A Plasma Proteomic Approach in Rett Syndrome: Classical versus Preserved Speech Variant by Alessio Cortelazzo, Roberto Guerranti, Claudio De Felice, Cinzia Signorini, Silvia Leoncini, Alessandra Pecorelli, Claudia Landi, Luca Bini, Barbara Montomoli, Claudia Sticozzi, Lucia Ciccoli, Giuseppe Valacchi, Joussef Hayek

“…Rett syndrome (RTT) is a progressive neurodevelopmental disorder mainly caused by mutations in the gene encoding the methyl-CpG-binding protein 2 (MeCP2). …”
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Subclinical Inflammatory Status in Rett Syndrome by Alessio Cortelazzo, Claudio De Felice, Roberto Guerranti, Cinzia Signorini, Silvia Leoncini, Alessandra Pecorelli, Gloria Zollo, Claudia Landi, Giuseppe Valacchi, Lucia Ciccoli, Luca Bini, Joussef Hayek

“…Rett syndrome (RTT) is a devastating neurodevelopmental disorder, mainly caused by de novo loss-of-function mutations in the gene encoding MeCP2. …”
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IGF-1 impacts neocortical interneuron connectivity in epileptic spasm generation and resolution by Carlos J. Ballester-Rosado, John T. Le, Trang T. Lam, Anne E. Anderson, James D. Frost, Jr., John W. Swann

“…Results point to (1–3)IGF-1 and its analogues as potential novel disease-modifying therapies for this neurodevelopmental disorder.…”
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Differential effects of left DLPFC anodal and cathodal tDCS interventions on the brain in children with autism: A randomized controlled trial by Jiannan Kang, Juanmei Wu, Xinping Huang, Wenqin Mao, Xiaoli Li

“…Background: Autism spectrum disorder (ASD) is a complex and heterogeneous neurodevelopmental disorder with few effective treatment options. …”
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Intravenous esketamine in pediatric Rett syndrome: An open-label, early phase 1 pilot study by Huiping Li, Shu Liu, Caimei Lin, Yuchao Wu, Xiuping Wu, Yukun Huang, Yajun Wu, Xiubin Tong, Xiu Xu

“…Rett syndrome (RTT) is a severe neurodevelopmental disorder. N-Methyl-d-aspartate receptor (NMDAR) antagonism has shown therapeutic potential in preclinical RTT models. …”
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Adipose tissue may not be a major player in the inflammatory pathogenesis of Autism Spectrum Disorder by Baojiang Wang, Yueyuan Qin, Yong Chen, Xiujie Zheng, Yanjuan Chen, Juan Zhao, Feng Zhang, Shan Duan

“…Purpose: Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder increasingly recognized for its strong association with chronic inflammation. …”
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Immune Dysfunction in Rett Syndrome Patients Revealed by High Levels of Serum Anti-N(Glc) IgM Antibody Fraction by Anna Maria Papini, Francesca Nuti, Feliciana Real-Fernandez, Giada Rossi, Caterina Tiberi, Giuseppina Sabatino, Shashank Pandey, Silvia Leoncini, Cinzia Signorini, Alessandra Pecorelli, Roberto Guerranti, Solange Lavielle, Lucia Ciccoli, Paolo Rovero, Claudio De Felice, Joussef Hayek

“…Rett syndrome (RTT), a neurodevelopmental disorder affecting exclusively (99%) female infants, is associated with loss-of-function mutations in the gene encoding methyl-CpG binding protein 2 (MECP2) and, more rarely, cyclin-dependent kinase-like 5 (CDKL5) and forkhead box protein G1 (FOXG1). …”
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<i>MECP2</i> Duplication Syndrome: AI-Based Diagnosis, Severity Scale Development and Correlation with Clinical and Molecular Variables by Lourdes Vega-Hanna, Dídac Casas-Alba, Sol Balsells, Mercè Bolasell, Patricia Rubio, Ana García-García, Oscar García-García, Mar O’Callaghan, Ainhoa Pascual-Alonso, Judith Armstrong, MDS Group, Antonio F. Martinez-Monseny

“…<b>Background</b>: <i>MECP2</i> duplication syndrome (MDS) (MIM#300260) is a rare X-linked neurodevelopmental disorder. This study aims to (1) develop a specific clinical severity scale, (2) explore its correlation with clinical and molecular variables, and (3) automate diagnosis using the Face2gene platform. …”
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Corticostriatal maldevelopment in the R6/2 mouse model of juvenile Huntington's disease by Carlos Cepeda, Sandra M. Holley, Joshua Barry, Katerina D. Oikonomou, Vannah-Wila Yazon, Allison Peng, Deneen Argueta, Michael S. Levine

