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

  1. María Cristina Bel Fenellos
Supervised by:
  1. Julián Nevado Blanco Director
  2. Belén Sáenz Rico de Santiago Director

Defence university: Universidad Complutense de Madrid

Year of defence: 2021

  1. Luis Miguel García Moreno Chair
  2. Chantal Biencinto López Secretary
  3. Cecilia Ruiz Esteban Committee member
  4. Javier Cabanyes Truffino Committee member
  5. Juan Antonio García Madruga Committee member
  1. Estudios Educativos

Type: Thesis


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...