Search results for " Disability"
showing 10 items of 673 documents
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns
2021
Contains fulltext : 231688.pdf (Publisher’s version ) (Closed access) PURPOSE: Pathogenic variants in the X-linked gene NEXMIF (previously KIAA2022) are associated with intellectual disability (ID), autism spectrum disorder, and epilepsy. We aimed to delineate the female and male phenotypic spectrum of NEXMIF encephalopathy. METHODS: Through an international collaboration, we analyzed the phenotypes and genotypes of 87 patients with NEXMIF encephalopathy. RESULTS: Sixty-three females and 24 males (46 new patients) with NEXMIF encephalopathy were studied, with 30 novel variants. Phenotypic features included developmental delay/ID in 86/87 (99%), seizures in 71/86 (83%) and multiple comorbidi…
Kabuki make-up (Niikawa-Kuroki) syndrome: Clinical and radiological observations in two sicilian children
1991
The Authors describe two patients aged 5 and 8, a female and a male, affected by a condition of polymalformations known as Kabuki make-up or Niikawa-Kuroki syndrome, having a neonatal incidence of 1:32,000 in Japan. There are two hypothesis about the apparent rarity of the syndrome in the rest of the world, including the Asian Continent: the first is that it exists, but is infrequently recognized outside Japan and the second is that it is really more frequent in those parts of the world, where ethnic exchanges are uncommon, as it happens in Japan.
Diagnostic approach to microcephaly in childhood: a two-center study and review of the literature.
2014
Aim: The aim of this study was to assess the diagnostic approach to microcephaly in childhood and to identify the prevalence of the various underlying causes/disease entities. Method: We conducted a retrospective study on a cohort of 680 children with microcephaly (399 males, 281 females; mean age at presentation 7-8mo, range 1mo-5y) from patients presenting to Charité - University Medicine Berlin (n=474) and University Hospital Dresden (n=206). Patient discharge letters were searched electronically to identify cases of microcephaly, and then the medical records of these patients were used to analyze parameters for distribution. Results: The putative aetiology for microcephaly was ascertain…
ADHD symptoms and learning behaviors in children with ASD without intellectual disability. A mediation analysis of executive functions
2018
In spite of its importance for education, the relationship between learning behaviors (LB), attention deficit hyperactivity disorder symptoms (ADHD) and executive functioning (EF) in children with autism spectrum disorder (ASD) has hardly been explored. The first objective of the present study was to compare children with ASD without intellectual disability and children with typical development (TD) on ADHD symptoms and learning behaviors: Motivation/ competence, attitude toward learning, persistence on the task, and strategy/flexibility. The second objective was to analyze the mediator role of behavioral regulation and metacognition components of EF between ADHD symptoms and learning behav…
Oral health-related quality of life in complete denture wearers depending on their socio-demographic background, prosthetic-related factors and clini…
2012
Objectives: To investigate the differences in impact on oral health-related quality of life (OHRQoL) among complete denture wearers depending on their socio-demographic characteristics, prosthetic-related factors and oral status. Study Design: 51 patients aged 50-90 years treated, from 2005 to 2010, with at least one complete denture at the Department of Buccofacial Prostheses of the Complutense University (Madrid) were enrolled in this cross-sectional study. All of the participants answered the Oral Health Impact Profile (OHIP-14sp) questionnaire. The additive scoring method was used. The prevalence of impacts was calculated by using the occasional threshold (OHIP-14sp score≥2). Socio-demo…
Impact of xerostomia on the quality of life of patients submitted to head and neck radiotherapy
2019
Background The aim of the present work was to evaluate the impact of xerostomia on the quality of life of patients who underwent radiotherapy in the head and neck region. Material and Methods This was a cross-sectional, quantitative study. The sample comprised 40 patients whose xerostomia was classified through the xerostomia inventory and the quality of life evaluated through the oral health impact profile questionnaire (OHIP). Results The majority of participants were male (75%), mean age 58.7 years. According to the degree of severity of the xerostomia, the average score among the participants was 36 points, this being considered moderate xerostomia. A significant impact was observed, wi…
Oral health-related quality of life and clinical outcomes of immediately or delayed loaded implants in the rehabilitation of edentulous jaws: A retro…
2018
Background Patient-centered outcomes are being given great attention by the dental scientific community. The Oral Health Impact Profile -14 questionnaire (OHIP-14) has been introduced to address patients' success criteria when describing the impact of oral rehabilitations on quality of life (OHrQoL). Methods Thirty-five patients wearing a full-arch implant-prosthesis being in place between 4 and 6 years before this analysis were considered eligible and then enrolled in the present retrospective study. According to their prosthetic anamnesis, two groups were defined: delayed loading group (IL-group) and immediate loading group (IL-group). At the moment of analysis, clinical and radiographic …
The MITOS system predicts long-term survival in amyotrophic lateral sclerosis
2015
ObjectiveThe choice of adequate proxy for long-term survival, the ultimate outcome in randomised clinical trials (RCT) assessing disease-modifying treatments for amyotrophic lateral sclerosis (ALS), is a key issue. The intrinsic limitations of the ALS Functional Rating Scale-Revised (ALSFRS-R), including non-linearity, multidimensionality and floor-effect, have emerged and its usefulness argued. The ALS Milano-Torino staging (ALS-MITOS) system was proposed as a novel tool to measure the progression of ALS and overcome these limitations. This study was performed to validate the ALS-MITOS as a 6-month proxy of survival in 200 ALS patients followed up to 18 months.MethodsAnalyses were performe…
Reliability and Validity Study of the Finnish Adaptation of Scoliosis Research Society Questionnaire Version SRS-30
2017
Study design A prospective clinical study to test and adapt a Finnish version of the Scoliosis Research Society 30 (SRS-30) questionnaire. Objective The aim of this study was to perform cross-cultural adaptation and evaluate the validity of the adapted Finnish version of the SRS-30 questionnaire. Summary of background data The SRS-30 questionnaire has proved to be a valid instrument in evaluating health-related quality of life (HRQoL) in adolescent and adult population with spine deformities in the United States. Multinational availability requires cross-cultural and linguistic adaptation and validation of the instrument. Methods The SRS-30 was translated into Finnish using accepted methods…
Disability in moderate chronic obstructive pulmonary disease: Prevalence, burden and assessment-results from a real-life study
2014
<b><i>Background:</i></b> The role of disability and its association with patient-reported outcomes in the nonsevere forms of chronic obstructive pulmonary disease (COPD) has never been explored. <b><i>Objectives:</i></b> The aim of this study was to assess, in a cross-sectional real-life study, the prevalence and degree of disability in moderate COPD patients and to assess its association with health status, illness perception, risk of death and well-being. <b><i>Methods:</i></b> Moderate COPD outpatients attending scheduled visits were involved in a quantitative research program using a questionnaire-based data collec…