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Recent evidence suggests a moderate genetic contribution for these rare and severe speech disorders. To date, however, no studies have examined genetic diagnostic yield for childhood apraxia of speech (CAS) and dysarthria in a clinical setting. Here, we used a clinically accredited genomics pipeline to investigate genetic diagnostic yield and variables predictive of a genetic diagnosis in a tertiary hospital speech clinic. A cohort of 153 children (range 2;7-16;5 years, 42 female) ascertained for motor speech disorder were assessed by a clinical geneticist and speech pathologist and underwent chromosomal microarray, Fragile X and exome sequencing. Odds ratios identified predictors of genetic diagnosis. 44\/153 (29%, 15 female) had pathogenic variants (30 de novo), encompassing monogenic conditions (n\u2009=\u200935) and copy number variants (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u20099) across 38 distinct disorders. Delayed walking, fine and gross motor disorder, receptive language impairment and\/or cognitive impairment, and dysmorphism were associated with a genetic diagnosis. The presence of CAS and dysarthria was more commonly associated with a genetic diagnosis than CAS alone. Autism spectrum disorder was less commonly associated with a genetic diagnosis. No child had a Fragile X diagnosis. The clinical genetic diagnostic yield for motor speech disorders is comparable to epilepsy and cerebral palsy, conditions where genetic testing is routine in most centres, unlike for motor speech disorders. Children with motor speech disorder with co-occurring motor, language and\/or learning deficits, should be prioritised for genomic testing.\n                  <\/jats:p>","DOI":"10.1038\/s41431-025-01993-9","type":"journal-article","created":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T16:23:13Z","timestamp":1768321393000},"page":"639-648","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Childhood motor speech disorders: who to prioritise for genetic testing"],"prefix":"10.1038","volume":"34","author":[{"given":"Halianna","family":"Van Niel","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9017-3455","authenticated-orcid":false,"given":"Mariana","family":"Lauretta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"Baker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorraine","family":"O\u2019Donnell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte","family":"Boulton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Celia","family":"Brenchley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Coman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evyenia","family":"Michellis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Himanshu","family":"Goel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Geoff","family":"Thompson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Webster","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2314-9812","authenticated-orcid":false,"given":"Georgia","family":"Paxton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zornitza","family":"Stark","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2311-2174","authenticated-orcid":false,"given":"Ingrid E.","family":"Scheffer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2739-0515","authenticated-orcid":false,"given":"Michael S.","family":"Hildebrand","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7191-8511","authenticated-orcid":false,"given":"David J.","family":"Amor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1147-7405","authenticated-orcid":false,"given":"Angela T.","family":"Morgan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,1,13]]},"reference":[{"key":"1993_CR1","doi-asserted-by":"publisher","first-page":"200","DOI":"10.1016\/j.jpeds.2017.02.059","volume":"185","author":"A Morgan","year":"2017","unstructured":"Morgan A, Ttofari Eecen K, Pezic A, Brommeyer K, Mei C, Eadie P, et al. Who to refer for speech therapy at 4 years of age versus who to \u201cWatch and Wait\u201d? J Pediatr. 2017;185:200\u20134.e1. https:\/\/doi.org\/10.1016\/j.jpeds.2017.02.059.","journal-title":"J Pediatr"},{"key":"1993_CR2","doi-asserted-by":"publisher","first-page":"329","DOI":"10.1001\/jama.2023.26952","volume":"331","author":"MJ Barry","year":"2024","unstructured":"US Preventative Service Task Force, Barry MJ, Nicholson WK, Silverstein M, Chelmow D, Coker TR, et al. Screening for speech and language delay and disorders in children: US Preventive Services Task Force Recommendation Statement. JAMA. 2024;331:329\u201334. https:\/\/doi.org\/10.1001\/jama.2023.26952.","journal-title":"JAMA"},{"key":"1993_CR3","doi-asserted-by":"publisher","first-page":"1281","DOI":"10.1038\/s41380-024-02409-8","volume":"29","author":"AT Morgan","year":"2024","unstructured":"Morgan AT, Amor DJ, St John MD, Scheffer IE, Hildebrand MS. Genetic architecture of childhood speech disorder: a review. 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Written informed consent was obtained from all parents or legal guardians for their child to take part in our study and to publish their data. We have archived this data in our REDCap database held at the Murdoch Children\u2019s Research Institute at the Royal Children\u2019s Hospital campus.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}}]}}