Search results for " Disability"
showing 10 items of 673 documents
Primary Microcephaly with Novel Variant of MCPH1 Gene in Twins: Both Manifesting in Childhood at the Same Time with Hashimoto's Thyroiditis
2020
AbstractThis study is a clinical report on twin females affected by primary microcephaly who displayed at molecular analysis of heterozygous novel MCPH1 variant. The twins at the age of 10 years developed, in coincidental time, a diagnosis of autoimmune juvenile thyroiditis. The main clinical features presented by the twins consisted of primary microcephaly with occipitofrontal circumference measuring −2 or −3 standard deviation, facial dysmorphism, typical nonsyndromic microcephaly, and mild intellectual disability. Molecular analysis of the major genes involved in primary microcephaly was performed and the following result was found in the twins: MCPH1; chr8.6357416; c.2180 C > T (rs 1…
Chromosome 15q BP4-BP5 Deletion in a Girl with Nocturnal Frontal Lobe Epilepsy, Migraine, Circumscribed Hypertrichosis, and Language Impairment
2020
The 15q13.3 microdeletion (microdel15q13.3) syndrome (OMIM 612001) has been reported in healthy subjects as well as in individuals with a wide spectrum of clinical manifestations ranging from mild to severe neurological disorders, including developmental delay/intellectual disability, autism spectrum disorder, schizophrenia, epilepsy, behavioral problems and speech dysfunction. This study explored the link between this genomic rearrangement and nocturnal frontal lobe epilepsy (NFLE), which could improve the clinical interpretation. A clinical and genomic investigation was carried out on an 8-year-girl with a de novo deletion flanking the breakpoints (BPs) 4 and 5 of 15q13.3 detected by arra…
Legge 5 febbraio 1992, n. 104. Punto di situazione degli enti della difesa. Limiti nell'applicazione e nei controlli
2020
The care of people with disability represents a primary objective related to the duties of assistance that the Constitution provides as tasks of the Republic and stated also by rules of international and European nature. Among the measures the system predisposes for the protection of disability, those tools are placed directed to let the civilian invalids’ families with a serious handicap to take care of them in case of need. Among these measures are particularly relevant the ones related to the approval for the family of disabled persons to rest from work aimed to protect the mental and physical health but also to the social integration of these subjects. The specificity of the military em…
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…
Heterogeneity at the HLA-DRB1 locus and risk for multiple sclerosis.
2006
Variation in major histocompatibility complex genes on chromosome 6p21.3, specifically the human leukocyte antigen HLA-DR2 or DRB1*1501-DQB1*0602 extended haplotype, confers risk for multiple sclerosis (MS). Previous studies of DRB1 variation and both MS susceptibility and phenotypic expression have lacked statistical power to detect modest genotypic influences, and have demonstrated conflicting results. Results derived from analyses of 1339 MS families indicate DRB1 variation influences MS susceptibility in a complex manner. DRB1*15 was strongly associated in families (P=7.8x10(-31)), and a dominant DRB1*15 dose effect was confirmed (OR=7.5, 95% CI=4.4-13.0, P<0.0001). A modest dose effect…
Visualization and User Interface Questions about Disability
1999
The visually impaired and the intellectually disabled are not equal groups but both groups benefit partly from the same features. Communication, symbols, pictures, customizing and alternative languages are the key elements in visualization and in user interface design to the both groups.
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…
A minireview about preterm birth and main specific neurodevelopmental disorders
2018
The preterm birth interrupts the physiological processes that allow the development of the Nervous System and of the body apparatus. Preterm children present a multi-organ dysfunction inversely proportional to the gestational age, leading to respiratory, cardiovascular, haematological, metabolic, infectious, and neurological problems.
Professionals' naming of intellectual disability, past and present practice and rationales
2011
The study illuminates four research questions: What terms for the diagnosis ICD10: F70-79 do Norwegian professionals utilize in their work? Which changes of terminology have professionals experienced? How do professionals explain such changes? Is there a substantive explanation? A semi-structured qualitative interview guide was used on a sample of 41 informants. The main findings are: (1) Different terms are in use; (2) two major changes in naming are observed by the informants: (a) during the 1970s from ‘feeble-minded’ to ‘mental developmental disability’, and (b) after year 2000 from ‘mental developmental disability’ to ‘developmental disability’; (3) professionals are in doubt as to whic…
Predictors of Participation and Autonomy in People With Multiple Sclerosis.
2019
Abstract Importance: Because multiple sclerosis (MS) affects many life areas, it is important to know how participation and autonomy are associated with the perceived impact of MS on everyday life. Objective: To investigate how perceived quality of life, disease impact, gender, and disease severity predict participation and autonomy in people with MS. Design: Cross-sectional study in which structural equation modeling was used to evaluate relationships between measured variables. Settings: Outpatient clinics in three areas and one inpatient rehabilitation center in Finland. Participants: Convenience sample of 194 people with MS. Outcomes and Measures: Participants completed the Impact on Pa…