{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T19:21:22Z","timestamp":1790018482189,"version":"4.0.1"},"reference-count":53,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2024,10,16]],"date-time":"2024-10-16T00:00:00Z","timestamp":1729036800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/100006792","name":"The Hartwell Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006792","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Individual Biomedical Research Award"},{"DOI":"10.13039\/100000065","name":"National Institute for Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["K02 NS112600"],"award-info":[{"award-number":["K02 NS112600"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006458","name":"Children\u2019s Hospital of Philadelphia","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006458","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Epilepsy NeuroGenetics Initiative"},{"name":"EuroEPINOMICS-Rare Epilepsy Syndrome"},{"DOI":"10.13039\/501100001659","name":"Consortium by the German Research Foundation","doi-asserted-by":"publisher","award":["HE5415\/3-1"],"award-info":[{"award-number":["HE5415\/3-1"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"name":"EuroEPINOMICS"},{"DOI":"10.13039\/501100000782","name":"European Science Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000782","id-type":"DOI","asserted-by":"publisher"}]},{"name":"DFG\/FNR INTER Research Unit","award":["We4896\/4-570"],"award-info":[{"award-number":["We4896\/4-570"]}]},{"name":"DFG\/FNR INTER Research Unit","award":["He5415\/7-1"],"award-info":[{"award-number":["He5415\/7-1"]}]},{"name":"Genomics Research and Innovation Network"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,2,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Speech and language disorders are known to have a substantial genetic contribution. Although frequently examined as components of other conditions, research on the genetic basis of linguistic differences as separate phenotypic subgroups has been limited so far.<\/jats:p>\n               <jats:p>Here, we performed an in-depth characterization of speech and language disorders in 52 143 individuals, reconstructing clinical histories using a large-scale data-mining approach of the electronic medical records from an entire large paediatric healthcare network.<\/jats:p>\n               <jats:p>The reported frequency of these disorders was the highest between 2 and 5 years old and spanned a spectrum of 26 broad speech and language diagnoses. We used natural language processing to assess the degree to which clinical diagnoses in full-text notes were reflected in ICD-10 diagnosis codes. We found that aphasia and speech apraxia could be retrieved easily through ICD-10 diagnosis codes, whereas stuttering as a speech phenotype was coded in only 12% of individuals through appropriate ICD-10 codes. We found significant comorbidity of speech and language disorders in neurodevelopmental conditions (30.31%) and, to a lesser degree, with epilepsies (6.07%) and movement disorders (2.05%). The most common genetic disorders retrievable in our analysis of electronic medical records were STXBP1 (n = 21), PTEN (n = 20) and CACNA1A (n = 18). When assessing associations of genetic diagnoses with specific linguistic phenotypes, we observed associations of STXBP1 and aphasia (P = 8.57 \u00d7 10\u22127, 95% confidence interval = 18.62\u2013130.39) and MYO7A with speech and language development delay attributable to hearing loss (P = 1.24 \u00d7 10\u22125, 95% confidence interval = 17.46\u2013infinity). Finally, in a sub-cohort of 726 individuals with whole-exome sequencing data, we identified an enrichment of rare variants in neuronal receptor pathways, in addition to associations of UQCRC1 and KIF17 with expressive aphasia, MROH8 and BCHE with poor speech, and USP37, SLC22A9 and UMODL1 with aphasia.<\/jats:p>\n               <jats:p>In summary, our study outlines the landscape of paediatric speech and language disorders, confirming the phenotypic complexity of linguistic traits and novel genotype\u2013phenotype associations. Subgroups of paediatric speech and language disorders differ significantly with respect to the composition of monogenic aetiologies.<\/jats:p>","DOI":"10.1093\/brain\/awae264","type":"journal-article","created":{"date-parts":[[2024,10,16]],"date-time":"2024-10-16T14:32:22Z","timestamp":1729089142000},"page":"663-674","source":"Crossref","is-referenced-by-count":10,"title":["The clinical and genetic spectrum of paediatric speech and language disorders"],"prefix":"10.1093","volume":"148","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7290-4939","authenticated-orcid":false,"given":"Jan H","family":"Magielski","sequence":"first","affiliation":[{"name":"Division of Neurology, Children\u2019s Hospital of Philadelphia , Philadelphia, PA 19104 ,","place":["USA"]},{"name":"The Epilepsy NeuroGenetics Initiative (ENGIN), Children\u2019s Hospital of Philadelphia , Philadelphia, PA 19104 ,","place":["USA"]},{"name":"Department of Biomedical and Health Informatics (DBHi), Children\u2019s Hospital of Philadelphia , Philadelphia, PA 19146 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0834-0750","authenticated-orcid":false,"given":"Sarah M","family":"Ruggiero","sequence":"additional","affiliation":[{"name":"Division of Neurology, Children\u2019s Hospital of Philadelphia , Philadelphia, PA 19104 ,","place":["USA"]},{"name":"The Epilepsy NeuroGenetics Initiative (ENGIN), Children\u2019s Hospital of Philadelphia , Philadelphia, PA 19104 