Table 2.
Clinical features of DEE 35 patients
| n/N (%) | |
|---|---|
| Characteristics at clinical presentation | |
| Sex | |
| Male | 12/38 (31.6) |
| Female | 26/38 (68.4) |
| Age at presentation (months), median [1st–3rd quartile] | 3 [1 − 4] |
| Age at first seizure (months), median [1st–3rd quartile] | 4 [2 − 5] |
| No. of presenting signsa | |
| 1 | 15/40 (37.5) |
| 2 | 20/40 (50.0) |
| 3 | 3/40 (7.5) |
| 4 | 2/40 (5.0) |
| Congenital microcephaly | 12/40 (30.0) |
| Developmental delay | 19/40 (47.5) |
| Seizures | 27/40 (67.5) |
| Small for gestational age | 7/34 (20.6) |
| Clinical features | |
| Progressive microcephaly | 36/36 (100) |
| Epilepsy | 39/39 (100) |
| Refractory seizures | 19/28 (67.9) |
| Developmental arrest after seizure onset | 37/38 (97.4) |
| Feeding difficulties | 26/28 (92.9) |
| Progressive hypotonia | 36/37 (97.3) |
| Spasticity | 21/35 (60.0) |
| Movement disorder | 8/24 (33.3) |
| Ocular involvement | 29/35 (82.9) |
| Cataract | 16/28 (57.1) |
| Visual impairment | 5/28 (17.9) |
| Optic atrophy | 2/28 (7.1) |
| Retinal cone dysplasia | 2/28 (7.1) |
| Otherb | 3/28 (10.7) |
| Cardiac involvement | 10/35 (28.6) |
| Dilated cardiomyopathy | 5/10 (50.0) |
| Rhythm disturbances | 4/10 (40.0) |
| Both | 1/10 (10.0) |
| Dysmorphic features | 10/26 (38.5) |
| Hearing impairment | 3/24 (12.5) |
| Life status | |
| Alive | 19/40 (47.5) |
| Death | 21/40 (52.5) |
Abbreviations: DEE 35, developmental and epileptic encephalopathy 35; N, number.
a
Including microcephaly, psychomotor delay, seizures, hypotonia, movement disorder.
b
Strabismus and refractive errors.