Search results for "Intellect"
showing 10 items of 642 documents
Stoic pragmatist ethics in the time of pandemic
2021
Abstract The present paper is a response, of sorts, to the challenges of the coronavirus pandemic (COVID) and lockdown that we all must face. We have an idea of what doctors, nurses, teachers, among many of the other professions, do for the general public, but one may ask whether there is something substantial that philosophers and ethicists can offer in these circumstances. The thesis of this paper is that the stoic attitude towards times of trouble and the pragmatist way of finding out what is possible to elevate the quality of living against all odds, if skilfully interwoven, could be an important tool in keeping mental health in good shape and, additionally, could contribute to the cult…
Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures
2014
International audience; Distal limb contractures (DLC) represent a heterogeneous clinical and genetic condition. Overall, 20–25% of the DLC are caused by mutations in genes encoding the muscle contractile apparatus. Large interstitial deletions of the 3p have already been diagnosed by standard chromosomal analysis, but not associated with a specific phenotype. We report on four patients with syndromic DLC presenting with a de novo 3p14.1p13 micro-deletion. The clinical features associated multiple contractures, feeding problems, developmental delay, and intellectual disability. Facial dysmorphism was constant with low-set posteriorly rotated ears and blepharophimosis. Review of previously r…
Exome sequencing in a child with neurodevelopmental disorder and epilepsy: Variant analysis of the AHNAK2 gene
2022
Background The AHNAK2 gene encodes a large nucleoprotein expressed in several tissues, including brain, squamous epithelia, smooth muscle, and neuropil. Its role in calcium signaling has been suggested and to date, clear evidence about its involvement in the pathogenesis of clinical disorders is still lacking. Methods Here, we report a female 24-year-old patient diagnosed with a cardio-facio-cutaneous-like phenotype (CFC-like), characterized by epilepsy, psychomotor development delay, atopic dermatitis, congenital heart disease, hypotonia, and facial dysmorphism, who is compound heterozygote for two missense mutations in the AHNAK2 gene detected by exome sequencing. Results This patient had…
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction
2021
AbstractWhereas large-scale statistical analyses can robustly identify disease-gene relationships, they do not accurately capture genotype-phenotype correlations or disease mechanisms. We use multiple lines of independent evidence to show that different variant types in a single gene,SATB1, cause clinically overlapping but distinct neurodevelopmental disorders. Clinical evaluation of 42 individuals carryingSATB1variants identified overt genotype-phenotype relationships, associated with different pathophysiological mechanisms, established by functional assays. Missense variants in the CUT1 and CUT2 DNA-binding domains result in stronger chromatin binding, increased transcriptional repression…
Transcriptomic metaanalyses of autistic brains reveals shared gene expression and biological pathway abnormalities with cancer
2019
Este es el artículo que se ha publicado de forma definitiva en: https://molecularautism.biomedcentral.com/articles/10.1186/s13229-019-0262-8 En este artículo también participa Joan Climent, Vera Pancaldi, Lourdes Fañanás, Celso Arango, Mara Parellada, Anaïs Baudot, Daniel Vogt, John L. Rubenstein, Alfonso Valencia y Rafael Tabarés-Seisdedos. Background: Epidemiological and clinical evidence points to cancer as a comorbidity in people with autism spectrum disorders (ASD). A significant overlap of genes and biological processes between both diseases has also been reported. Methods: Here, for the first time, we compared the gene expression profiles of ASD frontal cortex tissues and 22 cancer t…
Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: a differential diagnosis of ceroid lipofuscinosis.
2014
The 15q13.3 heterozygous microdeletion is a fairly common microdeletion syndrome with marked clinical variability and incomplete penetrance. The average size of the deletion, which comprises six genes including CHRNA7, is 1.5 Mb. CHRNA7 has been identified as the gene responsible for the neurological phenotype in this microdeletion syndrome. Only seven patients with a homozygous microdeletion that includes at least CHRNA7, and is inherited from both parents have been described in the literature. The aim of this study was to further describe the distinctive eye manifestations from the analysis in the three French patients diagnosed with the classical 1.5 Mb homozygous microdeletion. Patients…
Underemployment among mothers of children with intellectual disabilities
2018
Background Mothers with lifelong care responsibilities might involuntarily be non-employed or work part-time, both of which are defined as “underemployment.” This study aimed to investigate who these underemployed mothers are and what are the factors associated with such employment hardship when having a child with intellectual disability (ID). Method An interview survey was conducted in 2011 in two local authorities of Taiwan on 876 working-age mothers with a child with intellectual disability; 514 of them were working part-time/non-employed and chosen as participants of this study. Results The mothers with a younger child with intellectual disability, a higher level of education, a lower …
Rodzice jako partnerzy procesu rozbudzania dziecięcej aktywności matematycznej
2017
Children learn in a spontaneous and continuous way: when they look at an object, paying more attention to it, or when they notice something accidentally, when they perform simple actions of daily routine, or even when they turn to a grown-up with a question. Therefore, forming proper mathematical intuition should not be limited merely to activities at school, but should proceed natural, also during everyday activities, while playing games or talking to other children or the parents. The individual’s own activity plays a particular role in the development of mathematical skills in children. And it is parents who have the greatest say as regards the lines along which the child’s activity is d…
¿Hay diferencias entre las actitudes hacia la conducta sexual que tienen las personas con discapacidad intelectual y las de los profesionales que tra…
2020
Las actitudes hacia la sexualidad constituyen uno de los elementos cognitivo-emocionales más determinantes del funcionamiento sexual. En este sentido, la sexualidad de las personas con discapacidad intelectual (DI) está fuertemente influenciada por diversos mitos, estereotipos y prejuicios que repercuten en la perpetuación de ciertas actitudes negativas que limitan sus vivencias sexuales. El objetivo de este estudio es analizar las actitudes hacia la conducta sexual de las personas con discapacidad intelectual que poseen las propias personas que integran este colectivo y los profesionales que trabajan con ellos. Para ello, se utiliza la Escala de percepción sexual para personas con discapac…
A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever
2021
Aminoacyl-tRNA synthetases (aaRS) are ubiquitously expressed enzymes responsible for ligating amino acids to their cognate tRNA molecules through an aminoacylation reaction. The resulting aminoacyl-tRNA is delivered to ribosome elongation factors to participate in protein synthesis. Seryl-tRNA synthetase (SARS1) is one of the cytosolic aaRSs and catalyzes serine attachment to tRNASer . SARS1 deficiency has already been associated with moderate intellectual disability, ataxia, muscle weakness, and seizure in one family. We describe here a new clinical presentation including developmental delay, central deafness, cardiomyopathy, and metabolic decompensation during fever leading to death, in a…