Sleep disturbance in adults with Angelman syndrome
β Scribed by Kirstie N ANDERSON; Samantha PILSWORTH; Sarah JAMIESON; Julian RAY; John M SHNEERSON; Graeme G LENNOX
- Book ID
- 109059417
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 394 KB
- Volume
- 6
- Category
- Article
- ISSN
- 1446-9235
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## Abstract We describe a new ocular finding, retinochoroidal atrophy (RCA), associated with optic disk paleness in two adult patients with Angelman syndrome (AS) due to maternal 15q11β13 deletion. The ocular involvement described in children with AS consists iris and choroids hypopigmentation due
Undiagnosed institutionalised patients were reviewed in an attempt to identify those with Angelman syndrome (AS). The aim was to test these patients for deletion of chromosome 15(q11-13) and to describe the adult phenotype. The selection criteria included severe intellectual disability, ataxic or hy