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12201“…BACKGROUND: Down syndrome (DS), also known as trisomy 21 (T21), is the most common genetic disorder associated with intellectual disability. There are two methods commonly used for prenatal testing of DS: serum screening (SS) for biomarkers in maternal serum and noninvasive prenatal testing (NIPT) for aneuploidy by cell-free DNA (cfDNA) in maternal plasma. …”
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12202por Sparrow-Downes, Victoria M., Trincao-Batra, Sara, Cloutier, Paula, Helleman, Amanda R., Salamatmanesh, Mina, Gardner, William, Baksh, Anton, Kapur, Rishi, Sheridan, Nicole, Suntharalingam, Sinthuja, Currie, Lisa, Carrie, Liam D., Hamilton, Arthur, Pajer, Kathleen“…Studies were excluded if only investigating self-harm in persons with intellectual or developmental disability syndromes. A blinded multi-stage assessment process by pairs of co-authors selected final studies for review. …”
Publicado 2022
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12203por Wöhr, Markus, Fong, Wendy M., Janas, Justyna A., Mall, Moritz, Thome, Christian, Vangipuram, Madhuri, Meng, Lingjun, Südhof, Thomas C., Wernig, Marius“…Moreover, human genetics studies found MYT1L mutations to cause intellectual disability and autism spectrum disorder often coupled with obesity. …”
Publicado 2022
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12204por Cullinane, Alison, McGregor, Debra, Frodsham, Sarah, Hillier, Judith, Guilfoyle, Liam“…The study indicates how the digital activities facilitated and maintained high‐quality learning exchanges through a varied array of intellectual activities involving both experienced and novice scholars. …”
Publicado 2022
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12205por Li, Xue-Lian, Li, Zong-Jun, Liang, Xiao-Yu, Liu, De-Tian, Jiang, Mi, Gao, Liang-Di, Li, Huan, Tang, Xue-Qing, Shi, Yi-Wu, Li, Bing-Mei, He, Na, Li, Bin, Bian, Wen-Jun, Yi, Yong-Hong, Cheng, Chuan-Fang, Wang, Jie“…The missense mutations in severe epileptic phenotypes were more frequently located in the pore region than those in milder epileptic phenotypes (P = 1.67 × 10(–4)); de novo mutations in the epilepsy with intellectual disability (ID) had a higher percentage than those in the epilepsy without ID (P = 1.92 × 10(–3)). …”
Publicado 2022
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12206“…LIMITATIONS: The study’s sampling methods are not likely to capture the perspectives of all autistic individuals, especially those with intellectual disability. Both the autistic and control samples are biased towards UK residents, white individuals, those assigned female at birth, and those who completed an undergraduate degree or higher education. …”
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12207“…Subgroup analyses further demonstrated that maternal migration was ASD risk factor (pooled OR: 1.49; 95% CI: 1.19–1.87), and migrant children were more likely to develop ASD with comorbid intellectual disability (ID) (pooled OR: 1.21, P for interaction = 0.006) than ASD without ID. …”
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12208por Kalinowska, Magdalena, van der Lei, Mathijs B., Kitiashvili, Michael, Mamcarz, Maggie, Oliveira, Mauricio M., Longo, Francesco, Klann, Eric“…BACKGROUND: Fragile X syndrome (FXS), the most common genetic cause of autism spectrum disorder and intellectual disability, is caused by the lack of fragile X mental retardation protein (FMRP) expression. …”
Publicado 2022
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12209“…CONCLUSION: Provide intellectual support for the teaching reform of Ideological and political education in Colleges and universities, cultivate innovative talents in the new era, and firmly grasp the ideological initiative. …”
