Balanced Growth project: a protocol of a single-centre observational study on the involvement of the vestibular system in a child’s motor and cognitive development by Maya Danneels, Ruth Van Hecke, Laura Leyssens, Leen Maes, Hilde Van Waelvelde, Frederik J A Deconinck, Jan R Wiersema, Chloe Clauws, Ingeborg Dhooge

“…It includes the following objectives: (1) to understand the association between motor skills, cognitive performances and the vestibular function in typically developing school-aged children, with special focus on the added value of the vestibular system in higher cognitive skills and motor competence; (2) to investigate whether a vestibular dysfunction (with/without an additional auditory disease) has an impact on motor skills, cognitive performances and motor–cognitive interactions in children and (3) to assess if an underlying vestibular dysfunction can be identified in school-aged children with NDD, with documentation of the occurrence and characteristics of vestibular dysfunctions in this group of children using an extensive vestibular test battery.Methods and analysis In order to achieve the objectives of the observational cross-sectional Balanced Growth study, a single-task and dual-task test protocol was created, which will be performed in three groups of school-aged children (6–12 years old): (1) a typically developing group (n=140), (2) (audio) vestibular-impaired children (n=30) and (3) children with an NDD diagnosis (n=55) (ie, autism spectrum disorder, attention deficit/hyperactivity disorder and/or developmental coordination disorder). …”
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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

“…Key features in males comprised intellectual disability (100%), hypotonia (93%), autism spectrum disorder (77%) and developmental regression (52%). …”
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Review and metabolomic profiling of unsolved case reveals newly reported autosomal dominant congenital disorder of glycosylation, type Iw formerly thought to only be an autosomal r... by Kimberly M. Ezell, Yutaka Furuta, Devin Oglesbee, Eniko K. Pivnick, David Rinker, Jonathan H. Sheehan, Rory J. Tinker, Rizwan Hamid, Joy D. Cogan, Lynette Rives, Serena Neumann, Brian Corner, Mary Koziura, John A. Phillips, III

“…This report describes a 17-year-old male who was referred to the Undiagnosed Diseases Network (UDN) with a history of macrocephaly, failure to thrive, short stature, epilepsy, autism, attention-deficit/hyperactivity disorder, mild developmental delay, intermittent hypotonia, dysmorphic features, and mildly enlarged aortic root. …”
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Safety and effectiveness of weighted blankets for symptom management in patients with mental disorders: A systematic review and meta-analysis of randomized controlled trials by Yanli Zhao, Qiushi Zhang, Zhihua Liu, Zhongjian Zhao, Qinghua Zhu

“…Background: The current practice guideline regarding treatment for insomnia and sleep disturbances among children and adolescents with autism spectrum disorder (ASD) has been published and it suggests that the use of weighted blankets might not be an evidence-informed practice. …”
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Predicting psychiatric risk: IgG N-glycosylation traits as biomarkers for mental health by Yinchun Lv, Yulin Chen, Xue Li, Qiaorong Huang, Ran Lu, Ran Lu, Ran Lu, Junman Ye, Wentong Meng, Chuanwen Fan, Chuanwen Fan, Xianming Mo

“…No causal relationship between IgG N-glycan traits and autism spectrum disorder (ASD) and no evidence of reverse causal associations was found.ConclusionHere, we demonstrate that IgG N-glycan traits have a causal relationship with psychiatric disorders, especially IGP7’s protective role, offering new insights into their pathogenesis. …”
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Genetic analysis of partial duplication of the long arm of chromosome 16 by Dan Tang, Ai Chen, Jing Xu, Yu Huang, Jun Fan, Jin Wang, Hui Zhu, Guanghuan Pi, Li Yang, Fu Xiong, Zemin Luo, Gen Li, Lan Zeng, Shuyao Zhu

“…The primary clinical phenotypes associated with this syndrome include abnormal facial morphology, global developmental delay (GDD), short stature, and reported predisposing factors for atypical behavior, autism, the development of learning disabilities, and neuropsychiatric disorders. …”
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Delusion-proneness predicts COVID-19 vaccination behavior by Kasim Acar, Kasim Acar, Ariadni Karagiannidou, Ariadni Karagiannidou, Andreas Olsson, Andreas Olsson, Jan-Willem van Prooijen, Jan-Willem van Prooijen, Jan-Willem van Prooijen, Leonie J. T. Balter, Leonie J. T. Balter, Leonie J. T. Balter, Leonie J. T. Balter, John Axelsson, John Axelsson, John Axelsson, Martin Ingvar, Alexander V. Lebedev, Alexander V. Lebedev, Predrag Petrovic, Predrag Petrovic

