{"id":1526,"date":"2020-08-26T15:48:31","date_gmt":"2020-08-26T15:48:31","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1526"},"modified":"2026-02-23T23:49:07","modified_gmt":"2026-02-23T23:49:07","slug":"determinants-of-quality-of-life-in-rett-syndrome-new-findings-on-associations-with-genotype","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/26\/determinants-of-quality-of-life-in-rett-syndrome-new-findings-on-associations-with-genotype\/","title":{"rendered":"Determinants of quality of life in Rett syndrome: new findings on associations with genotype (Contributed by Prof Jenny Downs)"},"content":{"rendered":"<p>This study examined how the type of genetic mutation, function and health affect quality of life in Rett syndrome. Better walking and feeding skills and less frequent seizures were associated with better quality of life and poor sleep and behavioural difficulties with poorer quality of life. Compared to other mutations, individuals with the p.Arg294* mutation experienced the poorest quality of life, explained by poor sleep and more behavioural difficulties and despite better mobility. Genotype, function and health each have implications for quality of life and should be considered when planning clinical and support management strategies. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2020\/08\/25\/jmedgenet-2020-107120\">https:\/\/jmg.bmj.com\/content\/early\/2020\/08\/25\/jmedgenet-2020-107120<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/26\/determinants-of-quality-of-life-in-rett-syndrome-new-findings-on-associations-with-genotype\/untitled-34\/\" rel=\"attachment wp-att-1527\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1527\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/08\/Untitled-1-294x300.png\" alt=\"\" width=\"294\" height=\"300\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/08\/Untitled-1-294x300.png 294w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/08\/Untitled-1.png 560w\" sizes=\"auto, (max-width: 294px) 100vw, 294px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>This study examined how the type of genetic mutation, function and health affect quality of life in Rett syndrome. Better walking and feeding skills and less frequent seizures were associated with better quality of life and poor sleep and behavioural difficulties with poorer quality of life. Compared to other mutations, individuals with the p.Arg294* mutation [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/26\/determinants-of-quality-of-life-in-rett-syndrome-new-findings-on-associations-with-genotype\/\">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-1526","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>Determinants of quality of life in Rett syndrome: new findings on associations with genotype (Contributed by Prof Jenny Downs) - 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\/2020\/08\/26\/determinants-of-quality-of-life-in-rett-syndrome-new-findings-on-associations-with-genotype\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Determinants of quality of life in Rett syndrome: new findings on associations with genotype (Contributed by Prof Jenny Downs) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"This study examined how the type of genetic mutation, function and health affect quality of life in Rett syndrome. Better walking and feeding skills and less frequent seizures were associated with better quality of life and poor sleep and behavioural difficulties with poorer quality of life. Compared to other mutations, individuals with the p.Arg294* mutation [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/26\/determinants-of-quality-of-life-in-rett-syndrome-new-findings-on-associations-with-genotype\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2020-08-26T15:48:31+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T23:49:07+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/08\/Untitled-1.png\" \/>\n\t<meta property=\"og:image:width\" content=\"560\" \/>\n\t<meta property=\"og:image:height\" content=\"572\" \/>\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\\\/2020\\\/08\\\/26\\\/determinants-of-quality-of-life-in-rett-syndrome-new-findings-on-associations-with-genotype\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/08\\\/26\\\/determinants-of-quality-of-life-in-rett-syndrome-new-findings-on-associations-with-genotype\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Determinants of quality of life in Rett syndrome: new findings on associations with genotype (Contributed by Prof Jenny Downs)\",\"datePublished\":\"2020-08-26T15:48:31+00:00\",\"dateModified\":\"2026-02-23T23:49:07+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/08\\\/26\\\/determinants-of-quality-of-life-in-rett-syndrome-new-findings-on-associations-with-genotype\\\/\"},\"wordCount\":123,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/08\\\/26\\\/determinants-of-quality-of-life-in-rett-syndrome-new-findings-on-associations-with-genotype\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2020\\\/08\\\/Untitled-1-294x300.png\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/08\\\/26\\\/determinants-of-quality-of-life-in-rett-syndrome-new-findings-on-associations-with-genotype\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/08\\\/26\\\/determinants-of-quality-of-life-in-rett-syndrome-new-findings-on-associations-with-genotype\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/08\\\/26\\\/determinants-of-quality-of-life-in-rett-syndrome-new-findings-on-associations-with-genotype\\\/\",\"name\":\"Determinants of quality of life in Rett syndrome: new findings on associations with genotype (Contributed by Prof Jenny Downs) - 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