Table 2.
Grouped outcome parameters according to presentation type
| Early onset (n = 29) | Late onset (n = 34) | P value | Bonferroni correction | |
|---|---|---|---|---|
| Adverse outcome of first symptomatic phase | ||||
| No adverse outcome | n = 11; 38% | n = 23; 64% | .024 | NS |
| Mild adverse outcome | n = 17; 59% | n = 6; 21% | .001 | .006 |
| Severe adverse outcome | n = 0; 0% | n = 4; 12% | .118 | NS |
| Death due to first presentation | n = 1; 3% | n = 1; 3% | 1.000 | NS |
| AMD frequency | ||||
| None: no AMD in first 4 years | n = 3; 10% | n = 13; 38% | .019 | NS |
| Mild: >0.0 ≤ 0.5 AMD/PY | n = 1; 3% | n = 3; 9% | .618 | NS |
| Moderate: >0.5 ≤ 1.0 AMD/PY | n = 2; 7% | n = 2; 6% | 1.000 | NS |
| Severe: >1.0 ≤ 2.0 AMD/PY | n = 6; 21% | n = 3; 9% | .280 | NS |
| Very severe: >2.0 AMD/PY | n = 11; 38% | n = 5; 15% | .045 | NS |
| Death: during or due to AMD | n = 3; 10% | n = 1; 3% | .326 | NS |
| NA | n = 3; 10% | n = 7; 21% | .319 | NS |
| Cognitive function | ||||
| Group 1: IQ >90 or regular education | n = 4; 14% | n = 15; 44% | .013 | NS |
| Group 2: IQ 60‐90 or special education | n = 10; 34% | n = 8; 24% | .407 | NS |
| Group 3: IQ <60 or no education | n = 10; 34% | n = 5; 15% | .081 | NS |
| NA | n = 5; 17% | n = 6; 18% | 1.000 | NS |
| Mitochondrial complications | ||||
| None | n = 1; 3% | n = 5; 15% | .205 | NS |
| Mild | n = 6; 21% | n = 19; 56% | .005 | .034 |
| Moderate | n = 5; 17% | n = 5; 15% | 1.000 | NS |
| Severe | n = 9; 31% | n = 2; 6% | .017 | NS |
| Very severe | n = 8; 28% | n = 3; 9% | .093 | NS |
| Death | n = 0; 0% | n = 0; 0% | 1.000 | NS |
| NA | n = 0; 0% | n = 0; 0% | 1.000 | NS |
| Treatment‐related complications | ||||
| None | n = 9; 31% | n = 17; 50% | .199 | NS |
| Mild | n = 10; 34% | n = 13; 38% | .798 | NS |
| Severe | n = 6; 21% | n = 3; 9% | .280 | NS |
| Very severe | n = 4; 14% | n = 1; 3% | .171 | NS |
| NA | n = 0; 0% | n = 0; 0% | 1.000 | NS |
Notes: Adverse outcome of first symptomatic phase: Adverse outcome of the first symptomatic phase. Early onset: presentation ≤28 days of life; Late onset: presentation >28 days of life. Statistical significance was determined by Fisher's exact tests. All P‐values were adjusted according to the Bonferroni method. Adjusted P‐values <.05 were considered statistically significant and are depicted in bold.
Abbreviations: AMD, acute metabolic decompensation; NA, not assessed; NS, not significant; PY, patient year.