Angelman Syndrome
Dr. Angelman used the term "Happy Puppet Children"; he reportedly conjured this term after seeing the painting "Young Man with a Drawing of a Puppet" at the Castelvecchio Museum in Verona
- Maternal deletion, paternal imprinting in 15q11-13
- MCC UBE3A deletion
*minority from paternal uniparental disomy
*Prader-Willi Syndrome is the opposite
Clinical manifestations
- happy demeanor: inappropriate laugh
- stiff/ataxic, tremulous limbs, flap hands when walking
- lack of speech, gesturing for communication
- happy demeanor: inappropriate laugh
- stiff/ataxic, tremulous limbs, flap hands when walking
- lack of speech, gesturing for communication
- stereotypies, fascination w/ water-related items & crinkly items
- hypopigmentaion of hair, skin, eyes
- microcephaly, severe ID
- microcephaly, severe ID
Epilepsy
- > 80% of patients
- EEG: high amplitude, rhythmic 2-3 Hz frontally-based activity with intermittent epileptiform discharges
- > 80% of patients
- EEG: high amplitude, rhythmic 2-3 Hz frontally-based activity with intermittent epileptiform discharges
- delta notch
Diagnosis
Methylation analysis with FISH or microarray
Methylation analysis with FISH or microarray