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2321por Sheereen, Atia, Alaamery, Manal, Bawazeer, Shahad, Al Yafee, Yusra, Massadeh, Salam, Eyaid, Wafaa“…BACKGROUND: Autosomal-recessive non-syndromic intellectual disability (ARNS-ID) is an aetiologically heterogeneous disorder. …”
Publicado 2017
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2322por Bostwick, Bret L., McLean, Scott, Posey, Jennifer E., Streff, Haley E., Gripp, Karen W., Blesson, Alyssa, Powell-Hamilton, Nina, Tusi, Jessica, Stevenson, David A., Farrelly, Ellyn, Hudgins, Louanne, Yang, Yaping, Xia, Fan, Wang, Xia, Liu, Pengfei, Walkiewicz, Magdalena, McGuire, Marianne, Grange, Dorothy K., Andrews, Marisa V., Hummel, Marybeth, Madan-Khetarpal, Suneeta, Infante, Elena, Coban-Akdemir, Zeynep, Miszalski-Jamka, Karol, Jefferies, John L., Rosenfeld, Jill A., Emrick, Lisa, Nugent, Kimberly M., Lupski, James R., Belmont, John W., Lee, Brendan, Lalani, Seema R.Enlace del recurso
Publicado 2017
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2323por Blanchet, Patricia, Bebin, Martina, Bruet, Shaam, Cooper, Gregory M., Thompson, Michelle L., Duban-Bedu, Benedicte, Gerard, Benedicte, Piton, Amelie, Suckno, Sylvie, Deshpande, Charu, Clowes, Virginia, Vogt, Julie, Turnpenny, Peter, Williamson, Michael P., Alembik, Yves, Glasgow, Eric, McNeill, Alisdair“…Deletions at chromosome 2p25.3 are associated with a syndrome consisting of intellectual disability and obesity. The smallest region of overlap for deletions at 2p25.3 contains PXDN and MYT1L. …”
Publicado 2017
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2324“…Respiratory disorders are common among people with intellectual disabilities (ID). However, few studies have investigated these disorders among older people with ID. …”
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2325por Koemans, Tom S., Kleefstra, Tjitske, Chubak, Melissa C., Stone, Max H., Reijnders, Margot R. F., de Munnik, Sonja, Willemsen, Marjolein H., Fenckova, Michaela, Stumpel, Connie T. R. M., Bok, Levinus A., Sifuentes Saenz, Margarita, Byerly, Kyna A., Baughn, Linda B., Stegmann, Alexander P. A., Pfundt, Rolph, Zhou, Huiqing, van Bokhoven, Hans, Schenck, Annette, Kramer, Jamie M.“…Kleefstra syndrome, caused by haploinsufficiency of euchromatin histone methyltransferase 1 (EHMT1), is characterized by intellectual disability (ID), autism spectrum disorder (ASD), characteristic facial dysmorphisms, and other variable clinical features. …”
Publicado 2017
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2326“…BACKGROUND: Sweden has closed all institutions and imposed legislation to ensure service and support for individuals with intellectual disability (ID). Understanding mortality among older individuals with ID is essential to inform development of health promotion and disease control strategies. …”
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2327por Jahoda, Andrew, Hastings, Richard, Hatton, Chris, Cooper, Sally-Ann, Dagnan, Dave, Zhang, Ruiqi, McConnachie, Alex, McMeekin, Nicola, Appleton, Kim, Jones, Rob, Scott, Katie, Fulton, Lauren, Knight, Rosie, Knowles, Dawn, Williams, Chris, Briggs, Andrew, MacMahon, Ken, Lynn, Helen, Smith, Ian, Thomas, Gail, Melville, Craig“…BACKGROUND: Psychological therapies are first-line interventions for depression, but existing provision is not accessible for many adults with intellectual disabilities. We investigated the clinical and cost-effectiveness of a behavioural activation intervention (BeatIt) for people with intellectual disabilities and depression. …”
Publicado 2017
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2328por Kinnear, Deborah, Morrison, Jill, Allan, Linda, Henderson, Angela, Smiley, Elita, Cooper, Sally-Ann“…OBJECTIVES: To investigate the prevalence of multimorbidity in adults with intellectual disabilities with and without Down syndrome. …”
Publicado 2018
