Spectrum Analysis of Inherited Metabolic Disorders for Expanded Newborn Screening in a Central Chinese Population

Neonatal inherited metabolic disorders (IMDs) are closely associated with early neonatal death and abnormal growth and development. Increasing attention has been paid to IMDs because of their high incidence and diversity. However, there are no reports about the incidence of IMDs in Changsha, China. Therefore, we retrospectively analyzed the screening results of neonates to evaluate the characteristics of IMDs in the area. From January 2016 to December 2020, 300,849 neonates were enrolled for expanded newborn screening by tandem mass spectrometry in the Neonatal Disease Screening Center of the Changsha Hospital for Maternal & Child Health Care. Newborns with mild initial results were recalled for repeated tests; if the second test was still positive, the patient was referred for confirmatory tests. A total of 71 confirmed cases were identified in our study, with an incidence rate of 1:4,237. There were 28 cases of amino acid metabolic disorders, representing 39.44% of the IMDs diagnosed, with an incidence rate of 1:10,745. Twelve newborns were diagnosed with organic acid metabolic disorders, accounting for 16.66% of IMDs, with an incidence rate of 1:25,071. There were 31 cases of fatty acid oxidation disorders, representing 43.05% of IMDs, with an incidence rate of 1:9,705. Overall, 14 types of IMDs were found in Changsha. The most common disorders in the region were primary carnitine deficiency, hyperphenylalaninemia and short-chain acyl-CoA dehydrogenase deficiency. Their incidence rate is respectively 1:13,675, 1:16,714 and 1:42,978. The mutations in PAH, SLC22A5, and ACADS are the leading causes of IMDs in this area. This study demonstrates the importance of utilizing MS/MS in IMD screening for early diagnosis and treatment. This strategy may be used for prenatal genetic counseling to avoid irreversible growth and intellectual development disorders in children.

BARRIERS TO THE USE OF METHYLPHENIDATE IN PAEDIATRIC NEURO-ONCOLOGY SERVICES

Background The increasing effectiveness of childhood cancer treatment has resulted in a greater number of children surviving previously incurable central nervous system tumours. This growing population of survivors report significant treatment-related difficulties, including attentional impairment associated with poor long-term intellectual development, academic attainment, and health-related quality of life. Clinical findings show benefit to attention and executive functions following methylphenidate administration. The current project explored barriers associated with use of methylphenidate in paediatric neuro-oncology services in the UK. Method Qualitative data was gathered by semi-structured questionnaire sent to clinical psychologists/neuropsychologists in 19 of the 21 NHS primary treatment oncology centres in the UK in May 2018. Thematic analytic methods were used to explore the data. Results 11 responses were received from primary treatment centres. Knowledge of the evidence base for methylphenidate in paediatric brain injury was limited. This was primarily attributable to the inadequate resource of psychology into many primary treatment centres, limiting provision to service to a restricted proportion of the patient group. Psychologists reported an interest in exploring the utility of methylphenidate in their patient group. Respondents highlighted the need for provision of accessible research summaries and treatment protocols addressing the potential use of psychostimulants, stating that these would support their team to consider expanding the interventions offered. Conclusions The development of shared resources for clinicians will be important in supporting the application of research findings to clinical practice. We anticipate national collaboration will support the advancement of intervention for the growing clinical population of long-term survivors.

INTERNALISASI PEDULI LINGKUNGAN PADA PESERTA DIDIK MELALUI PEMBELAJARAN BERBASIS LINGKUNGAN

Formal education is generally more concerned with intellectual development. Therefore, there are still many schools that have not optimally paid attention to the character of students, one of which is the character of caring for the environment which is currently a community need in the midst of the crisis of environmental destruction. The research that will be conducted is research with a qualitative approach, descriptive method. This study aims to find out how the internalization of environmental care for students through environment-based learning at SDN Cikokol 1. Data collection techniques use observations and interviews. The results showed that the internalization of environmental care through environment-based learning at SDN Cikokol 1 had been carried out well, it could be said that the students' understanding and awareness of environmental sustainability and existing environmental conditions had increased. Based on the results of research and discussion, it can be concluded how to overcome environmental problems in the future, namely by providing education about the environment from an early age through elementary schools.

