{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T08:33:15Z","timestamp":1740126795883,"version":"3.37.3"},"reference-count":15,"publisher":"Georg Thieme Verlag KG","issue":"06","funder":[{"DOI":"10.13039\/501100003196","name":"Italian Ministry of Health","doi-asserted-by":"crossref","award":["RF2016-02361560"],"award-info":[{"award-number":["RF2016-02361560"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100003196","name":"Italian Ministry of Health","doi-asserted-by":"crossref","award":["RC 5\u2009\u00d7\u20091000"],"award-info":[{"award-number":["RC 5\u2009\u00d7\u20091000"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropediatrics"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Childhood apraxia of speech (CAS) is a pediatric motor speech disorder. The genetic etiology of this complex neurological condition is not yet well understood, although some genes have been linked to it. We describe the case of a boy with a severe and persistent motor speech disorder, consistent with CAS, and a coexisting language impairment.<\/jats:p><jats:p>Whole exome sequencing in our case revealed a de novo and splicing mutation in the CSMD1 gene.<\/jats:p>","DOI":"10.1055\/s-0043-1771033","type":"journal-article","created":{"date-parts":[[2023,8,7]],"date-time":"2023-08-07T22:46:06Z","timestamp":1691448366000},"page":"407-411","source":"Crossref","is-referenced-by-count":0,"title":["Evidence for a Pathogenic Role of CSMD1 in Childhood Apraxia of Speech"],"prefix":"10.1055","volume":"54","author":[{"given":"Daniela","family":"Formicola","sequence":"additional","affiliation":[{"name":"Department of Neurobiology and Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irina","family":"Podda","sequence":"additional","affiliation":[{"name":"Parole al Centro Studio di Logopedia, Genoa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marilena","family":"Pantaleo","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4639-8144","authenticated-orcid":false,"given":"Elena","family":"Andreucci","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diego","family":"Lopergolo","sequence":"additional","affiliation":[{"name":"Department of Neurobiology and Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabrina","family":"Giglio","sequence":"additional","affiliation":[{"name":"Department of Medical Sciences and Public Health, Medical Genetics Unit, University of Cagliari, Cagliari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Filippo Maria","family":"Santorelli","sequence":"additional","affiliation":[{"name":"Department of Neurobiology and Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy"},{"name":"Department of Developmental Neuroscience, IRCCS \u201cStella Maris Foundation\u201d Scientific Institute, Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Chilosi","sequence":"additional","affiliation":[{"name":"Department of Developmental Neuroscience, IRCCS \u201cStella Maris Foundation\u201d Scientific Institute, Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2023,8,7]]},"reference":[{"issue":"02","key":"ref2","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1044\/1092-4388(2010\/10-0068)","article-title":"Prevalence and phenotype of childhood apraxia of speech in youth with galactosemia","volume":"54","author":"L D Shriberg","year":"2011","journal-title":"J Speech Lang Hear Res"},{"issue":"02","key":"ref3","doi-asserted-by":"crossref","first-page":"313","DOI":"10.3390\/jpm12020313","article-title":"Differences and commonalities in children with childhood apraxia of speech and comorbid neurodevelopmental disorders: a multidimensional perspective","volume":"12","author":"A M Chilosi","year":"2022","journal-title":"J Pers Med"},{"issue":"04","key":"ref4","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1007\/s00439-020-02231-6","article-title":"Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes","volume":"140","author":"A Provenzano","year":"2021","journal-title":"Hum Genet"},{"volume-title":"Verbal Motor Production Assessment for Children (VMPAC)","year":"1999","author":"D A Hayden","key":"ref5"},{"volume-title":"Cipriani","year":"2005","author":"A M Chilosi","key":"ref6"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/j.ridd.2019.03.005","article-title":"Which linguistic measures distinguish transient from persistent language problems in Late Talkers from 2 to 4 years? 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