Search results for "Intellect"
showing 10 items of 642 documents
Redefining the MED13L syndrome
2015
Congenital cardiac and neurodevelopmental deficits have been recently linked to the mediator complex subunit 13-like protein MED13L, a subunit of the CDK8-associated mediator complex that functions in transcriptional regulation through DNA-binding transcription factors and RNA polymerase II. Heterozygous MED13L variants cause transposition of the great arteries and intellectual disability (ID). Here, we report eight patients with predominantly novel MED13L variants who lack such complex congenital heart malformations. Rather, they depict a syndromic form of ID characterized by facial dysmorphism, ID, speech impairment, motor developmental delay with muscular hypotonia and behavioral difficu…
Towards text simplification for poor readers with intellectual disability: When do connectives enhance text cohesion?
2013
Abstract Cohesive elements of texts such as connectives (e.g., but, in contrast) are expected to facilitate inferential comprehension in poor readers. Two experiments tested this prediction in poor readers with intellectual disability (ID) by: (a) comparing literal and inferential text comprehension of texts with and without connectives and/or high frequency content words (Experiment 1) and (b) exploring the effects of type and familiarity of connectives on two-clause text comprehension by means of a cloze task (Experiment 2). Neither the addition of high frequency content words nor connectives in general produced inferential comprehension improvements. However, although readers with ID wer…
Who do you refer to? How young students with mild intellectual disability confront anaphoric ambiguities in texts and sentences.
2015
Along 2 experiments we tested the anaphoric pronoun resolution abilities of readers with intellectual disability in comparison with chronological and reading age-matched groups. In Experiment 1, the anaphor test of Elosua, Carriedo, and Garcia-Madruga (2009) confirmed that readers with intellectual disability (ID) are slower than control readers resolving clitic anaphoric pronouns, especially when the use of morphological cues (e.g. gender) is necessary. In order to test if the poor performance could be due to low levels of metacognitive skills during reading, an inconsistency detection task combined with eye tracking was designed in Experiment 2. Participants read short texts with an anaph…
Pragmatic competence of children with autism spectrum disorder. Impact of theory of mind, verbal working memory, ADHD symptoms, and structural langua…
2017
The primary aim of this study is to increase the existing knowledge about the pragmatic skills of children with autism spectrum disorders (ASD). Specifically, the study has two objectives. The first is to provide a profile of characteristics based on The Children's Communication Checklist (CCC-2) pragmatics scales (inappropriate initiation, stereotyped language, use of context, nonverbal communication, and general pragmatics) and narrative task indicators. To this end, children with ASD will be compared to children with typical development (TD), controlling the effects of sex and structural language (speech, syntax, semantics, coherence). The second objective is to analyze whether theory of…
Association of a functional deficit of the BKCa channel, a synaptic regulator of neuronal excitability, with autism and mental retardation
2006
International audience; Objective: Autism is a complex, largely genetic psychiatric disorder. In the majority of cases, the cause of autism is not known, but there is strong evidence for a genetic etiology. To identify candidate genes, the physical mapping of balanced chromosomal aberrations is a powerful strategy, since several genes have been characterized in numerous disorders. In this study, the authors analyzed a balanced reciprocal translocation arising de novo in a subject with autism and mental retardation. Method: The authors performed the physical mapping of the balanced 9q23/ 10q22 translocation by fluorescent in situ hybridization experiments using bacterial artificial chromosom…
The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.
2012
Background DYRK1A plays different functions during development, with an important role in controlling brain growth through neuronal proliferation and neurogenesis. It is expressed in a gene dosage dependent manner since dyrk1a haploinsufficiency induces a reduced brain size in mice, and DYRK1A overexpression is the candidate gene for intellectual disability (ID) and microcephaly in Down syndrome. We have identified a 69 kb deletion including the 5′ region of the DYRK1A gene in a patient with growth retardation, primary microcephaly, facial dysmorphism, seizures, ataxic gait, absent speech and ID. Because four patients previously reported with intragenic DYRK1A rearrangements or 21q22 microd…
Speech perception outcomes after cochlear implantation in prelingually deaf infants: The Western Sicily experience
2013
Objectives: To describe audiometric characteristics and speech perception performances of prelingually deaf Sicilian children after cochlear implantation; to identify the influence of cochlear implant (CI) user and family's characteristics on speech recognition and intelligibility outcomes. Methods: Twenty-eight infants with a congenital or acquired hearing impairment and implanted before the 3rd year of life were studied; all children suffered from bilateral sensorineural hearing loss (SNHL) with evidence of lack of hearing aids benefit and no evidence of intellectual disability. The study of the main characteristics associated with CI user and family's profile was performed with a clinica…
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disabilit…
2019
International audience; Purpose Lanosterol synthase (LSS) gene was initially described in families with extensive congenital cataracts. Recently, a study has highlighted LSS associated with hypotrichosis simplex. We expanded the phenotypic spectrum of LSS to a recessive neuroectodermal syndrome formerly named alopecia with mental retardation (APMR) syndrome. It is a rare autosomal recessive condition characterized by hypotrichosis and intellectual disability (ID) or developmental delay (DD), frequently associated with early-onset epilepsy and other dermatological features. Methods Through a multicenter international collaborative study, we identified LSS pathogenic variants in APMR individu…
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 …
Emotional awareness and cognitive performance in borderline intellectual functioning young adolescents
2019
According to DSM-5 and ICD-10, borderline intellectual functioning (BIF) should not be classified properly as a disorder. However, BIF people may present relevant problems of adaptive functioning in several areas of daily activities, and they seem to be more vulnerable to mental diseases. Young adolescence may be considered a particular period for emotional information processing. The "own and others' emotions" awareness can play a crucial role in many daily life situations, such as decision making, interpersonal relationships, and decoding of facial expressions. On this background, a BIF young adolescents group underwent a neuropsychological assessment including emotional and cognitive dom…