Search results for "Intellect"
showing 10 items of 642 documents
The quality of life in girls with Rett syndrome
2016
Nowadays, quality of life is receiving an increasing attention in all scientific areas. Rett syndrome (RTT) is a rare neurological development, affecting mainly females. The congenital disease affects the central nervous system, and is one of the most common causes of severe intellectual disability. The aim of our study is to evaluate the effect of RTT on the quality of life of people who are affected. Both parents of 18 subjects, all female, diagnosed with RTT, took part in the research. Quality of life was assessed using the Italian version of the Impact of Childhood Illness Scale. This scale consists of 30 questions that investigate the effect of illness on children, parents and families…
Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic Factors
2020
International audience; Purpose: Cohen syndrome (CS) is a rare genetic disorder caused by variants of the VPS13B gene. CS patients are affected with a severe form of retinal dystrophy, and in several cases cataracts also develop. The purpose of this study was to investigate the mechanisms and risk factors for cataract in CS, as well as to report on cataract surgeries in CS patients.Methods: To understand how VPS13B is associated with visual impairments in CS, we generated the Vps13b∆Ex3/∆Ex3 mouse model. Mice from 1 to 3 months of age were followed by ophthalmoscopy and slit-lamp examinations. Phenotypes were investigated by histology, immunohistochemistry, and western blot. Literature anal…
Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of…
2017
International audience; PurposeCongenital anomalies and intellectual disability (CA/ID) are a major diagnostic challenge in medical genetics—50% of patients still have no molecular diagnosis after a long and stressful diagnostic “odyssey.” Solo clinical whole-exome sequencing (WES) was applied in our genetics center to improve diagnosis in patients with CA/ID.MethodsThis retrospective study examined 416 consecutive tests performed over 3 years to demonstrate the effectiveness of periodically reanalyzing WES data. The raw data from each nonpositive test was reanalyzed at 12 months with the most recent pipeline and in the light of new data in the literature. The results of the reanalysis for …
Exploring the profiles of children with autism spectrum disorder: association with family factors.
2019
This study aimed to identify different profiles of children with autism spectrum disorder (ASD) without intellectual disability (ID) and maternal factors characteristic of these profiles. Participants were 89 children between 7 and 11 years old and their mothers, distributed in two groups, 52 children with ASD and 37 with typical development (TD). Based on the children’s adaptive, behavioral, and pragmatic manifestations, three clusters were obtained in the ASD group. Children with the most serious difficulties in all the domains assessed were assigned to Cluster 1, whereas the children in Cluster 3 were characterized by relatively minor problems. Cluster 2 comprised children with moderate …
Enhancing daily living skills in four adults with autism spectrum disorder through an embodied digital technology-mediated intervention
2019
Abstract Background The acquisition of daily living skills is fundamental in the education of people with Autism Spectrum Disorder (ASD), especially of those with Intellectual Disability (ID), because this can significantly contribute to their autonomy, self-confidence and overall life satisfaction. The purpose of this study was to assess the impact of an embodied Digital Technology (DT)-mediated intervention, compared to a Treatment-As-Usual (TAU) intervention, for enhancing two daily living skills: washing dishes and doing laundry. Method Four males of between 25 and 37 years old with ASD and ID participated in the study. The two interventions were based on audio and picture prompting ins…
Teaching Children with Intellectual Disabilities: Analysis of Research-Based Recommendations
2016
<p>The purpose of this qualitative study was to produce an overview of topics and practical recommendations that have been presented for teaching for students with intellectual disabilities in educational research articles published from 2000 to 2013. The sample of peer-reviewed research articles considering this topic was selected using a database search of the Educational Resources Information Center (ERIC). To represent the richness of this research area, the topic was purposely left broad, and the outline was made by focusing on the practical implications of research articles. These recommendations were identified, classified, synthesized, and evaluated. The implications for pract…
Internet and People with Intellectual Disability: A Bibliometric Analysis
2020
The use of the Internet by people with intellectual disabilities is an area of study that has captured the interest of scientists in recent years. The studies have focused on analyzing specific aspects such as usability, the activities carried out online, and Internet benefits and risks, among others. The reviews published on this matter have been of a narrative or systematic approach. The present study aimed to examine the academic output in the field of Internet and people with intellectual disability from a bibliometric perspective. A sample of 95 documents related to the topic was retrieved from the core collection of Web of Science (WoS) and analyzed using the bibliometrix R-Tool. Find…
Photovoice—Towards Engaging and Empowering People with Intellectual Disabilities in Innovation
2020
E-health and welfare technology offer new ways to support health and social care delivery. While initiatives are made to engage disadvantaged user groups in innovation, people with intellectual disabilities tend to be excluded from design activities. This is a concern as this group can benefit from the use of assistive technology. However, it can be time-consuming and challenging to involve end-users in the design of technology. This calls for processes that are creative, empowering and that facilitate user involvement. In this study, we report and reflect on the process of using photovoice to understand user needs and to empower participants with intellectual disability in an innovation pr…
The cholinergic system in Down's syndrome
2006
The cholinergic system is one of the most important modulatory neurotransmitter systems in the brain. Alterations of the transmission communicators are accompanied by reduction of the cortical activity, which is associated with a learning and memory deficit. Down's syndrome is a pathological condition characterized by a high number of abnormalities that involve the brain.The cholinergic system is involved in alterations of the neurological system such as severe learning difficulties.To explain these alterations, important results are obtained from studies about murine trisomy 16 (animal model of Down's syndrome).The results obtained provide useful elements in the improvement of knowledge ab…
Gross motor proficiency and intellectual functioning
2018
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 age=9.28). Gr…