Table 5.
Comparison of CNVs and clinical features of patients with both unexplained intellectual disability/global developmental delay and epilepsy.
| Clinical feature | Copy number variation results | Overall (N = 84) | P-value | |
|---|---|---|---|---|
| Pathogenic (n = 28) | Benign (n = 56) | |||
| Onset of seizures at 30 months and above | 46.4% (13/28) | 32.1% (18/56) | 36.9% (31/84) | 0.201 |
| Intellectual disability onset at 3.5 months and above | 35.7% (10/28) | 55.4% (31/56) | 48.8% (41/84) | 0.090 |
| Age of mother 35 years and above | 11.1% (3/27) | 9.3% (5/54) | 9.9% (8/81) | 0.792 |
| Age of father 35 years and above | 11.1% (3/27) | 14.0% (7/50) | 13.0% (10/77) | 1.000 |
| Birth weight < 2,500 g | 17.9% (5/28) | 7.4% (4/54) | 11.0% (9/82) | 0.262 |
| Birth weight > 4,000 g | 7.1% (2/28) | 5.5% (3/55) | 6.0% (5/84) | 1.000 |
| Prematurity < 37 weeks GA | 0.0% (0/28) | 7.3% (4/55) | 4.8% (4/83) | 0.295 |
| Intrauterine growth restriction | 17.9% (5/28) | 5.6% (3/54) | 9.8% (8/82) | 0.115 |
| Hypoxia | 21.4% (6/28) | 20.0% (11/55) | 20.5% (17/83) | 0.879 |
| Consanguineous family | 0.0% (0/28) | 1.8% (1/55) | 1.2% (1/83) | 1.000 |
| Prenatal complications | 46.4% (13/28) | 36.4% (20/55) | 39.8% (33/83) | 0.376 |
| Family history of EP/ID/both | 35.7% (10/28) | 38.2% (21/55) | 37.3% (31/83) | 0.826 |
| Past history of other illnesses prior to diagnosis of both EP and ID | 64.3% (18/28) | 50.0% (28/56) | 54.8% (46/84) | 0.215 |
| Primigravida mother | 28.6% (8/28) | 32.7% (18/55) | 31.3% (26/83) | 0.700 |
| Speech and language delay >2 years | 70.8% (17/24) | 43.1% (22/51) | 52.0% (39/75) | 0.025 |
| Microcephaly | 42.9% (12/28) | 17.9% (10/56) | 26.2% (22/84) | 0.014 |
| Macrocephaly | 3.6% (1/28) | 0.0% (0/56) | 1.2% (1/84) | 0.333 |
| Facial malformations | 75.0% (21/28) | 33.9% (19/56) | 47.6% (40/84) | 0.000 |
| Skeletal malformations | 17.9% (5/28) | 8.9% (5/56) | 11.9% (10/84) | 0.234 |
| Brachydactyly | 3.6% (1/28) | 0.0% (0/56) | 1.2% (1/84) | 0.333 |
| Depigmented skin spots | 7.1% (2/28) | 7.1% (4/56) | 7.1% (6/84) | 1.000 |
| Fair skin | 10.7% (3/28) | 0.0% (0/56) | 3.6% (3/84) | 0.034 |
| Café au lait spots | 3.6% (1/28) | 10.7% (6/56) | 8.3% (7/84) | 0.416 |
| Hearing impairment | 10.7% (3/28) | 7.1% (4/56) | 8.3% (7/84) | 0.681 |
| Ear malformations | 10.7% (3/28) | 10.7% (6/56) | 10.7% (9/84) | 1.000 |
| Eye malformations (impairment, strabismus and nystagmus) | 25.0% (7/28) | 7.1% (4/56) | 13.1% (11/84) | 0.037 |
| Congenital heart disease | 28.6% (8/28) | 5.4% (3/56) | 13.1% (11/84) | 0.005 |
| Genital malformations | 10.7% (3/28) | 8.9% (5/56) | 9.5% (8/84) | 1.000 |
| Umbilical hernia | 0.0% (0/28) | 1.8% (1/56) | 1.2% (1/84) | 1.000 |
| Hypotonia | 7.1% (2/28) | 7.1% (4/56) | 7.1% (6/84) | 1.000 |
| Hypertonia | 7.1% (2/28) | 5.4% (3/56) | 6.0% (5/84) | 1.000 |
| Hyperreflexia | 7.1% (2/28) | 5.4% (3/56) | 6.0% (5/84) | 1.000 |
| Hyporeflexia | 3.6% (1/28) | 8.9% (5/56) | 7.1% (6/84) | 0.658 |
| Abnormal power/strength | 7.1% (2/28) | 3.6% (2/56) | 4.8% (4/84) | 0.598 |
| Positive Babinski sign | 3.6% (1/28) | 7.1% (4/56) | 6.0% (5/84) | 0.661 |
| Positive clonus test | 0.0% (0/28) | 1.8% (1/56) | 1.2% (1/84) | 1.000 |
