Communication profile in persons with Angelman Syndrome

Communication profile in persons with Angelman Syndrome

Karla Guerrero Leiva and Carme Brun i Gasca

Universitat Autònoma de Barcelona, Spain

Angelman syndrome (AS) is a severe neurodevelopmental disorder, the estimated prevalence its 1 in 20.000 – 30.000 newborns.  It is caused by the lack of expression of maternally inherited imprinted genes of chromosome 15q11-q13.  This syndrome has a characteristic phenotype including severe intellectual disability, severe speech impairment, epilepsy, happy appearance, excessive laughter, easily excitable personality, hyperactivity and fascination with water.

The aim of this study is to explore the levels of language and communication in 60 individuals with AS, aged between 3-56 years of different countries, using the MacArthur –Communicative Developmental Inventory in collaboration with the associations of persons with Angelman Syndrome from Spain, Argentina and Portugal.

The results show specific communication and language characteristics in persons with AS in different areas. The differences by the genetic cause are: persons with AS deletion perform worse than the other groups. Significant differences between countries but not by the education level of the caregiver are found. This study provides more knowledge about communication in person with AS that could lead to an improvement in speech therapy intervention.