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Health and development (cognitive, motor, social domains) were examined, including speech and language outcomes with the first cross-linguistic analysis of English and German.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Speech disorders were prevalent (23\/25, 92%) and CAS was most common (22\/25, 88%), with similar speech presentations across English and German. Speech was still impaired in adulthood, and some speech sounds (eg, \u2018th\u2019, \u2018r\u2019, \u2018ch\u2019, \u2018j\u2019) were never acquired. Language impairments (21\/25, 84%) ranged from mild to severe. Comorbidities included feeding difficulties in infancy (10\/26, 38%), fine (13\/26, 50%) and gross (13\/26, 50%) motor impairment, anxiety (5\/27, 19%), depression (6\/27, 22%) and sleep disturbance (10\/24, 42%). Physical features were common (22\/27, 81%) but with no consistent pattern. Cognition ranged from average to mildly impaired and was incongruent with language ability; for example, seven participants with severe language disorder had average non-verbal cognition.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Although we identify an increased prevalence of conditions like anxiety, depression and sleep disturbance, we confirm that the consequences of <jats:italic>FOXP2<\/jats:italic> dysfunction remain relatively specific to speech disorder, as compared with other recently identified monogenic conditions associated with CAS. Thus, our findings reinforce that <jats:italic>FOXP2<\/jats:italic> provides a valuable entry point for examining the neurobiological bases of speech disorder.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg-2022-108734","type":"journal-article","created":{"date-parts":[[2022,11,3]],"date-time":"2022-11-03T13:20:37Z","timestamp":1667481637000},"page":"597-607","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":35,"title":["In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting <i>FOXP2<\/i>"],"prefix":"10.1136","volume":"60","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2822-6522","authenticated-orcid":false,"given":"Lottie D","family":"Morison","sequence":"first","affiliation":[{"name":"Speech and Language, Murdoch Children's Research Institute, Melbourne, Victoria, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth","family":"Meffert","sequence":"additional","affiliation":[{"name":"SRH University of Applied Health Sciences, Gera, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miriam","family":"Stampfer","sequence":"additional","affiliation":[{"name":"Medical Genetics Center, Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene","family":"Steiner-Wilke","sequence":"additional","affiliation":[{"name":"Centre for Cleft Palate & Craniofacial Malformations, Tuebingen University Hospital, Tubingen, Germany"},{"name":"Department of Paediatric Neurology and Developmental Medicine, University Children\u2019s Hospital Tuebingen, Tuebingen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brigitte","family":"Vollmer","sequence":"additional","affiliation":[{"name":"Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK"},{"name":"Paediatric Neurology, Southampton Children\u2019s Hospital, University Hospital Southampton NHS Foundation Trust, Southampton, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katrin","family":"Schulze","sequence":"additional","affiliation":[{"name":"Department of Psychology, Heidelberg University, Heidelberg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tracy","family":"Briggs","sequence":"additional","affiliation":[{"name":"Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, School of Biological Sciences, Manchester Academic Health Science Centre, University of Manchester, Manchester, UK"},{"name":"Manchester Centre for Genomic Medicine, St Mary\u2019s Hospital, Manchester University NHS Foundation Trust, Manchester, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruth","family":"Braden","sequence":"additional","affiliation":[{"name":"Speech and 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Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angelika","family":"Riess","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics, University of T\u00fcbingen, T\u00fcbingen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frederique","family":"Liegeois","sequence":"additional","affiliation":[{"name":"Great Ormond Street Institute of Child Health, University College London, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A","family":"Koolen","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center (Radboudumc), Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David J","family":"Amor","sequence":"additional","affiliation":[{"name":"Speech and Language, Murdoch Children's Research Institute, Melbourne, Victoria, Australia"},{"name":"Department of Pediatrics, Royal Children's Hospital, Parkville, Victoria, Australia"},{"name":"Department of Pediatrics, The University of Melbourne, Melbourne, Victoria, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tjitske","family":"Kleefstra","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center (Radboudumc), Nijmegen, The Netherlands"},{"name":"Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3132-1996","authenticated-orcid":false,"given":"Simon E","family":"Fisher","sequence":"additional","affiliation":[{"name":"Language and Genetics, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands"},{"name":"Donders Centre for Neuroscience, Donders Institute for 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