Table 1:
Comparison of clinical features in the present study vs. prior published studies in the literature
| Present Study | Miguet et al. 2018 | Lim et al. 2017 | Van Esch et al. 2005 | |
|---|---|---|---|---|
| Number of patients | 48 | 59 | 56 | 13 |
| Gender | 43 male/5 female | 59 male | 49 male/7 female | 13 male |
| Age at Diagnosis | 4.16 years (50 months) | 10 years (120 months) | 36 months/male; 24 months/female | NR |
| Age at Exam/self-report | 9.01 years | 11.7 years | 7.9 years | |
| Abnormal development in first 6 months of life | 31/48 (65%) | NR | NR | NR |
| Hypotonia | 42/48 (88%) | 57/58 (98.3%) | 31/48 (64.6%) male; 4/7 (57.1%) female | 12/12 (100%) |
| Recurrent Infections | 27/48 (56%) | 49/55 (89.1%) | 38/49 (77.6%) males; 3/7 (42.9%) females | 5/9 (55.6%) |
| Seizures | 21/48 (43.8%) | 35/59 (59.3%) | 21/49 (42.9%) male; 3/6 (50.0%) female | 4/9 (44.4%) |
| Constipation | 39/48 (81%) | 43/55 (78.2%) | 39/49 (79.6%) | 0/12 (0%) |
| Reflux | 21/48 (44%) | 34/51 (66.7%) | 26/49 (53.1%) male; 3/7 (42.9%) female | NR |
| Drooling | 37/48 (77%) | 40/50 (80.0%) | NR | NR |
| Vasomotor Disturbances | 35/48 (73%) | 15/31 (48.4%) | NR | NR |
| Breathing Disturbances | 12/48 (25%) | NR | NR | NR |
| Scoliosis and/or Kyphosis | 9/48 (19% with scoliosis as a diagnosis) | 23/43 (53.5%) - includes scoliosis and/or kyphosis | 10/46 (21.7%) males; 0/5 (0%) female (scoliosis) | NR |
| Anxiety | 14/48 (29%) | NR | NR | NR |
| Sleep problems | 27/48 (43.8%) | NR | 13/48 (27.1%) male; 1/7 (14,3%) female | NR |
| Bruxism | 34/48 (71%) | 33/46 (71.7%) | 80% | NR |
| Regression | 12/48 (25%) | 12/31 (38.7%) (post seizure onset) | NR | NR |
| High Pain Tolerance | 32/48 (67%) | 29/37 (78.4%) | 25/50 (50.0%) | NR |
| Low activity for age | 29/48 (60%) | NR | NR | NR |
| Irritability | 28/48 (58%) | NR | NR | NR |
| Early Death (before age 25 years) | 2/48 (4%) | 9/59 (15.3%) | NR | 6/11 (54.5%) |