Search results for "INTELLECTUAL DISABILITY"

Organizational performance focused on users' quality of life: The role of service climate and "contribution-to-others" wellbeing beliefs.

2017

The investigation of organizational factors as precursors of the quality of life (QoL) of service users in organizations for individuals with intellectual disability has been relatively neglected.With this in mind, this study tests the mediation of service climate between employee's "contribution-to-others" wellbeing beliefs (COWBs) and organizational performance focused on the QoL of individuals with intellectual disability. A total of 104 organizations participated in the study. Data were collected from 885 employees and 809 family members of individuals with intellectual disability. The results of the multilevel mediation model supported the hypotheses. When employees believe that their …

The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder

2022

De novo variants in QRICH1 (Glutamine-rich protein 1) has recently been reported in 11 individuals with intellectual disability. The function of QRICH1 is largely unknown but it is likely to play a key role in the unfolded response of endoplasmic reticulum (ER) stress through transcriptional control of proteostasis. In this study, we present 27 additional individuals and delineate the clinical and molecular spectrum of the individuals (n=38) with QRICH1 variants. The main clinical features were mild to moderate developmental delay/intellectual disability (71%), non-specific facial dysmorphism (92%) and hypotonia (39%). Additional findings included poor weight gain (29%), short stature (29%)…

Theory of Mind Profiles in Children With Autism Spectrum Disorder: Adaptive/Social Skills and Pragmatic Competence

2020

Theory of Mind (ToM) is one of the most relevant concepts in the field of social cognition, particularly in the case of Autism Spectrum Disorders (ASD). Literature showing that individuals with ASD display deficits in ToM is extensive and robust. However, some related issues deserve more research: the heterogeneous profile of ToM abilities in children with ASD and the association between different levels of ToM development and social, pragmatic, and adaptive behaviors in everyday life. The first objective of this study was to identify profiles of children with ASD without intellectual disability (ID), based on explicit and applied ToM knowledge, and compare these profiles with a group of ch…

Behavioral phenotype and autism spectrum disorders in Cornelia de Lange syndrome

2015

Cornelia de Lange syndrome (CdLS) is a congenital disorder characterized by distinctive facial features, growth retardation, limb abnormalities, intellectual disability, and behavioral problems. Cornelia de Lange syndrome is associated with abnormalities on chromosomes 5, 10 and X. Heterozygous point mutations in three genes (<em>NIPBL</em>, <em>SMC3</em> and <em>SMC1A</em>), are responsible for approximately 50-60% of CdLS cases. CdLS is characterized by autistic features, notably excessive repetitive behaviors and expressive language deficits. The prevalence of autism spectrum disorder (ASD) symptomatology is comparatively high in CdLS. However, the pro…

Array CGH defined interstitial deletion on chromosome 14: a new case

2009

Interstitial deletions of the long arm of chromosome 14 are relatively rare. We report a 8.5-year-old girl with dysmorphic facial features and mental retardation associated with a de novo interstitial deletion of chromosome 14. The comparison between our patient and all published patients is reviewed. The genetic investigations have allowed us to define the critical chromosomal region and to start an accurate follow-up.

Intronic Variant in CNTNAP2 Gene in a Boy With Remarkable Conduct Disorder, Minor Facial Features, Mild Intellectual Disability, and Seizures

2020

Introduction: Mutations in the contactin-associated protein-like 2 (CNTNAP2) gene (MIM#604569) encoding for CASPR2, a cell adhesion protein of the neurexin family, are known to be associated with autism, intellectual disability, and other neuropsychiatric disorders. A set of intronic deletions of CNTNAP2 gene has also been suggested to have a causative role in individuals with a wide phenotypic spectrum, including Pitt-Hopkins syndrome, cortical dysplasia–focal epilepsy syndrome, Tourette syndrome, language dysfunction, and abnormal behavioral manifestations. Case presentation: A 10-years-old boy was referred to the hospital with mild intellectual disability and language impairment. Moreove…

The Relationship between Gray Matter Quantitative MRI and Disability in Secondary Progressive Multiple Sclerosis

2016

Purpose: In secondary progressive Multiple Sclerosis (SPMS), global neurodegeneration as a driver of disability gains importance in comparison to focal inflammatory processes. However, clinical MRI does not visualize changes of tissue composition outside MS lesions. This quantitative MRI (qMRI) study investigated cortical and deep gray matter (GM) proton density (PD) values and T1 relaxation times to explore their potential to assess neuronal damage and its relationship to clinical disability in SPMS. Materials and Methods: 11 SPMS patients underwent quantitative T1 and PD mapping. Parameter values across the cerebral cortex and deep GM structures were compared with 11 healthy controls, and…

Autism spectrum disorder in Kabuki syndrome: clinical, diagnostic and rehabilitative aspects assessed through the presentation of three cases

2015

Kabuki syndrome (KS) (Kabuki make-up syndrome, Niikawa-Kuroki syndrome) is a rare genetic disorder first diagnosed in 1981. Kabuki make-up syndrome (KMS) is a multiple malformation/intellectual disability syndrome that was first described in Japan but is now reported in many other ethnic groups. KMS is characterized by multiple congenital abnormalities: craniofacial, skeletal, and dermatoglyphic abnormalities; intellectual disability; and short stature. Other findings may include: congenital heart defects, genitourinary anomalies, cleft lip and/or palate, gastrointestinal anomalies including anal atresia, ptosis and strabismus, and widely spaced teeth and hypodontia. The KS is associated wi…

Response letter. Effects of a vestibular physiotherapy protocol on adults with intellectual disability in the prevention of falls: A multi‐centre cli…

2019

Intervenciones para el aprendizaje de la lectura en alumnado con discapacidad inte-lectual: un estudio bibliográfico

2020

La lectura y la escritura son procesos básicos que favorecen el desarrollo integral del niño, del adolescente y del adulto en diversos ámbitos como el personal, el social y el educativo, y a lo largo de toda la vida. En este estudio se pretende analizar las investigaciones recientes para el desarrollo de la lectura en alumnado con discapacidad intelectual porque la lectura como habilidad básica dentro de la competencia comunicativa es la clave para el desarrollo de otros aprendizajes. Para ello, se realizó una revisión bibliográfica sobre las diferentes intervenciones centradas en el aprendizaje de la lectura. Se seleccionaron un total de 20 artículos científicos, extraídos de tres bases de…