The sustainability of service provision continues to be a challenge in the field of intellectual disability due to changes in delivery as part of intermittent or ongoing lockdown requirements during the COVID-19 global pandemic. There are many facets to this that may have temporary or permanent impacts not only on the sector, but ultimately for service access and outcomes for people with intellectual disability themselves. This narrative literature review identifies both opportunities for, and impacts on, service providers across jurisdictions. These are explored in terms of the effects that suspension, adaptation, continuity or the cessation of service delivery have had, and those that are projected. Such impacts include, but are not limited to, changes in service access and delivery, employment roles and responsibilities, financial sustainability and the need to diversify the services and supports provided and how they are delivered. The relevance of these impacts for family carers and people with intellectual disability is also discussed. Nonetheless, there have also been opportunities which inform the shape of service delivery and pandemic planning into the future.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9115148 | PMC |
http://dx.doi.org/10.1111/jppi.12414 | 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.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!