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2401por de Boer, Elke, Ockeloen, Charlotte W., Matalonga, Leslie, Horvath, Rita, Rodenburg, Richard J., Coenen, Marieke J. H., Janssen, Mirian, Henssen, Dylan, Gilissen, Christian, Steyaert, Wouter, Paramonov, Ida, Trimouille, Aurélien, Kleefstra, Tjitske, Verloes, Alain, Vissers, Lisenka E. L. M.“…The genetic etiology of intellectual disability remains elusive in almost half of all affected individuals. …”
Publicado 2021
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2402por Reddy, Shanivaram K., Jagnnathan, Aarti, Ashraf, Guddekoppa H., Kumar, Chennaveerachari Naveen, Thirthalli, Jagadisha, Banerjee, Ruma, Muralidhar, Daliboina“…BACKGROUND: Several government schemes exist for the welfare of families having children with intellectual and developmental disorders (IDDs) in India. …”
Publicado 2021
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2403por Kildahl, Arvid Nikolai, Bakken, Trine Lise, Matre, Espen Arnfinn Winther, Hellerud, Jane Margrethe Askeland, Engebretsen, Maria Hagen, Helverschou, Sissel Berge“…Introduction: Anxiety disorders are highly prevalent in individuals with autism spectrum disorder (ASD), but knowledge is limited regarding identification and treatment of these disorders in individuals with ASD and more severe levels of intellectual disability (ID). The current case study aims to explore and describe the inpatient, psychiatric assessment in an adolescent male with ASD, severe ID and self-injurious behaviour (SIB) who was diagnosed with a co-occurring anxiety disorder. …”
Publicado 2020
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2404“…The sample included 384 adults between the ages of 20 and 85 who had completed either a 4-year college degree or who scored in the above average, superior, or very superior range on a measure of intellectual functioning, the Crystallized Composite score. …”
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2405por Lebon, Sébastien, Quinodoz, Mathieu, Peter, Virginie G., Gengler, Carole, Blanchard, Gaëlle, Cina, Viviane, Campos-Xavier, Belinda, Rivolta, Carlo, Superti-Furga, Andrea“…KDM5B variants have been previously associated with moderate to severe developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), and dysmorphism in a few individuals, but the pathogenetic mechanisms are not clear yet as patients with both monoallelic and biallelic variants have been observed. …”
Publicado 2021
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2406por Young, Natalie, Asif, Maria, Jackson, Matthew, Fernández-Mayoralas, Daniel Martín, de la Peña, Mar Jimenez, Calleja-Pérez, Beatriz, Álvarez, Sara, Hunter-Featherstone, Eve, Noegel, Angelika A., Höhne, Wolfgang, Nürnberg, Peter, Obara, Boguslaw, Hussain, Muhammad Sajid, Karakesisoglou, Iakowos, Fernández-Jaén, Alberto“…Collectively, these data provide novel insights into the cardinal role of the nesprin-2 giant in neurodevelopment and suggest that the biallelic hypomorphic SYNE2 mutations may be a new cause of intellectual disability and ASD.…”
Publicado 2021
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2407por Opoku, Maxwell Peprah, Elhoweris, Hala, Jiya, Alex Nester, Ngoh, Nlem Anne-Paule, Nketsia, William, Kumi, Emmanuel Opoku, Torgbenu, Eric Lawer“…BACKGROUND: An intellectual disability (ID) is characterized by a deficit in the functional, cognitive, and adaptive skills required for independent living. …”
Publicado 2021
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2408“…OBJECTIVES: To capture the extent and nature of intellectual disability nursing publications in Ireland. …”
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2409por Da Silva, Jorge Diogo, Costa, Marta Daniela, Almeida, Bruno, Lopes, Fátima, Maciel, Patrícia, Teixeira-Castro, Andreia“…Here, we report a clinical case of a patient with a previously undiagnosed syndrome comprising severe global developmental delay, intellectual disability, and behavioral disorders (such as attention-deficit/hyperactivity disorder, autism spectrum disorder and recurrent bouts of aggressive behavior). …”
Publicado 2021
