| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Aloïse Mabondzo, Jiddeke van de Kamp, Saadet Mercimek-Andrew. Dodecyl creatine ester therapy: from promise to reality. Cellular and molecular life sciences : CMLS. vol 81. issue 1. 2024-04-17. PMID:38632116. |
pathogenic variants in slc6a8, the gene which encodes creatine transporter slc6a8, prevent creatine uptake in the brain and result in a variable degree of intellectual disability, behavioral disorders (e.g., autism spectrum disorder), epilepsy, and severe speech and language delay. |
2024-04-17 |
2024-04-20 |
Not clear |
| Fabian Heim, Constance Scharff, Simon E Fisher, Katharina Riebel, Carel Ten Cat. Auditory discrimination learning and acoustic cue weighing in female zebra finches with localised FoxP1 knockdowns. Journal of neurophysiology. 2024-04-17. PMID:38629163. |
rare disruptions of the transcription factor foxp1 are implicated in a human neurodevelopmental disorder characterised by autism and/or intellectual disability with prominent problems in speech and language abilities. |
2024-04-17 |
2024-04-19 |
human |
| Sadhna Rao, Anastasiia Sadybekov, David C DeWitt, Joanna Lipka, Vsevolod Katritch, Bruce E Herrin. Detection of autism spectrum disorder-related pathogenic trio variants by a novel structure-based approach. Molecular autism. vol 15. issue 1. 2024-04-02. PMID:38566250. |
glutamatergic synapse dysfunction is believed to underlie the development of autism spectrum disorder (asd) and intellectual disability (id) in many individuals. |
2024-04-02 |
2024-04-05 |
Not clear |
| Maike F Dohrn, Guney Bademci, Adriana P Rebelo, Médéric Jeanne, Nicholas A Borja, Danique Beijer, Matt C Danzi, Stephanie A Bivona, Paul Gueguen, Mohammad F Zafeer, Mustafa Tekin, Stephan Züchne. Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism. Annals of clinical and translational neurology. 2024-03-20. PMID:38504481. |
recurrent atp1a1 variant gly903arg causes developmental delay, intellectual disability, and autism. |
2024-03-20 |
2024-03-23 |
Not clear |
| Lin-Yu Li, Ayako Imai, Hironori Izumi, Ran Inoue, Yumie Koshidaka, Keizo Takao, Hisashi Mori, Tomoyuki Yoshid. Differential contribution of canonical and noncanonical NLGN3 pathways to early social development and memory performance. Molecular brain. vol 17. issue 1. 2024-03-13. PMID:38475840. |
although, nlgn3 gene is known as a risk gene for neurodevelopmental disorders such as autism spectrum disorder (asd) and intellectual disability (id), the pathogenic contribution of the canonical nlgn3-nrxn and noncanonical nlgn3-ptpδ pathways to these disorders remains elusive. |
2024-03-13 |
2024-03-15 |
mouse |
| Alison Garber, Lisa S Weingarten, Nicolas J Abreu, Houda Zghal Elloumi, Tobias Haack, Clara Hildebrant, Núria Martínez-Gil, Jennifer Mathews, Amelie Johanna Müller, Irene Valenzuela Palafoll, Connolly Steigerwald, Wendy K Chun. Rare predicted deleterious FEZF2 variants are associated with a neurodevelopmental phenotype. American journal of medical genetics. Part A. 2024-03-01. PMID:38425142. |
rare variants in fezf2 have previously been suggested to play a role in autism, and cases of 3p14 microdeletions that include fezf2 share a neurodevelopmental phenotype including mild dysmorphic features and intellectual disability. |
2024-03-01 |
2024-03-03 |
Not clear |
| Andrew Cashin, Julia Morphet, Nathan J Wilson, Amy Pracili. Barriers to communication with people with developmental disabilities: A reflexive thematic analysis. Nursing & health sciences. vol 26. issue 1. 2024-02-28. PMID:38408760. |
the findings identify the benefit of educational design based on the foundation of understanding the diversity in thinking and information processing represented by the forms of neurodiversity in intellectual disability and autism spectrum disorder. |
2024-02-28 |
2024-03-01 |
Not clear |
