Person:
Hernández Estrada, Adolfo

Profile Picture
First Name
Adolfo
Last Name
Hernández Estrada
URI
https://hdl.handle.net/20.500.14352/76380
Affiliation
Universidad Complutense de Madrid
Faculty / Institute
Comercio y Turismo
Department
Economía Financiera, Actuarial y Estadística
Area
Estadística e Investigación Operativa
Identifiers
UCM identifierORCIDScopus Author IDWeb of Science ResearcherIDDialnet IDGoogle Scholar ID

Filters

2021 - 20232
Reset filters

Settings

Start date: 2020 × Subject: 37.012 ×

Search Results

Now showing 1 - 2 of 2
  • Thumbnail Image
    Item
    Cognitive–behavioral profile in pediatric patients with syndrome 5p-; genotype–phenotype correlationships
    (Genes, 2023) Bel Fenellos, María Cristina; Biencinto López, Chantal-María; Sáenz-Rico De Santiago, María Belén; Hernández Estrada, Adolfo; Sandoval-Talamantes, Ana Karen; Tenorio-Castaño, Jair; Lapunzina, Pablo; Nevado, Julian; Philibert, Robert; MDPI
    (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.
  • Thumbnail Image
    Item
    Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome
    (Frontiers in Genetics, 2021) Nevado, Julian; Bel Fenellos, María Cristina; Sandoval-Talamantes, Ana Karen; Hernández Estrada, Adolfo; Biencinto López, Chantal-María; Martínez-Fernández, María Luisa; Barrúz, Pilar; Santos-Simarro, Fernando; Mori-Álvarez, María Ángeles; Mansilla, Elena; García-Santiago, Fé Amalia; Valcorba, Isabel; Sáenz-Rico De Santiago, María Belén; Martínez-Frías, María Luisa; Lapunzina, Pablo; Sáenz-Rico De Santiago, María Belén; Julian Nevado Blanco; Katalin Komlosi, Medical Center – University of Freiburg, Germany
    Chromosome-5p minus syndrome (5p-Sd, OMIM #123450) formerly known as Cri duChat syndrome results from the loss of genetic material at the distal region of the short arm of chromosome 5. It is a neurodevelopmental disorder of genetic cause. So far, about 400 patients have been reported worldwide. Individuals affected by this syndrome have large phenotypic heterogeneity. However, a specific phenotype has emerged including global developmental delay, microcephaly, delayed speech, some dysmorphic features, and a characteristic and monochromatic high-pitch voice, resembling a cat’s cry. We here describe a cohort of 70 patients with clinical features of 5p- Sd characterized by means of deep phenotyping, SNP arrays, and other genetic approaches. Individuals have a great clinical and molecular heterogeneity, which can be partially explained by the existence of additional significant genomic rearrangements in around 39% of cases. Thus, our data showed significant statistical differences between subpopulations (simple 5p deletions versus 5p deletions plus additional rearrangements) of the cohort. We also determined significant “functional” differences between male andfemale individuals