Proposta curricular no âmbito educacional: relevâncias para construção de aprendizagens na escola / Curriculum proposal in the educational field: relevance for building learning at school

Resumo: Esse artigo faz uma reflexão da proposta curricular no âmbito educacional, cujo principal objetivo é analisar o documento mediante sua importância para os fazeres no contexto escolar. A análise é feita a partir dos estudos proporcionados pela extensão na Residência Pedagógica-CAPES-FACHUS e desenvolvidos na escola-campo, Doutor Severino Alves de Sá, no município de Salgueiro-PE. Sua fundamentação teve como base a Lei 9.394/96(LDB), A Base Nacional Comum Curricular – BNCC, assim como Veiga 2002 e Castro 2019. A metodologia elencada no desenrolar do conteúdo é decorrente de uma pesquisa bibliográfica de estudo analítico sobre o objeto aqui citado. Os resultados obtidos vêm ao encontro de todo exposto apresentado na fundamentação teórica embasada na LDB e BNCC, assim como nas afirmações dos autores e todo o conteúdo estudado. Vale afirmar que a análise do conteúdo proporcionado pela escola é de bastante relevância na construção da Proposta Curricular disponibilizada é parte integrante de seu PPP, atendendo assim todas as expectativas moduladas no decorrer do estudo. Os dados encontrados dispõem de componentes curriculares associados a conteúdos que sempre estão em pauta na atualidade. Considerando-se, portanto, que a proposta pedagógica curricular é um documento de fundamental importância para os seguimentos de conteúdo escolar em prol da formação integral do aluno, do desenvolvimento intelectual e de sua consciência no mundo do saber e das transformações que por ele se dão. Palavras-Chave: Proposta curricular. Disciplinas. Contexto escolar. Abstract: This article reflects on the curriculum proposal in the educational field, whose main objective is to analyze the document according to its importance for the actions in the school context. The analysis is made from the studies provided by the extension in the Pedagogical Residency-CAPES-FACHUS and developed in the field-school, Doutor Severino Alves de Sá, in the municipality of Salgueiro-PE. Its theoretical foundation was based on Law 9,394/96 (LDB), The Common National Curriculum Base – BNCC, as well as Veiga 2002 and Castro 2019. cited here. The results obtained are in line with all the above presented in the theoretical foundation based on the LDB and BNCC, as well as the authors' statements and all the studied content. It is worth stating that the analysis of the content provided by the school is very relevant in the construction of the Curriculum Proposal made available and is an integral part of the school's PPP, thus meeting all the expectations found in the course of the study. The data found have curricular components associated with contents that are always on the agenda today. Considering, therefore, that the curricular pedagogical proposal is a document of fundamental importance for the segments of school content in favor of the integral formation of the student, intellectual development and their awareness in the world of knowledge and the transformations that take place through it. Keywords: Curriculum proposal. Disciplines. School context.

