Executive Functions in Children and Adolescents with Autism Spectrum Disorder, Grade 1 and 2, vs. Neurotypical Development: A School View

Autism spectrum disorders are neurodevelopmental disorders characterized by deficits in social and communication functioning. Previous studies suggest that people with autism spectrum disorders have deficits in executive functions, having found a relationship with cognitive flexibility, planning, working memory, inhibition or self-control, but it is especially with respect to cognitive flexibility where the greatest dysfunctions have been found. The objective of this research was to compare the executive functioning of a group of children and adolescents diagnosed with autism spectrum disorders with another with neurotypical development in an educational context

Executive Functions in Children and Adolescents with Autism Spectrum Disorder in Family and School Environment

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by the presence of difficulties in communication and social interaction, often associated with deficits in executive functions (EF). The EF correct development is related to a more effective functioning in all its daily activities, while being associated with more efficient social relations. The objective of this research is to analyze the level of development of EF in children and adolescents with ASD in school and at home. This is a descriptive, cross-sectional, and multicenter study with 102 participants selected by non-probabilistic sampling, 32 parents of children with ASD, and 70 professionals in the field of education of students with ASD. The study confirms that although children and adolescents with ASD have problems in executive functioning, the perception of informants, parents, and education professionals is similar but not the same in the different contexts: school and home

RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia

The Rad50 interacting protein 1 (Rint1) is a key player in vesicular trafficking between the ER and Golgi apparatus. Biallelic variants in RINT1 cause infantile-onset episodic acute liver failure (ALF). Here, we describe 3 individuals from 2 unrelated families with novel biallelic RINT1loss-of-function variants who presented with early onset spastic paraplegia, ataxia, optic nerve hypoplasia, and dysmorphic features, broadening the previously described phenotype. Our functional and lipidomic analyses provided evidence that pathogenic RINT1 variants induce defective lipid-droplet biogenesis and profound lipid abnormalities in fibroblasts and plasma that impact both neutral lipid and phospholipid metabolism, including decreased triglycerides and diglycerides, phosphatidylcholine/phosphatidylserine ratios, and inhibited Lands cycle. Further, RINT1 mutations induced intracellular ROS production and reduced ATP synthesis, affecting mitochondria with membrane depolarization, aberrant cristae ultrastructure, and increased fission. Altogether, our results highlighted the pivotal role of RINT1 in lipid metabolism and mitochondria function, with a profound effect in central nervous system development

La metamormosis de la universidad, homenaje a Edgar Morin

El mundo vive un cambio de época caracterizado por una crisis civilizatoria que afecta a la mayoría de las instituciones. La universidad no es ajena a este fenómeno. Cada vez más voces coinciden en que la educación convencional ha perdido aliento y vivacidad, por lo que se vuelve obligatorio replantear el quehacer educativo y reconfigurar sus propósitos. Esta obra promueve e impulsa maneras distintas de entender e implementar la universidad del siglo XXI. Encabezados por el gran pensador Edgar Morin, sus autores trazan el reto de generar una metamorfosis de la educación superior desde esquemas de complejidad y, para ello, ofrecen un conjunto de propuestas y experiencias sobre los caminos posibles para transformar las tareas universitarias. Dirigidas a académicos, sociólogos y todo aquel que tenga la preocupación intelectual de regenerar la organización de la universidad e, incluso, de la sociedad, estas páginas recuperan varias de las conferencias y tesis presentadas en el Seminario Internacional Universidad, pensar y actuar para la humanidad, en que Edgar Morin convoca a “resucitar la esperanza” y construir, desde la educación, un futuro nuevo, convirtiendo a esta obra en una invitación a continuar ahondando en la reflexión sobre las respuestas para cimentar un planeta más humano, más sustentable y más justo en que predomine, como indica el autor francés, el Eros sobre el Thanatos.ITESO, A.C

Aging embrittelment of stainless castings

RESUMEN. En este artículo se presenta, por una parte, la exposición resumida de los modelos teóricos existentes sobre la fragilización de aceros inoxidables moldeados austenoferríticos causada por envejecimiento térmico a 280ºC y, por otra, el análisis-aplicación a un acero real fragilizado, procedente del circuito de recirculación de una central nuclear. Los resultados obtenidos advierten de una importante fragilización al prever una reducción del 50% de la tenacidad a temperatura ambiente en un periodo inferior a 30 años, siendo suficiente un periodo de unos 11 años para que aquélla se reduzca ya un 40%. La disminución de la tenacidad medida a 280ºC es asimismo preocupante, no solo por el nivel alcanzado sino, sobre todo, por corresponder a una situación permanente de trabajo del sistema. La presencia habitual de elementos de aquel material en sistemas de alta responsabilidad como centrales nucleares, por ejemplo, agrava la magnitud del fenómeno y aconseja un estudio global y más profundo que se desarrolla en otro artículo aplicado al caso de los aceros inoxidables moldeados de especificación CF8M

Analysis of low temperature aging embrittlement of CF8M stainless steels castings

