Carr and Hollins highlighted the paucity of research on the menopause in women with intellectual disabilities and, 10 years on, this area still remains poorly researched. Work exploring the age of onset of the menopause has suggested that the menopause is earlier in this group of women, but studies exploring what women with intellectual disabilities understand and experience during the menopause are limited. In this study 15 women with mild to moderate intellectual disabilities were interviewed using a semi-structured interview on a one-to-one basis about their knowledge and understanding of the menopause. Findings revealed limited accessible information about the menopause and a paucity in the women's knowledge and understanding about the menopause. This suggests a need for more accessible information, in order to increase understanding and awareness of the menopause in these women.
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http://dx.doi.org/10.1177/1744629507086604 | DOI Listing |
J Med Genet
January 2025
Service de Génétique, Centre Hospitalier Régional Universitaire de Tours, Tours, France
Background: Aarskog-Scott syndrome (AAS) is a rare condition with multiple congenital anomalies, caused by hemizygote variants in the gene. Its description was based mostly on old case reports, in whom a molecular diagnosis was not always available, or on small series. The aim of this study was to better delineate the phenotype and the natural history of AAS and to provide clues for the diagnosis and the management of the patients.
View Article and Find Full Text PDFJ Intellect Disabil Res
January 2025
Institute of Public Health, School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.
Background: People with intellectual disabilities (IDs) require more vision care but encounter considerable challenges during eye examinations. Specialised clinics established specifically for people with IDs are generally limited. This study aims to evaluate primary family caregivers' willingness to pay (WTP) for specialised ophthalmology services designed for people with IDs.
View Article and Find Full Text PDFJ Appl Res Intellect Disabil
January 2025
College of Public Health Medical and Veterinary Sciences, James Cook University, Townsville, Australia.
Background: Sexual well-being significantly impacts the overall quality of life for individuals with and without intellectual disabilities. Notably, parents play a pivotal role in influencing their children's sexual development, and their attitudes towards this topic are shaped by Chinese sociocultural values.
Methods: This study employed Interpretative phenomenological analysis to explore the experiences and attitudes of five individuals with intellectual disabilities and seven parents/caregivers regarding the sexual needs of their adult offspring with intellectual disabilities.
Cancers (Basel)
December 2024
Department of Biology, Howard University, Washington, DC 20059, USA.
Somatic and genetic mutations in glutathione peroxidases (GPxs), including GPx7 and GPx8, have been linked to intellectual disability, microcephaly, and various tumors. GPx7 and GPx8 evolved the latest among the GPx enzymes and are present in the endoplasmic reticulum. Although lacking a glutathione binding domain, GPx7 and GPx8 possess peroxidase activity that helps the body respond to cellular stress.
View Article and Find Full Text PDFInt J Mol Sci
January 2025
Department of Molecular Biology and Genetics, Çanakkale Onsekiz Mart University, Çanakkale 17100, Turkey.
Fucosidosis is a rare lysosomal storage disease caused by α-L-fucosidase deficiency following a mutation in the gene. This enzyme is responsible for breaking down fucose-containing glycoproteins, glycolipids, and oligosaccharides within the lysosome. Mutations in result in either reduced enzyme activity or complete loss of function, leading to the accumulation of fucose-rich substrates in lysosomes.
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