Search results for "Intellect"

éducation et cultures dans l'Europe occidentale chrétienne (du XIIe au milieu du XVe siècle)

1999

International audience

Phenotype associated with TAF2 biallelic mutations: a clinical description of four individuals and review of the literature

2021

International audience; Transcription factor IID is a multimeric protein complex that is essential for the initiation of transcription by RNA polymerase II. One of its critical components, the TATA-binding protein-associated factor 2, is encoded by the gene TAF2. Pathogenic variants of this gene have been shown to be responsible for the Mental retardation, autosomal recessive 40 syndrome. This syndrome is characterized by severe intellectual disability, postnatal microcephaly, pyramidal signs and thin corpus callosum. Until now, only three families have been reported separately. Here we report four individuals, from two unrelated families, who present with severe intellectual disability and…

Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome

2015

Mowat-Wilson syndrome (MWS) is a rare genetic syndrome characterized by a specific facial gestalt, intellectual deficiency, Hirschsprung disease and multiple congenital anomalies. Heterozygous mutations or deletions in the zinc finger E-box-binding homeobox2 gene (ZEB2) cause MWS. ZEB2 encodes for Smad-interacting protein 1, a transcriptional co-repressor involved in TGF-beta and BMP pathways and is strongly expressed in early stages of development in mice. Eye abnormalities have rarely been described in patients with this syndrome. Herein, we describe four patients (two males and two females; mean age 7 years) with MWS and eye malformations. Ocular anomalies included, iris/retinal coloboma…

Kształtowanie intuicji matematycznych w trakcie pozaszkolnej aktywności dziecka

2016

Implementation of Sample Pooling Procedure Using a Rapid SARS-CoV-2 Diagnostic Real-Time PCR Test Performed Prior to Hospital Admission of People wit…

2021

Reliability, accuracy, and timeliness of diagnostic testing for SARS-CoV-2 infection have allowed adequate public health management of the disease, thus notably helping the timely mapping of viral spread within the community. Furthermore, the most vulnerable populations, such as people with intellectual disability and dementia, represent a high-risk group across multiple dimensions, including a higher prevalence of pre-existing conditions, lower health maintenance, and a propensity for rapid community spread. This led to an urgent need for reliable in-house rapid testing to be performed prior to hospital admission. In the present study, we describe a pooling procedure in which oropharyngeal…

Gross motor proficiency and intellectual functioning

2018

Abstract This cross-sectional study examines differences in gross motor proficiency as a function of different intellectual functioning profiles. Two motor areas have been investigated as being equally essential to gross motor functions in every-day life: locomotion and object control. It aims to compare gross motor skills endorsed by children with Down syndrome (DS), children with borderline intellectual functioning (BIF), and typically developing children (TDC). Group 1 was composed of 18 children with DS (chronological age = 8.22), group 2 was composed of 18 children with BIF (chronological age = 9.32), and group 3 was composed of 18 children with typical development (TD) (chronological …

Les représentations mariales dans l'art occidental. étude sur la formation d'une tradition iconographique

1996

D. Iogna Prat, E. Palazzo et D. Russo; International audience

Propriété industrielle. Codification

1992

International audience; (Loi n° 92-597 du 1er juillet 1992)

La musique dans le Banquet du Faisan d'après Olivier de la Marche

2003

dir. Jean-Marie Cauchies; International audience

Intronic Variant in CNTNAP2 Gene in a Boy With Remarkable Conduct Disorder, Minor Facial Features, Mild Intellectual Disability, and Seizures

2020

Introduction: Mutations in the contactin-associated protein-like 2 (CNTNAP2) gene (MIM#604569) encoding for CASPR2, a cell adhesion protein of the neurexin family, are known to be associated with autism, intellectual disability, and other neuropsychiatric disorders. A set of intronic deletions of CNTNAP2 gene has also been suggested to have a causative role in individuals with a wide phenotypic spectrum, including Pitt-Hopkins syndrome, cortical dysplasia–focal epilepsy syndrome, Tourette syndrome, language dysfunction, and abnormal behavioral manifestations. Case presentation: A 10-years-old boy was referred to the hospital with mild intellectual disability and language impairment. Moreove…