Angelman Syndrome

Question 1

what is the prevalence?

Answer 1

1 in 12,000-20,000 people
have been diagnosed with Angelman Syndrome

Question 2

what is the etiology?

Answer 2

it is a genetic neurological disorder. The cause for this disorder is a mutation or deletion of the gene, located on chromosome 15, called the
ubiquitin protein ligase (E3A (UBE3A) gene. It’s a rare disorder that doesn’t really need a family
history of the syndrome.

Question 3

what are key characteristics?

Answer 3

• development delays like not babbling and not crawling
• Frequent laughter and a happy personality (although may not actually be happy)
• Problems suckling and feeding. Throughout lifespan, troubles with swallowing lead to choking episodes and higher risks of pneumonia from aspiration.
  -Wide mouth and widely spaced teeth
• Often fair with fair hair and skin