{"id":1928,"date":"2024-01-31T14:59:32","date_gmt":"2024-01-31T14:59:32","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1928"},"modified":"2026-02-22T23:26:05","modified_gmt":"2026-02-22T23:26:05","slug":"expanding-the-phenotype-of-kleefstra-syndrome-speech-language-and-cognition-in-103-individuals","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2024\/01\/31\/expanding-the-phenotype-of-kleefstra-syndrome-speech-language-and-cognition-in-103-individuals\/","title":{"rendered":"Expanding the phenotype of Kleefstra syndrome: speech, language, and cognition in 103 individuals [Contributed by Lottie Morison MSpPath, BA, BSc, GCertMHSc, CPSP (she\/her)]"},"content":{"rendered":"<p>Speech, language, and cognitive impairment are defining features of Kleefstra syndrome but have not been systematically characterised, limiting robust clinical decision making and future planning. We characterised speech, language, and cognition in 103 individuals with Kleefstra syndrome. Language and cognitive ability ranged from average to severely impaired and most verbal individuals had speech production disorders (48\/49, 98%). Developmental regression occurred (11\/80, 14%). Those with speech disorders or who were minimally verbal used communication aids such as sign language or speech generating devices (61\/103, 59%). The heterogeneous communication and cognitive profile necessitates tailored speech intervention and early access to communication aids. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2024\/01\/30\/jmg-2023-109702\">https:\/\/jmg.bmj.com\/content\/early\/2024\/01\/30\/jmg-2023-109702<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2024\/01\/31\/expanding-the-phenotype-of-kleefstra-syndrome-speech-language-and-cognition-in-103-individuals\/untitled-70\/\" rel=\"attachment wp-att-1929\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1929\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2024\/01\/Untitled-300x168.png\" alt=\"\" width=\"300\" height=\"168\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2024\/01\/Untitled-300x168.png 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2024\/01\/Untitled-1024x574.png 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2024\/01\/Untitled-768x430.png 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2024\/01\/Untitled-640x359.png 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2024\/01\/Untitled.png 1196w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Speech, language, and cognitive impairment are defining features of Kleefstra syndrome but have not been systematically characterised, limiting robust clinical decision making and future planning. We characterised speech, language, and cognition in 103 individuals with Kleefstra syndrome. Language and cognitive ability ranged from average to severely impaired and most verbal individuals had speech production disorders [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2024\/01\/31\/expanding-the-phenotype-of-kleefstra-syndrome-speech-language-and-cognition-in-103-individuals\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1928","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Expanding the phenotype of Kleefstra syndrome: speech, language, and cognition in 103 individuals [Contributed by Lottie Morison MSpPath, BA, BSc, GCertMHSc, CPSP (she\/her)] - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2024\/01\/31\/expanding-the-phenotype-of-kleefstra-syndrome-speech-language-and-cognition-in-103-individuals\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Expanding the phenotype of Kleefstra syndrome: speech, language, and cognition in 103 individuals [Contributed by Lottie Morison MSpPath, BA, BSc, GCertMHSc, CPSP (she\/her)] - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Speech, language, and cognitive impairment are defining features of Kleefstra syndrome but have not been systematically characterised, limiting robust clinical decision making and future planning. We characterised speech, language, and cognition in 103 individuals with Kleefstra syndrome. Language and cognitive ability ranged from average to severely impaired and most verbal individuals had speech production disorders [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2024\/01\/31\/expanding-the-phenotype-of-kleefstra-syndrome-speech-language-and-cognition-in-103-individuals\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2024-01-31T14:59:32+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-22T23:26:05+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2024\/01\/Untitled.png\" \/>\n\t<meta property=\"og:image:width\" content=\"1196\" \/>\n\t<meta property=\"og:image:height\" content=\"670\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/png\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2024\\\/01\\\/31\\\/expanding-the-phenotype-of-kleefstra-syndrome-speech-language-and-cognition-in-103-individuals\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2024\\\/01\\\/31\\\/expanding-the-phenotype-of-kleefstra-syndrome-speech-language-and-cognition-in-103-individuals\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Expanding the phenotype of Kleefstra syndrome: speech, language, and cognition in 103 individuals [Contributed by Lottie Morison MSpPath, BA, BSc, GCertMHSc, CPSP (she\\\/her)]\",\"datePublished\":\"2024-01-31T14:59:32+00:00\",\"dateModified\":\"2026-02-22T23:26:05+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2024\\\/01\\\/31\\\/expanding-the-phenotype-of-kleefstra-syndrome-speech-language-and-cognition-in-103-individuals\\\/\"},\"wordCount\":124,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2024\\\/01\\\/31\\\/expanding-the-phenotype-of-kleefstra-syndrome-speech-language-and-cognition-in-103-individuals\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2024\\\/01\\\/Untitled-300x168.png\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2024\\\/01\\\/31\\\/expanding-the-phenotype-of-kleefstra-syndrome-speech-language-and-cognition-in-103-individuals\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2024\\\/01\\\/31\\\/expanding-the-phenotype-of-kleefstra-syndrome-speech-language-and-cognition-in-103-individuals\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2024\\\/01\\\/31\\\/expanding-the-phenotype-of-kleefstra-syndrome-speech-language-and-cognition-in-103-individuals\\\/\",\"name\":\"Expanding the phenotype of Kleefstra syndrome: speech, language, and cognition in 103 individuals [Contributed by Lottie Morison MSpPath, BA, BSc, GCertMHSc, CPSP (she\\\/her)] - 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