{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T13:43:42Z","timestamp":1792417422117,"version":"4.4.0"},"reference-count":31,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2021,6,9]],"date-time":"2021-06-09T00:00:00Z","timestamp":1623196800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:sec><jats:title>Aim<\/jats:title><jats:p>To delineate the speech and language phenotype of a cohort of individuals with <jats:italic>FOXP1<\/jats:italic>\u2010related disorder.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>We administered a standardized test battery to examine speech and oral motor function, receptive and expressive language, non\u2010verbal cognition, and adaptive behaviour. Clinical history and cognitive assessments were analysed together with speech and language findings.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Twenty\u2010nine patients (17 females, 12 males; mean age 9y 6mo; median age 8y [range 2y 7mo\u201333y]; SD 6y 5mo) with pathogenic <jats:italic>FOXP1<\/jats:italic> variants (14 truncating, three missense, three splice site, one in\u2010frame deletion, eight cytogenic deletions; 28 out of 29 were de novo variants) were studied. All had atypical speech, with 21 being verbal and eight minimally verbal. All verbal patients had dysarthric and apraxic features, with phonological deficits in most (14 out of 16). Language scores were low overall. In the 21 individuals who carried truncating or splice site variants and small deletions, expressive abilities were relatively preserved compared with comprehension.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p><jats:italic>FOXP1<\/jats:italic>\u2010related disorder is characterized by a complex speech and language phenotype with prominent dysarthria, broader motor planning and programming deficits, and linguistic\u2010based phonological errors. Diagnosis of the speech phenotype associated with <jats:italic>FOXP1<\/jats:italic>\u2010related dysfunction will inform early targeted therapy.<\/jats:p><\/jats:sec><jats:sec><jats:label\/><jats:p>\n<jats:boxed-text content-type=\"box\" position=\"anchor\"><jats:caption><jats:title>What this paper adds<\/jats:title><\/jats:caption><jats:p>\n<jats:list list-type=\"bullet\">\n\n<jats:list-item><jats:p>Individuals with <jats:italic>FOXP1<\/jats:italic>\u2010related disorder have a complex speech and language phenotype.<\/jats:p><\/jats:list-item>\n\n<jats:list-item><jats:p>Dysarthria, which impairs intelligibility, is the dominant feature of the speech profile.<\/jats:p><\/jats:list-item>\n\n<jats:list-item><jats:p>No participants were receiving speech therapy for dysarthria, but were good candidates for therapy<\/jats:p><\/jats:list-item>\n\n<jats:list-item><jats:p>Features of speech apraxia occur alongside persistent phonological errors.<\/jats:p><\/jats:list-item>\n\n<jats:list-item><jats:p>Language abilities are low overall; however, expressive language is a relative strength.<\/jats:p><\/jats:list-item>\n<\/jats:list>\n<\/jats:p><\/jats:boxed-text>\n<\/jats:p><\/jats:sec>","DOI":"10.1111\/dmcn.14955","type":"journal-article","created":{"date-parts":[[2021,6,10]],"date-time":"2021-06-10T20:32:59Z","timestamp":1623357179000},"page":"1417-1426","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":44,"title":["Severe speech impairment is a distinguishing feature of <i>FOXP1<\/i>\u2010related disorder"],"prefix":"10.1111","volume":"63","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7730-1205","authenticated-orcid":false,"given":"Ruth O","family":"Braden","sequence":"first","affiliation":[{"name":"Murdoch Children\u2019s Research Institute Parkville VIC Australia"},{"name":"Department of Audiology and Speech Pathology and Department of Paediatrics 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