Person: Bel Fenellos, María Cristina
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First Name
María Cristina
Last Name
Bel Fenellos
Affiliation
Universidad Complutense de Madrid
Faculty / Institute
Educación-Centro Formación Profesor
Department
Investigación y Psicología en Educación
Area
Psicología Evolutiva y de la Educación
Identifiers
4 results
Search Results
Now showing 1 - 4 of 4
Item Variability in Phelan-McDermid syndrome in a cohort of 210 Individuals(Frontiers in Genetics, 2022) Nevado Blanco, Julián; García Miñaúr, Sixto; Palomares Bralo, María; Vallespín, Elena; Guillén Navarro, Encarna; Rosell, Jordi; Bel Fenellos, María Cristina; Mori, María Ángeles; Milá, Montserrat; del Campo, Miguel; Barrúz, Pilar; Santos Simarro, Fernando; Obregón, Gabriela; Orellana, Carmen; Pachajoa, Harry; Tenorio, Jair Antonio; Galán, Enrique; Cigudosa, Juan C.; Moresco, Angélica; Saleme, César; Castillo, Silvia; Gabau, Elisabeth; Pérez Jurado, Luis; Barcia, Ana; Martín, María Soledad; Mansilla, Elena; Vallcorba, Isabel; García Murillo, Pedro; Cammarata Scalisi, Franco; Gonçalves Pereira, Natálya; Blanco Lago, Raquel; Serrano, Mercedes; Ortigoza Escobar, Juan Dario; Gener, Blanca; Seidel, Verónica Adriana; Tirado, Pilar; Lapuniza, PabloPhelan-McDermid syndrome (PMS, OMIM# 606232) results from either different rearrangements at the distal region of the long arm of chromosome 22 (22q13.3) or pathogenic sequence variants in the SHANK3 gene. SHANK3 codes for a structural protein that plays a central role in the formation of the postsynaptic terminals and the maintenance of synaptic structures. Clinically, patients with PMS often present with global developmental delay, absent or severely delayed speech, neonatal hypotonia, minor dysmorphic features, and autism spectrum disorders (ASD), among other findings. Here, we describe a cohort of 210 patients with genetically confirmed PMS. We observed multiple variant types, including a significant number of small deletions (<0.5 Mb, 64/189) and SHANK3 sequence variants (21 cases). We also detected multiple types of rearrangements among microdeletion cases, including a significant number with post-zygotic mosaicism (9.0%, 17/189), ring chromosome 22 (10.6%, 20/189), unbalanced translocations (de novo or inherited, 6.4%), and additional rearrangements at 22q13 (6.3%, 12/189) as well as other copy number variations in other chromosomes, unrelated to 22q deletions (14.8%, 28/189). We compared the clinical and genetic characteristics among patients with different sizes of deletions and with SHANK3 variants. Our findings suggest that SHANK3 plays an important role in this syndrome but is probably not uniquely responsible for all the spectrum features in PMS. We emphasize that only an adequate combination of different molecular and cytogenetic approaches allows an accurate genetic diagnosis in PMS patients. Thus, a diagnostic algorithm is proposed.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.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, GermanyChromosome-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 individualsItem Stereotypes of people with intellectual disabilities held by university education students(Research and Practice in Intellectual and Developmental Disabilities, 2023) Beunza-García, Silvia; Biencinto López, Chantal-María; Molina Del Peral, José Antonio; Bel Fenellos, María Cristina; Carpintero Molina, María ElviraStereotypes result from interpersonal and intergroup relations and have specific repercussions on behaviour. This study investigated the stereotypes held by university students in the Faculty of Education, Complutense University of Madrid, Spain, towards people with intellectual disabilities and analysed possible attitudinal differences based on previous contact with people with intellectual disabilities or who had family members with intellectual disabilities. Results obtained through participants’ responses to a list of adjectives showed a clear positive stereotype formed by adjectives such as determined, sincere, affectionate, and capable but no significant differences were found between the groups. The study results were analysed in detail and compared with previous studies, from which future lines of research have been suggested, including longitudinal research, larger samples, and addressing additional variables. Examining the attitudes of people with intellectual disabilities towards others with intellectual disabilities is also important.