Utilidad de los arrays de hibridación genómica comparada (aCGH) en el diagnóstico de niños con discapacidad intelectual y trastornos del espectro autista

La tecnología de microarrays cromosómicos (CMA) mediante arrays o matrices de Hibridación Genómica Comparada (aCGH) permite detectar cambios en el número de copias (deleciones y duplicaciones) a lo largo de todo el genoma con alta resolución y rapidez. Se ha relacionado la presencia de cambios en el número de copias y discapacidad intelectual, trastorno del espectro autista y múltiples malformaciones congénitas, y hay consenso sobre la utilización de los CMA como primera línea diagnóstica en estos casos. En el presente estudio se analiza el rendimiento diagnóstico, la asociación de variables clínicas y demográficas con patología y se realiza un análisis coste efectividad

Pontocerebellar hypoplasia secondary to CASK gene deletion: Case report

Pontocerebellar hypoplasia (PCH) is a reduction of the size of the cerebellum and pons secondary to an alteration in its development, and can be caused by neurodegenerative diseases of genetic origin, of which there are known 10 subtypes (PCH 1-10), cortical malformations, metabolic and genetic diseases. To present the case of a child with microcephaly, PCH and West syndrome, in which the genetic study allowed to make the diagnosis of a deletion on chromosome X. This is a female infant of 7-month at diagnosis, without family or obstetric history of interest, head circumference at birth -1.5 standard deviations (SD). She had little weight and growth in head circumference progression. In addition, physical examination revealed no fixating gaze, hypotonia with preserved deep tendon reflexes. Progressively developed refractary seizures. Brainsteam Auditory Evoked Potential demonstrated involvement of pontomesencefphalic ways and neuroimaging Pontocerebellar hypoplasia. The genetic study (aCGH) showed heterozygous deletion on the X chromosome, affecting the CASK gene. Given the wide differential diagnosis proposed at the PCH, new cytogenetic techniques have improved the classification of HPC and in some cases establish their etiology, so in these cases can provide appropriate genetic counseling to families

ABCB4 variants in adult patients with cholestatic disease are frequent and underdiagnosed

Heterozygous ABCB4 variants are not routinely tested in adults with cholestasis because of their supposed rarity and high costs

Dewey’s Contribution to the Formation of Ideas of Humanistic Education of the Children in the Families of the USA

Автором визначено ключові ідеї гуманістичного виховання в родині, а саме: зв’язок шкільного й родинного виховання з реаліями життя; спрямованість виховного процесу на активність дитини, на виконання нею конкретних практичних справ, на її інтереси. Установлено, що концепція виховання за Дж. Дьюї належить до прагматизму. Позиція теоретика щодо організації родинного виховання дітей поєднує соціо-зорієнтовані та педоцентристські ідеї. У статті визначено, що Дж. Дьюї цінував американську демократію і вважав запорукою її збереження та зміцнення гуманістичне виховання дитини в родині. У ході дослідження виявлено актуальність гуманістичної педагогіки за Дж. Дьюї, яка вимагає від батьків-вихователів пристосування до індивідуальних особливостей дитини, забезпечення атмосфери комфорту та «психологічної безпеки».This publication analyzes the humanistic ideas of personal development in the pedagogical heritage of J. Dewey. In particular it is stated that J. Dewey saw interrelated changes in rational and emotional areas that characterize the level of harmony, its self-aggrandizement in this development. The author has accepted the fact that namely achievement of this harmony is the strategic direction of humanistic education in modern families of the USA. The author has defined the key ideas of humanistic education in the family, namely the relationship of school and family education with the realities of life; the orientation of the educational process on the child’s activity, on the fulfillment of specific practical cases, on its interests. It is found out that the concept of education by J. Dewey refers to pragmatism. The position of a theorist about the organization of a family upbringing combines socio-oriented and child-oriented ideas. It is noted that J. Dewey appreciated American democracy and considered humanistic education of the child in the family as a key of its preservation and strengthening. The significant tendency in the concept of «school of child’s life» by J. Dewey is the reliance on natural processes of physical and spiritual growth, on satisfaction of natural inclinations, on organization of children’s activities in the educational process. The study has revealed the relevance of humanistic pedagogy of John Dewey which requires the parents to adapt to the individual characteristics of the child, to provide an atmosphere of comfort and «psychological safety». The reformer’s recommendations for the teachers and parents that engage home education are focused on: the unity of the development and education; differentiation and diversification of educational influences; individualization of educating communication; creating the favorable conditions for the development of aptitudes and abilities of the child; a comfortable interaction between different generations in the family; psychological safety, protection of the child; a faith in its strength and capabilities; adoption of the child as it is; positioning of the child’s behavior and actions with success; a change of the target set education on the individual development of the child; providing systematic «spiritual meetings with intelligent people». The perspective direction of the research is the pedagogical analysis and recommendations for the parents in the works of J. Dewey and A. S. Makarenko

Additional file 1: of Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients

List of phenotypes potentially related to hearing defects used as keywords for initial query on HGMD. (XLSX 16 kb

Additional file 6: of Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients

Highly homologous conflictive regions. (XLSX 11 kb

Additional file 2: of Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients

Tier 1 and tier 2 genes included in v1 of the panel. (XLSX 13 kb

Additional file 4: of Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients

Cases analyzed with each panel version. (XLSX 10 kb

Additional file 8: of Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients

Samples with STRC CNVs. (XLSX 9 kb