Background: This study explored the perspectives of people with intellectual disabilities on themes relevant to their job satisfaction in integrated and sheltered employment.
Method: The photovoice method was used. Nine participants with moderate to mild intellectual disabilities, working in integrated and sheltered employment, took pictures of aspects related to their job satisfaction. Each participant was subsequently interviewed about his/her pictures. Interview transcripts were content analysed to distinguish themes.
Results: Nine themes were found: the nature of the work itself, working conditions, experienced job demands, social relations at work, received support, perceived autonomy, opportunities for using competencies, opportunities for growth and development and meaningfulness. All themes were applicable in integrated and sheltered employment.
Conclusions: From the perspective of people with intellectual disabilities, various themes relate to their job satisfaction, either in positive or negative ways. Photovoice appeared to be a valuable approach, facilitating participants in expressing their views and providing in-depth information.
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http://dx.doi.org/10.1111/jar.12092 | DOI Listing |
MYT1L syndrome is a newly recognized disorder characterized by intellectual disability, speech and motor delay, neuroendocrine disruptions, ADHD, and autism. In order to study this gene and its association with these phenotypes, our lab recently created a heterozygous mutant mouse inspired by a clinically relevant mutation. This model recapitulates several of the physical and neurologic abnormalities seen in humans with MYT1L syndrome, such as weight gain, microcephaly, and behavioral disruptions.
View Article and Find Full Text PDFIt is well known that activation of NMDA receptors can trigger long-term synaptic depression (LTD) and that a morphological correlate of this functional plasticity is spine retraction and elimination. Recent studies have led to the surprising conclusion that NMDA-induced spine shrinkage proceeds independently of ion flux and requires the initiation of protein synthesis, highlighting an unappreciated contribution of mRNA translation to non-ionotropic NMDAR signaling. Here we used NMDA-induced spine shrinkage in slices of mouse hippocampus as a readout to investigate this novel modality of synaptic transmission.
View Article and Find Full Text PDFSYNGAP1 is a major regulator of synaptic plasticity through its interaction with synaptic scaffold proteins and modulation of Ras and Rap GTPase signaling pathways. mutations in humans are often associated with intellectual disability, epilepsy, and autism spectrum disorder. heterozygous loss-of-function results in impaired LTP, premature maturation of dendritic spines, learning disabilities and seizures in mice.
View Article and Find Full Text PDFFront Psychiatry
December 2024
Translational Genomic Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Background: Pathogenic variants in are associated with pyridoxine-dependent epilepsy (PDE), a rare autosomal recessive disorder characterized by epileptic seizures, unresponsiveness to standard antiseizure medications (ASM), and a response only to pyridoxine. Here, we report two patients (from a consanguineous family) with neonatal seizures and developmental delay.
Case Presentation: Patient 1 (a 13-year-old girl) was born normally at term.
J Cent Nerv Syst Dis
January 2025
CRCSEP, Université Nice Cote d'Azur, Nice, France.
Multiple sclerosis (MS) falls within the spectrum of central nervous system (CNS) demyelinating diseases that may lead to permanent neurological disability. Fundamental to the diagnosis and clinical surveillance is magnetic resonance imaging (MRI) that allows for the identification of T2-hyperintensities associated with autoimmune injury that demonstrate distinct spatial distribution patterns. Here, we describe the clinical experience of a 31-year-old, right-handed, White man seen in consultation at The University of Texas Southwestern Medical Center in Dallas, Texas, following complaints of headaches that began after head trauma related to military service.
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