - | 43% (3/7) |
Thelin and Fussner [72] | - | - | - | - | - | 46% (13/28) | - | - | - | - |
Wessels et al. [73] | 100% (9/9) | - | - | - | - | - | - | - | - | - |
Wincent et al. [74] | - | - | - | - | - | - | - | - | - | - |
Wulffaert et al. [17] | 78% (7/9) | 75% (15/20) | 35% (7/20) | 40% (8/20) | - | - | - | - | - | - |