The analyzed parameters at diagnosis | Values for the patient described in this report | Values for the 13 AS patients with UPD/imprinting defects reported by Tan[4] |
---|---|---|
Age (months) at diagnosis | ||
0–24 | 1 | 0 |
25–36 | - | 5 |
37–60 | - | 8 |
Gender | M | 8M/5F |
Short attention span | + | 12/13 (92%) |
History of sleep difficulties | + | 12/13 (92%) |
Normal tone at evaluation | + | 12/13 (92%) |
Mouthing behavior | + | 11/13 (85%) |
Hand flapping | + | 11/13 (85%) |
Drooling | + | 10/13 (77%) |
Feeding difficulties in infancy | - | 10/13 (77%) |
Ataxic or broad based gait | - | 8/11 (73%) |
Gastro-esophageal reflux | - | 9/13 (69%) |
Widely spaced teeth | + | 9/13 (69%) |
Fascination with water | + | 8/13 (62%) |
Easily provoked laughter | + | 8/13 (62%) |
Clinical seizures | - | 6/13 (46%) |
BMI>85% | + | 6/13 (46%) |
Unusually light hair or skin color | - | 3/13 (23%) |
Prognathism | - | 3/13 (23%) |
Mid-face hypoplasia | - | 2/13 (15%) |