Cognitive-Behavioral Profile in Pediatric Patients with Syndrome 5p-; Genotype-Phenotype Correlationships.

(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.

Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome.

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.

De la exclusión a la inclusión: de entender y atender la diversidad cultural en las instituciones escolares / From exclusion to inclusion: a way to understand and deal with cultural diversity in school institutions

A atenção à diversidade é um princípio básico dos sistemas educacacionais atuais. A literatura sobre diversidade aborda diferentes campos (socioeducativo, educação especial e psicopedagógico), todos eles trabalhando em paralelo. Como conseqüência, diferentes abordagens têm sido desenvolvidas compartilhando bases similares, mas usando terminologias distintas. O objetivo deste artigo é elaborar uma estrutura comum que, derivada da teoria e da prática educativa, nos ajude a compreender os diferentes caminhos de enfrentar e lidar com a diversidade em todas as instituições de escola. Nós defendemos que a teoria de todos os elementos (cultural, específico e individual) estão unidas em uma única dimensão que possa ser útil aos administradores, aos investigatores e aos educadores como objetivo de elaborar propostas educacacionais coerentes e para interpretar a realidade sob a mesma referência.

Attention to student diversity is a basic principle of present educational systems. Literature about diversity can be found on many different fields(social-educative, special education and psycho-pedagogical) all of them working parallel. As a consequence, different approaches have been developed sharing similar bases but using different terminology. The aim of this article is to elaborate, from both the theoretical and the applied education, a common frame of reference which helps us to understand the different ways of facing and dealing with attention to diversity in all school institutions. We support the theory that all elements (cultural, specific and individual) come together in a single dimension that could be useful to all managers, researchers and educational practitioners in order to elaborate coherent educational proposals and to interpret reality from the same frame of reference.