HUSTYNSKYI LITOPYS: A DOCUMENTARY MONUMENT OF UKRAINIAN HISTORICAL THOUGHT OF THE SEVENTEENTH CENTURY

Ukrainian historical thought of the seventeenth century is an interesting intellectual phenomenon, the genesis and social and cultural functioning of which took place against the background of political, geopolitical and interfaith confrontation in Eastern Europe. In Ukrainian historiography, this period of cultural and intellectual development was called “the first Ukrainian national and cultural revival”. Its characteristic feature was the growing interest of society in historical memory, in particular, in the memory of the Ancient Rus era as the origins of Rus-Ukraine, which is trying to find its place among other peoples of Europe. The question of reflecting the ancient n era in the historical thought of Ukraine in the late sixteenth − seventeenth centuries. in historiography it is elaborated in fragments, within the framework of side plots, at best, at the level of coverage of the views of individual authors (Feodosii Sofonovych, Inokentii Hizel, author of the Ukrainian Chronograph, some Polish writers, etc.). Among the monuments of historical thought of this tame period, the “Hustynskyi Litopys” attracts attention, the authorship of which is still the subject of discussion. The problem of authorship of the monument is quite old, but this issue has not been finally resolved. There is an assumption that y 20s of the seventeenth century. Zacharii Kopystenskyi worked on the chronicle. The list of Mykhailo Losytskyi, the hieromonk of the Hustyn monastery, made in 1670, is considered to be the final edition of the monument. This editing preserves the conceptual identity and consistency of presentation. The chronicle, despite its conceptual dependence on Polish literature, is based on its own concept, within substantiates the peculiarities of Rus' historical path among neighboring peoples, and explains the genesis of the Cossack factor, which became decisive in Eastern European politics of the sixteenth and seventeenth centuries. Ukrainian historical thought in the form of a chronicle of the 16−17th century needs further meticulous research.

Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis

The term “arthrogryposis” is used to indicate multiple congenital contractures affecting two or more areas of the body. Arthrogryposis is the consequence of an impairment of embryofetal neuromuscular function and development. The causes of arthrogryposis are multiple, and in newborns, it is difficult to predict the molecular defect as well as the clinical evolution just based on clinical findings. We studied a consecutive series of 13 participants who had amyoplasia, distal arthrogryposis (DA), or syndromic forms of arthrogryposis with normal intellectual development and other motor abilities. The underlying pathogenic variants were identified in 11 out of 13 participants. Correlating the genotype with the clinical features indicated that prenatal findings were specific for DA; this was helpful to identify familial cases, but features were non-specific for the involved gene. Perinatal clinical findings were similar among the participants, except for amyoplasia. Dilatation of the aortic root led to the diagnosis of Loeys–Dietz syndrome (LDS) in one case. The phenotype of DA type 5D (DA5D) and Escobar syndrome became more characteristic at later ages due to more pronounced pterygia. Follow-up indicated that DA type 1 (DA1)/DA type 2B (DA2B) spectrum and LDS had a more favorable course than the other forms. Hand clenching and talipes equinovarus/rocker bottom foot showed an improvement in all participants, and adducted thumb resolved in all forms except in amyoplasia. The combination of clinical evaluation with Next Generation Sequencing (NGS) analysis in the newborn may allow for an early diagnosis and, particularly in the DAs, suggests a favorable prognosis.

Taxonomic Analysis of the Levels of Understanding Bulgarian in Students with Intellectual Development Disorders

In the context of inclusive education, students with intellectual development disorders can be found very often at mainstream schools. Therefore, it is necessary to develop different models and didactic materials to help teachers deal with such students. The report attempts to compare the curriculum in Bulgarian language for Grade 4 to Bloom’s taxonomy. The ultimate goal is to achieve maximum facilitation of teachers and preparation of accessible teaching materials for students with intellectual development disorders.

REFLEXIÓN SOBRE EL DISEÑO INTERIOR EN ESPACIOS EDUCATIVOS A PARTIR DE LAS INTELIGENCIAS MÚLTIPLES DE GARDNER

El aprendizaje preescolar tiene como uno de sus objetivos facilitar el proceso de enseñanza, aplicando diversas metodologías en el aula de clase, con el propósito de reforzar el conocimiento y la inteligencia de los alumnos. Es así como busca fortalecer y fomentar el desarrollo inclusivo en niñas y niños para su óptimo desarrollo humano e intelectual en el espacio que acoge las actividades diarias de los establecimientos educativos, acompañando los objetivos de dichas instituciones. El presente artículo da cuenta de una reflexión respecto al diseño de espacios interiores para la educación primaria desde la mirada de las ocho Inteligencias Múltiples (IMG) del psicólogo y pedagogo Howard Gardner, este a su vez revisa y relaciona bibliografía sobre el trabajo de Gardner y propone alternativas para el diseño de espacios interiores que se correspondan con las IMG. Palabras clave: Desarrollo infantil, educación inicial, espacios preescolares, Howard Gardner, IMG, inclusión. AbstractThe objective of preschool learning is to facilitate the teaching process by applying various methodologies in the classroom to reinforce the knowledge and intelligence of the students. This is how preschool learning seeks to strengthen and promote inclusive development in girls and boys for their optimal human and intellectual development in the space that hosts students´ daily activities, so that these institutions attain their objectives. This article gives a reflection of interior design spaces for primary education from Eight Multiple Intelligences perspective by the psychologist and pedagogue Howard Gardner (IMG); at the same time, it reviews and relates bibliography on Gardner's work and proposes alternatives for the design of interior spaces that correspond to the IMG. Keywords: Child development, Early childhood education, Howard Gardner, Inclusion, IMG, Preschool spaces.

