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2021“…The advent of next-generation sequencing for genetic diagnoses of complex developmental disorders, such as intellectual disability (ID), has facilitated the identification of hundreds of predisposing genetic variants. …”
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2022“…BACKGROUND: Obesity is more prevalent in adults with intellectual disabilities (ID) compared to the general population. …”
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2023por Hill, W.D., Davies, G., Liewald, D.C., Payton, A., McNeil, C.J., Whalley, L.J., Horan, M., Ollier, W., Starr, J.M., Pendleton, N., Hansel, N.K., Montgomery, G.W., Medland, S.E., Martin, N.G., Wright, M.J., Bates, T.C., Deary, I.J.“…Less clear is whether the very low range of cognitive ability (intellectual disability) is simply one end of the normal distribution describing individual differences in cognitive ability across a population. …”
Publicado 2016
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2024por Parker, Michael J., Fryer, Alan E., Shears, Deborah J., Lachlan, Katherine L., McKee, Shane A., Magee, Alex C., Mohammed, Shehla, Vasudevan, Pradeep C., Park, Soo‐Mi, Benoit, Valérie, Lederer, Damien, Maystadt, Isabelle, study, DDD, FitzPatrick, David R.“…De novo mutations (DNM) in SYNGAP1, encoding Ras/Rap GTPase‐activating protein SynGAP, have been reported in individuals with nonsyndromic intellectual disability (ID). We identified 10 previously unreported individuals with SYNGAP1 DNM; seven via the Deciphering Developmental Disorders (DDD) Study, one through clinical analysis for copy number variation and the remaining two (monozygotic twins) via a research multi‐gene panel analysis. …”
Publicado 2015
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2025“…Caregivers often manage the aggressive behavior of individuals with intellectual and developmental disabilities that reside in community group homes. …”
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2026
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2027
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2028“…[Conclusion] Obesity management is critically important for intellectually disabled persons residing in residential care facilities. …”
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2029por Fry, Andrew E., Rees, Elliott, Thompson, Rose, Mantripragada, Kiran, Blake, Penny, Jones, Glyn, Morgan, Sian, Jose, Sian, Mugalaasi, Hood, Archer, Hayley, McCann, Emma, Clarke, Angus, Taylor, Clare, Davies, Sally, Gibbon, Frances, Te Water Naude, Johann, Hartley, Louise, Thomas, Gareth, White, Catharine, Natarajan, Jaya, Thomas, Rhys H., Drew, Cheney, Chung, Seo-Kyung, Rees, Mark I., Holmans, Peter, Owen, Michael J., Kirov, George, Pilz, Daniela T., Kerr, Michael P.“…BACKGROUND: Copy number variants (CNVs) have been linked to neurodevelopmental disorders such as intellectual disability (ID), autism, epilepsy and psychiatric disease. …”
Publicado 2016
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2030A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disabilitypor Mosca-Boidron, Anne-Laure, Gueneau, Lucie, Huguet, Guillaume, Goldenberg, Alice, Henry, Céline, Gigot, Nadège, Pallesi-Pocachard, Emilie, Falace, Antonio, Duplomb, Laurence, Thevenon, Julien, Duffourd, Yannis, ST-Onge, Judith, Chambon, Pascal, Rivière, Jean-Baptiste, Thauvin-Robinet, Christel, Callier, Patrick, Marle, Nathalie, Payet, Muriel, Ragon, Clemence, Goubran Botros, Hany, Buratti, Julien, Calderari, Sophie, Dumas, Guillaume, Delorme, Richard, Lagarde, Nathalie, Pinoit, Jean-Michel, Rosier, Antoine, Masurel-Paulet, Alice, Cardoso, Carlos, Mugneret, Francine, Saugier-Veber, Pascale, Campion, Dominique, Faivre, Laurence, Bourgeron, Thomas“…We first identified a de novo translocation t(5;22)(p15.3;q11.21) in a patient with ASD and intellectual disability (ID). At the translocation breakpoint on chromosome 5, we observed a 861-kb deletion encompassing the end of the SEMA5A gene. …”
Publicado 2016
