Table 3.
The size of the head—traditional classification (HC) and (A) units and syndromes associated with neurodysfunction, (B) classification with regard to the etiopathogenesis, presence and character of encephalopathy.
| (A) The size of the head—traditional classification (HC) and entities and syndromes associated with neurodysfunction | |||||||
|---|---|---|---|---|---|---|---|
| Entities and syndromes associated with neurodysfunction | The size of the head—traditional classification (HC) by z-score HC (p < 0.001; Cp = 0.509) | ||||||
| Normal | Microcephaly | Macrocephaly | Total | ||||
| N (%) | ASR | N (%) | ASR | N (%) | ASR | N (%) | |
| NBIA-MPAN | 2 | 1.0 | 0 | − 0.8 | 0 | − 0.5 | 2 (100.0%) |
| GSD II | 1 | 0.7 | 0 | − 0.5 | 0 | − 0.3 | 1 |
| LCHAD | 1 | 0.7 | 0 | − 0.5 | 0 | − 0.3 | 1 |
| SLO | 0 | − 1.5 | 1 | 1.9 | 0 | − 0.3 | 1 |
| GLUT1d | 1 | 0.7 | 0 | − 0.5 | 0 | − 0.3 | 1 |
| NKH | 1 | 0.7 | 0 | − 0.5 | 0 | − 0.3 | 1 |
| SMEI | 1 | 0.7 | 0 | − 0.5 | 0 | − 0.3 | 1 |
| sasMMC&HCP | 14 (82%) | 1.3 | 0 | − 2.3 | 3 (18%) | 1.2 | 17 |
| sasMMC | 1 (33%) | − 1.3 | 0 | − 0.9 | 2 (67%) | 3.4 | 3 |
| sasMM | 0 | − 1.5 | 1 | 1.9 | 0 | − 0.3 | 1 |
| ACM | 0 | − 2.1 | 1 (50%) | 1.0 | 1 (50%) | 2.0 | 2 |
| HCP | 0 | − 1.5 | 0 | − 0.5 | 1 | 3.1 | 1 |
| DS | 5 (45.5%) | − 1.7 | 6 (54.5%) | 2.6 | 0 | − 1.1 | 11 |
| ES | 0 | − 1.5 | 1 | 1.9 | 0 | − 0.3 | 1 |
| PMS | 1 (50%) | − 0.6 | 0 | − 0.8 | 1 (50%) | 2.0 | 2 |
| MWS | 1 | 0.7 | 0 | − 0.5 | 0 | − 0.3 | 1 |
| AS | 0 | − 1.5 | 1 | 1.9 | 0 | − 0.3 | 1 |
| DGS | 0 | − 1.5 | 1 | 1.9 | 0 | − 0.3 | 1 |
| 46,XY,del(X)(q24) | 1 | 0.7 | 0 | − 0.5 | 0 | − 0.3 | 1 |
| CdLS | 1 | 0.7 | 0 | − 0.5 | 0 | − 0.3 | 1 |
| SDS | 1 | 0.7 | 0 | − 0.5 | 0 | − 0.3 | 1 |
| PWS | 1 | 0.7 | 0 | − 0.5 | 0 | − 0.3 | 1 |
| 46 XX, add(2)(q25) | 1 | 0.7 | 0 | − 0.5 | 0 | − 0.3 | 1 |
| 46XX, del (12) (q24.21q24.23) | 1 | 0.7 | 0 | − 0.5 | 0 | − 0.3 | 1 |
| FAS | 0 | − 1.5 | 1 | 1.9 | 0 | − 0.3 | 1 |
| CP | 167 (70%) | 0.9 | 57 (24%) | 1.3 | 15 (6%) | − 3.3 | 239 |
| HMSN | 7 (87.5%) | 1.2 | 0 | − 1.5 | 1 (12.5%) | 0.3 | 8 |
| LGMD | 2 (29%) | − 2.3 | 0 | − 1.4 | 5 (71%) | 5.7 | 7 |
| BMD | 2 (67%) | − 0.1 | 0 | − 0.9 | 1 (33%) | 1.4 | 3 |
| DMD | 6 (86%) | 1.0 | 0 | − 1.4 | 1 (14%) | 0.4 | 7 |
| TD | 1 | 0.7 | 0 | − 0.5 | 0 | − 0.3 | 1 |
| AMC&N | 2 (67%) | − 0.1 | 1 (33%) | 0.5 | 0 | − 0.6 | 3 |
| CM | 1 | 0.7 | 0 | − 0.5 | 0 | − 0.3 | 1 |
| SMA | 1 (50%) | − 0.6 | 1 (50%) | 1.0 | 0 | − 0.5 | 2 |
| Total | 224 (68.5%) | 72 (22.0%) | 31 (9.5%) | 327 | |||
| (B) The size of the head—traditional classification (HC) and classification with regard to the etiopathogenesis, presence and character of encephalopathy | |||||||
|---|---|---|---|---|---|---|---|
| Classification with regard to the etiopathogenesis, presence and character of encephalopathy | The size of the head—traditional classification (HC) by z-score HC (p < 0.001; Cp = 0.315) | ||||||
| Normal | Microcephaly | Macrocephaly | Total | ||||
| N (%) | ASR | N (%) | ASR | N (%) | ASR | N (%) | |
| E-MD | 6 (86%) | 1.0 | 1 (14%) | − 0.5 | 0 | − 0.9 | 7 |
| EE | 1 | 0.7 | 0 | − 0.5 | 0 | − 0.3 | 1 |
| NTDs | 15 (62.5%) | − 0.7 | 2 (8.5%) | − 1.7 | 7 (29%) | − 3.4 | 24 |
| GD | 13 (56.5%) | − 1.3 | 9 (39%) | 2.1 | 1 (4.5%) | − 0.9 | 23 |
| TE | 0 | − 1.5 | 1 | 1.9 | 0 | − 0.3 | 1 |
| CP | 167 (70%) | 0.9 | 57 (24%) | 1.3 | 15 (6%) | − 3.3 | 239 |
| NMD | 22 (69%) | 0.0 | 2 (6%) | − 2.3 | 8 (25%) | 3.2 | 32 |
| Total | 224 (68.5%) | 72 (22%) | 31 (9.5%) | 327 | |||
N numbers of patients; % percent; p probability value calculated by chi-square test of independence, Cp Pearson’s Contingency Coefficient C, Cp ≥ 0, values distant from 0 reflect some relationship, values approaching 1 correspond to a perfect association; ASR adjusted standardized residuals, values > 1.96 reflect a greater number, and those below < − 1.96 correspond to a smaller number than a random distribution.