| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Tingting Xie, Huan Ma, Lijuan Wang, Yanfei D. Can Enactment and Motor Imagery Improve Working Memory for Instructions in Children with Autism Spectrum Disorder and Children with Intellectual Disability? Journal of autism and developmental disorders. 2022-10-14. PMID:36239831. |
this study explored the impacts of enactment and motor imagery on working memory for instructions in children with autism spectrum disorder (asd), children with intellectual disability (id) and typically developing (td) children. |
2022-10-14 |
2023-08-14 |
human |
| Yoeri Sleyp, Irene Valenzuela, Andrea Accogli, Katleen Ballon, Bruria Ben-Zeev, Samuel F Berkovic, Martin Broly, Patrick Callaerts, Raymond C Caylor, Perrine Charles, Nicolas Chatron, Lior Cohen, Antonietta Coppola, Dawn Cordeiro, Claudia Cuccurullo, Ivon Cuscó, Janette diMonda, Ramon Duran-Romaña, Nina Ekhilevitch, Paula Fernández-Alvarez, Christopher T Gordon, Bertrand Isidor, Boris Keren, Gaetan Lesca, Jarymke Maljaars, Saadet Mercimek-Andrews, Michelle M Morrow, Alison M Muir, Frederic Rousseau, Vincenzo Salpietro, Ingrid E Scheffer, Rhonda E Schnur, Joost Schymkowitz, Erika Souche, Jean Steyaert, Elliot S Stolerman, Jaime Vengoechea, Dorothée Ville, Camerun Washington, Karin Weiss, Rinat Zaid, Lynette G Sadleir, Heather C Mefford, Hilde Peeter. De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder. Genetics in medicine : official journal of the American College of Medical Genetics. 2022-10-10. PMID:36214804. |
de novo missense variants in the e3 ubiquitin ligase adaptor klhl20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder. |
2022-10-10 |
2023-08-14 |
human |
| Corneliu Bolbocean, Kayla B Rhidenour, Maria McCormack, Bernhard Suter, Jimmy Lloyd Holde. Resilience, and positive parenting in parents of children with syndromic autism and intellectual disability. Evidence from the impact of the COVID-19 pandemic on family's quality of life and parent-child relationships. Autism research : official journal of the International Society for Autism Research. 2022-10-05. PMID:36196501. |
resilience, and positive parenting in parents of children with syndromic autism and intellectual disability. |
2022-10-05 |
2023-08-14 |
Not clear |
| Ian D Coombs, Julie Ziobro, Volodymyr Krotov, Taryn-Leigh Surtees, Stuart G Cull-Candy, Mark Farran. A gain-of-function GRIA2 variant associated with neurodevelopmental delay and seizures: functional characterization and targeted treatment. Epilepsia. 2022-09-26. PMID:36161652. |
pathogenic variants of gria1-4 have been described in patients with developmental delay, intellectual disability, autism spectrum disorder, and seizures, with gria2 variants typically causing ampar loss-of-function. |
2022-09-26 |
2023-08-14 |
Not clear |
| Seongbin Kim, Hyoseon Oh, Sang Han Choi, Ye-Eun Yoo, Young Woo Noh, Yisul Cho, Geun Ho Im, Chanhee Lee, Yusang Oh, Esther Yang, Gyuri Kim, Won-Suk Chung, Hyun Kim, Hyojin Kang, Yongchul Bae, Seong-Gi Kim, Eunjoon Ki. Postnatal age-differential ASD-like transcriptomic, synaptic, and behavioral deficits in Myt1l-mutant mice. Cell reports. vol 40. issue 12. 2022-09-21. PMID:36130507. |
myelin transcription factor 1 like (myt1l), a zinc-finger transcription factor, promotes neuronal differentiation and is implicated in autism spectrum disorder (asd) and intellectual disability. |
2022-09-21 |
2023-08-14 |
mouse |
| Alexander Kolevzon, Tess Levy, Sarah Barkley, Sandra Bedrosian-Sermone, Matthew Davis, Jennifer Foss-Feig, Danielle Halpern, Katherine Keller, Ana Kostic, Christina Layton, Rebecca Lee, Bonnie Lerman, Matthew Might, Sven Sandin, Paige M Siper, Laura G Sloofman, Hannah Walker, Jessica Zweifach, Joseph D Buxbau. An open-label study evaluating the safety, behavioral, and electrophysiological outcomes of low-dose ketamine in children with ADNP syndrome. HGG advances. vol 3. issue 4. 2022-09-19. PMID:36119806. |
activity-dependent neuroprotective protein (adnp) syndrome is a rare genetic condition associated with intellectual disability and autism spectrum disorder. |
2022-09-19 |
2023-08-14 |
Not clear |
| Sarah A Bennison, Xiaonan Liu, Kazuhito Toyo-Ok. Nuak kinase signaling in development and disease of the central nervous system. Cellular signalling. 2022-09-19. PMID:36122883. |