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0205-0648","authenticated-orcid":false,"given":"Julie","family":"Xian","sequence":"additional","affiliation":[{"name":"Division of Neurology, Children\u2019s Hospital of Philadelphia , Philadelphia, PA 19104 ,","place":["USA"]},{"name":"The Epilepsy NeuroGenetics Initiative (ENGIN), Children\u2019s Hospital of Philadelphia , Philadelphia, PA 19104 ,","place":["USA"]},{"name":"Department of Biomedical and Health Informatics (DBHi), Children\u2019s Hospital of Philadelphia , Philadelphia, PA 19146 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7415-801X","authenticated-orcid":false,"given":"Shridhar","family":"Parthasarathy","sequence":"additional","affiliation":[{"name":"Division of Neurology, Children\u2019s Hospital of Philadelphia , Philadelphia, PA 19104 ,","place":["USA"]},{"name":"The Epilepsy NeuroGenetics Initiative (ENGIN), Children\u2019s Hospital of Philadelphia , Philadelphia, PA 19104 ,","place":["USA"]},{"name":"Department of Biomedical and Health Informatics (DBHi), Children\u2019s Hospital of Philadelphia , Philadelphia, PA 19146 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6408-0906","authenticated-orcid":false,"given":"Peter D","family":"Galer","sequence":"additional","affiliation":[{"name":"Division of Neurology, Children\u2019s Hospital of Philadelphia , Philadelphia, PA 19104 ,","place":["USA"]},{"name":"The Epilepsy NeuroGenetics Initiative (ENGIN), Children\u2019s Hospital of Philadelphia , Philadelphia, PA 19104 ,","place":["USA"]},{"name":"Department of Biomedical and Health Informatics (DBHi), Children\u2019s Hospital of Philadelphia , Philadelphia, PA 19146 ,","place":["USA"]},{"name":"Center for Neuroengineering and Therapeutics, University of Pennsylvania , Philadelphia, PA 19104 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2518-6505","authenticated-orcid":false,"given":"Shiva","family":"Ganesan","sequence":"additional","affiliation":[{"name":"Division of Neurology, Children\u2019s Hospital of Philadelphia , Philadelphia, PA 19104 ,","place":["USA"]},{"name":"The Epilepsy NeuroGenetics Initiative (ENGIN), Children\u2019s Hospital of Philadelphia , Philadelphia, PA 19104 ,","place":["USA"]},{"name":"Department of Biomedical and Health Informatics (DBHi), Children\u2019s Hospital of Philadelphia , Philadelphia, PA 19146 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amanda","family":"Back","sequence":"additional","affiliation":[{"name":"Division of Neurology, Children\u2019s Hospital of Philadelphia , Philadelphia, PA 19104 ,","place":["USA"]},{"name":"The Epilepsy NeuroGenetics Initiative (ENGIN), Children\u2019s Hospital of Philadelphia , Philadelphia, PA 19104 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9724-0403","authenticated-orcid":false,"given":"Jillian L","family":"McKee","sequence":"additional","affiliation":[{"name":"Division of Neurology, Children\u2019s Hospital of Philadelphia , Philadelphia, PA 19104 ,","place":["USA"]},{"name":"The Epilepsy NeuroGenetics Initiative (ENGIN), Children\u2019s Hospital of Philadelphia , Philadelphia, PA 19104 ,","place":["USA"]},{"name":"Department of Biomedical and Health Informatics (DBHi), Children\u2019s Hospital of Philadelphia , Philadelphia, PA 19146 ,","place":["USA"]},{"name":"Department of Neurology, University of Pennsylvania Perelman School of Medicine , Philadelphia, PA 19104 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-9131-4847","authenticated-orcid":false,"given":"Ian","family":"McSalley","sequence":"additional","affiliation":[{"name":"Division of Neurology, Children\u2019s Hospital of Philadelphia , Philadelphia, PA 19104 ,","place":["USA"]},{"name":"The Epilepsy NeuroGenetics Initiative (ENGIN), Children\u2019s Hospital of Philadelphia , Philadelphia, PA 19104 ,","place":["USA"]},{"name":"Department of Biomedical and Health Informatics (DBHi), Children\u2019s Hospital of Philadelphia , Philadelphia, PA 19146 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4402-398X","authenticated-orcid":false,"given":"Alexander K","family":"Gonzalez","sequence":"additional","affiliation":[{"name":"Department of Biomedical and Health Informatics (DBHi), Children\u2019s Hospital of Philadelphia , Philadelphia, PA 19146 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1147-7405","authenticated-orcid":false,"given":"Angela","family":"Morgan","sequence":"additional","affiliation":[{"name":"Murdoch Children\u2019s Research Institute , Parkville, VIC 3052 ,","place":["Australia"]},{"name":"Department of Audiology and Speech Pathology, University of Melbourne , Parkville, VIC 3052 ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph","family":"Donaher","sequence":"additional","affiliation":[{"name":"Center for Childhood Communication, Children\u2019s Hospital of Philadelphia , Philadelphia, PA 19104 ,","place":["USA"]},{"name":"Department of Otorhinolaryngology, University of Pennsylvania Perelman School of Medicine , Philadelphia, PA 19104 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8486-0558","authenticated-orcid":false,"given":"Ingo","family":"Helbig","sequence":"additional","affiliation":[{"name":"Division of Neurology, Children\u2019s Hospital of Philadelphia , Philadelphia, PA 19104 ,","place":["USA"]},{"name":"The Epilepsy NeuroGenetics Initiative (ENGIN), Children\u2019s Hospital of Philadelphia , Philadelphia, PA 19104 ,","place":["USA"]},{"name":"Department of Biomedical and Health Informatics (DBHi), Children\u2019s Hospital of Philadelphia , Philadelphia, PA 19146 ,","place":["USA"]},{"name":"Department of Neurology, University of Pennsylvania Perelman School of Medicine , Philadelphia, PA 19104 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