Search results for "INTELLECTUAL DISABILITY"
showing 10 items of 303 documents
Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review.
2021
KBG syndrome (OMIM #148050) is a rare autosomal dominant disorder, typically characterized by macrodontia of the upper central incisors, distinct craniofacial findings, short stature, and skeletal anomalies associated with neurological involvement including intellectual disability, behaviour difficulties, and epilepsy. KBG syndrome is associated with mutations in ANKRD11 gene that plays a chromatin regulator role of histone acetylation and gene expression during neurogenesis in the embryonic brain.
Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature
2016
Item does not contain fulltext Verheij syndrome, also called 8q24.3 microdeletion syndrome, is a rare condition characterized by ante- and postnatal growth retardation, microcephaly, vertebral anomalies, joint laxity/dislocation, developmental delay (DD), cardiac and renal defects and dysmorphic features. Recently, PUF60 (Poly-U Binding Splicing Factor 60 kDa), which encodes a component of the spliceosome, has been discussed as the best candidate gene for the Verheij syndrome phenotype, regarding the cardiac and short stature phenotype. To date, only one patient has been reported with a de novo variant in PUF60 that probably affects function (c.505C>T leading to p.(His169Tyr)) associated wi…
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…
Inhibition of histone deacetylation rescues phenotype in a mouse model of Birk-Barel intellectual disability syndrome
2020
Mutations in the actively expressed, maternal allele of the imprinted KCNK9 gene cause Birk-Barel intellectual disability syndrome (BBIDS). Using a BBIDS mouse model, we identify here a partial rescue of the BBIDS-like behavioral and neuronal phenotypes mediated via residual expression from the paternal Kcnk9 (Kcnk9pat) allele. We further demonstrate that the second-generation HDAC inhibitor CI-994 induces enhanced expression from the paternally silenced Kcnk9 allele and leads to a full rescue of the behavioral phenotype suggesting CI-994 as a promising molecule for BBIDS therapy. Thus, these findings suggest a potential approach to improve cognitive dysfunction in a mouse model of an impri…
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.
2020
PurposeMarfanoid habitus (MH) combined with intellectual disability (ID) (MHID) is a clinically and genetically heterogeneous presentation. The combination of array CGH and targeted sequencing of genes responsible for Marfan or Lujan–Fryns syndrome explain no more than 20% of subjects.MethodsTo further decipher the genetic basis of MHID, we performed exome sequencing on a combination of trio-based (33 subjects) or single probands (31 subjects), of which 61 were sporadic.ResultsWe identified eight genes with de novo variants (DNVs) in at least two unrelated individuals (ARID1B, ATP1A1, DLG4, EHMT1, NFIX, NSD1, NUP205 and ZEB2). Using simulation models, we showed that five genes (DLG4, NFIX, …
A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.
2007
X-linked mental retardation has been traditionally divided into syndromic (S-XLMR) and non-syndromic forms (NS-XLMR), although the borderlines between these phenotypes begin to vanish and mutations in a single gene, for example PQBP1, can cause S-XLMR as well as NS-XLMR. Here, we report two maternal cousins with an apparently X-linked phenotype of mental retardation (MR), microphthalmia, choroid coloboma, microcephaly, renal hypoplasia, and spastic paraplegia. By multipoint linkage analysis with markers spanning the entire X-chromosome we mapped the disease locus to a 28-Mb interval between Xp11.4 and Xq12, including the BCOR gene. A missense mutation in BCOR was described in a family with …
Effect of perceived stigmatisation on the quality of life among ageing female family carers: a comparison of carers of adults with intellectual disab…
2009
Background Little account has been taken of quality of life (QoL) among family carers of adults with an intellectual disability (ID) and family carers of adults with a mental illness (MI), particularly the female ageing carers' perceived stigma. We explore whether there are differences in the significant predictors of female ageing family carers' QoL between family carers of adults with ID and family carers of adults with MI and aim to examine the effect of these differences in stigma on carer QoL between the two groups. Methods A structural survey interview was administered to 350 female family carers supporting persons with ID and 66 female carers supporting persons with MI; the carers …
The treatment of severe self-injurious behavior through sensory stimulation: A case report
2016
Self-injurious behavior of an institutionalized man with profound intellectual disability was treated with a daily 15-min sensory stimulation program, which consisted of moving the arms and hands of the participant, swinging his body, and massage. The frequency of self-injurious behavior was measured in 10-min sessions. Using a reversal design, it was shown that sensory stimulation decreased the participant’s self-hitting behavior significantly, both in intensity and in frequency. Sensory stimulation is recommended for use in those cases in which functional analysis has shown that self-injury may be reinforced by its sensory consequences.
De novo GRIN2A variants associated with epilepsy and autism and literature review
2021
N-methyl-D-aspartate receptors (NMDAR) are di- or tri-heterotetrameric ligand-gated ion channels composed of two obligate glycine-binding GluN1 subunits and two glutamate-binding GluN2 or GluN3 subunits, encoded by GRIN1, GRIN2A–D, and GRIN3A–B receptor genes respectively. Each NMDA receptor subtype has different temporal and spatial expression patterns in the brain and varies in the cell types and subcellular localization resulting in different functions. They play a crucial role in mediating the excitatory neurotransmission, but are also involved in neuronal development and synaptic plasticity, essential for learning, memory, and high cognitive functions. Among genes coding NMDAR subunits…
Prevalence and incidence of workplace bullying among Spanish employees working with people with intellectual disability
2012
Abstract Background Although workplace bullying is a severe psychosocial risk with a high prevalence, there is a lack of studies addressing its incidence, particularly among staff working with people with intellectual disability. Objectives We examined the prevalence and incidence of workplace bullying in a sample of Spanish employees working with people with intellectual disability. The socio-demographic characteristics of victims and non-victims of workplace bullying were also analyzed. Methods Multicenter study with two phases (T1 and T2) carried out in Valencia (Spain). The sample consisted of 696 employees from 66 centers in T1. One year later (T2), 422 employees from 61 centers agreed…