“…These effects remained after adjusting for anxiety, ADHD, and ASD (Autism Spectrum Disorder) traits as well as for psychiatric diagnoses and sex. …”
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PM2.5 and hospitalizations through the emergency department in people with disabilities: a nationwide case-crossover study in South KoreaResearch in context by Jinah Park, Ayoung Kim, Michelle L. Bell, Ziyad Al-Aly, Seoyeong Ahn, Sooyoung Kim, Dohoon Kwon, Cinoo Kang, Jieun Oh, Ho Kim, Whanhee Lee

“…The analysis included all ED admission cases of beneficiaries with disabilities living in Korea (physical, intellectual, and mental disabilities; brain lesion disorders; blindness or vision loss; deafness or hearing loss; and autism) as well as selected controls without disabilities. …”
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FitSkills: protocol for a stepped wedge cluster randomised trial of a community-based exercise programme to increase participation among young people with disability by Nicholas F Taylor, Nora Shields, Andrea M Bruder, Claire Willis, Christine Imms, Luke A Prendergast, Jennifer J Watts, Ben van Dorsselaer, Georgia McKenzie, Luke Prendergast, Jason Calleja, David Strickland, Shawn Stephenson, Michael P Walker, Justine Robbins, Melissa Barkley, Cameron Geddes, Shane Lee, Richard Amon, Juliet Ryan, Ayden Shaw, Simone Power, Rebecca McCabe, Shannon Cheal, Vicki Cavelieros, Debby Fraumano, Sue Blandford, Lucy Bain, Sonia Bonadio, Sue O’Riley, Bernadette Roberts, John Summers, Troy Walker, Fiona Kriaris, Sam Taylor, Tom Scanlan, Abigail Elliot, Lachlan O’Brien, Jenni Smith, Stacey Cleary, Brooke Adair, Melissa Moore, Jess Kuek

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Understanding social behaviours across neurodiverse young people: roles of social cognition and self-regulation by Iciar Iturmendi-Sabater, Evdokia Anagnostou, Marc A. Fournier, Jennifer Crosbie, Russell Schachar, Robert Nicolson, Stelios Georgiadis, Elizabeth Kelley, Jessica Jones, Jessica Brian, Hsiang-Yuan Lin, Meng-Chuan Lai

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An expansion of the phenotype in individuals with SYNCRIP-Related Neurodevelopmental Disorder by Tooba Shafiq, Joanna L. Feng, Lindsay Phillips, Kara Murias, Marcia Ferguson, Kristin Baranano, Alaina Acchione, Patricia Kipkemoi, Collins Kipkoech, Eunice Chepkemoi, Amina Abubakar, Charles Newton, Celia van der Merwe, Emily O’Heir, Alice Galvin, Aixa Gonzalez Garcia, Alisha D’Souza, Jennifer Stefanich, Amelle Shillington, Annabelle Tuttle, Erin Torti, Elen Zhu, Margaretha AJ Morsink, Ekaterina Lebayle, Barbara Corneo, Christopher L. Ricupero, Ping Yee Billie Au, Antonie D. Kline, Meena Balasubramanian, Jennifer Bain, Madelyn A. Gillentine

“…Here, we expand the phenotype of SYNCRIP-RNDD beyond a generic neurodevelopmental disorder to a variable syndrome consisting of mild to borderline developmental delay/intellectual disability, speech and language delay, behavioral differences such as autism spectrum disorder, structural brain anomalies, hypotonia, and seizures. …”
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Neurotrophin-3 as a mediator in the link between PM2.5 exposure and psychiatric disorders: A Mendelian randomization study by Yuan Zhang, Wei Wang, Xuening Zhang, Ran Jing, Xin Wen, Peng Xiao, Xinjie Liu, Zengle Zhao, Tongmin Chang, Yufei Li, Wen Liu, Chenxi Sun, Xiaorong Yang, Lejin Yang, Ming Lu

“…Additionally, PM2.5 was not significantly associated with autism spectrum disorders (OR: 1.24, 95 % CI: 0.83–1.65), post-traumatic stress disorder (OR: 1.51, 95 % CI: 1.11–1.91), obsessive-compulsive disorder (OR: 0.81, 95 % CI: −0.07–1.69), or anorexia nervosa (OR: 1.42, 95 % CI: 0.86–1.98). …”
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Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder by Itay Tokatly Latzer, Jean-Baptiste Roullet, Wardiya Afshar-Saber, Henry H. C. Lee, Mariarita Bertoldi, Gabrielle E. McGinty, Melissa L. DiBacco, Erland Arning, Melissa Tsuboyama, Alexander Rotenberg, Thomas Opladen, Kathrin Jeltsch, Àngels García-Cazorla, Natalia Juliá-Palacios, K. Michael Gibson, Mustafa Sahin, Phillip L. Pearl

