Search results for "disabilities"
showing 10 items of 230 documents
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities
2021
International audience; The collapsin response mediator protein (CRMP) family proteins are intracellular mediators of neurotrophic factors regulating neurite structure/spine formation and are essential for dendrite patterning and directional axonal pathfinding during brain developmental processes. Among this family, CRMP5/DPYSL5 plays a significant role in neuronal migration, axonal guidance, dendrite outgrowth, and synapse formation by interacting with microtubules. Here, we report the identification of missense mutations in DPYSL5 in nine individuals with brain malformations, including corpus callosum agenesis and/or posterior fossa abnormalities, associated with variable degrees of intel…
Reading and math abilities of Finnish school beginners born very preterm or with very low birth weight
2017
Reading and math skills of preterm born (birth weight 1500 g or gestational age:532 weeks) children and full term (FT) children were compared during the first weeks of grade 1. The participants were 194 preterm born and 175 FT children born between 2001 and 2006. There were more precocious readers among FT than among preterm students, but even the latter performed close to the national norm. FT and preterm group differences among non-readers were minor with only rapid naming showing a robust difference. Math performance showed a stable difference in favor of FT students and the difference was sustained in the full-scale IQcontrol. Major brain pathology increased the likelihood of poor schol…
Demographic and Parental Factors Associated With Developmental Outcomes in Children With Intellectual Disabilities
2019
The aim of the study was to examine the relation between demographic variables, parental characteristics, and cognitive, language and motor skills development in children with intellectual disabilities (ID). A sample of 89 children with ID, aged 20 to 47 months, completed the Bayley Scales of Infant Development to measure cognitive, motor and linguistic development. Parents were administered questionnaires about demographic information and parental anxiety, depression, parental stress, conjugality and familial functioning. Parenting behaviors (affection, responsiveness, encouragement, and teaching) were observed using the Spanish version of PICCOLO (Parenting Interactions with Children: Che…
Symptomatic seizures in preterm newborns: A review on clinical features and prognosis
2018
Abstract Neonatal seizures are the most common neurological event in newborns, showing higher prevalence in preterm than in full-term infants. In the majority of cases they represent acute symptomatic phenomena, the main etiologies being intraventricular haemorrhage, hypoxic-ischemic encephalopathy, central nervous system infections and transient metabolic derangements. Current definition of neonatal seizures requires detection of paroxysmal EEG-changes, and in preterm newborns the incidence of electrographic-only seizures seems to be particularly high, further stressing the crucial role of electroencephalogram monitoring in this population. Imaging work-up includes an integration of serial…
Dialogue sur le handicap : réciprocité et altérité
2017
This dialogue is not one between a lecturer in philosophy (Pierre Ancet) questioning a person in a situation of physical dependency (Marcel Nuss), but a dialogue between two full-fledged authors. In this exchange the organic deficiency constitutes only the specific character of an individual’s experience, which is to be described without making it a pathology. Disability is considered in its organic, psychological and social dimension, as an incapacitating constraint, but also as a potential vector to discover nonstandard capacities. Among these capacities, the authors stress the consciousness of time and of the body, particularly unexpected as this consciousness is examined by an entirely …
Estudiantes universitarios en riesgo de exclusión social: una aproximación a una realidad social oculta
2017
La reciente recesión y la crisis económica en España han supuesto un duro impacto en las condiciones de vida de la población. En el presente estudio se profundiza en el impacto de la crisis sobre el acceso a los estudios superiores, así como en los comportamientos relacionados con la exclusión social que los estudiantes universitarios han realizado o serían capaces de realizar con el único propósito de costearse su educación. Para ello, 96 estudiantes contestaron voluntariamente una encuesta cuyo objetivo era evaluar su situación sociolaboral y detectar posibles situaciones de riesgo social. La mayor parte de participantes percibía su situación económica como media o baja a pesar de que muc…
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…
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.…