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2341por Verhoeven, Willem, Egger, Jos, Kipp, Janneke, Verheul‐ aan de Wiel, Jiska, Ockeloen, Charlotte, Kleefstra, Tjitske, Pfundt, Rolph“…These syndromes are characterized by intellectual disability, seizures of any kind and symptoms from the autism spectrum. …”
Publicado 2019
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2342por Hiraide, Takuya, Hattori, Ayako, Ieda, Daisuke, Hori, Ikumi, Saitoh, Shinji, Nakashima, Mitsuko, Saitsu, Hirotomo“…Here, we report an individual with epilepsy with myoclonic absences, mild intellectual disabilities, language disorder, and autism spectrum disorder. …”
Publicado 2019
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2343por Bosco, Alessandro, Paulauskaite, Laura, Hall, Ian, Crabtree, Jason, Soni, Sujata, Biswas, Asit, Cooper, Vivien, Poppe, Michaela, King, Michael, Strydom, Andre, Crawford, Michael J., Hassiotis, Angela“…AIMS: To conduct a process evaluation of a national clinical trial investigating the impact of PBS-based staff training on the level of challenging behaviour in adults with intellectual disability. METHOD: The Medical Research Council guidance for process evaluation of complex interventions was followed. …”
Publicado 2019
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2344“…More specifically, factors such as intellectual property rights and international trade agreements can interact with EML inclusion, drug pricing, and accessibility. …”
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2345por Ivanov, Roman, Zamyatin, Vladimir, Klimenko, Alexandra, Matushkin, Yury, Savostyanov, Alexander, Lashin, Sergey“…Background: The study of the biological basis of anxiety, depression, and intellectual disabilities in humans is one of the most actual problems of modern neurophysiology. …”
Publicado 2019
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2346por Fang, Yu-Lian, Zhang, Rui-Ping, Wang, Yi-Zheng, Cao, Li-Rong, Zhang, Yu-Qin, Cai, Chun-Quan“…Intellectual disability (ID) is a non-specific phenotype present in a genetically heterogeneous group of disorders. …”
Publicado 2019
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2347por Khan, Kamal, Zech, Michael, Morgan, Angela T., Amor, David J., Skorvanek, Matej, Khan, Tahir N., Hildebrand, Michael S., Jackson, Victoria E., Scerri, Thomas S., Coleman, Matthew, Rigbye, Kristin A., Scheffer, Ingrid E., Bahlo, Melanie, Wagner, Matias, Lam, Daniel D., Berutti, Riccardo, Havránková, Petra, Fečíková, Anna, Strom, Tim M., Han, Vladimir, Dosekova, Petra, Gdovinova, Zuzana, Laccone, Franco, Jameel, Muhammad, Mooney, Marie R., Baig, Shahid M., Jech, Robert, Davis, Erica E., Katsanis, Nicholas, Winkelmann, Juliane“…We performed clinical comparisons across our cohort and noted consistent presence of intellectual disability and speech impairment; with variable manifestation of seizures, tremor and dystonia. …”
Publicado 2019
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2348“…Mutans genotypes with respect to caries activity among normal children and intellectually disabled children, which would enable the clinician to plan better strategies for early caries detection, management and prevention. …”
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2349“…BACKGROUND: Polypharmacy is common in people with intellectual disabilities. Using multiple medication may lead to unintended medication‐related problems (MRPs). …”
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2350“…BACKGROUND: Physical‐activity approaches for people with intellectual disabilities (ID) are more likely to be effective and sustainable if they also target direct support professionals' behaviour. …”
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2351por Qiao, Fengchang, Shao, Binbin, Wang, Chen, Wang, Yan, Zhou, Ran, Liu, Gang, Meng, Lulu, Hu, Ping, Xu, Zhengfeng“…Autosomal dominant mental retardation-7 (MRD7) is a rare anomaly, characterized by severe intellectual disability, feeding difficulties, behavior abnormalities, and distinctive facial features, including microcephaly, deep-set eyes, large simple ears, and a pointed or bulbous nasal tip. …”
Publicado 2019
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2352por Islam, Md. Deen, Kaplan, Warren A., Trachtenberg, Danielle, Thrasher, Rachel, Gallagher, Kevin P., Wirtz, Veronika J.“…BACKGROUND: We present a systematic review describing ex-ante and ex-post evaluations of the impacts of intellectual property provisions in trade treaties on access to medicine in low and middle income countries. …”
