Search results for "ABILITIES"

Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant.

2021

Almost half of all individuals affected by intellectual disability (ID) remain undiagnosed. In the Solve-RD project, exome sequencing (ES) datasets from unresolved individuals with (syndromic) ID (n = 1,472 probands) are systematically reanalyzed, starting from raw sequencing files, followed by genome-wide variant calling and new data interpretation. This strategy led to the identification of a disease-causing de novo missense variant in TUBB3 in a girl with severe developmental delay, secondary microcephaly, brain imaging abnormalities, high hypermetropia, strabismus and short stature. Interestingly, the TUBB3 variant could only be identified through reanalysis of ES data using a genome-wi…

How Can Steering Committees Manage Change Through Dynamic Capabilities to Increase System Satisfaction?

2017

Development and psychometric properties of a self‐report instrument for the assessment of sexual behaviour and concerns of people with mild intellect…

2021

Background: This paper presents a description of the development and psychometric properties of a self-report instrument for the assessment of sexual behaviour and concerns of people with mild intellectual disabilities (SEBECOMID-S). Methods and procedures: The study included 281 people with mild intellectual disabilities. The psychometric properties were examined through exploratory factorial analysis, descriptive statistics, and reliability indices. Results: The exploratory factor analyses offered a structure with three factors: concern about the appropriateness of their sexual behaviour, sexual practices performed, and safe sex practices. The model presents an excellent fit (χ2 /df = 1.1…

Developmental pathways of children with and without familial risk for dyslexia during the first years of life.

2002

Comparisons of the developmental pathways of the first 5 years of life for children with (N = 107) and without (N = 93) familial risk for dyslexia observed in the Jyvaskyla Longitudinal study of Dyslexia are reviewed. The earliest differences between groups were found at the ages of a few days and at 6 months in brain event-related potential responses to speech sounds and in head-turn responses (at 6 months), conditioned to reflect categorical perception of speech stimuli. The development of vocalization and motor behavior, based on parental report of the time of reaching significant milestones, or the growth of vocabulary (using the MacArthur Communicative Development Inventories) failed t…

School readiness of moderately preterm children at preschool age

2012

The study investigates the preschool readiness of moderately preterm children and, in particular, the likely presence of learning disabilities at preschool age. Its theoretical model detects linguistic comprehension and expression; memory-related metacognition and cognition skills; orientation and motor coordination skills; premathematics and preliteracy ones. The research project involved an experimental group made up of 55 moderately preterm children (mean age = 62 months, mean gestational age = 34.6 weeks), without any clinical neonatal complications, and low birth weight (M = 2,100 g, SD = 350 g); a control group made up of 55 full-term children without pre- and perinatal complications.…

Tripled Fixed Point Results for T-Contractions on Abstract Metric Spaces

2014

In this paper we introduce the notion of T-contraction for tripled fi xed points in abstract metric spaces and obtain some tripled fi xed point theorems which extend and generalize well-known comparable results in the literature. To support our results, we present an example and an application to integral equations.

Geoethics and dimensions of vulnerability in Central Africa: the case study of the Democratic Republic of the Congo

2021

<abstract> <p>This article aims to analyse the dimensions of vulnerability in the complex territorial ecosystem of the Democratic Republic of the Congo, considering some substantial geoethical considerations and guidelines, usefull for the resolution of crisis situation. A thematic analysis was carried out on a gathering of secondary data and testimonies. Specifically, the paper will examine the modalities by which the mitigation process of the various vulnerabilities can be realized if implemented in synergy with some geoethical key points. This could contribute to the disaster risk reduction in DRC. Therefore, this paper will ascertain how the promotion of an environmental and…

Psychological inflexibility explains distress in parents whose children have chronic conditions

2018

Experiential avoidance, cognitive defusion, and mindfulness have all been associated with psychological disorders and well-being. This study investigates whether they predict psychological distress, i.e., symptoms of burnout, depression, stress and anxiety, in parents of children with chronic conditions. We hypothesized that these factors would exhibit a large degree of common variance, and that when compared to mindfulness and defusion, experiential avoidance on its own would predict a larger proportion of unique variance. 75 parents of children with chronic conditions having burnout symptoms who participated in an intervention study completed measures of burnout, stress, anxiety, depressi…

X-ray emitting MHD accretion shocks in classical T Tauri stars. Case for moderate to high plasma-beta values

2009

AIMS. We investigate the stability and dynamics of accretion shocks in CTTSs, considering the case of beta >= 1 in the post-shock region. In these cases the 1D approximation is not valid and a multi-dimensional MHD approach is necessary. METHODS. We model an accretion stream propagating through the atmosphere of a CTTS and impacting onto its chromosphere, by performing 2D axisymmetric MHD simulations. The model takes into account the stellar magnetic field, the gravity, the radiative cooling, and the thermal conduction (including the effects of heat flux saturation). RESULTS. The dynamics and stability of the accretion shock strongly depends on the plasma beta. In the case of shocks with…

Early development of children at familial risk for Dyslexia—follow-up from birth to school age

2004

We review the main findings of the Jyväskylä Longitudinal study of Dyslexia (JLD) which follows the development of children at familial risk for dyslexia (N = 107) and their controls (N = 93). We will illustrate the development of these two groups of children at ages from birth to school entry in the skill domains that have been connected to reading and reading disability in the prior literature. At school entry, the highest score on the decoding task among the poorer half (median) of the at risk children--i.e. of those presumably being most likely genetically affected--is 1 SD below the mean of the control group. Thus, the familial risk for dyslexia shows expected consequences. Among the e…