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2501“…[Purpose] The aim of the study was to assess the effect of an 8-week balance exercise program for enhancement of gait function on temporal and spatial parameters of school aged children with intellectual disabilities. [Subjects] Forty young people with intellectual disabilities were assigned either to the balance exercise program for enhancement of gait function group (BG group, n=19) or the control group (n=21). …”
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2502por Caramaschi, Elisa, Stanghellini, Ilaria, Magini, Pamela, Giuffrida, Maria Grazia, Scullin, Silvia, Giuva, Tiziana, Bergonzini, Patrizia, Guerra, Azzurra, Paolucci, Paolo, Percesepe, Antonio“…BACKGROUND: Array comparative genomic hybridization (a-CGH) has become the first-tier investigation in patients with unexplained developmental delay/intellectual disability (DD/ID). Although the costs are progressively decreasing, a-CGH is still an expensive and labour-intensive technique: for this reason a definition of the categories of patients that can benefit the most of the analysis is needed. …”
Publicado 2014
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2503por Bredemeier, Juliana, Wagner, Gabriela Peretti, Agranonik, Marilyn, Perez, Tatiana Spalding, Fleck, Marcelo P“…This study sought to provide evidence of validity and reliability the Brazilian Portuguese version of WHOQOL-Dis-D (a cross-cultural, multicentre instrument developed by the WHOQOL-Group for the assessment of quality of life in persons with physical disability – PD) and WHOQOL-Dis-ID (for persons with intellectual disability – ID). METHODS: Classical psychometric methods were used to conduct independent analyses of the PD and ID samples. …”
Publicado 2014
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2504“…INTRODUCTION: Mothers of children with intellectual disability or autism spectrum disorder (ASD) have poorer health than other mothers. …”
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2505por Hu, Hao, Matter, Michelle L, Issa-Jahns, Lina, Jijiwa, Mayumi, Kraemer, Nadine, Musante, Luciana, de la Vega, Michelle, Ninnemann, Olaf, Schindler, Detlev, Damatova, Natalia, Eirich, Katharina, Sifringer, Marco, Schrötter, Sandra, Eickholt, Britta J, van den Heuvel, Lambert, Casamina, Chanel, Stoltenburg-Didinger, Gisela, Ropers, Hans-Hilger, Wienker, Thomas F, Hübner, Christoph, Kaindl, Angela M“…The two affected children suffer from intellectual disability, postnatal microcephaly, growth retardation, progressive ataxia, distal muscle weakness, peripheral demyelinating sensorimotor neuropathy, sensorineural deafness, exocrine pancreas insufficiency, hypothyroidism, and show signs of liver fibrosis. …”
Publicado 2014
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2506“…We identified 279 participants aged 16–49 (1.1% of the unweighted age-restricted sample) as having intellectual disability, and 22,927 as not having intellectual disability. …”
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2507“…This study drew on expectancy-value theory to assess (1) which intellectual and motivational factors in high school predict gender differences in career choices and (2) whether students’ motivational beliefs mediated the pathway of gender on STEM career via math achievement by using a national longitudinal sample in the United States. …”
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2508por Manzini, M. Chiara, Xiong, Lan, Shaheen, Ranad, Tambunan, Dimira E., Di Costanzo, Stefania, Mitisalis, Vanessa, Tischfield, David J., Cinquino, Antonella, Ghaziuddin, Mohammed, Christian, Mehtab, Jiang, Qin, Laurent, Sandra, Nanjiani, Zohair A., Rasheed, Saima, Hill, R. Sean, Lizarraga, Sofia B., Gleason, Danielle, Sabbagh, Diya, Salih, Mustafa A., Alkuraya, Fowzan S., Walsh, Christopher A.“…Autism spectrum disorder (ASD) and intellectual disability (ID) are often comorbid, but the extent to which they share common genetic causes remains controversial. …”
Publicado 2014
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2509por Mignogna, Maria Lidia, Giannandrea, Maila, Gurgone, Antonia, Fanelli, Francesca, Raimondi, Francesco, Mapelli, Lisa, Bassani, Silvia, Fang, Huaqiang, Van Anken, Eelco, Alessio, Massimo, Passafaro, Maria, Gatti, Silvia, Esteban, José A., Huganir, Richard, D’Adamo, Patrizia“…Mutations in the RAB39B gene cause intellectual disability comorbid with autism spectrum disorder and epilepsy, but the impact of RAB39B loss of function on synaptic activity is largely unexplained. …”
Publicado 2015
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2510por Alrayes, Nuha, Mohamoud, Hussein Sheikh Ali, Jelani, Musharraf, Ahmad, Saleem, Vadgama, Nirmal, Bakur, Khadijah, Simpson, Michael, Al-Aama, Jumana Yousuf, Nasir, JamalEnlace del recurso
Publicado 2015
