Spirituality and spiritual support for older people with intellectual disability are deemed important, however little is known about their specific needs. This paper reports for the first time on the religious and spiritual practices of older adults with intellectual disability. A national longitudinal study examined the prevalence of spiritual practices among older people with intellectual disability in the Republic of Ireland. Older people with intellectual disability seek and receive solace from religious and spiritual practices, especially if they are lonely, in poor health, distressed or bereaved. There is likely a social benefit to spiritual and religious aspects of life that would be beneficial to explore further. Globally more research is required and efforts should be made to ensure greater opportunities for inclusion in societal spiritual and religious activities and to more clearly determine the spiritual needs of this population.
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http://dx.doi.org/10.1177/17446295231163977 | DOI Listing |
J Clin Invest
January 2025
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
ATP-dependent chromatin remodeling protein ATRX is an essential regulator involved in maintenance of DNA structure and chromatin state and regulation of gene expression during development. ATRX was originally identified as the monogenic cause of X-linked α-thalassemia mental retardation (ATR-X) syndrome. Affected individuals display a variety of developmental abnormalities and skeletal deformities.
View Article and Find Full Text PDFAm J Occup Ther
January 2025
Henry C. Hrdlicka, PhD, is Director of Research, Milne Institute for Healthcare Innovation, Gaylord Specialty Healthcare, Wallingford, CT;
Importance: No single cognitive screen adequately captures the cognitive domains needed for inpatient occupational therapy treatment planning.
Objective: To assess the construct validity of the Gaylord Occupational Therapy Cognitive (GOT-Cog©) screen, a novel comprehensive cognitive screen that evaluates functional cognition.
Design: Randomized crossover controlled study design using the St.
Nature
January 2025
Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.
Cerebral cortex development in humans is a highly complex and orchestrated process that is under tight genetic regulation. Rare mutations that alter gene expression or function can disrupt the structure of the cerebral cortex, resulting in a range of neurological conditions. Lissencephaly ('smooth brain') spectrum disorders comprise a group of rare, genetically heterogeneous congenital brain malformations commonly associated with epilepsy and intellectual disability.
View Article and Find Full Text PDFMol Genet Metab
December 2024
Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, United States of America.
Free sialic acid storage disorder (FSASD) is a rare autosomal recessive lysosomal storage disease caused by pathogenic SLC17A5 variants with variable disease severity. We performed a multidisciplinary evaluation of an adolescent female with suspected lysosomal storage disease and conducted comprehensive studies to uncover the molecular etiology. The proband exhibited intellectual disability, a storage disease gestalt, and mildly elevated urine free sialic acid levels.
View Article and Find Full Text PDFFront Pediatr
December 2024
Pediatric Clinic and Rare Diseases, Microcitemico Hospital "A. Cao", University of Cagliari, Cagliari, Italy.
Background: Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome, is a rare genetic disorder, caused by mutations in the ATRX gene. Clinical manifestations include typical facial dysmorphisms, mild-to-severe intellectual disability, hypotonia, genital anomalies, significant gastrointestinal (GI) complications, such as abdominal distension, chronic constipation, feeding difficulties, gastroesophageal reflux, and mild-to-moderate anemia secondary to alpha-thalassemia.
Case Presentation: We report a patient with ATR-X syndrome suffering from gastrointestinal dysmotility and highlight the beneficial effects of pyridostigmine.
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