Table III.
Age in years | MeCP2 mutation | X-inactivation | HCc | Walksa | Feeds selfb | ADLSc | Medications | Hd | Rd | Sd | Scd |
---|---|---|---|---|---|---|---|---|---|---|---|
19 | T158M | Random | 54 (35%) | 0 | 0 | 0 | phenobarbital | 1 | 2 | 1 | 1 |
21 | R306C | Skewed | 50 (<2%) | 2 | 1 | 2 | carbemazepine, valproic acid | 0 | 0 | 1 | 1 |
22 | R294X | Random | 48.5 (<2%) | 0 | 0 | 0 | levetiracetam, valproic acid | 0 | 2 | 1 | 3 |
31 | R270X | Random | 53.3 (10%) | 1 | 1 | 1 | fluoxetine | 1 | 1 | 0 | 1 |
HCc = head circumference in centimeters with percentiles in parentheses; H = hyperventilation; R = rigidity; S = seizures; Sc = scoliosis;
0 = cannot walk; 1 = walks with assistance; 2 = walks without assistance
0 = cannot feed self; 1 = can feed self
Scores on Activities of Daily Living Scale (ADLS)
0 = neither walks nor feeds self
1 = walks with assistance and feeds self
2 = walks without assistance and feeds self
Scores for H, S, Sc, and R: 0 = none. 1 = mild. 2 = moderate, 3 = severe.