The Problem of Mental Development in Children with Autistic Disorders

The clinical-psychological-pedagogical picture of autistic personality disorders of a child is highly complex and diverse compared to other mental development disorders. The divergence of researchers' views on the autism clinic leads to a scientific discussion on the problem of conceptual and terminological base of definitions and concepts, so, as a consequence, the problem has a conceptual and diagnostic orientation. Summarizing the research of scientists, we highlight the characteristic manifestations of autism in older preschool age: lack of mental activity; violation of the interaction of mental functions; unevenness, partialness of intellectual development; gross violations of purposefulness and arbitrariness of attention; lack of lively interest, interest in the new, environmental research; the tendency to perceive information as if passively absorbing it into whole blocks; the reaction of departure from the influences of the environment directed on the child; adverse reaction or no reaction at all when trying to draw attention to the objects of the surrounding reality; rapid exhaustion and oversaturation with any purposeful activity; difficulty concentrating; difficulties in symbolization, transfer of skills from one situation to another; impaired formation of social and communicative functions. Having analyzed many scientific studies, we can determine the number and variety of speech disorders in children with autistic disorders: challenging to interpret crying; limited barking; lack of imitation of sounds; phonography of speech; mutism; echolalia; words-stamps, phrases-stamps; neologisms; limited use of pronouns; lack of speech in speech; speech autonomy; speech disorders; inability to form words; violation of the semantic, syntactic, grammatical structure of speech; violation of speech melody; violation of prosodic components of speech; inability to engage in dialogue; specificity of the development of monologue speech.

PHENOMENON VALUE ORIENTATIONS OF CHILDREN OF SENIOR PRESCHOOL AGE IN THE CONTEXT OF MODERN EDUCATIONAL STANDARDS

Modern society pays considerable attention to the intellectual development of children. Emotional and value development of preschool children for many years remained out of the attention of the educational department, parents. The new state standard of preschool education has initiated positive changes in this direction, but the problem of the uniqueness of the formation of value orientations of older preschool children is little studied, which increases the urgency of the problem. The aim of the article is to reveal the structure of the phenomenon of value orientations of older preschool children, its features in the light of educational reformation processes. The article highlights the components of the phenomenon of value orientations of older preschool children: emotional, semantic, and activity. It highlights the components that correspond to these components: emotional-volitional, cognitive, and activity. The criteria of each component are defined: emotional-volitional – sensory-oriented criterion, cognitive – knowledge-oriented, activity - operational. These criteria are met by indicators of the formation of value orientations of older preschool children. Indicators of understanding the emotions, the expression of compassion, the ability to control emotions correspond to the sensory-oriented criterion; knowledge-oriented criterion includes the presence of knowledge about the values of interaction, empathy and friendship, the content and rules of mobile games, the rules of conduct in the game; operational criterion is responsible for the ability to express emotions and respond to the emotions of others, follow the rules of the game, take responsibility, initiate and establish interaction between all participants in the game. The research work was carried out using the methods of analysis, synthesis, induction, deduction, comparison, systematization, scientific generalization, dialectical method of cognition. As a result of the study we provide three-stage integral of the phenomenon of value orientations of preschool children with selected components, components, indicators and methods.