two members of the amp-activated protein kinase (ampk) related family, nuak1 and nuak2, have drawn attention in neuroscience due to their mutations in autism spectrum disorder (asd), attention deficit hyperactivity disorder (adhd), schizophrenia, and intellectual disability (id). |
2022-09-19 |
2023-08-14 |
Not clear |
| Sara G Susco, Sulagna Ghosh, Patrizia Mazzucato, Gabriella Angelini, Amanda Beccard, Victor Barrera, Martin H Berryer, Angelica Messana, Daisy Lam, Dane Z Hazelbaker, Lindy E Barret. Molecular convergence between Down syndrome and fragile X syndrome identified using human pluripotent stem cell models. Cell reports. vol 40. issue 10. 2022-09-07. PMID:36070702. |
down syndrome (ds), driven by an extra copy of chromosome 21 (hsa21), and fragile x syndrome (fxs), driven by loss of the rna-binding protein fmrp, are two common genetic causes of intellectual disability and autism. |
2022-09-07 |
2023-08-14 |
human |
| C Zittoun, W Garbous, H Raffin, G Guss. [Shiatsu: A complementary medicine for the relief and verbalization of trauma]. L'Encephale. 2022-09-06. PMID:36068089. |
in child and adolescent psychiatry, symptoms such as aggressive behaviors directed against others or self, anxiety, impulsivity, oppositional behaviors, sleep disorders, and impairments in emotional regulation or social interaction can resist conventional therapies, particularly in children with autism spectrum disorder and/or intellectual disability, early childhood trauma, or attachment disorders. |
2022-09-06 |
2023-08-14 |
Not clear |
| Catrina A Calub, Songpoom Benyakorn, Shuai Sun, Ana-Maria Iosif, Lauren H Boyle, Marjorie Solomon, David Hessl, Julie B Schweitze. Working Memory Training in Youth With Autism, Fragile X, and Intellectual Disability: A Pilot Study. American journal on intellectual and developmental disabilities. vol 127. issue 5. 2022-08-26. PMID:36018768. |
working memory training in youth with autism, fragile x, and intellectual disability: a pilot study. |
2022-08-26 |
2023-08-14 |
human |
| Catrina A Calub, Songpoom Benyakorn, Shuai Sun, Ana-Maria Iosif, Lauren H Boyle, Marjorie Solomon, David Hessl, Julie B Schweitze. Working Memory Training in Youth With Autism, Fragile X, and Intellectual Disability: A Pilot Study. American journal on intellectual and developmental disabilities. vol 127. issue 5. 2022-08-26. PMID:36018768. |
this pilot study sought to identify potential markers of improvement from pre-post treatment in response to computerized working memory (wm) training for youth (ages 8-18) with autism spectrum disorder (asd) and comorbid intellectual disability (id) in a single arm, pre-post design. |
2022-08-26 |
2023-08-14 |
human |
| Justin Cheuk Yin Chung, Rosane Lowenthal, Carmel Mevorach, Cristiane Silvestre Paula, Maria Cristina Triguero Veloz Teixeira, Kate Anne Woodcoc. Cross-Cultural Comparison of the Contexts Associated with Emotional Outbursts. Journal of autism and developmental disorders. 2022-08-19. PMID:35984587. |
responses to the brazilian portuguese version of the emotional outburst questionnaire were collected from 327 caregivers of young people (6-25 years) with autism spectrum disorder, down's syndrome, or intellectual disability. |
2022-08-19 |
2023-08-14 |
Not clear |
| Lisa Pavinato, Andrea Delle Vedove, Diana Carli, Marta Ferrero, Silvia Carestiato, Jennifer L Howe, Emanuele Agolini, Domenico A Coviello, Ingrid van de Laar, Ping Yee Billie Au, Eleonora Di Gregorio, Alessandra Fabbiani, Susanna Croci, Maria Antonietta Mencarelli, Lucia P Bruno, Alessandra Renieri, Danai Veltra, Christalena Sofocleous, Laurence Faivre, Benoit Mazel, Hana Safraou, Anne Sophie Denommé-Pichon, Marjon A van Slegtenhorst, Noor Giesbertz, Richard H van Jaarsveld, Anna Childers, R Curtis Rogers, Antonio Novelli, Silvia De Rubeis, Joseph D Buxbaum, Stephen W Scherer, Giovanni Battista Ferrero, Brunhilde Wirth, Alfredo Brusc. CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD. Brain : a journal of neurology. 2022-08-18. PMID:35979925. |
we identified twelve cases with loss-of-function caprin1 variants, and a neurodevelopmental phenotype characterized by language impairment/speech delay (100%), intellectual disability (id; 83%), attention deficit hyperactivity disorder (adhd; 82%), and autism spectrum disorder (asd; 67%). |
2022-08-18 |
2023-08-14 |
mouse |
