Skip to main content

Table 1 The clinical features of the patient, in order of frequency, compared to the 13 AS patients with UPD/imprinting defects reported by Tan[4]

From: Early detection of Angelman syndrome resulting from de novo paternal isodisomic 15q UPD and review of comparable cases

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%)