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 |