RT Journal Article
T1 Cognitive–behavioral profile in pediatric patients with syndrome 5p-; genotype–phenotype correlationships
A1 Bel Fenellos, María Cristina
A1 Biencinto López, Chantal-María
A1 Sáenz-Rico De Santiago, María Belén
A1 Hernández Estrada, Adolfo
A1 Sandoval-Talamantes, Ana Karen
A1 Tenorio-Castaño, Jair
A1 Lapunzina, Pablo
A1 Nevado, Julian
A2 Philibert, Robert
A2 MDPI, 
AB (1) Background: 5p minus Syndrome (S5p-) is a neurodevelopmental disorder caused by a deletion in the short arm of chromosome 5. Among the phenotypic characteristics of S5p-, the most characteristic and representative element is a monochromatic cry with a high-pitched tone reminiscent of a cat’s meow. Individuals may also show great phenotypic heterogeneity and great genetic variability. Regarding cognitive–behavioral aspects of the syndrome, the studies are scarce and do not establish a general profile of the main cognitive–behavioral particularities that this syndrome presents. The main objective of this work was to describe the development profile of a cohort of 45 children with 5p minus Syndrome, concerning the biomedical, genetic, cognitive, and behavioral aspects. Establishing putative genotype–phenotype (cognitive–behavioral profiles) relationships in our cohort, from an interdisciplinary approach. (2) Methods: A selection of instruments of measures was selected for neuropsychological assessment (3) Results: In general, children with S5p- have a higher cognitive level than a communicative and motor level. Language difficulties, especially expressive ones, influence the frequency and severity of the most frequent behavioral problems in S5p. The most significant problem behavior of children with S5p-, especially girls, is self-harm. Compulsive behavior, limited preferences, and interest in monotony are significantly more frequent in subjects with better cognitive levels. We also find a significant correlation between the size of the loss of genetic material on 5p and the cognitive level of the subjects. (4) Conclusions: We described for the first time, the cognitive–behavioral profile of a cohort of minors with S5p-. Remarkably, it was found that language, especially of an expressive nature, modulates the most frequent behavioral aspects in subjects with lower cognitive levels, so it is essential to develop verbal or alternative communication strategies adjusted to these individuals.
PB MDPI
YR 2023
FD 2023
LK https://hdl.handle.net/20.500.14352/91418
UL https://hdl.handle.net/20.500.14352/91418
LA eng
NO Bel-Fenellós, C.; Biencinto-López, C.; Sáenz-Rico, B.; Hernández, A.; Sandoval-Talamantes, A.K.; Tenorio-Castaño, J.; Lapunzina, P.; Nevado, J. Cognitive–Behavioral Profile in Pediatric Patients with Syndrome 5p-; Genotype–Phenotype Correlationships. Genes 2023, 14, 1628. https://doi.org/10.3390/ genes14081628
NO Publicación derivada de un trabajo de investigación desde un equipo interdisciplinar entre áreas ciencias médicas, ciencias sociales y ciencias del comportamiento al tratarse de una población objeto de estudio considerada enfermedad rara, que requiere de un abordaje interdisciplinar de cara a ir avanzando en la identificación características de la misma desde distintas dimensiones que influyan en su desarrollo.
DS Docta Complutense
RD 21 ago 2024