Search results for " Disabilities"
showing 10 items of 208 documents
Phenotype associated with TAF2 biallelic mutations: a clinical description of four individuals and review of the literature
2021
International audience; Transcription factor IID is a multimeric protein complex that is essential for the initiation of transcription by RNA polymerase II. One of its critical components, the TATA-binding protein-associated factor 2, is encoded by the gene TAF2. Pathogenic variants of this gene have been shown to be responsible for the Mental retardation, autosomal recessive 40 syndrome. This syndrome is characterized by severe intellectual disability, postnatal microcephaly, pyramidal signs and thin corpus callosum. Until now, only three families have been reported separately. Here we report four individuals, from two unrelated families, who present with severe intellectual disability and…
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
2013
Agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and polymicrogyria (PMG) are severe congenital brain malformations with largely undiscovered causes. We conducted a large-scale chromosomal copy number variation (CNV) discovery effort in 255 ACC, 220 CBLH, and 147 PMG patients, and 2,349 controls. Compared to controls, significantly more ACC, but unexpectedly not CBLH or PMG patients, had rare genic CNVs over one megabase (p = 1.48×10−3; odds ratio [OR] = 3.19; 95% confidence interval [CI] = 1.89–5.39). Rare genic CNVs were those that impacted at least one gene in less than 1% of the combined population of patients and controls. Compared to controls, significantly more AC…
Associations between adverse childhood experiences and adversities later in life. Survey data from a high-risk Norwegian sample
2019
Abstract Background A history of childhood abuse and neglect (CAN) is associated with exposure to later negative life events. CAN at an early age, multiple cooccurring exposures (cumulative events), and a high severity and frequency of exposure have potential detrimental long-term effects. Objective The present study examines the relationship between the severity of CAN and the prevalence of school difficulties and hardship at school, adult adversity and mental health. Participants and Settings: Participants were recruited from in- and outpatient mental health or substance abuse treatment facilities, child protective services (CPS), and prisons (N = 809, age range = 13–66, mean age = 27.62,…
Evaluation of satisfaction among relatives of mentally disabled patients who were users of a dental care protocol under general anaesthesia.
2010
Objectives: In the field of action of disease associated with dependence the Third Health Plan of Castilla y Leon aims specifically at promoting the adjustment of health assistance to the needs of disabled people, according to their situation. Our objectives were: General: To know the satisfaction level among relatives or caregivers of people who were treated according to a protocol of dental care for mentally disabled people. Specific: To know if satisfaction is related to any sociodemographic characteristics of patients or to their pathology. Study design: Cross-sectional study by telephone survey, set in the Primary Health Area of Salamanca. The target population includes relatives or ca…
Barriers to physical activity in university students with disabilities: Differences by sociodemographic variables
2019
Abstract Background Despite the positive effects of regular physical activity (PA), university students with disabilities are less active than their able-bodied peers, which could be due to the wide range of barriers to PA that these individuals face across all social ecological levels. Objective To identify the barriers to PA experienced by university students with disabilities at the different social ecological levels and to examine the differences in these barriers by sociodemographic variables. Methods The reduced Spanish version of the Barriers to Physical Activity Questionnaire for People with Mobility Impairments was administered to a sample of 1219 Spanish university students with d…
Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light
2019
The expanding use of exome sequencing (ES) in diagnosis generates a huge amount of data, including untargeted mitochondrial DNA (mtDNA) sequences. We developed a strategy to deeply study ES data, focusing on the mtDNA genome on a large unspecific cohort to increase diagnostic yield. A targeted bioinformatics pipeline assembled mitochondrial genome from ES data to detect pathogenic mtDNA variants in parallel with the "in-house" nuclear exome pipeline. mtDNA data coming from off-target sequences (indirect sequencing) were extracted from the BAM files in 928 individuals with developmental and/or neurological anomalies. The mtDNA variants were filtered out based on database information, cohort …
Family-centered practices and the parental well-being of young children with disabilities and developmental delay.
2019
Abstract Background Research evidence from studies in North America on the relationships between family-centered practices, parents’ self-efficacy beliefs, parenting confidence and competence beliefs, and parents’ psychological well-being was used to confirm or disconfirm the same relationships in two studies in Spain. Aims The aim of Study 1 was to determine if results from studies in North America could be replicated in Spain and the aim of Study 2 was to determine if results from Study 1 could be replicated with a second sample of families in Spain. Methods and procedures A survey including the study measures was used to obtain data needed to evaluate the relationships among the variable…
Psychometric properties of the Spanish version of the family-centred practices scale for use with families of young children receiving early childhoo…
2018
Background Early childhood intervention (ECI) centres in Spain recently initiated a process of change towards the adoption of family-centred practices (FCPs). Knowledge about the extent to which practitioners' use FCPs is needed. The psychometric properties of the Spanish version of the FCPs scale were examined. Method A convenience sample of 105 families of children with developmental delays attending three different ECI centres in Spain completed the FCPs scale and provided information about the ECI centre characteristics and practices, caregiver self-efficacy beliefs, and family and child demographic information. Results The Spanish version of the FCP scale was found to be both reliable …
Late-Emerging and Resolving Dyslexia
2015
This study focuses on the stability of dyslexia status from Grade 2 to Grade 8 in four groups: (a) no dyslexia in either grade (no-dyslexia, n = 127); (b) no dyslexia in Grade 2 but dyslexia in Grade 8 (late-emerging, n = 18); (c) dyslexia in Grade 2 but not in Grade 8 (resolving, n = 15); and (d) dyslexia in both grades (persistent-dyslexia, n = 22). We examined group differences from age 3.5 to age 14 in (a) reading, vocabulary, phonology, letter knowledge, rapid naming, IQ, verbal memory; (b) familial and environmental risk and supportive factors; and (c) parental skills in reading, phonology, rapid naming, verbal memory, and vocabulary. Our findings showed group differences both in read…
Iodine intake from supplements and diet during pregnancy and child cognitive and motor development: the INMA Mother and Child Cohort Study
2017
BackgroundThe effect of mild-to-moderate maternal iodine deficiency on the neuropsychological development of their offspring is uncertain. We aimed to assess the association between iodine status during pregnancy and the cognitive and motor development of children at 4–5 years.MethodsWe conducted a prospective cohort study in four Spanish regions with recruitment of pregnant women between 2003 and 2008 and follow-up of their children up to 4–5 years (mean (SD)=4.8 (0.6)). Cognitive and motor function was assessed in 1803 children using the McCarthy Scales of Children’s Abilities. Dietary iodine and supplementation were measured through questionnaires twice during pregnancy. Urinary iodine c…