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12210por Stamberger, Hannah, Crosiers, David, Balagura, Ganna, Bonardi, Claudia M., Basu, Anna, Cantalupo, Gaetano, Chiesa, Valentina, Christensen, Jakob, Dalla Bernardina, Bernardo, Ellis, Colin A., Furia, Francesca, Gardiner, Fiona, Giron, Camille, Guerrini, Renzo, Klein, Karl Martin, Korff, Christian, Krijtova, Hana, Leffner, Melanie, Lerche, Holger, Lesca, Gaetan, Lewis-Smith, David, Marini, Carla, Marjanovic, Dragan, Mazzola, Laure, McKeown Ruggiero, Sarah, Mochel, Fanny, Ramond, Francis, Reif, Philipp S., Richard-Mornas, Aurélie, Rosenow, Felix, Schropp, Christian, Thomas, Rhys H., Vignoli, Aglaia, Weber, Yvonne, Palmer, Elizabeth, Helbig, Ingo, Scheffer, Ingrid E., Striano, Pasquale, Møller, Rikke S., Gardella, Elena, Weckhuysen, Sarah“…Eighty-seven percent had severe or profound intellectual disability, 42% had autistic features, and 65% had significant behavioral problems. …”
Publicado 2022
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12211por Friedlander, Lisa, Vincent, Marc, Berdal, Ariane, Cormier-Daire, Valérie, Lyonnet, Stanislas, Garcelon, Nicolas“…Taking the Defiscience network (rare diseases of cerebral development and intellectual disability) as a reference for the odd ratio analysis, OSCAR, TETECOU, FILNEMUS, FIMARAD, MHEMO networks stand out from the other networks for their significantly higher consideration of oral phenotypic signs and orientation in an oral healthcare. …”
Publicado 2022
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12212“…CLS is characterized by intellectual disability (ID), short stature, tapered fingers, characteristic facial features, and progressive skeletal changes. …”
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12213“…BACKGROUND: A significant proportion of boys with fragile X syndrome (FXS), the most common known genetic cause of intellectual disability, exhibit challenging behaviors such as aggression and self-injury that can cause significant distress to families. …”
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12214por Rodriguez-Gutierrez, Rene, Rodriguez, Andrea Flores, Raygoza-Cortez, Karina, Garcia-Leal, Mariana, Mariño-Velasco, Sofia, Plata-Huerta, Hiram H, Sãenz-Flores, Melissa, Ramirez-Garcia, Luz A, Rojo-Garza, Amanda, Colmenero, Fernando Diaz-Gonzalez, Maraka, Spyridoula, Singh-Ospina, Naikky V, Brito, Juan P, Gonzãlez-Gonzãlez, Jose G“…Given that an intensive approach would increase the number of medications, cost, adverse events and probably decrease adherence, treatment of hypertension in this population should be conducted with a shared decision making approach that makes sense from an intellectual, emotional, and practical basis. Presentation: Sunday, June 12, 2022 12:30 p.m. - 2:30 p.m.…”
Publicado 2022
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12215“…Neither of them have intellectual disability; however, sibling B has attention deficit and hyperactivity disorder (ADHD) and obsessive compulsive disorder (OCD). …”
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12216“…CASE: A 20-year-old female with intellectual disability, seizure disorder and ornithine transcarbamylase deficiency was admitted for recurrent episodes of asymptomatic hypoglycemia. …”
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12217“…CASE PRESENTATION: A 19-year-old patient with a past medical history of congenital single kidney, oral thrush and vaginal candidiasis, hypothyroidism, intellectual disabilities, seizure disorder (onset two years earlier) and depression, was referred to the Endocrinology clinic for the evaluation of hypocalcemia. …”
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12218“…CASE PRESENTATION: This is a 53-year-old female with PHP type 1A, diabetes mellitus type 2, hypothyroidism, vitamin D deficiency, mild intellectual disability, and hypertension. She presented with new onset of seizures. …”
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12219por Jalnapurkar, Isha, Frazier, Jean A., Roth, Mark, Cochran, David M., Foley, Ann, Merk, Taylor, Venuti, Lauren, Ronco, Lucienne, Raines, Shane, Cadavid, Diego“…BACKGROUND: Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability in males and the most common single gene cause of autism. …”
Publicado 2022
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12220por Schmitt, Lauren M., Li, Joy, Liu, Rui, Horn, Paul S., Sweeney, John A., Erickson, Craig A., Pedapati, Ernest V.“…BACKGROUND: Fragile X syndrome (FXS) is the leading inherited monogenic cause of intellectual disability and autism spectrum disorder. …”
Publicado 2022
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