Search results for "Intellect"
showing 10 items of 642 documents
Working memory, intelligence and knowledge base in adult persons with intellectual disability
2002
Abstract Previous studies have suggested that performance in working memory (WM) tasks is deficient in all etiologies and at all levels of intellectual disability (ID). Knowledge about WM structure, cognitive processes reflected in WM tasks, or the long-term memory contribution to WM capacity in ID is, however, not satisfactory. In the present study, WM capacity, WM task requirements, as well as effects between WM, skills, knowledge base, and intelligence were explored in two groups with matched fluid intelligence: adult persons with ID and normally developing children aged 3–6 years. The ID Group performed equally well as the children in WM tasks based on familiar semantic information and …
Loss‐of‐function variants in ARHGEF9 are associated with an X‐linked intellectual disability dominant disorder
2021
ARHGEF9 defects lead to an X-linked intellectual disability disorder related to inhibitory synaptic dysfunction. This condition is more frequent in males, with a few affected females reported. Up to now, sequence variants and gross deletions have been identified in males, while only chromosomal aberrations have been reported in affected females who showed a skewed pattern of X-chromosome inactivation (XCI), suggesting an X-linked recessive (XLR) disorder. We report three novel loss-of-function (LoF) variants in ARHGEF9: A de novo synonymous variant affecting splicing (NM_015185.2: c.1056G>A, p.(Lys352=)) in one female; a nonsense variant in another female (c.865C>T, p.(Arg289*)), that is, a…
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
2019
AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca2+-impermeable, with a linear relationship between current and trans-membrane voltage. Here, we report heterozygous de novo GRIA2 mutations in 28 unrelated patients with intellectual disability (ID) and neurodevelopmental abnormalities including autism spectrum disorder (ASD), Rett syndrome-like features, and seizures or developmental epileptic encephalopathy (DEE). In functional expression studies, mutations lead to a dec…
Psychosocial adjustment of children with spina bifida.
1998
It was the aim of the present prospective study to investigate the influence of age, sex, intellectual function, and school type as well as of hydrocephalus, the level of lesion, and of the degree of handicap on the psychosocial adjustment of children with spina bifida. Seventy-five patients with spina bifida, aged 6 to 16 years were assessed concerning their psychosocial adjustment and their intellectual function by use of standardized instruments. The findings were compared with those of nondisabled controls, matched for age and sex. Children with spina bifida showed a tendency to be at an increased risk for psychosocial maladjustment. Influencing factors were age, sex, and the degree of…
Authorship in Facilitated Communication: An Analysis of 11 Cases
2014
Abstract. We studied the authorship of messages produced through facilitated communication (FC) for all users of FC in two comprehensive schools in a small city in Finland. The participants were 11 children with intellectual disabilities, including autism, all having used FC from 1 to 3 years. The test conditions involved open and blind information-passing tasks in which the participants were directed to write down the contents of written or pictorial stimuli. The results failed to validate FC as a method of communication for any participant or facilitator. An analysis of the messages produced under the FC condition revealed a large degree of facilitator influence on the content of the mess…
Students' academic and emotional adjustment during the transition from primary to secondary school
2019
The current study examined several indicators of students' academic and emotional adjustment during the transition from primary (i.e., grade 6) to secondary school (i.e., grades 7 and 9). Specifically, the study investigated how students' engagement, achievement, and burnout, as well as student-teacher conflict, evolve together over time. A total of 356 adolescents (57.3% boys) filled out questionnaires about their burnout and their behavioral and cognitive engagement. Students' achievement was measured using standardized test scores. Conflict in the teacher-student relationship was assessed using teacher ratings. Cross-lagged models revealed bi-directional associations between behavioral a…
The physical activity patterns of adolescents with intellectual disabilities: A descriptive study
2014
Abstract Background Emerging data suggest that adolescents with intellectual disabilities (IDs) have lower physical activity (PA) levels and have a higher incidence of obesity than their peers without IDs. Objective To examine daily PA patterns (weekdays vs. weekend days) of adolescents with IDs among boys and girls. The contributions of PA at school, including school recesses and physical education time, and PA outside of school were also analyzed. Methods Participants included forty-nine adolescents with mild to moderate IDs (mean 15.3 years) from the Valencia region (Spain). Adolescents wore a pedometer for seven consecutive days to measure PA objectively and filled in a daily activity l…
Familial insulin resistant diabetes associated with acanthosis nigricans, polycystic ovaries, hypogonadism, pigmentary retinopathy, labyrinthine deaf…
1993
Two sibs, whose parents are first cousins, had diabetes mellitus with hyperinsulinism, insensitive insulin receptors, and acanthosis nigricans. Both patients had pigmentary retinopathy, secondary cataracts, labyrinthine deafness, mental retardation, and cerebral atrophy. They were disproportionately short with relatively broad hands and feet and slightly coarse face. The young woman had secondary amenorrhea and polycystic ovaries and the boy gynecomastia and hypergonadotrophic hypogonadism. This appears to be the second family with a new autosomal recessive disorder differing from Alstrom syndrome by the presence of mental retardation and absence of renal insufficiency. Impaired insulin rec…
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…
Cognitive functioning in orthostatic hypotension due to pure autonomic failure.
2004
Psychophysiological science proposes close interactions between cognitive processes and autonomic responses, yet the consequences of autonomic failure on cognitive functioning have not been documented. This pilot study investigates, for the first time, the cognitive profile of 14 patients with Pure Autonomic Failure (PAF). Each patient was administered a comprehensive battery of neuropsychological tests and neuroimaging investigation. A number of patients (n = 6) presented with cognitive impairment. The two most frequent types of impairment were: deficits of speed and attention, and executive functioning. Impairments of free recall memory, intellectual functioning, nominal and calculation f…