Funcionamiento cognitivo general y habilidades psicolingüísticas en niños con síndrome de Smith-Magenis / General cognitive functioning and psycholinguistic abilities in children with Smith-Magenis Syndrome

Presentamos un estudio psicolingüístico de una afección genética rara por microdelección que cursa con discapacidad intelectual y una relativamente buena preservación de las habilidades lingüísticas, el síndrome de Smith-Magenis (SSM) del que no existe ninguna descripción del perfil cognitivo y psicolingüístico con población española. Se ha caracterizado el perfil cognitivo y psicolingüístico del SSM a partir de una muestra de 9 pacientes niños españoles con edades comprendidas entre 7 y 11 años. El perfil cognitivo y psicolingüístico se evaluó con las pruebas estandarizadas Escala de Inteligencia de Wechsler para niños-IV, Test Illinois de Aptitudes Psicolingüísticas y el Test de Vocabulario en Imágenes Peabody. Los resultados sugieren un perfil específi co caracterizado por un C.I. bajo y relativamente buenas habilidades para integrar información proveniente de diferentes canales; las difi cultades observadas se centran en problemas de atención y comportamiento hiperactivo que se han puesto de manifiesto en la interacción durante la evaluación. Este estudio es la primera evidencia existente acerca de la descripción del perfil cognitivo y psicolingüístico en pacientes con SSM en España y ayudará a establecer pautas de intervención diferencial educativas y psicoterapéuticas respecto de otras enfermedades genéticas con baja incidencia con perfi les similares a los estudiados (AU)

This study is a neuropsycholinguistic research of a rare genetic syndrome with microdeletion that co-occurs with intellectual disabilities and relatively good language abilities, the Smith-Magenis Syndrome (SMS). Nevertheless, there are no cognitive and psycholinguistic profile analyses performed with Spanish population. In this sense, we characterized the cognitive and psycholinguistic profile of a sample with 9 participants with SMS (7 to 11 years of age). The cognitive and psychological profile was assessed with diverse standardized tests: Wechsler Intelligence Scale for Children - IV version, Illinois Test of Psycholinguistic Abilities and Peabody Picture Vocabulary Test. Results suggest a specific cognitive and psychological profile characterized by a low IQ and relative good abilities in integrating information, whereas attention problems and hyperactive behaviors were displayed when interacting with the child during the assessment. This work is the first evidence of the cognitive and psycholinguistic profile characterization in patients with SMS in Spain, and will help to guide a more accurate diagnosis and differential intervention in rare genetic diseases with similar cognitive and psycholinguistic profiles (AU)

[General cognitive functioning and psycholinguistic abilities in children with Smith-Magenis Syndrome]. / Funcionamiento cognitivo general y habilidades psicolingüísticas en niños con síndrome de Smith-Magenis.

This study is a neuropsycholinguistic research of a rare genetic syndrome with microdeletion that co-occurs with intellectual disabilities and relatively good language abilities, the Smith-Magenis Syndrome (SMS). Nevertheless, there are no cognitive and psycholinguistic profile analyses performed with Spanish population. In this sense, we characterized the cognitive and psycholinguistic profile of a sample with 9 participants with SMS (7 to 11 years of age). The cognitive and psychological profile was assessed with diverse standardized tests: Wechsler Intelligence Scale for Children - IV version, Illinois Test of Psycholinguistic Abilities and Peabody Picture Vocabulary Test. Results suggest a specific cognitive and psychological profile characterized by a low IQ and relative good abilities in integrating information, whereas attention problems and hyperactive behaviors were displayed when interacting with the child during the assessment. This work is the first evidence of the cognitive and psycholinguistic profile characterization in patients with SMS in Spain, and will help to guide a more accurate diagnosis and differential intervention in rare genetic diseases with similar cognitive and psycholinguistic profiles.