A 64-year-old man with moderate intellectual disability developed a large right breast carcinoma with lymph node metastases. Cancer treatment is often difficult in persons with intellectual disability. However, the patient could be treated according to the current protocols with surgery, chemotherapy, and radiotherapy. He is alive and in good health two years after discovery of his tumor. Although breast cancer is estimated as frequent in women with intellectual disability as it is in nondisabled women, our patient is the second man with intellectual disability reported with a breast carcinoma.
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http://dx.doi.org/10.1155/2013/968035 | DOI Listing |
Clin Epigenetics
January 2025
Faculty of Medicine of TUD Dresden University of Technology, Institute for Clinical Genetics, University Hospital Carl Gustav Carus at TUD Dresden University of Technology, Dresden, Germany.
Autosomal dominant CDK13-related disease is characterized by congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD). Heterozygous pathogenic variants, particularly missense variants in the kinase domain, have previously been described as disease causing. Using the determination of a methylation pattern and comparison with an established episignature, we reveal the first hypomorphic variant in the kinase domain of CDK13, leading to a never before described autosomal recessive form of CHDFIDD in a boy with characteristic features.
View Article and Find Full Text PDFRes Dev Disabil
January 2025
Institute for Community Inclusion (INICO), Spain; University of Salamanca, Spain.
Background: The number of people with intellectual and developmental disabilities (IDD) living in residential settings has not changed substantially in recent years in Spain. To change this situation the project "My House: A Life in the Community" aims to promote the transition of individuals with IDD and high support needs into community settings.
Aims: This paper deepens the understanding of the underlying mechanisms responsible for the changes observed in the process of deinstitutionalization.
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.
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