“…Language developmental delays were more prominent than motor. Autism, epilepsy, movement disorders, sleep disturbances, and various psychiatric behaviors constituted the core of the disorder’s clinical phenotype. …”
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Gut mycobiome and neuropsychiatric disorders: insights and therapeutic potential by Ines Hadrich, Mariem Turki, Mariem Turki, Imen Chaari, Imen Chaari, Balkiss Abdelmoula, Rahma Gargouri, Nahed Khemakhem, Dhawia Elatoui, Fatma Abid, Sonda Kammoun, Sonda Kammoun, Mona Rekik, Mona Rekik, Samir Aloulou, Samir Aloulou, Mariem Sehli, Mariem Sehli, Aymen Ben Mrad, Aymen Ben Mrad, Sourour Neji, Fabian M. Feiguin, Jihene Aloulou, Jihene Aloulou, Nouha Bouayed Abdelmoula, Hayet Sellami, Hayet Sellami

“…Key methodologies for studying mycobiota, such as high-throughout sequencing and bioinformatics approaches, were also reviewed to highlight advances in the field.ResultsEmerging research links gut mycobiota dysbiosis to conditions such as schizophrenia, Alzheimer’s disease, autism spectrum disorders, bipolar disorder, and depression. …”
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Enhancing early detection of neurological and developmental disorders and provision of intervention in low-resource settings in Uttar Pradesh, India: study protocol of the G.A.N.E.... by Moreno Toldo, Swami Varishthananda, Christa Einspieler, Neeraj Tripathi, Anshu Singh, Surendra K Verma, Kanchan Vishwakarma, Dajie Zhang, Agyeya Dwivedi, Ritika Gupta, Sanjay Karn, Nirmal Kerketta, Ram Narayan, Karuna Nikam Singh, Sumitra Rani, Akanksha Singh, Divyanshu Singh, Krishna Pratap Singh, Navin Singh, Neeraj Singh, Rishi Singh, Shyam P Singh, Rakesh Srivastava, Sandeep Srivastava, Sanjeev Srivastava, Gopal Yadav, Preeti Yadav, Sheshnath Yadav, Sujata Yadav, Peter B Marschik

“…In addition, children with developmental delay, intellectual disabilities, late detected genetic disorders or autism spectrum disorder show abnormal general movements (GMs) during infancy. …”
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CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature by Liselot van der Laan, Ananília Silva, Lotte Kleinendorst, Kathleen Rooney, Sadegheh Haghshenas, Peter Lauffer, Yasemin Alanay, Pratibha Bhai, Alfredo Brusco, Sonja de Munnik, Bert B.A. de Vries, Angelica Delgado Vega, Marc Engelen, Johanna C. Herkert, Ron Hochstenbach, Saskia Hopman, Sarina G. Kant, Ryutaro Kira, Mitsuhiro Kato, Boris Keren, Hester Y. Kroes, Michael A. Levy, Ngu Lock-Hock, Saskia M. Maas, Grazia M.S. Mancini, Carlo Marcelis, Naomichi Matsumoto, Takeshi Mizuguchi, Alessandro Mussa, Cyril Mignot, Anu Närhi, Ann Nordgren, Rolph Pfundt, Abeltje M. Polstra, Slavica Trajkova, Yolande van Bever, Marie José van den Boogaard, Jasper J. van der Smagt, Tahsin Stefan Barakat, Mariëlle Alders, Marcel M.A.M. Mannens, Bekim Sadikovic, Mieke M. van Haelst, Peter Henneman

“…Summary: Neurodevelopmental disorder with or without autism or seizures (NEDAUS) is a neurodevelopmental disorder characterized by global developmental delay, speech delay, seizures, autistic features, and/or behavior abnormalities. …”
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Peran Caregiver dalam Pemberian Metode Visual Support pada Individu ASD by Hanun Nurfadiyah, Tri Kurniati Ambarini

“…Faktor pendukung yang ditemukan adalah informasi yang dimiliki tentang autisme dan dukungan visual, dukungan sosial, dan pengalaman. …”
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Promoção de saúde mental na comunidade: análise conceptual by Ana Pacheco, Jorge Martins, Mário Simões

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