| Sarah M Furnier, Ronald Gangnon, Julie L Daniels, Susan Ellis Weismer, Cy Nadler, Karen Pazol, Nuri M Reyes, Steven Rosenberg, Eric Rubenstein, Lisa D Wiggins, Marshalyn Yeargin-Allsopp, Maureen S Durki. Racial and ethnic disparities in the co-occurrence of intellectual disability and autism: Impact of incorporating measures of adaptive functioning. Autism research : official journal of the International Society for Autism Research. 2024-02-28. PMID:38415400. |
racial and ethnic disparities in the co-occurrence of intellectual disability and autism: impact of incorporating measures of adaptive functioning. |
2024-02-28 |
2024-03-01 |
human |
| Yanzhuang Ge, Yan Cheng, Tingting Yin, Xingsheng Peng, Zhongmeng Xiong, Bingbing Wu, Huijun Wang, Man Xiong, Wenhao Zho. Generation of a human induced pluripotent stem cell line (FDCHi012-A) from a patient with DYRK1A-related intellectual disability syndrome carrying DYRK1A mutation (c.1024G > T). Stem cell research. vol 76. 2024-02-21. PMID:38382213. |
dyrk1a haploinsufficiency causes a neurodevelopmental syndrome termed dyrk1a-related intellectual disability syndrome which is associated with a range of symptoms including microcephaly, epileptic seizures, and autism spectrum disorder. |
2024-02-21 |
2024-02-24 |
human |
| Angela T Morgan, David J Amor, Miya D St John, Ingrid E Scheffer, Michael S Hildebran. Genetic architecture of childhood speech disorder: a review. Molecular psychiatry. 2024-02-17. PMID:38366112. |
most of the new candidate genes for cas are associated with previously described neurodevelopmental conditions that include intellectual disability, autism and epilepsy; broadening the phenotypic spectrum to a distinctly milder presentation defined by primary speech disorder in the setting of normal intellect. |
2024-02-17 |
2024-02-19 |
Not clear |
| Ariela S Buxbaum Grice, Laura Sloofman, Tess Levy, Hannah Walker, Gauri Ganesh, Miguel Rodriguez de Los Santos, Pardis Armini, Joseph D Buxbaum, Alexander Kolevzon, Ana Kostic, Michael S Bree. Transient peripheral blood transcriptomic response to ketamine treatment in children with ADNP syndrome. medRxiv : the preprint server for health sciences. 2024-02-14. PMID:38352457. |
activity-dependent neuroprotective protein (adnp) syndrome is a rare neurodevelopmental disorder resulting in intellectual disability, developmental delay and autism spectrum disorder (asd) and is due to mutations in the |
2024-02-14 |
2024-02-16 |
Not clear |
| Ferruccio Romano, Maria K Haanpää, Pawel Pomianowski, Amanda Rose Peraino, John R Pollard, Maria Francesca Di Feo, Monica Traverso, Mariasavina Severino, Maria Derchi, Edoardo Henzen, Federico Zara, Francesca Faravelli, Valeria Capra, Marcello Scal. Expanding the phenotype of UPF3B-related disorder: Case reports and literature review. American journal of medical genetics. Part A. 2024-02-06. PMID:38318947. |
hemizygous variants in the upf3b gene cause a spectrum of neuropsychiatric issues including intellectual disability, autism spectrum disorder, attention deficit hyperactivity disorder, and schizophrenia/childhood-onset schizophrenia (cos). |
2024-02-06 |
2024-02-09 |
human |
| Judith L A Fishburn, Heather L Larson, An Nguyen, Chloe J Welch, Taylor Moore, Aliyah Penn, Johnathan Newman, Anthony Mangino, Erin Widman, Rana Ghobashy, Jocelyn Witherspoon, Wendy Lee, Kimberly A Mulliga. Bisphenol F affects neurodevelopmental gene expression, mushroom body development and behavior in Drosophila melanogaster. Neurotoxicology and teratology. 2024-02-01. PMID:38301979. |
further, bpf may elicit a gene-environment interaction with drosophila fragile x messenger ribonucleoprotein 1 (dfmr1)-the ortholog of human fmr1, which causes fragile x syndrome and is the most common monogenetic cause of intellectual disability and autism spectrum disorder. |
2024-02-01 |
2024-02-04 |
human |
