Search results for "PsyArXiv|Social and Behavioral Sciences|Social and Personality Psychology|Disability"
showing 10 items of 1093 documents
Familial ring (18) mosaicism in a 23-year-old young adult with 46,XY,r(18) (::p11→q21::)/46,XY karyotype, intellectual disability, motor retardation …
2010
We report on a 23-year-old man with craniofacial findings of the holoprosencephaly spectrum disorder (microcephaly, hypotelorism, depressed nasal bridge, single median maxillary central incisor), fusion of C2-C3 vertebrae, intellectual disability, and severe sleep apnea. Chromosome analysis of blood lymphocytes showed 75% ring (18) cells and 25% normal cells, karyotype mos 46,XY,r(18)(::p11→q21::)[75]/46,XY[25]. His mother was phenotypically normal except for a double ureter and bifid renal pelvis as in his son. She had a supernumerary ring (18) in 10% of blood lymphocytes, karyotype mos 47,XX,+r(18)(::p11→q21::)[10]/46,XX[90]. Familial ring (18) is a rare cytogenetic abnormality. This is t…
Measures of Physical Functioning Predict Self-Reported Performance in Self-Care, Mobility, and Domestic Life in Ambulatory Persons With Multiple Scle…
2007
Abstract Paltamaa J, Sarasoja T, Leskinen E, Wikstrom J, Malkia E. Measures of physical functioning predict self-reported performance in self-care, mobility, and domestic life in ambulatory persons with multiple sclerosis. Objective To determine the associations between clinically measured physical functioning variables and self-reported performance in mobility, self-care, and domestic life in ambulatory persons with multiple sclerosis (MS), using the International Classification of Functioning, Disability and Health (ICF) as a framework. Design Survey study. Setting Community setting in Finland. Participants A population-based sample of 120 ambulatory persons with MS (30 men, 90 women) wit…
Screen time among Spanish university students with disabilities: a self-organizing maps analysis
2019
Abstract Background:Screen time can play a significant role in the health and quality of life of people with disabilities.However, there is a lack of studies on this issue among people with disabilities, and even fewer in the universitysetting. Thus, the aim of our study was to explore the relationships between screen time, disability grade, bodymass index (BMI), physical activity and sociodemographic variables (gender and socioeconomic status) in universitystudents with different disabilities. Methods:A cross-sectional study was conducted on a sample of 1091 students with disabilities from 55 Spanishuniversities. Instruments used for data gathering were the Adolescent Sedentary Activity Qu…
Endocrine response after cervical manipulation and mobilization in people with chronic mechanical neck pain: a randomized controlled trial
2019
BACKGROUND: Most of the research on the effects of spinal manipulation on endocrine function has been done on healthy subjects and has yielded contradictory results. The potential role of cervical manual therapy intervention in order to induce changes in the endocrine system has not yet been investigated. AIM: The aim of this trial is to compare the effects on salivary cortisol levels and clinical outcomes of cervical manipulation versus cervical mobilization or sham manipulation in patients with chronic mechanical neck pain. DESIGN: Randomized controlled trial. SETTING: University of Alcala de Henares: outpatient (referrals from office workers). POPULATION: A total of 83 patients with chro…
Sequential grouping modulates the effect of non-simultaneous masking on auditory intensity resolution.
2012
The presence of non-simultaneous maskers can result in strong impairment in auditory intensity resolution relative to a condition without maskers, and causes a complex pattern of effects that is difficult to explain on the basis of peripheral processing. We suggest that the failure of selective attention to the target tones is a useful framework for understanding these effects. Two experiments tested the hypothesis that the sequential grouping of the targets and the maskers into separate auditory objects facilitates selective attention and therefore reduces the masker-induced impairment in intensity resolution. In Experiment 1, a condition favoring the processing of the maskers and the targ…
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.
2015
The dual-specificity tyrosine-phosphorylation-regulated kinase 1A (DYRK1A) gene, located on chromosome 21q22.13 within the Down syndrome critical region, has been implicated in syndromic intellectual disability associated with Down syndrome and autism. DYRK1A has a critical role in brain growth and development primarily by regulating cell proliferation, neurogenesis, neuronal plasticity and survival. Several patients have been reported with chromosome 21 aberrations such as partial monosomy, involving multiple genes including DYRK1A. In addition, seven other individuals have been described with chromosomal rearrangements, intragenic deletions or truncating mutations that disrupt specificall…
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 …
Relationship between Meditative Practice and Self-Reported Mindfulness: the MINDSENS Composite Index
2014
Mindfulness has been described as an inherent human capability that can be learned and trained, and its improvement has been associated with better health outcomes in both medicine and psychology. Although the role of practice is central to most mindfulness programs, practice-related improvements in mindfulness skills is not consistently reported and little is known about how the characteristics of meditative practice affect different components of mindfulness. the present study explores the role of practice parameters on self-reported mindfulness skills. A total of 670 voluntary participants with and without previous meditation experience (n = 384 and n = 286, respectively) responded to an…
NDST1 missense mutations in autosomal recessive intellectual disability.
2014
NDST1 was recently proposed as a candidate gene for autosomal recessive intellectual disability in two families. It encodes a bifunctional GlcNAc N-deacetylase/N-sulfotransferase with important functions in heparan sulfate biosynthesis. In mice, Ndst1 is crucial for embryonic development and homozygous null mutations are perinatally lethal. We now report on two additional unrelated families with homozygous missense NDST1 mutations. All mutations described to date predict the substitution of conserved amino acids in the sulfotransferase domain, and mutation modeling predicts drastic alterations in the local protein conformation. Comparing the four families, we noticed significant overlap in …
The latent nature of prolonged grief - A taxometric analysis: Results from a representative population sample
2017
Individuals suffering from prolonged grief disorder (PGD) show severe grief reactions after the death of a significant other, even beyond a period of grieving that is within a person's cultural and religious context. In addition to this core element, PGD can manifest in various ways. Symptoms may include persistent preoccupation, intense emotional pain, or impairment in important life domains. The symptoms, furthermore, have to be of culturally or religiously inappropriate extent or severity, taking into account different norms of grieving. PGD is discussed as a distinct diagnostic category in the revision of the International Classification of Diseases (ICD-11). Nosology of PGD has been hi…