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2721por Paganini, Leda, Hadi, Loubna A., Chetta, Massimiliano, Rovina, Davide, Fontana, Laura, Colapietro, Patrizia, Bonaparte, Eleonora, Pezzani, Lidia, Marchisio, Paola, Tabano, Silvia M., Costanza, Jole, Sirchia, Silvia M., Riboni, Laura, Milani, Donatella, Miozzo, Monica“…X‐linked intellectual disability (XLID) refers to a clinically and genetically heterogeneous neurodevelopmental disorder, in which males are more heavily affected than females. …”
Publicado 2018
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2722por Singh, Nirbhay N., Lancioni, Giulio E., Karazsia, Bryan T., Myers, Rachel E., Hwang, Yoon-Suk, Anālayo, Bhikkhu“…Parenting a child with autism spectrum disorder (ASD) or intellectual disabilities (IDs) can be stressful for many parents. …”
Publicado 2019
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2723“…To investigate how having a child without a disability is related to maternal mental health and its predictors, we compared mothers of a single child with intellectual disabilities (single-child group, n = 117) and mothers of children with and without intellectual disabilities (multiple-children group, n = 457), in Japan. …”
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2724por Wayhelova, Marketa, Smetana, Jan, Vallova, Vladimira, Hladilkova, Eva, Filkova, Hana, Hanakova, Marta, Vilemova, Marcela, Nikolova, Petra, Gromesova, Barbora, Gaillyova, Renata, Kuglik, Petr“…BACKGROUND: Chromosomal microarray analysis has been shown to be a valuable and cost effective assay for elucidating copy number variants (CNVs) in children with intellectual disability and developmental delay (ID/DD). …”
Publicado 2019
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2725por Yuki, ODA, FURUTANI, Chiaki, MIZOTA, Yuika, WAKITA, Atsuko, MIMURA, Sumiyo, KIHARA, Takuya, OHARA, Masaru, OKADA, Yoshiyuki, OKADA, Mitsugi, NIKAWA, Hiroki“…Studies on the oral health of individuals with intellectual disability (ID) have identified problems that include a high prevalence of periodontal disease. …”
Publicado 2019
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2726por Nováková, Monika, Hampl, Marek, Vrábel, Dávid, Procházka, Jan, Petrezselyová, Silvia, Procházková, Michaela, Sedláček, Radislav, Kavková, Michaela, Zikmund, Tomáš, Kaiser, Jozef, Juan, Hsien-Chia, Fann, Ming-Ji, Buchtová, Marcela, Kohoutek, Jiří“…Congenital heart defects, dysmorphic facial features and intellectual developmental disorders (CHDFIDD) syndrome in humans was recently associated with mutation in CDK13 gene. …”
Publicado 2019
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2727por Lauritano, Anna, Moutton, Sebastien, Longobardi, Elena, Tran Mau‐Them, Frédéric, Laudati, Giusy, Nappi, Piera, Soldovieri, Maria Virginia, Ambrosino, Paolo, Cataldi, Mauro, Jouan, Thibaud, Lehalle, Daphné, Maurey, Hélène, Philippe, Christophe, Miceli, Francesco, Vitobello, Antonio, Taglialatela, Maurizio“…The aim of this work was to report the clinical, molecular, and functional properties of a new KCNQ3 variant found in homozygous configuration in a 9‐year‐old girl with pharmacodependent neonatal‐onset epilepsy and non‐syndromic intellectual disability. METHODS: Exome sequencing was used for genetic investigation. …”
Publicado 2019
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2728por Polla, Daniel L., Saunders, Harriet R., de Vries, Bert B. A., van Bokhoven, Hans, de Brouwer, Arjan P. M.“…BACKGROUND: Eight different deletions and point variants of the X‐chromosomal gene CNKSR2 have been reported in families with males presenting intellectual disability (ID) and epilepsy. Obligate carrier females with a frameshift variant in the N‐terminal protein coding part of CNKSR2 or with a deletion of the complete gene are not affected. …”
Publicado 2019