| Abnormal behaviors | 46.4% (13/28) | 30.4% (17/56) | 35.7% (30/84) | 0.147 |
| CHARACTER OF SEIZURES | ||||
| Tonic seizure | 57.1% (16/28) | 50.0% (28/56) | 52.4% (44/84) | 0.537 |
| Myoclonic seizure | 7.1% (2/28) | 3.6% (2/56) | 4.8% (4/84) | 0.598 |
| Spasm seizure | 10.7% (3/28) | 3.6% (2/56) | 6.0% (5/84) | 0.327 |
| Partial seizure | 39.3% (11/28) | 37.5% (21/56) | 38.1% (32/84) | 0.834 |
| Clonic seizure | 3.6% (1/28) | 0.0% (0/56) | 1.2% (1/84) | 0.333 |
| Seizure controlled with one AED | 35.7% (10/28) | 41.1% (23/56) | 39.3% (33/84) | 0.636 |
| Seizure controlled by two AED | 14.3% (4/28) | 5.4% (3/56) | 8.3% (7/84) | 0.215 |
| Fever-related | 28.6% (8/28) | 18.2% (10/55) | 21.7% (18/83) | 0.278 |
| Seizure control after 3 months | 50.0% (14/28) | 50.0% (28/56) | 50.0% (42/84) | 1.000 |
| EEG FINDINGS | ||||
| Abnormal EEG | 92.9% (26/28) | 94.6% (53/56) | 94.0% (79/84) | 0.744 |
| Hypsarrhythmia | 3.6% (1/28) | 5.4% (3/56) | 4.8% (4/84) | 1.000 |
| Focal discharge | 25.0% (7/28) | 14.3% (8/56) | 17.9% (15/84) | 0.227 |
| Sharp wave | 32.1% (9/28) | 28.6% (16/56) | 29.8% (25/84) | 0.736 |
| Spike wave | 46.4% (13/28) | 46.4% (26/56) | 46.4% (39/84) | 1.000 |
| Slow waves | 14.3% (4/28) | 19.6% (11/56) | 17.9% (15/84) | 0.764 |
| Continuous epileptic activity | 7.1% (2/28) | 14.3% (8/56) | 11.9% (10/84) | 0.484 |
| Right hemisphere origin | 3.6% (1/28) | 12.5% (7/56) | 9.5% (8/84) | 0.259 |
| Left hemisphere origin | 7.1% (2/28) | 17.9% (10/56) | 14.3% (12/84) | 0.321 |
| Both hemisphere origin | 82.1% (23/28) | 62.5% (35/56) | 69.0% (58/84) | 0.066 |
| Sleep stage | 35.7% (10/28) | 39.3% (22/56) | 38.1% (32/84) | 0.751 |
| Awake stage | 3.6% (1/28) | 14.3% (8/56) | 10.7% (9/84) | 0.260 |
| Both sleeping stages | 53.6% (15/28) | 39.3% (22/56) | 44.0% (37/84) | 0.214 |
| Occipital lobe origin | 10.7% (3/28) | 10.7% (6/56) | 10.7% (9/84) | 1.000 |
| Frontal lobe origin | 42.9% (12/28) | 41.1% (23/56) | 41.7% (35/84) | 0.876 |
| Temporal lobe origin | 21.4% (6/28) | 14.3% (8/56) | 16.7% (14/84) | 0.408 |
| Frontal central region | 17.9% (5/28) | 12.5% (7/56) | 14.3% (12/84) | 0.508 |
| Central temporal region | 7.1% (2/28) | 16.1% (9/56) | 13.1% (11/84) | 0.322 |
| MRI/CT SCAN FINDINGS | ||||
| Abnormal MRI/CT scan | 50.0% (14/28) | 46.4% (26/56) | 47.6% (40/84) | 0.757 |
| Brain atrophy | 14.3% (4/28) | 5.4% (3/56) | 8.3% (7/84) | 0.215 |
| Mega cisterna magna | 10.7% (3/28) | 0.0% (0/56) | 3.6% (3/84) | 0.034 |
| Corpus callosum dysplasia | 3.6% (1/28) | 1.8% (1/56) | 2.4% (2/84) | 1.000 |
| Hydrocephalus | 3.6% (1/28) | 0.0% (0/56) | 1.2% (1/84) | 0.333 |
| White matter dysplasia | 3.6% (1/28) | 7.1% (4/56) | 6.0% (5/84) | 0.661 |
| Arachnoid cyst | 3.6% (1/28) | 1.8% (1/56) | 2.4% (2/84) | 1.000 |
| Hippocampal sclerosis | 3.6% (1/28) | 1.8% (1/56) | 2.4% (2/84) | 1.000 |
| SEVERITY OF ID/GDD | ||||
| Severe | 53.6% (15/28) | 57.1% (32/56) | 56% (47/84) | 0.756 |
| Moderate | 42.9% (12/28) | 33.9%(19/56) | 36.9%(31/84) | 0.424 |
| Mild | 3.6% (1/28) | 8.9% (5/56) | 7.1% (6/84) | 0.656 |
MRI, magnetic resonance imaging; CT, computed tomography; EEG, electroencephalogram; AED, antiepileptic drugs; ID, intellectual disability; GDD, global developmental delay.