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10901“…The GWG-ASD association is independent of maternal BMI and child’s intellectual disability, but offspring’s genetic susceptibility connection to the GWG-ASD association remains a topic of debate. …”
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10902por Cogram, Patricia, Alkon, Daniel L., Crockford, David, Deacon, Robert M. J., Hurley, Michael J., Altimiras, Francisco, Sun, Miao-Kun, Tranfaglia, Michael“…Fragile X syndrome (FXS), an X-chromosome linked intellectual disability, is the leading monogenetic cause of autism spectrum disorder (ASD), a neurodevelopmental condition that currently has no specific drug treatment. …”
Publicado 2020
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10903“…AIM: To measure the IQ and record dermatoglyphic patterns of children including intellectually disabled aged between 5 years and 11 years and to correlate them. …”
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10904“…Objective(s): The aim was to explore and compare the relationships of the urbanization degree of their living cities and the functioning performance of daily living in various domains among adults with intellectual disability (ID), autism, and concomitant communicative impairment (CCI). …”
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10905por Iyengar, Smriti, Woller, Sarah A., Hommer, Rebecca, Beierlein, Jennifer, Wright, Clinton B., Tamiz, Amir P., Karp, Barbara I.“…Importantly, confidentiality and intellectual property are protected. The PSPP provides a rigorous platform to identify and profile non-opioid, non-addictive therapeutics for pain. …”
Publicado 2020
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10906por Kruizinga, Matthijs D., Zuiker, Rob G.J.A., Sali, Elif, de Kam, Marieke L., Doll, Robert J., Groeneveld, Geert Jan, Santen, Gijs W.E., Cohen, Adam F.“…There is a lack of reliable, repeatable, and non-invasive clinical endpoints when investigating treatments for intellectual disability (ID). The aim of this study is to explore a novel approach towards developing new endpoints for neurodevelopmental disorders, in this case for ARID1B-related ID. …”
Publicado 2020
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10907por Napoli, Eleonora, McLennan, Yingratana Amabel, Schneider, Andrea, Tassone, Flora, Hagerman, Randi J., Giulivi, Cecilia“…By applying a multivariable correlation matrix, a generalized bioenergetics impairment was correlated with diagnoses of the PM, FXTAS and its severity, FXPOI and anxiety. Intellectual deficits were strongly correlated with both mitochondrial dysfunction and with CGG repeat length. …”
Publicado 2020
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10908“…CTD encompasses an array of clinical manifestations, including severe intellectual disability, epilepsy, autism, development delay, and motor dysfunction. …”
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10909por Gonçalves, Helen, Wehrmeister, Fernando C., Assunção, Maria C. F., Tovo‐Rodrigues, Luciana, de Oliveira, Isabel O., Murray, Joseph, Anselmi, Luciana, Barros, Fernando C., Menezes, Ana M. B.“…The mean total Child Behavior Checklist score was 44.1 ± 23.61 (≥16 months), and the mean intellectual quotient score in children ≥6 years of age was 97.9 ± 15.4. …”
Publicado 2020
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10910por Davidson, Benjamin, Hamani, Clement, Meng, Ying, Baskaran, Anusha, Sharma, Sachie, Abrahao, Agessandro, Richter, Margaret Anne, Levitt, Anthony, Giacobbe, Peter, Lipsman, Nir, Rabin, Jennifer S.“…We also examined whether changes in clinical symptoms were associated with changes in cognitive performance. At baseline intellectual functioning was in the average to high-average range for the group. …”
Publicado 2020
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10911por Leone, Paola E., Yumiceba, Verónica, Jijón-Vergara, Ariana, Pérez-Villa, Andy, Armendáriz-Castillo, Isaac, García-Cárdenas, Jennyfer M., Guerrero, Santiago, Guevara-Ramírez, Patricia, López-Cortés, Andrés, Zambrano, Ana K., Hernández-Rivas, Jesús M., García, Juan Luis, Paz-y-Miño, César“…Clinical features of our patient are closely related with the loss of one X chromosome, however mild intellectual disability can be likely explained by autosomal genes. …”
Publicado 2020
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10912“…Haploinsufficiency of the SHANK3 gene contributes to Phelan-McDermid syndrome, which often presents an autism spectrum disorder phenotype along with moderate to severe intellectual disability. A SHANK3 gene deletion in mice results in elevated excitation of cortical pyramidal neurons that alters signaling to other brain areas. …”
