Table 2
Clinical characteristics of AS patients with UPD
| UPD | ||||||
|---|---|---|---|---|---|---|
| Isochromosome (n=6) | Isodisomy (n=10) | Total (n=16) | ||||
| Clinical characteristics | No | % | No | % | No | % |
| Consistent and frequent (more than 80%) | ||||||
| Developmental delay | 6/6 | 100 | 9/9 | 100 | 15/15 | 100 |
| Speech <3 words | 1/4 | 25 | 2/9 | 22.2 | 3/13 | 23 |
| Gestures/commun | 4/5 | 80 | 7/8 | 87.5 | 11/13 | 84 |
| Ataxia | 3/4 | 75 | 4/10 | 40 | 7/14 | 50 |
| Frequent laughter | 5/5 | 100 | 8/9 | 88.89 | 13/14 | 92 |
| Hand flapping | 4/4 | 100 | 1/2 | 50 | 5/6 | 83.3 |
| Hyperactivity | 5/5 | 100 | 7/7 | 100 | 12/12 | 100 |
| Microcephaly | 4/6 | 66.6 | 3/8 | 37.5 | 7/14 | 57.1 |
| Abnormal EEG | 4/4 | 100 | 7/7 | 100 | 11/11 | 100 |
| Seizures | 4/6 | 66.67 | 7/10 | 70 | 11/16 | 68 |
| Age of seizure onset (y) | Mean=3.76 | Mean=3.8 | Mean=3.78 | |||
| Range | 0.58–7 | 1.5–4.5 | 0.58–7 | |||
| Age of walking onset (y) | Mean=3.78 | Mean=2.75 | Mean=3.2 | |||
| Range | 2–7 | 2–6 | 2–7 | |||
| Associated (20–80%) | ||||||
| Flat occiput | 1/3 | 33.33 | 1/4 | 25 | 2/7 | 28 |
| Protruding tongue | 1/4 | 25 | 1/3 | 33.33 | 2/7 | 28 |
| Feeding problems | 0/4 | 0 | 1/2 | 50 | 1/6 | 16 |
| Prognathism | 2/4 | 50 | 4/6 | 66.6 | 6/10 | 60 |
| Wide mouth | 3/5 | 60 | 8/9 | 88.89 | 11/14 | 78 |
| Frequent drooling | 4/4 | 100 | 2/2 | 100 | 6/6 | 100 |
| Hypopigmented | 2/4 | 50 | 0/3 | 0 | 2/7 | 28 |
| Hyperphagia | 2/3 | 66.67 | 3/3 | 100 | 5/6 | 83 |
| Weight (>50th centile) | 3/5 | 60 | 6/8 | 75 | 9/13 | 69.2 |
| Height (>50th centile) | 2/5 | 40 | 5/9 | 55.5 | 7/14 | 50 |