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2329por Tye, Charlotte, Thomas, Laura E., Sampson, Julian R., Lewis, Julia, O'Callaghan, Finbar, Yates, John R. W., Bolton, Patrick F.“…Epilepsy severity and epileptic spasms are consistent markers of risk for the development of intellectual impairment in TSC. Although previous studies demonstrate a bimodal distribution of intellectual ability in TSC, recent findings suggest a unimodal distribution, which may reflect a change in IQ distribution over time. …”
Publicado 2018
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2331por Sheth, Frenny, Liehr, Thomas, Shah, Viraj, Shah, Hillary, Tewari, Stuti, Solanki, Dhaval, Trivedi, Sunil, Sheth, Jayesh“…CASE PRESENTATION: An 11-year-old male was referred with developmental delay, intellectual disability and microcephaly. Physical examination revealed additionally short stature and multiple facial dysmorphisms. …”
Publicado 2018
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2332por Al-Hashmi, Nadia, Mohammed, Mohammed, Al-Kathir, Salim, Al-Yarubi, Naeema, Scott, Patrick“…The present study aimed to identify the gene mutation responsible for a complex phenotype comprising cerebellar ataxia and intellectual disability segregating in an Omani consanguineous family. …”
Publicado 2018
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2333“…BACKGROUND: Research suggests that registered nurses (RNs) do not feel adequately prepared to support patients with intellectual disability disorder (IDD). This is unsurprising, as few European health sciences curricula include undergraduate and graduate training courses in IDD. …”
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2334por Zech, Michael, Lam, Daniel D., Weber, Sandrina, Berutti, Riccardo, Poláková, Kamila, Havránková, Petra, Fečíková, Anna, Strom, Tim M., Růžička, Evžen, Jech, Robert, Winkelmann, Juliane“…Here, we describe an unusual neurodevelopmental phenotype, characterized by milestone delay, intellectual disability, autism, ataxia, and mixed hyperkinetic movement disorder including severe generalized dystonia, in a proband who remained etiologically undiagnosed despite exhaustive testing. …”
Publicado 2018
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2335por Alonso-Sardón, Montserrat, Iglesias-de-Sena, Helena, Fernández-Martín, Luz Celia, Mirón-Canelo, José Antonio“…BACKGROUND: The aim of this study was to assess the relation between perceived social support and personal autonomy of individuals with intellectual disabilities and Health-Related Quality of Life. …”
Publicado 2019
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2336“…It explains the adjustments that were made to provide good care for patients with intellectual and developmental disabilities in an acute care setting in Western Switzerland. …”
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2337“…Self-injurious behaviour is especially prevalent across the autism spectrum, but little is understood about the features and functions of self-injury for autistic individuals without intellectual disability, or about the risk factors that might be valuable for clinical usage in this group. …”
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2338por Yan, Huifang, Shi, Zhen, Wu, Ye, Xiao, Jiangxi, Gu, Qiang, Yang, Yanling, Li, Ming, Gao, Kai, Chen, Yinyin, Yang, Xiaoping, Ji, Haoran, Cao, Binbin, Duan, Ruoyu, Jiang, Yuwu, Wang, Jingmin“…BACKGROUND: Intellectual disability/developmental delay is a complex condition with extraordinary heterogeneity. …”
Publicado 2019
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2339por Bauer, Annette, Taggart, Laurence, Rasmussen, Jill, Hatton, Chris, Owen, Lesley, Knapp, Martin“…BACKGROUND: Whilst people with intellectual disability grow older, evidence has emerged internationally about the largely unmet health needs of this specific ageing population. …”
Publicado 2019
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2340“…OBJECTIVE: To investigate if therapeutic horseback riding (THR) can improve language and cognitive function in children with autism spectrum disorder (ASD) or intellectual disability (ID). METHODS: We conducted a prospective case-control study on children diagnosed with ASD or ID. …”
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