Publicado 2019
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2353por Darvish, Hossein, Azcona, Luis J., Tafakhori, Abbas, Mesias, Roxana, Ahmadifard, Azadeh, Sanchez, Elena, Habibi, Arman, Alehabib, Elham, Johari, Amir Hossein, Emamalizadeh, Babak, Jamali, Faezeh, Chapi, Marjan, Jamshidi, Javad, Kajiwara, Yuji, Paisán-Ruiz, Coro“…Intellectual disability (ID), which presents itself during childhood, belongs to a group of neurodevelopmental disorders (NDDs) that are clinically widely heterogeneous and highly heritable, often being caused by single gene defects. …”
Publicado 2020
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2354por Constantino, John N., Strom, Shae, Bunis, Michael, Nadler, Cy, Rodgers, Teresa, LePage, Julia, Cahalan, Connie, Stockreef, Amber, Evans, Lucas, Jones, Rachel, Wilson, Alyssa“…PURPOSE OF REVIEW: Although treatment algorithms and parameters for best practice are readily available for all major syndromes of psychiatric impairment, the occurrence of psychiatric syndromes in individuals with intellectual and developmental disability (IDD) invokes serious contextual challenges for interpretation of symptoms, diagnosis, and optimization of treatment, both for clinicians and for the service sectors in which care and support of individuals with IDD are delivered. …”
Publicado 2020
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2355por Urreizti, Roser, Lopez-Martin, Estrella, Martinez-Monseny, Antonio, Pujadas, Montse, Castilla-Vallmanya, Laura, Pérez-Jurado, Luis Alberto, Serrano, Mercedes, Natera-de Benito, Daniel, Martínez-Delgado, Beatriz, Posada-de-la-Paz, Manuel, Alonso, Javier, Marin-Reina, Purificación, O’Callaghan, Mar, Grinberg, Daniel, Bermejo-Sánchez, Eva, Balcells, Susanna“…BACKGROUND: Pathogenic variants of the lysine acetyltransferase 6A or KAT6A gene are associated with a newly identified neurodevelopmental disorder characterized mainly by intellectual disability of variable severity and speech delay, hypotonia, and heart and eye malformations. …”
Publicado 2020
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2356por Lin, Lianfeng, Lyu, Quanwei, Kwan, Pui-Yi, Zhao, Junjun, Fan, Ruolin, Chai, Anping, Lai, Cora Sau Wan, Chan, Ying-Shing, Shen, Xuting, Lai, Kwok-On“…Perturbation of synapse development underlies many inherited neurodevelopmental disorders including intellectual disability (ID). Diverse mutations on the human TBC1D24 gene are strongly associated with epilepsy and ID. …”
Publicado 2020
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2357“…BACKGROUND: Intellectual disability (ID) constitutes the most common group of neurodevelopmental disorders. …”
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2358por Ouss, Lisa, Palestra, Giuseppe, Saint-Georges, Catherine, Leitgel Gille, Marluce, Afshar, Mohamed, Pellerin, Hugues, Bailly, Kevin, Chetouani, Mohamed, Robel, Laurence, Golse, Bernard, Nabbout, Rima, Desguerre, Isabelle, Guergova-Kuras, Mariana, Cohen, David“…Then, we assessed whether multimodal social signals and interactional synchrony at 9 months could predict outcomes (autism spectrum disorder (ASD) and intellectual disability (ID)) of infants with WS at 4 years. …”
Publicado 2020
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2359por Aguilera-Albesa, Sergio, de la Hoz, Ana Belén, Ibarluzea, Nekane, Ordóñez-Castillo, Andrés R., Busto-Crespo, Olivia, Villate, Olatz, Ibiricu-Yanguas, María Asunción, Yoldi-Petri, María E., García de Gurtubay, Iñaki, Perez de Nanclares, Guiomar, Pereda, Arrate, Tejada, María Isabel“…We present a Spanish family with autosomal dominant HSP and intellectual disability (ID) in which we found a possible dual genetic diagnosis with incomplete penetrance and variable expressivity in the parents and three siblings: a heterozygous duplication of 15q11.2–q13.1 found by array CGH and a novel missense heterozygous change in REEP1 [c.73A>G; p.…”
Publicado 2020
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2360por Naseer, Muhammad Imran, Abdulkareem, Angham Abdulrahman, Guzmán-Vega, Francisco J., Arold, Stefan T., Pushparaj, Peter Natesan, Chaudhary, Adeel G., AlQahtani, Mohammad H.“…Intellectual developmental disorder with dysmorphic facies and ptosis is an autosomal dominant condition characterized by delayed psychomotor development, intellectual disability, delayed speech, and dysmorphic facial features, mostly ptosis. …”
Publicado 2020
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