Background: Lesbian, gay, bisexual, transgender, queer (LGBTQ) and gender diverse adults with intellectual disability experience exclusion within disability services.
Objective: This review explores the experiences of social inclusion/exclusion of this cohort in the context of disability services.
Search Method: A systematic search was conducted of peer-reviewed research published between January 2014 and April 2019. Five databases returned 66 articles plus three from hand searches.
Appraisal And Synthesis: Nine articles were included in this review. The Critical Appraisal Skills Programme tool was used to assess the quality of the research. NVivo 12 was used as a tool to organise the articles.
Results: Marginalisation of LGBTQ adults with intellectual disability in western societies is mirrored in disability organisations. There remains a dearth of research into experiences of transgender people with intellectual disability who use disability services.
Conclusions: Research into interventions that support the inclusion of this cohort in disability support services is needed.
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http://dx.doi.org/10.1111/jar.12925 | DOI Listing |
BMJ Case Rep
January 2025
Division of Neonatology, Kasturba Medical College Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.
We report a neonate evaluated for hepatomegaly during hospitalisation and was diagnosed to have hepatoblastoma, an uncommon childhood malignancy. The presence of dysmorphism, macrosomia and congenital heart defect led to the suspicion of congenital overgrowth conditions. The genetic evaluation revealed a pathogenic variant, conclusive of Simpson-Golabi-Behmel syndrome type 1 (SGBS1).
View Article and Find Full Text PDFBiol 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.
Aging 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 PDFJ Eval Clin Pract
February 2025
Pitești University Centre, National University of Science and Technology Politehnica Bucharest, Pitești, Romania.
This article identifies and offers a response to several problems that affect the quality of both clinical education and health care services. These matters are: that in clinical training and practice, health, as lived by patients (persons), is not properly considered, and is equated reductively with treating diseases/disorders; that health is seen through disease, and as restricted to a single model defined by an organism's meeting (or being returned to) biochemical or functional standards; that intellectual assumptions instilled in schools of Medicine and Psychology about realities pertaining to healthcare determine an understanding of chronic illness or life with chronic challenges focused on impairment and suffering, and not on the fuller experience of living with illness, disability or neuropsychological challenges that patients have as persons; that arts-based education reflects the same focus in understanding 'illness', and thus neglects giving attention to the creation of personal health states of those living with challenging or debilitating long-term conditions; that, consequently, the arts are instrumentalized to serve these predefined educational purposes, rather than allowed to inform clinical training through that which is intrinsic or more specific to them. As a way out of these limitations and as an illustration of how things could be done differently, Vincent Van Gogh's paintings of the Sunflowers are used as visual inspiration for how we could change the way we see, and construct new mental representations of 'health', 'chronic illness' or 'chronic challenges', 'patient as person' or even 'person as non-patient', 'the clinician's role' and 'the identity of clinical practice'.
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