Variables asociadas a las características de comunicación y lenguaje de las personas con síndrome de Angelman en una muestra de la península Ibérica

Abstract

Introduction

Angelman syndrome (AS) is a rare condition with low prevalence associated with severe global developmental delay, behavioral phenotype of happy appearance and social interaction, moderate to severe intellectual disability with minimal or absent oral language associated with molecular etiology and featuring clinical variables.

Objectives

To describe communication and language abilities in a sample of individuals with AS from Spain and Portugal, explore the influence of molecular etiology, age and use of Augmentative and Alternative Communication (AAC).

Materials and methods

The sample comprised 40 individuals diagnosed with AS, from the Iberian Peninsula, assessed using the MacArthur Communicative Development Inventories.

Results

A characteristic profile is shown with a predominance of gestures and receptive language over expressive. Differences are noted by molecular subtype, age, use of AAC and the origin in the Iberian Peninsula.

Conclusions

The linguistic phenotype for Angelman Syndrome is consistent with findings from other studies, however associated variables such as molecular etiology and use of AAC should be considered.