Factores predictivos de las alteraciones del desarrollo y las dificultades de aprendizaje en menores con síndrome 5paspectos biomédicos, genéticos, cognitivos y conductuales

Abstract

The Syndrome 5p minus (S5p-), or “Cri du chat syndrome” was described in 1963 by Dr. Lejeune et al. It consists of a chromosomal disorder resulting from the loss of genetic material from the short arm of chromosome 5. S5p- is a well-defined clinical entity, although individuals show significant genotypic and phenotypic variability.Different studies suggest a triad of nuclear characteristics in the syndrome, including: intellectual disability, minimal verbal skills, and severe psychomotor retardation. However recent works suggest a broader skill profile (Carlin, 1990; Cerruti Mainardi et al. 2001; Cerruti Mainardi, 2006; Cornish, 1996; Cornish et al., 1999). In fact, altogether joined to genetic studies (Gersh et al., 1995; Marinescu et al., 1999) have shown significant clinical and cytogenetic variability among patients. Among all these studies, a few of them were focused on Intellectual Disabilities (ID) and no one analyzes in-depth, the cognitive aspects of the syndrome under a multidisciplinary point of view...