Angelman

Key Facts about Angelman

Angelman syndrome is caused by missing or changed genetic information on the mother’s copy of chromosome 15.
People with Angelman syndrome have different levels of physical coordination and movement skills. This is probably linked to different underlying genetic causes (subtypes) seen in AS.
People with Angelman syndrome are often described as very happy and excitable. Parents often say their child forms a strong bond with them.
Most people with Angelman syndrome will have a severe to profound intellectual disability.
Many people with AS use non-verbal ways to communicate, like touching or pulling someone’s hand. Speaking and using words is usually limited in Angelman syndrome.
About 8 out of 10 people with Angelman syndrome show repetitive behaviours, like hand-flapping.
About 7 out of 10 people with Angelman syndrome show aggression, like hair pulling, but this doesn’t mean they intend to harm anyone. These behaviours are linked to over-activity, impulsivity, and repetitive actions.
A person’s level of activity and concentration skills often improve with age.
Some studies suggest that autism characteristics might be more common in people with Angelman syndrome than in those with other intellectual disabilities.
Certain health issues are more common in Angelman syndrome, like curvature of the spine (scoliosis), reduced mobility due to muscle tension as the person ages, and gastroesophageal reflux (similar to heartburn).

Rob and Jane describe their experiences as parents of Daniel, a child with Angelman syndrome.

Every person with a genetic syndrome is an individual.