{"id":1780,"date":"2022-10-30T19:13:47","date_gmt":"2022-10-30T19:13:47","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1780"},"modified":"2026-02-23T00:38:50","modified_gmt":"2026-02-23T00:38:50","slug":"reproductive-choices-and-intrafamilial-communication-in-neurogenetic-diseases-with-different-self-estimated-severities-pierron-et-al","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2022\/10\/30\/reproductive-choices-and-intrafamilial-communication-in-neurogenetic-diseases-with-different-self-estimated-severities-pierron-et-al\/","title":{"rendered":"Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities. Pierron, et al. (Contributed by Lucie Pierron, Marcela Gargiulo and Alexandra Durr)"},"content":{"rendered":"<p>Autosomal dominant neurogenetic diseases are characterized by progressive motor and cognitive impairment without curative treatment. They present with variable disease severities and possible transmission to the offspring can be experienced as burdensome. All are accessible to assisted reproductive options. We conducted a survey to assess individual perception of disease severity, opinion on reproductive options and dynamics of intra-familial information. The results show that self-estimated severity differs greatly, although minimally impacting reproductive choices. Assisted reproductive options do not motivate more discussion within families. These results could improve genetic counseling, to get closer to the real needs of patients and their families. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2022\/10\/21\/jmg-2022-108477\">https:\/\/jmg.bmj.com\/content\/early\/2022\/10\/21\/jmg-2022-108477<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2022\/10\/30\/reproductive-choices-and-intrafamilial-communication-in-neurogenetic-diseases-with-different-self-estimated-severities-pierron-et-al\/img-20220722-wa0003\/\" rel=\"attachment wp-att-1781\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1781\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/10\/IMG-20220722-WA0003-300x259.jpg\" alt=\"\" width=\"300\" height=\"259\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/10\/IMG-20220722-WA0003-300x259.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/10\/IMG-20220722-WA0003-640x552.jpg 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/10\/IMG-20220722-WA0003.jpg 747w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><\/p>\n<p>From left to right: Ms Elodie Petit, Dr Lucie Pierron, Pr Marcela Gargiulo, Pr Alexandra Durr<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Autosomal dominant neurogenetic diseases are characterized by progressive motor and cognitive impairment without curative treatment. They present with variable disease severities and possible transmission to the offspring can be experienced as burdensome. All are accessible to assisted reproductive options. We conducted a survey to assess individual perception of disease severity, opinion on reproductive options and [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2022\/10\/30\/reproductive-choices-and-intrafamilial-communication-in-neurogenetic-diseases-with-different-self-estimated-severities-pierron-et-al\/\">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-1780","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>Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities. Pierron, et al. (Contributed by Lucie Pierron, Marcela Gargiulo and Alexandra Durr) - 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\/2022\/10\/30\/reproductive-choices-and-intrafamilial-communication-in-neurogenetic-diseases-with-different-self-estimated-severities-pierron-et-al\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities. Pierron, et al. (Contributed by Lucie Pierron, Marcela Gargiulo and Alexandra Durr) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Autosomal dominant neurogenetic diseases are characterized by progressive motor and cognitive impairment without curative treatment. They present with variable disease severities and possible transmission to the offspring can be experienced as burdensome. All are accessible to assisted reproductive options. We conducted a survey to assess individual perception of disease severity, opinion on reproductive options and [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2022\/10\/30\/reproductive-choices-and-intrafamilial-communication-in-neurogenetic-diseases-with-different-self-estimated-severities-pierron-et-al\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2022-10-30T19:13:47+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T00:38:50+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/10\/IMG-20220722-WA0003.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"747\" \/>\n\t<meta property=\"og:image:height\" content=\"644\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\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\\\/2022\\\/10\\\/30\\\/reproductive-choices-and-intrafamilial-communication-in-neurogenetic-diseases-with-different-self-estimated-severities-pierron-et-al\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/10\\\/30\\\/reproductive-choices-and-intrafamilial-communication-in-neurogenetic-diseases-with-different-self-estimated-severities-pierron-et-al\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities. 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