People with intellectual disabilities (PwID) are frequently prescribed long-term antipsychotics for behaviours that challenge (BtC) despite the lack of proven effectiveness and the increased risks for side effects of these medications in this population. National and international good clinical practice guidelines recommend deprescribing antipsychotics for BtC, which is often not successful due to environmental and other factors. The involvement of all stakeholders, including PwID, is crucial for deprescribing. However, studies showed that PwID and/or their families are often not involved in decision-making regarding the (de)prescribing of antipsychotics despite their desire to get involved. Moreover, studies on the views of PwID regarding their experiences of withdrawing from antipsychotics are lacking. The aim of this study was to gain insight into the views of PwID by investigating their experiences of discontinuation of long-term prescribed antipsychotics for BtC. A qualitative study was set up. Seven experts by experience with mild intellectual disabilities were interviewed. After six interviews, data saturation was achieved. Interviews were transcribed verbatim. Using phenomenological analysis, themes on lived experiences were extracted. Each consecutive interview was analysed. The four main themes extracted from the interviews were the quality of treatment, knowledge and information about psychotropics and the process of withdrawal, support from the participants' environment and the coping style of the interviewees themselves.
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http://dx.doi.org/10.3390/ijerph192315637 | DOI Listing |
Biol Open
January 2025
Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Cell fate decisions during cortical development sculpt the identity of long-range connections that subserve complex behaviors. These decisions are largely dictated by mutually exclusive transcription factors, including CTIP2/Bcl11b for subcerebral projection neurons and BRN1/Pou3f3 for intra-telencephalic projection neurons. We have recently reported that the balance of cortical CTIP2-expressing neurons is altered in a mouse model of DDX3X syndrome, a female-biased neurodevelopmental disorder associated with intellectual disability, autism spectrum disorder, and significant motor challenges.
View Article and Find Full Text PDFEpileptic Disord
January 2025
Child Neurology and Psychiatry Unit, Dipartimento materno-infantile, Presidio Ospedaliero Santa Maria Nuova, AUSL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Mol Genet Genomic Med
February 2025
Department of Chemistry and Molecular Biology, Gothenburg University, Gothenburg, Sweden.
Background: SYNGAP1 encodes a Ras/Rap GTPase-activating protein that is predominantly expressed in the brain with the functional roles in regulating synaptic plasticity, spine morphogenesis, and cognition function. Pathogenic variants in SYNGAP1 have been associated with a spectrum of neurodevelopmental disorders characterized by developmental delays, intellectual disabilities, epilepsy, hypotonia, and the features of autism spectrum disorder. The aim of this study was to identify a novel SYNGAP1 gene variant linked to neurodevelopmental disorders and to evaluate the pathogenicity of the detected variant.
View Article and Find Full Text PDFAging Cell
January 2025
Molecular Biology and Genetics Unit, Transcription and Disease Laboratory, Jawaharlal Nehru Centre for Advanced Scientific Research, Bengaluru, India.
SYNGAP1 is a Ras GTPase-activating protein that plays a crucial role during brain development and in synaptic plasticity. Sporadic heterozygous mutations in SYNGAP1 affect social and emotional behaviour observed in intellectual disability (ID) and autism spectrum disorder (ASD). Although neurophysiological deficits have been extensively studied, the epigenetic landscape of SYNGAP1 mutation-mediated intellectual disability is unexplored.
View Article and Find Full Text PDFGerontologist
January 2025
Department of Gerontology, Donna M. and Robert J. Manning College of Nursing and Health Sciences, University of Massachusetts Boston, Boston, Massachusetts, USA.
Background And Objectives: Loneliness is a serious public health concern among the aging population. Not only is loneliness an unpleasant emotional experience, it is also associated with worse health, well-being, and even mortality. This is a particularly important issue among the population aging with intellectual and developmental disabilities, who are more likely to experience loneliness across the life course, and who - particularly if living in an intermediate care facility (ICF) or nursing facility - may lack social connections.
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