Chromosome-5p minus syndrome (5p-Sd, OMIM #123450) formerly known as Cri du Chat 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 and female individuals.

(2009). Diseño y propiedades psicométricas del AVACO-EVADIE. Cuestionario para la evaluación de la atención a la diversidad como dimensión educativa en las instituciones escolares. RELIEVE, v. 15, n. 1,. http://www.uv.es/RELIEVE/v15n1/RELIEVEv15n1_4.htm. Revista ELectrónica de AbstractThis article shows the process taken to design and identify the psychometric properties of the evaluation instrument construct Diversity Attention as a context variable. For that, the starting point is a brief revision of different instruments used to collect information on diversity, not only cultural but also social, linguistic or on capacities.After that, and assuming a classification of the different theoretical approaches, a first instrument is made, committing ourselves to an inclusive approach. After that, its validation is made by experts and its pilot study is carried on. Reliability analysis of the instrument helps us to conclude that the questionnaire is reliable on collecting information regarding how schools face diversity attention.

(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.

El proceso de acogida hace referencia a diferentes actuaciones y procedimientos que tienen por objeto proporcionar a la persona que comienza la información y apoyos necesarios para facilitar el acceso a una institución. En el ámbito de la educación superior, y concretamente en la docencia universitaria, la acogida no ha sido un tema de interés y las experiencias en este sentido son escasas. El documento describe el proceso de análisis de necesidades del profesorado novel en una institución universitaria a partir de un grupo de discusión y la recogida de información posterior mediante cuestionario. Los datos ponen de manifiesto la importancia de una buena acogida, acompañada de la entrega de información imprescindible, así como la implementación de programas de mentoría para el bienestar personal del docente universitario.

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