| Marine Tessarech, Gaëlle Friocourt, Florent Marguet, Maryline Lecointre, Morgane Le Mao, Rodrigo Muñoz Díaz, Cyril Mignot, Boris Keren, Bénédicte Héron, Charlotte De Bie, Koen Van Gassen, Didier Loisel, Benoit Delorme, Steffen Syrbe, Annick Klabunde-Cherwon, Rami Abou Jamra, Meret Wegler, Bert Callewaert, Annelies Dheedene, Merzouka Zidannes-Marinnes, Agnès Guichet, Céline Bris, Patrick Van Bogaert, Florence Biquard, Guy Lenaers, Pascale Marcorelles, Claude Ferec, Bruno Gonzalez, Vincent Procaccio, Antonio Vitobello, Dominique Bonneau, Annie Laquerriere, Salim Khiati, Estelle Coli. De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity. Genetics in medicine : official journal of the American College of Medical Genetics. 2024-01-30. PMID:38288683. |
de novo variants in sp9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity. |
2024-01-30 |
2024-02-01 |
human |
| Connie T Y Xie, Stephen F Pastore, John B Vincent, Paul W Frankland, Paul A Hame. Nonsynonymous Mutations in Intellectual Disability and Autism Spectrum Disorder Gene PTCHD1 Disrupt Cells. vol 13. issue 2. 2024-01-26. PMID:38275824. |
nonsynonymous mutations in intellectual disability and autism spectrum disorder gene ptchd1 disrupt |
2024-01-26 |
2024-01-28 |
Not clear |
| Chuanhui Ge, Yuxin Tian, Chunchun Hu, Lianni Mei, Dongyun Li, Ping Dong, Ying Zhang, Huiping Li, Daijing Sun, Wenzhu Peng, Xiu Xu, Yan Jiang, Qiong X. Clinical impact and in vitro characterization of ADNP variants in pediatric patients. Molecular autism. vol 15. issue 1. 2024-01-23. PMID:38254177. |
furthermore, adnp variants have been identified as one of the most common single-gene causes of autism spectrum disorder (asd) and intellectual disability. |
2024-01-23 |
2024-01-25 |
Not clear |
| Ivan Rosa E Silva, Juliana Helena Costa Smetana, Juliana Ferreira de Oliveir. A comprehensive review on DDX3X liquid phase condensation in health and neurodevelopmental disorders. International journal of biological macromolecules. 2024-01-13. PMID:38218270. |
ddx3x has been related to several human conditions, including neurodevelopmental disorders, such as intellectual disability and autism spectrum disorder. |
2024-01-13 |
2024-01-16 |
mouse |
| Sébastien Delhaye, Marielle Jarjat, Asma Boulksibat, Clara Sanchez, Alessandra Tempio, Andrei Turtoi, Mauro Giorgi, Sandra Lacas-Gervais, Gabriele Baj, Carole Rovere, Viviana Trezza, Manuela Pellegrini, Thomas Maurin, Enzo Lalli, Barbara Bardon. Defects in AMPAR trafficking and microglia activation underlie socio-cognitive deficits associated to decreased expression of phosphodiesterase 2 a. Neurobiology of disease. 2023-12-28. PMID:38154608. |
in cerebral cortex and hippocampus, pde2a expression level is upregulated in fmr1-ko mice, a model of the fragile x syndrome (fxs), the most common form of inherited intellectual disability (id) and autism spectrum disorder (asd). |
2023-12-28 |
2023-12-31 |
mouse |
| Florencia Talmón-Knuser, Francisco González-Sala, Laura Lacomba-Trejo, Paula Samper-Garcí. Reactive Attachment Disorder and Its Relationship to Psychopathology: A Systematic Review. Children (Basel, Switzerland). vol 10. issue 12. 2023-12-23. PMID:38136094. |
these difficulties are more present in children with rad compared to children without personal difficulties, or children with dsed, children with autism, children with intellectual disabilities or children with hyperactivity. |
2023-12-23 |
2023-12-25 |
Not clear |
| Reinie Cordier, Lauren Parsons, Sarah Wilkes-Gillan, Matthew Cook, Matthew McCloskey-Martinez, Pamela Graham, David Littlefair, Cally Kent, Renée Speye. Friendship interventions for children with neurodevelopmental needs: A systematic review and meta-analysis. PloS one. vol 18. issue 12. 2023-12-14. PMID:38096327. |
children with neurodevelopmental disorders such as attention-deficit hyperactivity disorder (adhd), autism, developmental language disorder (dld), intellectual disability (id), and social (pragmatic) communication disorder (spcd) experience difficulties with social functioning due to differences in their social, emotional and cognitive skills. |
2023-12-14 |
2023-12-17 |
Not clear |