Predictors of communication ability in Angelman syndrome: evidence from Polish individuals

Angelman syndrome (AS) is a neurodevelopmental disorder that affects cognitive and executive functioning, as well as emotional, expressive, sensory, and physical behavior. Children with AS demonstrate a distinct lack of expressive speech, with recognizable words appearing only seldom. No data regarding the prevalence of AS in the Polish population is available to date, resulting in a diagnostic gap.

The current work reports on the results of applying the Observer Reported Communication Ability (ORCA) questionnaire to provide new data on the linguistic abilities of Polish individuals affected by AS. 73 individuals were included in the analysis with a median age of 111.02 months, 39 of them female.

Based on our analyses, we conclude that individuals without deletions have a greater communication ability relative to individuals with deletions. We found no correlation between age and language ability in AS, which corroborates previous claims that language skills in AS become stunted at some point. We did not find any significant predictors of communication ability tied to socio-economic status or gender.

Our results suggest that - as far as communication abilities are concerned - an awareness of an individual's genetic diagnosis when choosing therapy can increase the likelihood of optimized care being given.