出版社：Asociación Nacional de Psicología Evolutiva y Educativa de la Infancia Adolescencia Mayores y Discapacidad
摘要：FRAGILE X SYNDROME: DETECTION AND INTERVENTION IN THE BEHAVIOURAL PHENOTYPEFragile X syndrome (SXF) constitutes the first cause of hereditary intellectual disability. It is one alteration of the neurodevelopmental produced by a mutation in the FMR1 gene causing inadequate synthesis of the protein FMRP1. The absence of this protein would be responsible for the physical phenotype and behavioral that characterizes these people. This work intends to present the most relevant and significant characteristics that define the behavioral phenotype: hyperactivity and attention deficit, social anxiety, intellectual disabilities and learning problems, linguistic alterations and difficulties of social communication and sensory integration difficulties. The study was conducted on a sample of 26 adults with SXF who attend centers for people with intellectual disabilities. The same socio-educational guidance is provided to respond to the needs and proposed recommendations for the handling of misconduct that people with SXF can present.
关键词：Proteína FMRP1; Gen FMR1; Discapacidad Intelectual; Alteraciones del Neurodesarrollo; Checklist de Hagerman.
