Diagnosis
The diagnosis of Angelman syndrome is based on:
- A history of delayed motor milestones and then later a delay in general development, especially of speech
- Unusual movements including fine tremors, jerky limb movements, hand flapping and a wide-based, stiff-legged gait.
- Characteristic facial appearance (but not in all cases).
- A history of epilepsy and an abnormal EEG tracing.
- A happy disposition with frequent laughter
- A deletion or inactivity on chromosome 15 by array comparative genomic hybridization (aCGH) or by BACs-on-Beads technology.
Diagnostic criteria for the disorder were initially established in 1995 in collaboration with the Angelman syndrome Foundation (USA); these criteria have undergone revision in 2005.
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