Compensación educativa I

No publicadoLos profesores integrantes de este grupo de trabajo se propusieron estudiar las necesidades del alumnado que por su procedencia, cultura o situación social se encuentra en desventaja respecto a los demás; analizar los materiales de matemáticas existentes en los Centros de Trabajo y los CPR y seleccionar aquellos que sirvan para subsanar las dificultades detectadas en los alumnos; elaborar nuevo material adaptado a los alumnos que presentan un desfase escolar importante debido a la escolarización tardía y absentismo escolar, problemática familiar y problemas de aprendizaje. Teniendo en cuenta todo ello, se han realizado una serie de fichas de matemáticas como juego, algo que se acerca más a la realidad de su vida cotidiana. Estos juegos-fichas se dirigen a alumnos de Educación Primaria (segundo y tercer ciclo), y Primer Ciclo de Secundaria han clasificado en tres grupos: reglados, de observación y respuesta y pasatiempos y rompecabezas.Castilla y LeónES

Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients

Tatton-Brown-Rahman (TBRS) syndrome is a recently described overgrowth syndrome caused by loss of function variants in the DNMT3A gene. This gene encodes for a DNA methyltransferase 3 alpha, which is involved in epigenetic regulation, especially during embryonic development. Somatic variants in DNMT3A have been widely studied in different types of tumors, including acute myeloid leukemia, hematopoietic, and lymphoid cancers. Germline gain-of-function variants in this gene have been recently implicated in microcephalic dwarfism. Common clinical features of patients with TBRS include tall stature, macrocephaly, intellectual disability (ID), and a distinctive facial appearance. Differential diagnosis of TBRS comprises Sotos, Weaver, and Malan Syndromes. The majority of these disorders present other clinical features with a high clinical overlap, making necessary a molecular confirmation of the clinical diagnosis. We here describe seven new patients with variants in DNMT3A, four of them with neuropsychiatric disorders, including schizophrenia and psychotic behavior. In addition, one of the patients has developed a brain tumor in adulthood. This patient has also cerebral atrophy, aggressive behavior, ID, and abnormal facial features. Clinical evaluation of this group of patients should include a complete neuropsychiatric assessment together with psychological support in order to detect and manage abnormal behaviors such as aggressiveness, impulsivity, and attention deficit-hyperactivity disorder. TBRS should be suspected in patients with overgrowth, ID, tall stature, and macrocephaly, who also have some neuropsychiatric disorders without any genetic defects in the commonest overgrowth disorders. Molecular confirmation in these patients is mandatory.This project was supported by ISCII, FEDER funds grant: FIS-PI15/01481