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821
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822por Mungkhetklang, Chantanee, Bavin, Edith L., Crewther, Sheila G., Goharpey, Nahal, Parsons, Carl“…Non-verbal test scores for 17 individuals with intellectual disability (ID) and 39 children with typical development (TD) of similar mental age were compared to determine the unique contribution of visual and verbal short-term memory (STM) and WM and the additional variance contributed by vocabulary scores. …”
Publicado 2016
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823por Pengelly, Reuben J, Greville-Heygate, Stephanie, Schmidt, Susanne, Seaby, Eleanor G, Jabalameli, M Reza, Mehta, Sarju G, Parker, Michael J, Goudie, David, Fagotto-Kaufmann, Christine, Mercer, Catherine, Debant, Anne, Ennis, Sarah, Baralle, Diana“…Additionally, we identify pathogenic de novo missense mutations in TRIO associated with the same consistent phenotype, intellectual disability, microcephaly and dysmorphism with striking digital features. …”
Publicado 2016
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824“…Existing sex education programmes have failed in involving people with intellectual disabilities in the development of these programmes. …”
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825por Tatton-Brown, Katrina, Loveday, Chey, Yost, Shawn, Clarke, Matthew, Ramsay, Emma, Zachariou, Anna, Elliott, Anna, Wylie, Harriet, Ardissone, Anna, Rittinger, Olaf, Stewart, Fiona, Temple, I. Karen, Cole, Trevor, Mahamdallie, Shazia, Seal, Sheila, Ruark, Elise, Rahman, Nazneen“…To explore the genetic architecture of human overgrowth syndromes and human growth control, we performed experimental and bioinformatic analyses of 710 individuals with overgrowth (height and/or head circumference ≥+2 SD) and intellectual disability (OGID). We identified a causal mutation in 1 of 14 genes in 50% (353/710). …”
Publicado 2017
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826por Ravindran, Ethiraj, Hu, Hao, Yuzwa, Scott A., Hernandez-Miranda, Luis R., Kraemer, Nadine, Ninnemann, Olaf, Musante, Luciana, Boltshauser, Eugen, Schindler, Detlev, Hübner, Angela, Reinecker, Hans-Christian, Ropers, Hans-Hilger, Birchmeier, Carmen, Miller, Freda D., Wienker, Thomas F., Hübner, Christoph, Kaindl, Angela M.“…We identified, by means of whole exome sequencing, a homozygous frameshift mutation in the ARHGEF2 as a cause of intellectual disability, a midbrain-hindbrain malformation, and mild microcephaly in a consanguineous pedigree of Kurdish-Turkish descent. …”
Publicado 2017
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827por Jensen, Karin B., Kirsch, Irving, Pontén, Moa, Rosén, Annelie, Yang, Kathy, Gollub, Randy L., des Portes, Vincent, Kaptchuk, Ted J., Curie, Aurore“…OBJECTIVE: To determine the placebo component of treatment responses in patients with intellectual disability (ID). METHODS: A statistical meta-analysis comparing bias-corrected effect sizes (Hedges g) of drug responses in open-label vs placebo-controlled clinical trials was performed, as these trial types represent different certainty of receiving genuine treatment (100% vs 50%). …”
Publicado 2017
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828“…AIMS AND OBJECTIVES: No reported data is available on the periodontal health and treatment needs of the intellectually disabled in Lebanon. To evaluate the periodontal condition and treatment needs of institutionalized intellectually disabled individuals in Lebanon. …”
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829por Xu, Gu-Feng, Zhou, Cheng-Liang, Xiong, Yi-Meng, Li, Jing-Yi, Yu, Tian-Tian, Tian, Shen, Lin, Xian-Hua, Liao, Yun, Lv, Yuan, Zhang, Fang-Hong, Liu, Zhi-Wei, Shi, Yin-Yin, Shen, Yan, Sha, Jin, Zhang, Dan, Zhu, Yi-Min, Sheng, Jian-Zhong, Huang, He-Feng“…Their intellectual ability was assessed according to the Revised Chinese Version of the Wechsler Intelligence Scale for Children (C-WISC). …”
Publicado 2017
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830por Wagner, Adam P., Croudace, Tim J., Bateman, Naomi, Pennington, Mark W., Prince, Elizabeth, Redley, Marcus, White, Simon R., Ring, Howard“…BACKGROUND: Intellectual disability (ID) is relatively common in people with epilepsy, with prevalence estimated to be around 25%. …”
Publicado 2017
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831por Wagnon, Jacy L., Barker, Bryan S., Ottolini, Matteo, Park, Young, Volkheimer, Alicia, Valdez, Purnima, Swinkels, Marielle E.M., Patel, Manoj K., Meisler, Miriam H.“…OBJECTIVE: To determine the functional effect of SCN8A missense mutations in 2 children with intellectual disability and developmental delay but no seizures. …”
Publicado 2017
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832por Brechet, Aline, Buchert, Rebecca, Schwenk, Jochen, Boudkkazi, Sami, Zolles, Gerd, Siquier-Pernet, Karine, Schaber, Irene, Bildl, Wolfgang, Saadi, Abdelkrim, Bole-Feysot, Christine, Nitschke, Patrick, Reis, Andre, Sticht, Heinrich, Al-Sanna’a, Nouriya, Rolfs, Arndt, Kulik, Akos, Schulte, Uwe, Colleaux, Laurence, Abou Jamra, Rami, Fakler, Bernd“…Bi-allelic mutations in the human FRRS1L gene are shown to cause severe intellectual disability with cognitive impairment, speech delay and epileptic activity. …”
Publicado 2017
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833“…NHS England recently published a national plan to develop community services for people with intellectual disabilities and autism who display challenging behaviour by using resources from the closure of a large number of hospital beds. …”
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834“…Studies with convenience samples have suggested that the lay public’s conception of intellectual property laws, including how the laws should regulate and why they should exist, are largely incommensurate with the actual intended purpose of intellectual property laws and their history in the United States. …”
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835
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836“…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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837Using Smartphones to Help People with Intellectual and Sensory Disabilities Perform Daily Activitiespor Lancioni, Giulio E., Singh, Nirbhay N., O’Reilly, Mark F., Sigafoos, Jeff, Alberti, Gloria, Zimbaro, Carmen, Chiariello, Valeria“…AIM: This study assessed a smartphone intervention, which was designed to help eight participants (four presenting with intellectual disability and blindness and four presenting with intellectual disability and hearing impairment) to independently start and carry out daily activities at appropriate times. …”
Publicado 2017
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838
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839por van Dongen, Linde C. M., Wingbermühle, Ellen, Oomens, Wouter, Bos-Roubos, Anja G., Ockeloen, Charlotte W., Kleefstra, Tjitske, Egger, Jos I. M.“…The core phenotype comprises developmental delay (DD)/ intellectual disability (ID) and several specific facial dysmorphisms. …”
Publicado 2017
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840por Mammen, Priya Mary, Asokan, Minju K., Russell, Sushila, Tsheringla, Sherab, Shankar, SatyaRaj, C. Nair, Muttathu K., Sudhakar Russell, Paul Swamidhas“…OBJECTIVE: Brief Intellectual Disability Scale (BIDS) is a measure validated for identification of children with intellectual disabilities (IDs) in countries with low disability resources. …”
Publicado 2018
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