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2729por Doody, Owen, Murphy, Fiona, Lyons, Rosemary, Gallen, Anne, Ryan, Judy, Downey, Johanna, Sezgin, Duygu“…They can be used to identify and support nurses’ contribution to high quality, safe, client care and are lacking in specialist intellectual disability nursing. In a national Nursing Quality Care-Metrics project for Irish intellectual disability services, a set of nursing quality care process metrics and associated indicators were established for intellectual disability services. …”
Publicado 2019
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2730“…Receptive and expressive vocabulary and overall intellectual ability at 48 months were measured using standardized assessments. …”
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2732por García-Navarro, C., Jimenez de Ory, S., Velo Higueras, C., Zamora, B., Prieto, L., Ramos, J.T., Navarro, M.L., Escosa-García, L., Jurado-Barba, R., Falcón, Dolores, Moreno, David, González-Tomé, M.I.“…Our aim was to assess the intellectual profile of our cohort, considering both the infection and socio-environmental related variables. …”
Publicado 2020
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2733por Yokoi, Takayuki, Enomoto, Yumi, Naruto, Takuya, Kurosawa, Kenji, Higurashi, Norimichi“…We report a Japanese patient with severe intellectual disability and autism spectrum disorder with a de novo mutation in the active domain of DNMT3A.…”
Publicado 2020
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2734por Carnemolla, Phillippa, Srasuebkul, Preeyaporn, Robertson, Hamish, Trollor, Julian, Nicholas, Nick“…The cohort of people with Intellectual Disability was analysed to estimate, quantify and visualise where people with intellectual disability live in New South Wales (NSW). …”
Publicado 2020
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2735“…BACKGROUND: A preponderance of behavioural symptoms is assumed to be the main difference in the manifestation of symptoms of post‐traumatic stress disorder (PTSD) in people with intellectual disability (ID). However, no study so far has assessed the relationship between challenging behaviour (CB) and PTSD. …”
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2736“…Literature suggests that, as parents, people with intellectual disabilities experience disproportionately high rates of child removal compared to other groups. …”
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2737por Falsaperla, Raffaele, Pappalardo, Xena Giada, Romano, Catia, Marino, Simona Domenica, Corsello, Giovanni, Ruggieri, Martino, Parano, Enrico, Pavone, Piero“…Introduction: Mutations in the contactin-associated protein-like 2 (CNTNAP2) gene (MIM#604569) encoding for CASPR2, a cell adhesion protein of the neurexin family, are known to be associated with autism, intellectual disability, and other neuropsychiatric disorders. …”
Publicado 2020
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2738por Li, Haibin, Li, Changwei, Wang, Anxin, Qi, Yanling, Feng, Wei, Hou, Chengbei, Tao, Lixin, Liu, Xiangtong, Li, Xia, Wang, Wei, Zheng, Deqiang, Guo, Xiuhua“…BACKGROUND: Associations between the frequency of social and intellectual activities and cognitive trajectories are understudied in Chinese middle-aged and older adults. …”
Publicado 2020
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2739por Cuypers, Maarten, Tobi, Hilde, Huijsmans, Cornelis A. A., van Gerwen, Lieke, ten Hove, Michiel, van Weel, Chris, Kiemeney, Lambertus A. L. M., Naaldenberg, Jenneken, Leusink, Geraline L.“…BACKGROUND: Concerns have been raised about the accessibility and quality of cancer‐related care for people with intellectual disabilities (ID). However, there is limited insight into cancer incidence and the utilization of cancer care at the ID population level to inform targeted cancer control strategies. …”
Publicado 2020
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2740“…METHODS: Metadata on weekly incident and near‐incident reports from 2016 to June 2020 involving over 14 000 clients with mild to serious intellectual disability of 's Heeren Loo, a long‐term care organisation for people with intellectual disability, were subjected to interrupted time series analysis, comparing the COVID‐19 with the pre‐COVID‐19 period. …”
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