Purpose Of Review: This review examines an eclectic selection of publications from the past 12 months under the broad heading of 'assessment in intellectual disability'. Being unable to cover all possible publications the authors have concentrated on the assessment of pain (in those with severe intellectual disability), psychopathology, risk assessment and offending, autism, preference and choice, and dementia.
Recent Findings: Research into assessment has generally taken the form of developing new instruments, or adapting existing ones, or comparing the performance of a range of scales in a certain area. Researchers are using increasingly sophisticated psychometric analyses and refining the nature and purpose of tools for a range of clinical purposes.
Summary: The result of recent effort in this area is better instruments, often developed by experienced researchers who have been working in their chosen area of speciality for some years. It has been a very worthwhile period of extension and consolidation.
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| http://dx.doi.org/10.1097/01.yco.0000179483.62391.12 | DOI Listing |
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Knowledge of the natural history of deficiency disorder (CDD) is limited to the results of cross-sectional analysis of largely pediatric cohorts. Assessment of outcomes in adulthood is critical for clinical decision-making and future precision medicine approaches but is challenging because of the diagnostic gap and duration of follow-up that would be required for prospective studies. We aimed to delineate the natural history retrospectively from adulthood.
View Article and Find Full Text PDFLongitudinal Symptom Burden and Pharmacologic Management of Catatonia in Autism With Intellectual Disability: An Observational Study.
Autism Res
January 2025
Department of Psychiatry, Harvard Medical School, Boston, Massachusetts, USA.
Catatonia is a highly morbid psychomotor and affective disorder, which can affect autistic individuals with and without intellectual disability. Catatonic symptoms are treatable with pharmacotherapy and electroconvulsive therapy, but the longitudinal effectiveness of these treatments in autistic individuals has not been described. We conducted a prospective observational cohort study of patients with autism and co-morbid catatonia who received outpatient care in a specialized outpatient clinic from July 1, 2021 to May 31, 2024.
View Article and Find Full Text PDFVEXAS, Chediak-Higashi syndrome and Danon disease: myeloid cell endo-lysosomal pathway dysfunction as a common denominator?
Cell Mol Biol Lett
January 2025
University Cote d'Azur, Inserm, C3M, Nice, France.
Vacuolization of hematopoietic precursors cells is a common future of several otherwise non-related clinical settings such as VEXAS, Chediak-Higashi syndrome and Danon disease. Although these disorders have a priori nothing to do with one other from a clinical point of view, all share abnormal vacuolization in different cell types including cells of the erythroid/myeloid lineage that is likely the consequence of moderate to drastic dysfunctions in the ubiquitin proteasome system and/or the endo-lysosomal pathway. Indeed, the genes affected in these three diseases UBA1, LYST or LAMP2 are known to be direct or indirect regulators of lysosome trafficking and function and/or of different modes of autophagy.
View Article and Find Full Text PDFBeyond disability: A scientometric review of quality of life in developmental disabilities.
Res Dev Disabil
January 2025
Department of Psychology and Cognitive Science, University of Trento, Rovereto, Italy. Electronic address:
Quality of Life (QoL) is a crucial concept that pertains to an individual's perception of their position in life. In the context of developmental disabilities, QoL is pivotal for improving evidence-based practices, providing support and organizing services for individuals, thereby enabling them to achieve their potential with dignity and equality. Despite its importance, QoL has often not been the primary focus in many studies on developmental disabilities and remains less developed compared to other research areas.
View Article and Find Full Text PDFUnlabelled: We investigated the impact of participation in post-secondary university education (PSE) on the academic knowledge of adult students with severe intellectual disability and extensive support needs (SIDESN) vs. a similar group of controls who did not participate in PSE. We also examined whether the PSE would result in a "near transfer" to basic crystallized (facts and information) and fluid (problems involving executive functions and working memory) cognitive abilities, the contribution of background characteristics and crystallized and fluid abilities to their academic knowledge, semantic fluency and temporal relations.
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