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2511por Zhou, Shaohe, Shi, Zhangyan, Cui, Meng, Li, Junlin, Ma, Zhe, Shi, Yuanyu, Zheng, Zijian, Zhang, Fuchang, Jin, Tianbo, Geng, Tingting, Chen, Chao, Guo, Yale, Zhou, Jianping, Huang, Shaoping, Guo, Xingli, Gao, Lin, Gong, Pingyuan, Gao, Xiaocai, Zhang, Kejin“…Non-syndromic intellectual disability (NSID) is mental retardation in persons of normal physical appearance who have no recognisable features apart from obvious deficits in intellectual functioning and adaptive ability; however, its genetic etiology of most patients has remained unknown. …”
Publicado 2015
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2512por Charif, Majida, Roubertie, Agathe, Salime, Sara, Mamouni, Sonia, Goizet, Cyril, Hamel, Christian P., Lenaers, Guy“…Here, we identified a novel mutation c.1402C>T in AFG3L2, modifying the arginine 468 in cysteine in an evolutionary highly conserved arginine-finger motif, in a family with optic atrophy and mild intellectual disability. Ophthalmic examinations disclosed a loss of retinal nerve fibers on the temporal and nasal sides of the optic disk and a red–green dyschromatopsia. …”
Publicado 2015
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2513por Casey, Jillian P., Støve, Svein I., McGorrian, Catherine, Galvin, Joseph, Blenski, Marina, Dunne, Aimee, Ennis, Sean, Brett, Francesca, King, Mary D., Arnesen, Thomas, Lynch, Sally Ann“…We report two brothers from a non-consanguineous Irish family presenting with a novel syndrome characterised by intellectual disability, facial dysmorphism, scoliosis and long QT. …”
Publicado 2015
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2514por Kalscheuer, Vera M., James, Victoria M., Himelright, Miranda L., Long, Philip, Oegema, Renske, Jensen, Corinna, Bienek, Melanie, Hu, Hao, Haas, Stefan A., Topf, Maya, Hoogeboom, A. Jeannette M., Harvey, Kirsten, Walikonis, Randall, Harvey, Robert J.“…Disease gene discovery in neurodevelopmental disorders, including X-linked intellectual disability (XLID) has recently been accelerated by next-generation DNA sequencing approaches. …”
Publicado 2016
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2515por Lin, Chien-Yu, Chen, Chun-Yu, Yu, Chih-Hsiang, Yu, I-Shing, Lin, Shu-Rung, Wu, June-Tai, Lin, Ying-Hung, Kuo, Pao-Lin, Wu, Jui-Ching, Lin, Shu-Wha“…In this study, we demonstrate that an E3-ubiquitin ligase associated with human X-linked intellectual disability, CUL4B, plays a crucial role in post-meiotic sperm development. …”
Publicado 2016
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2516por Tuffrey-Wijne, I., Wicki, M., Heslop, P., McCarron, M., Todd, S., Oliver, D., de Veer, A., Ahlström, G., Schäper, S., Hynes, G., O’Farrell, J., Adler, J., Riese, F., Curfs, L.“…BACKGROUND: Empirical knowledge around palliative care provision and needs of people with intellectual disabilities is extremely limited, as is the availability of research resources, including expertise and funding. …”
Publicado 2016
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2517por Ozantürk, Ayşegül, Davis, Erica E., Sabo, Aniko, Weiss, Marjan M., Muzny, Donna, Dugan-Perez, Shannon, Sistermans, Erik A., Gibbs, Richard A., Özgül, Köksal R., Yalnızoglu, Dilek, Serdaroglu, Esra, Dursun, Ali, Katsanis, Nicholas“…Here, we report two male siblings with a dysmorphic face, ambiguous genitalia, intellectual disability, and speech delay. Through quad-based whole-exome sequencing and concomitant molecular cytogenetic testing, we identified two copy-number variants (CNVs) in both affected individuals likely arising from a balanced translocation: a 13.5-Mb duplication on Chromosome 16 (16q23.1 → 16qter) and a 7.7-Mb deletion on Chromosome 5 (5p15.31 → 5pter), as well as a hemizygous missense variant in CXorf36 (also known as DIA1R). …”
Publicado 2016
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2518por Maduro, Valerie, Pusey, Barbara N., Cherukuri, Praveen F., Atkins, Paul, du Souich, Christèle, Rupps, Rosemarie, Limbos, Marjolaine, Adams, David R., Bhatt, Samarth S., Eydoux, Patrice, Links, Amanda E., Lehman, Anna, Malicdan, May C., Mason, Christopher E., Morimoto, Marie, Mullikin, James C., Sear, Andrew, Van Karnebeek, Clara, Stankiewicz, Pawel, Gahl, William A., Toro, Camilo, Boerkoel, Cornelius F.“…To address the relationship between mutation of these transcripts and phenotype, we report a three-generation family segregating mild intellectual disability with a chromosomal translocation disrupting TCF4. …”
Publicado 2016
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2519“…BACKGROUND: There are arguments that a specialist service for adults with intellectual disabilities is needed to address the health inequalities that this group experiences. …”
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2520por Harris, Leanne, Melville, Craig, Jones, Nathalie, Pert, Carol, Boyle, Susan, Murray, Heather, Tobin, Janet, Gray, Fiona, Hankey, Catherine“…BACKGROUND: The prevalence of obesity in adults with intellectual disabilities has consistently been reported to be higher than the general population. …”
Publicado 2015
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