Background: Older people with intellectual disabilities represent a new and neglected population in need of services, yet it may be problematic to include them in generic services without having a clear idea of how elderly people from the general population feel towards them. To the best of our knowledge, this topic has not been addressed quantitatively.
Method: Seventy-three participants over 63 years of age (23 females and 50 males) from the general population without an intellectual disability completed two valid measures: the CLAS-MR and the WHOQOL-OLD.
Results: Level of education and quality of life were positively associated with attitudes towards people with intellectual disabilities. Age was negatively associated with knowledge regarding intellectual disability.
Conclusions: When preparing for the inclusion of older people with intellectual disabilities in generic services, attention should be given to members' level of education, quality of life, and knowledge regarding intellectual disabilities. Sensitivity should be applied to potential tendencies to shelter people with intellectual disabilities.
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http://dx.doi.org/10.1111/jar.13037 | DOI Listing |
Epilepsia
January 2025
Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.
Objectives: Developmental and epileptic encephalopathies (DEEs) caused by pathogenic variants in SCN8A are associated with difficult-to-treat and early-onset seizures, developmental delay/intellectual disability, impaired quality of life, and increased risk of early mortality. High doses of sodium channel blockers are typically used to treat SCN8A-DEE caused by gain-of-function (GoF) variants. However, seizures are often drug resistant, and only a few patients achieve seizure freedom.
View Article and Find Full Text PDFActa Neurobiol Exp (Wars)
January 2025
Laboratory of Animal Models, Nencki Institute of Experimental Biology, Polish Academy of Sciences, Warsaw, Poland.
The phosphatase and tensin homolog deleted on chromosome 10 (PTEN) gene is a critical tumor suppressor that plays an essential role in the development and functionality of the central nervous system. Located on chromosome 10 in humans and chromosome 19 in mice, PTEN encodes a protein that regulates cellular processes such as division, proliferation, growth, and survival by antagonizing the PI3K‑Akt‑mTOR signaling pathway. In neurons, PTEN dephosphorylates phosphatidylinositol‑3,4,5‑trisphosphate (PIP3) to PIP2, thereby modulating key signaling cascades involved in neurogenesis, neuronal migration, and synaptic plasticity.
View Article and Find Full Text PDFActa Neurobiol Exp (Wars)
January 2025
Laboratory of Emotions Neurobiology, Nencki Institute of Experimental Biology, Polish Academy of Sciences, Warsaw, Poland.
Autism spectrum disorder (ASD) is among the most common neurodevelopmental conditions in humans. While public awareness of the challenges faced by individuals with autism is steadily increasing, the underlying causes of abnormalities observed in ASD remains incompletely understood. The autism spectrum is notably broad, with symptoms that can manifest in various forms and degrees of severity.
View Article and Find Full Text PDFAm J Ophthalmol Case Rep
March 2025
Govindram Seksaria Institute of Dacryology, L.V. Prasad Eye Institute, Hyderabad, India.
Purpose: To report an exceptionally rare instance of Endoscopic endonasal dacryocystectomy.
Observations: Dacryocystectomy (DCT), a procedure of surgical extirpation of the lacrimal sac is normally approached by an external route. However, an endoscopic endonasal approach DCT is rare and usually reserved in cases where intellectual disabilities of a patient become a restrictive factor in maintenance of a healthy external wound.
Am J Med Genet A
January 2025
Medical Genetics and Genomic Medicine-Department of Translational Medicine, School of Medical Sciences, Campinas, Brazil.
Myhre syndrome is a rare disorder caused by pathogenic gain-of-function variants in the SMAD4 gene. Most of the patients have had de novo variants. There are several instances of autosomal dominant inheritance, and penetrance appears to be complete.
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