This paper describes an innovative institution, Capacitación y Desarrollo Integral AC (CADI - Comprehensive Training and Development), created in Mexico to develop evidence-based interventions grounded in the principles of inclusion, independence, social and health equity that promote the well-being of persons with intellectual developmental disorder older than 14 years.
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http://dx.doi.org/10.1192/s2056474000001306 | DOI Listing |
J Cell Biol
April 2025
Department of Genetics and Cell Biology, College of Life Sciences, State Key Laboratory of Medicinal Chemical Biology, Nankai University, Tianjin, China.
TBC1D20 deficiency causes Warburg Micro Syndrome in humans, characterized by multiple eye abnormalities, severe intellectual disability, and abnormal sexual development, but the molecular mechanisms remain unknown. Here, we identify TBC1D20 as a novel Rab11 GTPase-activating protein that coordinates vesicle transport and actin remodeling to regulate ciliogenesis. Depletion of TBC1D20 promotes Rab11 vesicle accumulation and actin deconstruction around the centrosome, facilitating the initiation of ciliogenesis even in cycling cells.
View Article and Find Full Text PDFJ Rehabil Assist Technol Eng
January 2025
Department of Allied Health Sciences, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Introduction: Traditionally, augmentative and alternative communication (AAC) user interface development has been a time-intensive process requiring expertise in software development, often excluding people who use AAC. This paper demonstrates the involvement of an end user in the design and testing of prototype AAC user interfaces (UIs) developed using a platform called the Open Source Design and Programmer Interface (OS-DPI).
Methods: Micro-analysis of in-person conversation involving an adult with intellectual and developmental disabilities who uses AAC revealed several problems related to accessing his aided AAC device.
Behav Neurol
January 2025
Department of Pediatric Psychology, College of Medicine, Balcalı Hospital, Çukurova University, Adana, Turkey.
According to the International League Against Epilepsy (ILAE) 2015 classification, status epilepticus (SE) is a seizure that lasts longer than 5 min or a frequency of more than one seizure within 5 min, without returning to a normal level of consciousness between episodes. In this study, we aimed to evaluate the prognostic factors of SE and compare our patients with those of patients treated internationally with the modified status epilepticus severity score (mSTESS) to determine the reliability of this scoring system. The medical records of patients aged 1 month-17 years with SE who were treated at Çukurova University-Balcalı Training and Research Hospital between September 2018 and September 2021 and who were followed in the intensive care unit were included in the study.
View Article and Find Full Text PDFKnowledge 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 PDFRinsho Shinkeigaku
January 2025
Department of Neurology, The University of Tokyo Hospital.
The patient was a 33-year-old woman with no family history of a similar disorder. At one year of age, she exhibited scoliosis and respiratory failure, necessitating a tracheostomy performed at 5 years of age (1990s). During that time, the patient was provisionally diagnosed with "non-Fukuyama congenital muscular dystrophy" via muscle biopsy.
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