{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T11:40:20Z","timestamp":1787312420094,"version":"build-2736575974"},"reference-count":36,"publisher":"Oxford University Press (OUP)","issue":"10","license":[{"start":{"date-parts":[[2023,5,15]],"date-time":"2023-05-15T00:00:00Z","timestamp":1684108800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Miguel Servet"},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["CP22\/00141"],"award-info":[{"award-number":["CP22\/00141"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,10,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>In utero exposure to maternal antibodies targeting the fetal acetylcholine receptor isoform (fAChR) can impair fetal movement, leading to arthrogryposis multiplex congenita (AMC). Fetal AChR antibodies have also been implicated in apparently rare, milder myopathic presentations termed fetal acetylcholine receptor inactivation syndrome (FARIS). The full spectrum associated with fAChR antibodies is still poorly understood. Moreover, since some mothers have no myasthenic symptoms, the condition is likely underreported, resulting in failure to implement effective preventive strategies.<\/jats:p>\n                  <jats:p>Here we report clinical and immunological data from a multicentre cohort (n = 46 cases) associated with maternal fAChR antibodies, including 29 novel and 17 previously reported with novel follow-up data. Remarkably, in 50% of mothers there was no previously established myasthenia gravis (MG) diagnosis. All mothers (n = 30) had AChR antibodies and, when tested, binding to fAChR was often much greater than that to the adult AChR isoform. Offspring death occurred in 11\/46 (23.9%) cases, mainly antenatally due to termination of pregnancy prompted by severe AMC (7\/46, 15.2%), or during early infancy, mainly from respiratory failure (4\/46, 8.7%). Weakness, contractures, bulbar and respiratory involvement were prominent early in life, but improved gradually over time. Facial (25\/34; 73.5%) and variable peripheral weakness (14\/32; 43.8%), velopharyngeal insufficiency (18\/24; 75%) and feeding difficulties (16\/36; 44.4%) were the most common sequelae in long-term survivors. Other unexpected features included hearing loss (12\/32; 37.5%), diaphragmatic paresis (5\/35; 14.3%), CNS involvement (7\/40; 17.5%) and pyloric stenosis (3\/37; 8.1%). Oral salbutamol used empirically in 16\/37 (43.2%) offspring resulted in symptom improvement in 13\/16 (81.3%).<\/jats:p>\n                  <jats:p>Combining our series with all previously published cases, we identified 21\/85 mothers treated with variable combinations of immunotherapies (corticosteroids\/intravenous immunoglobulin\/plasmapheresis) during pregnancy either for maternal MG symptom control (12\/21 cases) or for fetal protection (9\/21 cases). Compared to untreated pregnancies (64\/85), maternal treatment resulted in a significant reduction in offspring deaths (P &amp;lt; 0.05) and other complications, with treatment approaches involving intravenous immunoglobulin\/ plasmapheresis administered early in pregnancy most effective.<\/jats:p>\n                  <jats:p>We conclude that presentations due to in utero exposure to maternal (fetal) AChR antibodies are more common than currently recognized and may mimic a wide range of neuromuscular disorders. Considering the wide clinical spectrum and likely diversity of underlying mechanisms, we propose \u2018fetal acetylcholine receptor antibody-related disorders\u2019 (FARAD) as the most accurate term for these presentations. FARAD is vitally important to recognize, to institute appropriate management strategies for affected offspring and to improve outcomes in future pregnancies. Oral salbutamol is a symptomatic treatment option in survivors.<\/jats:p>","DOI":"10.1093\/brain\/awad153","type":"journal-article","created":{"date-parts":[[2023,5,15]],"date-time":"2023-05-15T13:26:52Z","timestamp":1684157212000},"page":"4233-4246","source":"Crossref","is-referenced-by-count":34,"title":["The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD)"],"prefix":"10.1093","volume":"146","author":[{"given":"Nicholas M","family":"Allen","sequence":"first","affiliation":[{"name":"Department of Paediatrics, School of Medicine, University of Galway, Galway H91 V4AY, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"O\u2019Rahelly","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, School of Medicine, University of Galway, Galway H91 V4AY, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Eymard","sequence":"additional","affiliation":[{"name":"Centre de r\u00e9f\u00e9rence des maladies neuromusculaires Nord\/Est\/Ile-de-France, Unit\u00e9 Pathologie Neuromusculaire, B\u00e2timent Babinski, G.H. Pitie-Salpetriere , 75013 Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mondher","family":"Chouchane","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Centre Hospitalier Universitaire de Dijon , Dijon , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Hahn","sequence":"additional","affiliation":[{"name":"Department of Child Neurology, University Hospital Giessen , 35392 Giessen , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerry","family":"Kearns","sequence":"additional","affiliation":[{"name":"Department of Maxillofacial Surgery, St. James Hospital , Dublin D08 NHY1 , Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dae-Seong","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Neurology, Pusan National University, School of Medicine , Pusan 50612 , South Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shin Yun","family":"Byun","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pusan National University, School of Medicine , Pusan 50612 , South Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cam-Tu Emilie","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Pediatric Neurology, CHU Sainte-Justine and D\u00e9partement de neurosciences, Universit\u00e9 de Montr\u00e9al , QC, H3T 1C5 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrike","family":"Schara-Schmidt","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg, Essen , DE-45147 Essen , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heike","family":"K\u00f6lbel","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg, Essen , DE-45147 Essen , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adela Della","family":"Marina","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg, Essen , DE-45147 Essen , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christiane","family":"Schneider-Gold","sequence":"additional","affiliation":[{"name":"Department of Neurology, St Josef Hospital, Ruhr-University Bochum , 44791 Bochum , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathryn","family":"Roefke","sequence":"additional","affiliation":[{"name":"Klinik f\u00fcr Kinder- und Jugendmedizin , 99089 Erfurt , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Thieme","sequence":"additional","affiliation":[{"name":"Department of Neurology, Clinical Neurophysiology and Neurorehabilitation, St. Georg Klinikum , 99817 Eisenach , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Van den Bergh","sequence":"additional","affiliation":[{"name":"Neuromuscular Reference Centre UCL St-Luc, University Hospital Saint-Luc , 1200 Brussels , Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gloria","family":"Avalos","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of Galway , Galway H91 V4AY , Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rodrigo","family":"\u00c1lvarez-Velasco","sequence":"additional","affiliation":[{"name":"Unitat Patologia Neuromuscular, Servei Neurologia Hospital Santa Creu i Sant Pau , 08025 Barcelona , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Natera-de Benito","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit, Hospital Sant Joan de D\u00e9u , 08950 Barcelona , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Man Hin Mark","family":"Cheng","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital , Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wing Ki","family":"Chan","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital , Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hoi Shan","family":"Wan","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital , Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary Ann","family":"Thomas","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Pediatrics, Cumming School of Medicine, University of Calgary, Alberta Children\u2019s Hospital , Calgary, AB T3B 6A8 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren","family":"Borch","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Pediatrics, Cumming School of Medicine, University of Calgary, Alberta Children\u2019s Hospital , Calgary, AB T3B 6A8 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Lauzon","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Pediatrics, Cumming School of Medicine, University of Calgary, Alberta Children\u2019s Hospital , Calgary, AB T3B 6A8 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0111-7281","authenticated-orcid":false,"given":"Cornelia","family":"Kornblum","sequence":"additional","affiliation":[{"name":"Department of Neurology, University Hospital Bonn , 53127 Bonn , Germany"},{"name":"Center for Rare Diseases, University Hospital Bonn , 53127 Bonn , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jens","family":"Reimann","sequence":"additional","affiliation":[{"name":"Department of Neurology, University Hospital Bonn , 53127 Bonn , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Mueller","sequence":"additional","affiliation":[{"name":"Department of Neonatology and Pediatric Intensive Care, University Hospital Bonn , 53127, Bonn , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Kuntzer","sequence":"additional","affiliation":[{"name":"Nerve-Muscle Unit, Department of Clinical Neurosciences, CHUV, University of Lausanne , 1011 Lausanne , Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fiona","family":"Norwood","sequence":"additional","affiliation":[{"name":"Department of Neurology, King\u2019s College Hospital , London SE5 9RS , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sithara","family":"Ramdas","sequence":"additional","affiliation":[{"name":"MDUK Neuromuscular Centre, Department of Paediatrics, University of Oxford , Oxford OX3 9DU , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leslie W","family":"Jacobson","sequence":"additional","affiliation":[{"name":"Nuffield Department of Clinical Neurosciences, Oxford University , Oxford OX3 9DU , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaobo","family":"Jie","sequence":"additional","affiliation":[{"name":"Nuffield Department of Clinical Neurosciences, Oxford University , Oxford OX3 9DU , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miguel A","family":"Fernandez-Garcia","sequence":"additional","affiliation":[{"name":"Department of Children\u2019s Neurosciences, Evelina London Children's Hospital, Guy\u2019s & St. Thomas\u2019 Hospital NHS Foundation Trust , London SE1 7EH , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Wraige","sequence":"additional","affiliation":[{"name":"Department of Children\u2019s Neurosciences, Evelina London Children's Hospital, Guy\u2019s & St. Thomas\u2019 Hospital NHS Foundation Trust , London SE1 7EH , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ming","family":"Lim","sequence":"additional","affiliation":[{"name":"Department of Children\u2019s Neurosciences, Evelina London Children's Hospital, Guy\u2019s & St. Thomas\u2019 Hospital NHS Foundation Trust , London SE1 7EH , UK"},{"name":"Department of Women and Children\u2019s Health, School of Life Course Sciences (SoLCS), King\u2019s College London , London SE1 9NH , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean Pierre","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Children\u2019s Neurosciences, Evelina London Children's Hospital, Guy\u2019s & St. Thomas\u2019 Hospital NHS Foundation Trust , London SE1 7EH , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4054-2838","authenticated-orcid":false,"given":"Kristl G","family":"Claeys","sequence":"additional","affiliation":[{"name":"Department of Neurology, University Hospitals Leuven , 3000 Leuven , Belgium"},{"name":"Laboratory for Muscle Diseases and Neuropathies, Department of Neurosciences, KU Leuven, and Leuven Brain Institute (LBI) , 3000 Leuven , Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Selma","family":"Aktas","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Department of Pediatrics, Division of Neonatology, Ac\u0131badem University , 34752 Istanbul , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maryam","family":"Oskoui","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, McGill University , Montreal, QC H4A 3J1 , Canada"},{"name":"Department of Neurology and Neurosurgery, McGill University , Montreal, QC H4A 3J1 , Canada"},{"name":"Centre for Outcomes Research and Evaluation, Research Institute McGill University Health Centre , Montreal, QC H3H 2R9 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yael","family":"Hacohen","sequence":"additional","affiliation":[{"name":"Queen Square MS Centre, UCL Queen Square Institute of Neurology, Faculty of Brain Sciences, University College London , London WC1N 3BG , UK"},{"name":"Department of Neurology, Great Ormond Street Hospital for Children , London WC1N 3JH , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ameneh","family":"Masud","sequence":"additional","affiliation":[{"name":"Department of Neurology, Columbia University Irving Medical Center , New York, NY 10032-3791 , USA"},{"name":"Department of Pediatrics, Columbia University Irving Medical Center , New York, NY 10032-3791 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M Isabel","family":"Leite","sequence":"additional","affiliation":[{"name":"Nuffield Department of Clinical Neurosciences, Oxford University , Oxford OX3 9DU , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacqueline","family":"Palace","sequence":"additional","affiliation":[{"name":"Nuffield Department of Clinical Neurosciences, Oxford University , Oxford OX3 9DU , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Darryl","family":"De Vivo","sequence":"additional","affiliation":[{"name":"Department of Neurology, Columbia University Irving Medical Center , New York, NY 10032-3791 , USA"},{"name":"Department of Pediatrics, Columbia University Irving Medical Center , New York, NY 10032-3791 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Vincent","sequence":"additional","affiliation":[{"name":"Nuffield Department of Clinical Neurosciences, Oxford University , Oxford OX3 9DU , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heinz","family":"Jungbluth","sequence":"additional","affiliation":[{"name":"Department of Children\u2019s Neurosciences, Evelina London Children's Hospital, Guy\u2019s & St. Thomas\u2019 Hospital NHS Foundation Trust , London SE1 7EH , UK"},{"name":"Randall Centre for Cell and Molecular Biophysics, Muscle Signalling Section, Faculty of Life Sciences and Medicine (FoLSM), King\u2019s College London , London SE1 1YR , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,5,15]]},"reference":[{"key":"2023100302120866400_awad153-B1","doi-asserted-by":"crossref","DOI":"10.3389\/fnmol.2020.581097","article-title":"The structure, function, and physiology of the fetal and adult acetylcholine receptor in muscle","volume":"13","author":"Cetin","year":"2020","journal-title":"Front Mol 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