What does someone with Angelman syndrome look like?

These cases of laughter may be due to increased anxiety such as, for example, during blood draws. Other studies have shown that children do not appear to laugh indiscriminately but actually laugh more during social interactions compared to non-social circumstances.

Adults with Angelman syndrome have distinctive facial features that may be described as “coarse .” Other common features include unusually fair skin with light-colored hair and an abnormal side-to-side curvature of the spine (scoliosis ). The life expectancy of people with this condition appears to be nearly normal.8 Eyl 2020

Angelman syndrome is a genetic condition that affects the nervous system and causes severe physical and learning disabilities. A person with Angelman syndrome will have a near-normal life expectancy , but they will need support throughout their life.

Relevance to autism: Angelman syndrome has a high comorbidity with autism and shares a common genetic basis with some forms of autism. The current view states that Angelman syndrome is considered a ‘syndromic’ form of autism spectrum disorder 19.