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2031“…To investigate the prevalence of intellectual disability (ID) and/or autism spectrum disorders (ASDs) in Western Australia (WA). …”
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2032por Martin, E Anne, Muralidhar, Shruti, Wang, Zhirong, Cervantes, Diégo Cordero, Basu, Raunak, Taylor, Matthew R, Hunter, Jennifer, Cutforth, Tyler, Wilke, Scott A, Ghosh, Anirvan, Williams, Megan EEnlace del recurso
Publicado 2016
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2033“…It is known that patients with severe motor and intellectual disabilities (SMID) showed sudden unexplained death (SUD), in which autopsy failed to identify causes of death. …”
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2034por Foley, Kitty-Rose, Taffe, John, Bourke, Jenny, Einfeld, Stewart L., Tonge, Bruce J., Trollor, Julian, Leonard, Helen“…BACKGROUND: Young people with intellectual disability exhibit substantial and persistent problem behaviours compared with their non-disabled peers. …”
Publicado 2016
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2035por Zhang, Shujie, Qin, Haisong, Wang, Jin, OuYang, Luping, Luo, Shiyu, Fu, Chunyun, Fan, Xin, Su, Jiasun, Chen, Rongyu, Xie, Bobo, Hu, Xuyun, Chen, Shaoke, Shen, Yiping“…Most clinical features of our patient were consistent with those previous reported for UPD(14)mat cases, which include prenatal and postnatal growth retardation, neonatal hypotonia, feeding difficulty, intellectual disability, truncal obesity, small hands and feet, short stature, and mild facial dysmorphism, but our patient showed more severe intellectual disability and no sign of precocious puberty. …”
Publicado 2016
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2036por Lin, Elizabeth, Balogh, Robert, McGarry, Caitlin, Selick, Avra, Dobranowski, Kristin, Wilton, Andrew S, Lunsky, Yona“…OBJECTIVES: Describe the prevalence of substance-related and addictive disorders (SRAD) in adults with intellectual and developmental disabilities (IDD) and compare the sociodemographic and clinical characteristics of adults with IDD and SRAD to those with IDD or SRAD only. …”
Publicado 2016
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2037por Dong, Hai-Yun, Zeng, Hui, Hu, Yi-Qiao, Xie, Li, Wang, Jian, Wang, Xiu-Ying, Yang, Yi-Feng, Tan, Zhi-Ping“…BACKGROUND: Overgrowth syndromes represent clinically and genetically heterogeneous conditions characterized by a wide spectrum of malformations, tall stature, intellectual disability and/or macrocephaly. RESULTS: In a cohort of four clinically characterized patients with overgrowth syndrome without known causative gene mutation, we performed an Illumina SNP-array analysis to identify the pathogenic copy number variations. …”
Publicado 2016
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2038por Buchert, Rebecca, Nesbitt, Addie I., Tawamie, Hasan, Krantz, Ian D., Medne, Livija, Helbig, Ingo, Matalon, Dena R., Reis, André, Santani, Avni, Sticht, Heinrich, Abou Jamra, Rami“…We examined an extended, consanguineous family with seven individuals with severe intellectual disability and microcephaly. Further symptoms were hearing loss, vision impairment, gastrointestinal disturbances, and slow and asymmetric waves in the EEG. …”
Publicado 2016
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2039por Trollor, Julian N., Ruffell, Beth, Tracy, Jane, Torr, Jennifer J., Durvasula, Seeta, Iacono, Teresa, Eagleson, Claire, Lennox, NicolasEnlace del recurso
Publicado 2016
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2040por Boschi, Aurélie, Planche, Pascale, Hemimou, Cherhazad, Demily, Caroline, Vaivre-Douret, Laurence“…Background: An increasing number of clinicians point to similar clinical features between some children with High Intellectual Potential (HIP or “Giftedness” = Total IQ > 2 SD), and children with Autism Spectrum Disorder (ASD) without intellectual or language delay, formerly diagnosed with Asperger Syndrome. …”
Publicado 2016
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