RESUMEN. En el marco de una investigación de carácter más general, en la que se analiza la fragilización térmica a 280º de los aceros inoxidables austenoferríticos moldeados, en el presente trabajo se estudia el comportamiento de los aceros CF8M frente a este problema como continuación a los resultados expuestos en un artículo anterior. Los modelos de comportamiento a que se llega, se basan en los efectos que ejercen los diferentes elementos que entran en la composición del acero y en la cantidad de ferrita que éste contiene. La influencia de la composición química sobre el comportamiento dúctil del acero sugiere, para evaluar el estado de la fragilización, la conveniencia del empleo de la relación existente entre el trinomio Si+Cr+Mo y la tenacidad a temperatura ambiente. El contenido de ferrita presenta un nivel crítico asociado al umbral de continuidad geométrica del camino de fractura a lo largo de aquella

Diagnosis and follow-up of patients with Hunter syndrome in Spain

Hunter syndrome or mucopolysaccharidosis type II (MPSII) is a progressive multisystem X-linked lysosomal storage disease caused by mutations in the IDS gene that shows a wide spectrum of clinical symptoms and severity. Idursulfase, a specific enzyme replacement therapy (ERT) for MPSII, has been available since 2007. ERT, along with symptomatic management of patients, is fundamental for improving patient prognosis and quality of life. The aims of this study were to investigate whether Spanish pediatricians who are experts in managing the disease agreed with current international guidelines regarding MPSII patient diagnosis and follow-up; and to reach a consensus regarding which items are essential for the diagnosis, follow-up, and treatment of these patients in Spain. An advisory panel of 5 experts from the Hunter Spanish Working Group reviewed key studies, developed a questionnaire based on a modified Delphi method, sent the questionnaire to selected experts, and reviewed the responses. The final questionnaire had 83 items in the following categories: diagnosis, ERT considerations after diagnosis, Periodic assessments, and ERT considerations during follow-up. A total of 85 experts were invited to participate; 28 (35%) responded and showed a strong consensus for most items. The advisory panel decided not to perform a second Delphi round. There was strong agreement (>3.1 median value; range, 1 to 4) for 43/56 items in Diagnosis, for 4/6 items in "ERT considerations after diagnosis," for 6/16 items in "Periodic assessments," and for 3/5 items in "ERT considerations during follow-up." Most responses were in agreement with international guidelines, and controversial items were discussed by the advisory panel. Based on the results, on the key studies, and on clinical experience and opinions, the panel developed and scheduled recommendations for the diagnosis and follow-up of patients with MPSII. An expert 5-person panel oversaw a Delphi survey of 28 pediatricians and reached a consensus on recommendations for the diagnosis and follow-up of MPSII patients. This document will help guide clinicians involved in the diagnosis, management, and treatment of MPSI

Classic Ketogenic Diet and Modified Atkins Diet in SLC2A1 Positive and Negative Patients with Suspected GLUT1 Deficiency Syndrome: A Single Center Analysis of 18 Cases

Background: Glucose transporter type 1 deficiency syndrome (GLUT1DS) is caused by mutations in the SLC2A1 gene and produces seizures, neurodevelopmental impairment, and movement disorders. Ketogenic dietary therapies (KDT) are the gold standard treatment. Similar symptoms may appear in SLC2A1 negative patients. The purpose is to evaluate the effectiveness of KDT in children with GLUT1DS suspected SLC2A1 (+) and (-), side effects (SE), and the impact on patients nutritional status. Methods: An observational descriptive study was conducted to describe 18 children (January 2009–August 2020). SLC2A1 analysis, seizures, movement disorder, anti-epileptic drugs (AEDS), anthropometry, SE, and laboratory assessment were monitored baseline and at 3, 6, 12, and 24 months after the onset of KDT. Results: 6/18 were SLC2A1(+) and 13/18 had seizures. In these groups, the age for debut of symptoms was higher. The mean time from debut to KDT onset was higher in SLC2A1(+). The modified Atkins diet (MAD) was used in 12 (5 SLC2A1(+)). Movement disorder improved (4/5), and a reduction in seizures >50% compared to baseline was achieved in more than half of the epileptic children throughout the follow-up. No differences in effectiveness were found according to the type of KDT. Early SE occurred in 33%. Long-term SE occurred in 10, 5, 7, and 5 children throughout the follow-up. The most frequent SE were constipation, hypercalciuria, and hyperlipidaemia. No differences in growth were found according to the SLC2A1 mutation or type of KDT. Conclusions: CKD and MAD were effective for SLC2A1 positive and negative patients in our cohort. SE were frequent, but mild. Permanent monitoring should be made to identify SE and nutritional deficits

The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1

Glucose transporter 1 deficiency syndrome (GLUT1DS) is a neurometabolic disorder caused by haploinsufficiency of the GLUT1 glucose transporter (encoded by SLC2A1) leading to defective glucose transport across the blood–brain barrier. This work describes the genetic analysis of 56 patients with clinical or biochemical GLUT1DS hallmarks. 55.4% of these patients had a pathogenic variant of SLC2A1, and 23.2% had a variant in one of 13 different genes. No pathogenic variant was identified for the remaining patients. Expression analysis of SLC2A1 indicated a reduction in SLC2A1 mRNA in patients with pathogenic variants of this gene, as well as in one patient with a pathogenic variant in SLC9A6, and in three for whom no candidate variant was identified. Thus, the clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1Carlos III Institute (ISCIII), European Regional Development Funds (PI19/01155); CIBERER (ERTRLE0I1); Consejería de Educacion, Juventud y Deporte, Comunidad de Madrid (B2017/BMD3721); Fundacion Isabel Gemio, the Fundacion La Caixa (LCF/PR/ PR16/11110018