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2410por Tummers, Joep, Tobi, Hilde, Schalk, Bianca, Tekinerdogan, Bedir, Leusink, Geraline“…BACKGROUND: Care for people with an Intellectual Disability (ID) is complex: multiple health care professionals are involved and use different Health Information Systems (HISs) to store medical and daily care information on the same individuals. …”
Publicado 2021
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2411por Tamura, Norito, Sakai, Shota, Martorell, Loreto, Colomé, Roser, Mizuike, Aya, Goto, Asako, Ortigoza-Escobar, Juan Darío, Hanada, Kentaro“…Some forms of inherited intellectual disability (ID) have been associated with a serine-to-leucine substitution in the SRM (S132L mutation) and a glycine-to-arginine substitution outside the SRM (G243R mutation) in CERT; however, it is unclear if mutations outside the SRM disrupt the control of CERT functionality. …”
Publicado 2021
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2412“…BACKGROUND: Coronavirus disease 2019 (COVID-19) has had a disproportionate impact on people with intellectual disability (PwID). PwID are at higher risk of mental illness and receive psychotropic prescribing ‘off licence' also, to manage distress behaviour. …”
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2413por Waisbren, Susan, Burton, Barbara K., Feigenbaum, Annette, Konczal, Laura L., Lilienstein, Joshua, McCandless, Shawn E., Rowell, Richard, Sanchez-Valle, Amarilis, Whitehall, Kaleigh B., Longo, Nicola“…Sapropterin can reduce phenylalanine (Phe) levels in tetrahydrobiopterin (BH4)-responsive patients, potentially preventing the intellectual impairment caused by elevated Phe levels. …”
Publicado 2021
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2414“…This study aimed to develop a specific and valid Wechsler Intelligence Scale for Children-Fifth Edition (WISC-V) short-form to estimate intellectual functioning in this population. Eighty-four very preterm children (39 female; mean age = 6.50; SD: 0.06) were assessed with the WISC-V. …”
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2415por Liu, Yi, Lv, Yuqiang, Zarrei, Mehdi, Dong, Rui, Yang, Xiaomeng, Higginbotham, Edward J., Li, Yue, Zhao, Dongmei, Song, Fengling, Yang, Yali, Zhang, Haiyan, Wang, Ying, Scherer, Stephen W., Gai, Zhongtao“…To contribute more worldwide clinical genomics data, we investigated the genetic etiology of 410 Han Chinese patients with NDDs (151 with autism and 259 with unexplained intellectual disability (ID) and developmental delay (DD)) using CMA (Affymetrix) after G-banding karyotyping. …”
Publicado 2022
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2416por Mutch, Jennifer, Sheehan, Rory, Marston, Louise, Werbeloff, Nomi, Osborn, David, Hassiotis, Angela“…AIMS: To describe characteristics of adults with intellectual disability (ID) and/or autism spectrum disorder (ASD) accessing care in one mental health Trust. …”
Publicado 2021
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2417por McCarron, Mary, McCausland, Darren, Luus, Retha, Allen, Andrew, Sheerin, Fintan, Burke, Eilish, McGlinchy, Eimear, Flannery, Fidelma, McCallion, Philip“…Methods: Data from a supplemental COVID-19 survey from the Intellectual Disability Supplement to the Irish Longitudinal Study on Ageing (IDS-TILDA) (n=710) was used to assess outcomes from the first infection wave of COVID-19 among adults with intellectual disability aged 40+ years in Ireland. …”
Publicado 2021
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2418por Qayyum, Muhammad, Yu, Yuyuan, Tu, Tingting, Nizamani, Mir Muhammad, Ahmad, Afaq, Ali, Minhaj“…The causal relationship of all the variables depicted by path analysis matches the results of the system GMM model. Higher intellectual property protection provides each region with the opportunity to obtain economic benefits from innovation and then make a higher investment in R&D activities. …”
Publicado 2022
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2419“…Pharmaceutical companies in developing countries are heavily influenced by the Trade-Related Aspects of Intellectual Property Rights (TRIPS) agreement and economic liberalization rules. …”
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2420“…LINS1 mutations cause a rare recessive form of intellectual disability. So far, eight LINS1 mutations were reported in the literature. …”
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