| Sarah Righetti, Richard J N Allcock, Joy Yaplito-Lee, Louisa Adams, Carolyn Ellaway, Kristi J Jones, Arthavan Selvanathan, Janice Fletcher, James Pitt, André B P van Kuilenburg, Martin B Delatycki, Nigel G Laing, Edwin P Kir. The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain. Molecular genetics and metabolism. vol 137. issue 1-2. 2022-08-04. PMID:35926322. |
beta-ureidopropionase deficiency, caused by variants in upb1, has been reported in association with various neurodevelopmental phenotypes including intellectual disability, seizures and autism. |
2022-08-04 |
2023-08-14 |
human |
| David I Anderson, Evelyne Bloch-Galleg. Key role of Rho GTPases in motor disorders associated with neurodevelopmental pathologies. Molecular psychiatry. 2022-08-02. PMID:35918397. |
the regulators of rho gtpases have often been considered for cognitive diseases such as intellectual disability (id) and autism. |
2022-08-02 |
2023-08-14 |
Not clear |
| Barbara Lombardo, Marco Pagani, Arianna De Rosa, Marcella Nunziato, Sara Migliarini, Martina Garofalo, Marta Terrile, Valeria D'Argenio, Alberto Galbusera, Tommaso Nuzzo, Annaluisa Ranieri, Andrea Vitale, Eleonora Leggiero, Anna Di Maio, Noemi Barsotti, Ugo Borello, Francesco Napolitano, Alessandra Mandarino, Marco Carotenuto, Uriel Heresco-Levy, Massimo Pasqualetti, Paolo Malatesta, Alessandro Gozzi, Francesco Errico, Francesco Salvatore, Lucio Pastore, Alessandro Usiell. D-aspartate oxidase gene duplication induces social recognition memory deficit in mice and intellectual disabilities in humans. Translational psychiatry. vol 12. issue 1. 2022-08-01. PMID:35915065. |
we corroborated this hypothesis by reporting the first clinical case of a young patient with severe intellectual disability, thought disorders and autism spectrum disorder symptomatology, harboring a duplication of a chromosome 6 region, including the entire ddo gene. |
2022-08-01 |
2023-08-14 |
mouse |
| Miya St John, David J Amor, Angela T Morga. Speech and language development and genotype-phenotype correlation in 49 individuals with KAT6A syndrome. American journal of medical genetics. Part A. 2022-07-27. PMID:35892268. |
in conclusion, severe communication difficulties are present in kat6a syndrome, typically on a background of significant intellectual disability, vision, feeding and motor deficits, and autism in some. |
2022-07-27 |
2023-08-14 |
human |
| Carlotta Spagnoli, Grazia G Salerno, Susanna Rizzi, Daniele Frattini, Juha Koskenvuo, Carlo Fusc. Novel CTNNB1 variant leading to neurodevelopmental disorder with spastic diplegia and visual defects plus peripheral neuropathy: A case report. American journal of medical genetics. Part A. 2022-07-26. PMID:35880249. |
pathogenic variants in the β1-catenin (ctnnb1) gene have been identified in patients with various diseases, including syndromic intellectual disability, autism spectrum disorder, familial exudative vitreoretinopathy, and neurodevelopmental disorder with spastic diplegia and visual defects (nedsdv). |
2022-07-26 |
2023-08-14 |
Not clear |
| Gerarda Cappuccio, Margherita Lucia De Bernardi, Alessia Morlando, Cristina Peduto, Iris Scala, Michele Pinelli, Emanuele Bellacchio, Flavio Gioele Gallo, Adriano Magli, Carmen Plaitano, Mercedes Serrano, Leticia Pías, Jaume Català, Mercè Bolasell, Annalaura Torella, Vincenzo Nigro, Ginevra Zanni, Nicola Brunetti-Pierr. Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder. American journal of medical genetics. Part A. 2022-07-25. PMID:35876338. |
hemizygous missense variants in the rpl10 gene encoding a ribosomal unit are responsible for an x-linked syndrome presenting with intellectual disability (id), autism spectrum disorder, epilepsy, dysmorphic features, and multiple congenital anomalies. |
2022-07-25 |
2023-08-14 |
Not clear |
| Yu-Shan Chen, Liu Guo, Man Han, Si-Ming Zhang, Yi-Qi Chen, Jia Zou, Shu-Yuan Bai, Gui-Rong Cheng, Yan Zen. Cerebellum Neuropathology and Motor Skill Deficits in Fragile X Syndrome. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience. 2022-07-23. PMID:35870148. |
fragile x syndrome (fxs) is a leading form of inherited intellectual disability and single-gene cause of autism spectrum disorder (asd) and is characterized by core deficits in cognitive flexibility, sensory sensitivity, emotion, and social interactions. |
2022-07-23 |
2023-08-14 |
Not clear |