Table 1 Summary of neurological and cognitive alterations detected in untreated ADA-SCID patients (n = 5) and patients under enzyme replacement therapy (n = 15).
Sex | Neurological alterations | Behavioural and cognitive alterations | dAXP | Consanguineous parents | Age at last evaluation | Years of PEG-ADA at evaluation | |
|---|---|---|---|---|---|---|---|
Untreated patients | |||||||
Patient 1 | F | MRI SS; EEG (1) | 277 | Yes | 2.3 | — | |
Patient 2 | M | MRI SS | Eating disorder | 450 | No | 1.0 | — |
Patient 3 | F | MRI SS | 138 | Yes | 1.5 | — | |
Patient 4 | M | MRI WM + SS; EEG (2); Motor delay (2), hypotonia (1), hyporeflexia (1), VEP latency (1) | Psychomotor retardation, verbal delay; eating disorder and logotherapy | 6* | Yes | 1.1 | — |
Patient 5 | M | MRI WM | 1639 | Yes | 0.3 | — | |
mean years: | 1.2 | ||||||
ADA-SCID patients (<3yrs of age) treated with ERT | |||||||
Patient 6 | F | Hyperactivity and attention deficit | 2 | Yes | 1.4 | 1.1 | |
Patient 7 | M | MRI WM + SS; Coordination deficit (2) | Verbal delay; hyperactivity and attention deficit; eating disorder and PEG from 36th MAB | 5 | No | 1.3 | 0.8 |
Patient 8 | F | MRI WM; Sensorineural hypoacusia (1) | Psychomotor retardation, verbal delay | 23 | Yes | 2.8 | 2.7 |
Patient 9 | M | Motor delay (1) | 0 | No | 1.2 | 0.8 | |
Patient 10 | M | EEG (1) | 0 | Yes | 1.2 | 0.8 | |
Patient 11 | F | VEP latency (1) | 0 | No | 1.8 | 0.4 | |
Patient 12 | M | EEG (1); MRI WM + VV | Hyperactivity | 74 | No | 1.9 | 1.3 |
Patient 13 | M | MRI SS; EEG (1) | 0 | Yes | 0.5 | 0.6 | |
mean years: | 1.5 | 1.1 | |||||
ADA-SCID patients (>3yrs of age) treated with ERT | |||||||
Patient 14 | M | Sensorineural hypoacusia (1) | Verbal deficit; hyperactivity and attention deficit | 5 | Yes | 5.3 | 5.3 |
Patient 15 | M | Sensorineural hypoacusia, requiring hearing device (2) | Verbal deficit | 0 | No | 5.1 | 5.0 |
Patient 16 | M | Motor delay (1); EEG (1), epilepsy, under anti-epileptic treatment; MRI WM + VV; Sensorineural hypoacusia, requiring hearing device (2) | Verbal deficit | 0 | No | 27.0 | 25.5 |
Patient 17 | F | Motor delay (1); EEG (1) | Verbal deficit | 3 | No | 16.0 | 15.9 |
Patient 18 | F | Verbal deficit | 0 | No | 25.0 | 23.2 | |
Patient 19 | M | Anxiety; Verbal deficit; hyperactivity and attention deficit; eating disorder | 0 | Yes | 15.0 | 14.8 | |
Patient 20 | M | Motor delay (2); EEG (2), epilepsy, under anti-epileptic treatment | Verbal deficit | 3 | No | 3.7 | 3.4 |
Patient 21 | M | Verbal deficit; hyperactivity and attention deficit | 0 | Yes | 8.0 | 8.0 | |
mean years: | 13.1 | 12.6 | |||||
