{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T06:45:04Z","timestamp":1777963504509,"version":"3.51.4"},"reference-count":27,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2022,7,27]],"date-time":"2022-07-27T00:00:00Z","timestamp":1658880000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["#1116976"],"award-info":[{"award-number":["#1116976"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pathogenic <jats:italic>KAT6A<\/jats:italic> variants cause syndromic neurodevelopmental disability. \u201cSpeech delay\u201d is reported, yet none have examined specific speech and language features of KAT6A syndrome. Here we phenotype the communication profile of individuals with pathogenic <jats:italic>KAT6A<\/jats:italic> variants. Medical and communication data were acquired via standardized surveys and telehealth\u2010assessment. Forty\u2010nine individuals (25 females; aged 1;5\u201331;10) were recruited, most with truncating variants (44\/49). Intellectual disability\/developmental delay (42\/45) was common, mostly moderate\/severe, alongside concerns about vision (37\/48), gastrointestinal function (33\/48), and sleep (31\/48). One\u2010third (10\/31) had a diagnosis of autism. Seventy\u2010three percent (36\/49) were minimally\u2010verbal, relying on nonverbal behaviors to communicate. Verbal participants (13\/49) displayed complex and co\u2010occurring speech diagnoses regarding the perception\/production of speech sounds, including phonological impairment (i.e., linguistic deficits) and speech apraxia (i.e., motor planning\/programming deficits), which significantly impacted intelligibility. Receptive\/expressive language and adaptive functioning were also severely impaired. Truncating variants in the last two exons of <jats:italic>KAT6A<\/jats:italic> were associated with poorer communication, daily\u2010living skills, and socialization outcomes. In conclusion, severe communication difficulties are present in KAT6A syndrome, typically on a background of significant intellectual disability, vision, feeding and motor deficits, and autism in some. Most are minimally\u2010verbal, with apparent contributions from underlying motor deficits and cognitive\u2010linguistic impairment. Alternative\/augmentative communication (AAC) approaches are required for many into adult life. Tailored AAC options should be fostered early, to accommodate the best communication outcomes.<\/jats:p>","DOI":"10.1002\/ajmg.a.62899","type":"journal-article","created":{"date-parts":[[2022,7,27]],"date-time":"2022-07-27T07:58:13Z","timestamp":1658908693000},"page":"3389-3400","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":32,"title":["Speech and language development and genotype\u2013phenotype correlation in 49 individuals with <scp>KAT6A<\/scp> syndrome"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4723-937X","authenticated-orcid":false,"given":"Miya","family":"St John","sequence":"first","affiliation":[{"name":"Murdoch Children's Research Institute  Parkville Victoria Australia"},{"name":"Department of Audiology and Speech Pathology University of Melbourne  Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7191-8511","authenticated-orcid":false,"given":"David J.","family":"Amor","sequence":"additional","affiliation":[{"name":"Murdoch Children's Research Institute  Parkville Victoria Australia"},{"name":"Department of Paediatrics University of Melbourne  Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1147-7405","authenticated-orcid":false,"given":"Angela T.","family":"Morgan","sequence":"additional","affiliation":[{"name":"Murdoch Children's Research Institute  Parkville Victoria Australia"},{"name":"Department of Audiology and Speech Pathology University of Melbourne  Melbourne Victoria Australia"},{"name":"Speech Genomics Clinic Royal Children's Hospital  Parkville Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,7,27]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2013.03.006"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0038-1676649"},{"key":"e_1_2_9_4_1","volume-title":"Childhood apraxia of speech","author":"American Speech\u2010Language\u2010Hearing Association (ASHA)","year":"2021"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.01.017"},{"key":"e_1_2_9_6_1","volume-title":"Children's communication checklist (CCC\u20102)","author":"Bishop D. 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Enhancing everyday communications for children with disabilities","author":"Sigafoos J.","year":"2006"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1177\/152574010002100202"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.3390\/brainsci11080966"},{"key":"e_1_2_9_23_1","volume-title":"Vineland adaptive behaviour scales, second edition (Vineland\u20102)","author":"Sparrow S. S.","year":"2015"},{"key":"e_1_2_9_24_1","volume-title":"Vineland adaptive behaviour scales","author":"Sparrow S. 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