“…There is a growing consensus that brain development in Huntington's disease (HD) is abnormal, leading to the idea that HD is not only a neurodegenerative but also a neurodevelopmental disorder. Indeed, structural and functional abnormalities have been observed during brain development in both humans and animal models of HD. …”
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Unraveling pathogenesis and potential biomarkers for autism spectrum disorder associated with HIF1A pathway based on machine learning and experiment validation by Jinru Cui, Heli Li, Cong Hu, Feiyan Zhang, Yunjie Li, Ying Weng, Liping Yang, Yingying Li, Minglan Yao, Hao Li, Xiaoping Luo, Yan Hao

“…Background: Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a high social burden and limited treatments. …”
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An open-label study evaluating the safety and efficacy of AMO-01 for the treatment of seizures in Phelan-McDermid syndrome by Tess Levy, J. Lloyd Holder, Jr., Joseph P. Horrigan, Michael F. Snape, Alison McMorn, Christina Layton, Hailey Silver, Kate Friedman, Hannah Grosman, Slayton Underwood, Danielle Halpern, Jessica Zweifach, Paige M. Siper, Alexander Kolevzon

“…Summary: Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder caused by haploinsufficiency of the SHANK3 gene. …”
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Molecular Mechanisms of Oxytocin Signaling at the Synaptic Connection by Jan Bakos, Annamaria Srancikova, Tomas Havranek, Zuzana Bacova

“…Aberrant regulation of oxytocin signaling is associated with the etiology of neurodevelopmental disorders. Synaptic dysfunctions in neurodevelopmental disorders are becoming increasingly known, and their pathogenic mechanisms could be a target of potential therapeutic intervention. …”
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Monoclonal Gammopathy of Undetermined Significance (MGUS) in a Man with Fragile X-associated Tremor/Ataxia Syndrome by Tanjung A. Sumekar, Aneel A. Ashrani, Tri I. Winarni, Randi J. Hagerman

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Neuroinflammation in Autism: Plausible Role of Maternal Inflammation, Dietary Omega 3, and Microbiota by Charlotte Madore, Quentin Leyrolle, Chloé Lacabanne, Anouk Benmamar-Badel, Corinne Joffre, Agnes Nadjar, Sophie Layé

“…Poor nutritional diversity, as well as nutrient deficiency, is strongly associated with neurodevelopmental disorders in children. For instance, imbalanced levels of essential fatty acids, and especially polyunsaturated fatty acids (PUFAs), are observed in patients with ASD and other neurodevelopmental disorders (e.g., attention deficit hyperactivity disorder (ADHD) and schizophrenia). …”
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MiRNAs as major players in brain health and disease: current knowledge and future perspectives by Sarika V. Kapplingattu, Sujata Bhattacharya, Yogita K. Adlakha

“…Dysfunction of miR-135 has been reported in brain tumors, and neurodegenerative and neurodevelopmental disorders. Several reports show downregulation of miR-135 in glioblastoma, indicating its tumor suppressor role in the pathogenesis of brain tumors. …”
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Targeted correction of megabase-scale CNTN6 duplication in induced pluripotent stem cells and impacts on gene expression by Maria Gridina, Polina Orlova, Oleg Serov

“…Copy number variations of the human CNTN6 gene, resulting from megabase-scale microdeletions or microduplications in the 3p26.3 region, are frequently implicated in neurodevelopmental disorders such as intellectual disability and developmental delay. …”
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Low dose deltamethrin exposure affects gene expression in rat frontal cortex by Junze Wu, Ariv Shah, Rami Ridi, Zacharia Rashid, Ali Sajid Imami, Nilanjana Saferin, James Patrick Burkett

“…This study also emphasizes the need for further research on pyrethroid pesticides and their relationship to neurodevelopmental disorders. …”
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Prenatal Acetaminophen Exposure and its Associated Risk for Attention Deficit Hyperactivity Disorder by Noah J. Spillers, Norris C. Talbot, Patrick M. Luther, Gianni H. Ly, Caylin J. Roberts, Shahab Ahmadzadeh, Sahar Shekoohi, Omar Viswanath, Alan D. Kaye

“…However, the number of children diagnosed with neurodevelopmental disorders, namely ADHD, have been on the rise. …”
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Investigating the impact of psychedelic drugs on social cognition defects: A scoping review protocol. by Sarah Ann Smith, Shaina Smith, Liz Dennett, Yanbo Zhang

“…<h4>Background</h4>Impairments in social cognition are known to be a key factor in several psychiatric and neurodevelopmental disorders. Interest in psychedelic drugs has increased in recent years, with significant research identifying psychedelic and hallucinogenic drugs as modulators of social cognition. …”
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A Boy With KIF11-Associated Disorder Along With ADHD and ASD: Collaboration Between Paediatrics and Child Psychiatry by Annelien Marcelis, Evelyne Van Reet

“…We designed a parent support group survey that showed a higher prevalence of neurodevelopmental disorders in children with KIF11 mutations compared to the general population. …”
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