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10913por Palacio-Ortiz, Juan David, Londoño-Herrera, Juan Pablo, Nanclares-Márquez, Alejandro, Robledo-Rengifo, Paula, Quintero-Cadavid, Claudia Patricia“…Specific information is presented on attention deficit hyperactivity disorder, autism spectrum disorder, intellectual disability, anxiety disorder, obsessive compulsive disorder, and post-traumatic stress disorder. …”
Publicado 2020
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10914por Engen, Magnus Johan, Lyngstad, Siv Hege, Ueland, Torill, Simonsen, Carmen Elisabeth, Vaskinn, Anja, Smeland, Olav, Bettella, Francesco, Lagerberg, Trine Vik, Djurovic, Srdjan, Andreassen, Ole A., Melle, Ingrid“…We here investigated the association between a polygenic score for schizophrenia (SCZ(PGS)) and six well-defined cognitive domains, in addition to a composite measure of cognitive ability and a measure of premorbid intellectual ability in 731 participants with a psychotic disorder and 851 healthy controls. …”
Publicado 2020
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10915por Ganesan, Shiva, Galer, Peter D., Helbig, Katherine L., McKeown, Sarah E., O’Brien, Margaret, Gonzalez, Alexander K., Felmeister, Alex S., Khankhanian, Pouya, Ellis, Colin A., Helbig, Ingo“…Correcting for multiple testing, we identified significant associations between “Status epilepticus” with SCN1A at 1.0 years, “Severe intellectual disability” with PURA at 9.75 years, and “Infantile spasms” and “Epileptic spasms” with STXBP1 at 0.5 years. …”
Publicado 2020
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10916por Kahalley, Lisa, Peterson, Rachel, Ris, M Douglas, Janzen, Laura, Okcu, M Fatih, Grosshans, David, Ramaswamy, Vijay, Paulino, Arnold, Hodgson, David, Mahajan, Anita, Tsang, Derek, Laperriere, Normand, Whitehead, William, Dauser, Robert, Taylor, Michael, Conklin, Heather, Bouffet, Eric, Chintagumpala, Murali, Mabbott, Donald“…This is the strongest evidence to date of an intellectual sparing advantage with PRT in the treatment of pediatric medulloblastoma.…”
Publicado 2020
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10917por Kiguchi, Hiro, Tylawsky, Daniel, Vaynshteyn, Jake, Gerwin, Jeffrey, Manzari, Mandana, Shah, Janki, Li, Na, Shamay, Yosi, Greenblatt, Matthew, Heller, Daniel, Raju, Praveen“…Current therapies result in devastating morbidities including intellectual disability and secondary malignancies. Although molecularly targeted agents against the SHH pathway have demonstrated efficacy, on-target bone toxicities suggest new therapeutic approaches are needed. …”
Publicado 2020
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10918por Colón-Rodríguez, Alexandra, Uribe-Salazar, José M., Weyenberg, KaeChandra B., Sriram, Aditya, Quezada, Alejandra, Kaya, Gulhan, Jao, Emily, Radke, Brittany, Lein, Pamela J., Dennis, Megan Y.“…As a proof-of-principle, we tested our approach on two novel CRISPR-generated mutant zebrafish lines carrying predicted null-alleles of syngap1b and slc7a5, orthologs to two human genes implicated in autism-spectrum disorder, intellectual disability, and epilepsy. Using our optimized high-throughput phenotyping protocol, we recapitulated previously published results from mouse and zebrafish models of these candidate genes. …”
Publicado 2020
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10919por Broersen, Marieke, Frieswijk, Nynke, Kroon, Hans, Vermulst, Ad A., Creemers, Daan H. M.“…Other frequently reported difficulties were substance misuse, the involvement of the legal system or police, problems with intellectual functioning, and personal finance. Patients were classified into four distinct classes: the “internalizing,” “externalizing,” “non-specific,” and the “overly impulsive” subgroup. …”
Publicado 2020
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10920“…Importantly, the brain regions and cell types in which WWOX is most abundantly expressed, such as the EC and BLA, are intimately linked to pathologies and syndromic conditions in turn associated with this gene, such as epilepsy, intellectual disability, ASD, and AD. Higher Wwox expression in interneurons and granule cells from cerebellum points to a direct link to the described cerebellar ataxia in cases of WWOX loss of function. …”
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