How is Angelman syndrome diagnosed?

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How is Angelman syndrome diagnosed?

The characteristic symptoms of Angelman syndrome aren't usually apparent at birth. Healthcare providers typically diagnose the condition in children between one and four years of age. But this can vary because Angelman syndrome has such a wide range of symptoms and severity.

Angelman syndrome is also easily misdiagnosed as other conditions that closely resemble it, including:

  • Autism spectrum disorder.
  • Cerebral palsy.
  • Mowat-Wilson syndrome.
  • Christianson syndrome.
  • Pitt-Hopkins syndrome.
  • Prader-Willi syndrome.
  • Phelan-McDermid syndrome

The only certain way to diagnose Angelman syndrome is with genetic testing that identifies changes to the UBE3A gene.

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