Search results for " DISABILITY"
showing 10 items of 673 documents
Speech perception outcomes after cochlear implantation in prelingually deaf infants: The Western Sicily experience
2013
Objectives: To describe audiometric characteristics and speech perception performances of prelingually deaf Sicilian children after cochlear implantation; to identify the influence of cochlear implant (CI) user and family's characteristics on speech recognition and intelligibility outcomes. Methods: Twenty-eight infants with a congenital or acquired hearing impairment and implanted before the 3rd year of life were studied; all children suffered from bilateral sensorineural hearing loss (SNHL) with evidence of lack of hearing aids benefit and no evidence of intellectual disability. The study of the main characteristics associated with CI user and family's profile was performed with a clinica…
Epidemiology of Chronic Pain in the Latium Region, Italy. a Cross-sectional Study on the Clinical Characteristics of Patients Attending Pain Clinics
2019
In Italy, chronic pain affects more than a quarter of the population, whereas the average European prevalence is 21%. This high prevalence might be due to the high percentage of Italian people who do not receive treatment, even after the passing of law 38/2010 (the right to access pain management in Italy), which created a regional network for the diagnosis and treatment of noncancer chronic pain. Italian epidemiologic studies on chronic pain are scanty, and this observational, multicenter, cross-sectional study is the first to investigate the clinical characteristics of patients who attended the pain management clinics in the Latium Region, Italy, for the management of their noncancer chro…
Spinopelvic changes based on the simplified SRS-Schwab adult spinal deformity classification: relationships with disability and health-related qualit…
2018
Study design Cross-sectional, observational study. Objective To study the occurrence of sagittal malalignment, the adaptability of a simplified sagittal modifiers grading of the Scoliosis Research Society (SRS)-Schwab adult spinal deformity (ASD) classification, and the deformity-specific SRS questionnaire version 30 (SRS-30) in an unselected adult cohort with symptomatic degenerative spinal disorders. Summary of background data The sagittal modifiers of the SRS-Schwab ASD classification correlate with health-related quality of life (HRQoL) measures in patients with ASD. The deformities and disabilities caused by sagittal malalignment in patients with common degenerative spinal disorders of…
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disabilit…
2019
International audience; Purpose Lanosterol synthase (LSS) gene was initially described in families with extensive congenital cataracts. Recently, a study has highlighted LSS associated with hypotrichosis simplex. We expanded the phenotypic spectrum of LSS to a recessive neuroectodermal syndrome formerly named alopecia with mental retardation (APMR) syndrome. It is a rare autosomal recessive condition characterized by hypotrichosis and intellectual disability (ID) or developmental delay (DD), frequently associated with early-onset epilepsy and other dermatological features. Methods Through a multicenter international collaborative study, we identified LSS pathogenic variants in APMR individu…
Gross motor proficiency and intellectual functioning
2018
Abstract This cross-sectional study examines differences in gross motor proficiency as a function of different intellectual functioning profiles. Two motor areas have been investigated as being equally essential to gross motor functions in every-day life: locomotion and object control. It aims to compare gross motor skills endorsed by children with Down syndrome (DS), children with borderline intellectual functioning (BIF), and typically developing children (TDC). Group 1 was composed of 18 children with DS (chronological age = 8.22), group 2 was composed of 18 children with BIF (chronological age = 9.32), and group 3 was composed of 18 children with typical development (TD) (chronological …
Emotional awareness and cognitive performance in borderline intellectual functioning young adolescents
2019
According to DSM-5 and ICD-10, borderline intellectual functioning (BIF) should not be classified properly as a disorder. However, BIF people may present relevant problems of adaptive functioning in several areas of daily activities, and they seem to be more vulnerable to mental diseases. Young adolescence may be considered a particular period for emotional information processing. The "own and others' emotions" awareness can play a crucial role in many daily life situations, such as decision making, interpersonal relationships, and decoding of facial expressions. On this background, a BIF young adolescents group underwent a neuropsychological assessment including emotional and cognitive dom…
A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability
2015
Mutations in the KCNQ2 gene encoding for voltage-gated potassium channel subunits have been found in patients affected with early onset epilepsies with wide phenotypic heterogeneity, ranging from benign familial neonatal seizures (BFNS) to epileptic encephalopathy with cognitive impairment, drug resistance, and characteristic electroencephalography (EEG) and neuroradiologic features. By contrast, only few KCNQ3 mutations have been rarely described, mostly in patients with typical BFNS. We report clinical, genetic, and functional data from a family in which early onset epilepsy and neurocognitive deficits segregated with a novel mutation in KCNQ3 (c.989G>T; p.R330L). Electrophysiological stu…
Underemployment among mothers of children with intellectual disabilities
2018
Background Mothers with lifelong care responsibilities might involuntarily be non-employed or work part-time, both of which are defined as “underemployment.” This study aimed to investigate who these underemployed mothers are and what are the factors associated with such employment hardship when having a child with intellectual disability (ID). Method An interview survey was conducted in 2011 in two local authorities of Taiwan on 876 working-age mothers with a child with intellectual disability; 514 of them were working part-time/non-employed and chosen as participants of this study. Results The mothers with a younger child with intellectual disability, a higher level of education, a lower …
Global, regional, and national incidence, prevalence, and years lived with disability for 301 acute and chronic diseases and injuries in 188 countrie…
2015
Summary Background Up-to-date evidence about levels and trends in disease and injury incidence, prevalence, and years lived with disability (YLDs) is an essential input into global, regional, and national health policies. In the Global Burden of Disease Study 2013 (GBD 2013), we estimated these quantities for acute and chronic diseases and injuries for 188 countries between 1990 and 2013. Methods Estimates were calculated for disease and injury incidence, prevalence, and YLDs using GBD 2010 methods with some important refinements. Results for incidence of acute disorders and prevalence of chronic disorders are new additions to the analysis. Key improvements include expansion to the cause an…
Chronic diseases and objectively monitored physical activity profile among aged individuals – a cross-sectional twin cohort study
2019
Introduction: High physical activity (PA) at old age indicates good functional capacity enabling independent living. We investigated how different disease conditions are associated with measured PA indicators in old women and men, and whether they recognize this association. Materials and methods: This cross-sectional twin cohort study in Finland comprised 779 individuals (276 complete twin pairs, including 117 monozygotic pairs), who participated in hip-worn accelerometer monitoring of PA and responded to questions on diseases and mobility limitations at mean age of 73 (range 71 to 75). Results: Of the participants, 23.2% reported having a disease restricting mobility. With sex and age in …