{"id":387,"date":"2019-01-24T20:40:12","date_gmt":"2019-01-24T20:40:12","guid":{"rendered":"http:\/\/clemson.world\/research\/?p=387"},"modified":"2019-03-12T13:20:04","modified_gmt":"2019-03-12T13:20:04","slug":"researchers-using-3d-facial-scans-to-aid-diagnosis-of-children-with-rare-genetic-syndrome","status":"publish","type":"post","link":"https:\/\/clemson.world\/research\/researchers-using-3d-facial-scans-to-aid-diagnosis-of-children-with-rare-genetic-syndrome\/","title":{"rendered":"WEB FEATURE: Researchers using 3D facial scans to aid diagnosis of children with rare genetic syndrome"},"content":{"rendered":"<div id='fullscreen_slider_1'  class='avia-fullscreen-slider main_color   avia-builder-el-0  el_before_av_one_full  avia-builder-el-first   container_wrap sidebar_right' style=' '  ><a href='#next-section' title='' class='scroll-down-link av-control-default' aria-hidden='true' data-av_icon='\ue877' data-av_iconfont='entypo-fontello'><\/a><div   data-size='no scaling'  data-lightbox_size='large'  data-animation='slide'  data-conditional_play=''  data-ids='393'  data-video_counter='0'  data-autoplay='false'  data-bg_slider='true'  data-slide_height='100'  data-handle='av_fullscreen'  data-interval='5'  data-class=' '  data-el_id=''  data-css_id='fullscreen_slider_1'  data-scroll_down='aviaTBscroll_down'  data-control_layout='av-control-default'  data-custom_markup=''  data-perma_caption=''  data-autoplay_stopper=''  data-image_attachment=''  data-min_height='0px'  data-stretch=''  class='avia-slideshow avia-slideshow-1 av-slider-scroll-down-active av-control-default av-default-height-applied avia-slideshow-no scaling av_fullscreen   avia-slide-slider '  itemprop=\"image\" itemscope=\"itemscope\" itemtype=\"https:\/\/schema.org\/ImageObject\" ><ul class='avia-slideshow-inner ' style='padding-bottom: 32.0150659134%;' ><li style='background-position:center center;' data-img-url='https:\/\/clemson.world\/research\/wp-content\/uploads\/sites\/2\/2019\/01\/3dMDhead.t-System-baby-2018-1.jpg' class=' av-single-slide slide-1 ' ><div data-rel='slideshow-1' class='avia-slide-wrap '   ><div class = \"caption_fullwidth av-slideshow-caption caption_center\"><div class = \"container caption_container\"><div class = \"slideshow_caption\"><div class = \"slideshow_inner_caption\"><div class = \"slideshow_align_caption\"><h2  style='font-size:48px; ' class='avia-caption-title  '  itemprop=\"name\" >Early Detection<\/h2><div class='avia-caption-content  av_inherit_color'  itemprop=\"description\"   style='font-size:20px; '><p>Researchers using 3D facial scans to aid diagnosis of children with rare genetic syndrome<br \/>\nBy Michael Staton<\/p>\n<\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/li><\/ul><\/div><\/div><div id='after_full_slider_1'  class='main_color av_default_container_wrap container_wrap sidebar_right' style=' '  ><div class='container' ><div class='template-page content  av-content-small alpha units'><div class='post-entry post-entry-type-page post-entry-387'><div class='entry-content-wrapper clearfix'>\n<div class=\"flex_column av_one_full  flex_column_div av-zero-column-padding first  avia-builder-el-1  el_after_av_fullscreen  el_before_av_fullscreen  avia-builder-el-no-sibling  \" style='border-radius:0px; '><section class=\"av_textblock_section \"  itemscope=\"itemscope\" itemtype=\"https:\/\/schema.org\/BlogPosting\" itemprop=\"blogPost\" ><div class='avia_textblock  '  style='font-size:19px; '  itemprop=\"text\" ><p><span style=\"font-size: 18pt;\">Clemson University faculty have been awarded a grant from the\u00a0<a href=\"https:\/\/www.nih.gov\/\">National Institutes of Health<\/a>\u00a0to investigate the use of 3D imaging that could allow for quicker diagnosis of children with\u00a0<a href=\"https:\/\/www.pmsf.org\/what_is_pms\/\">Phelan-McDermid syndrome<\/a>, a rare genetic condition that causes intellectual and physical disabilities.<\/span><\/p>\n<p><span style=\"font-size: 18pt;\">Katherine Weisensee, chair of Clemson\u2019s\u00a0<a href=\"https:\/\/www.clemson.edu\/cbshs\/departments\/sociology\/\">sociology, anthropology and criminal justice department<\/a>, will focus the research on the facial characteristics that are often caused by the syndrome. These characteristics, which often include flattening of the face and a wide brow, have historically been the first signs that lead diagnosticians to identify the syndrome.<\/span><\/p>\n<\/div><\/section><\/div>\n<\/div><\/div><\/div><!-- close content main div --><\/div><\/div><div id='fullscreen_slider_2'  class='avia-fullscreen-slider main_color   avia-builder-el-3  el_after_av_one_full  el_before_av_textblock   slider-not-first container_wrap sidebar_right' style=' '  ><div   data-size='extra_large'  data-lightbox_size='large'  data-animation='slide'  data-conditional_play=''  data-ids='390'  data-video_counter='0'  data-autoplay='false'  data-bg_slider='true'  data-slide_height='100'  data-handle='av_fullscreen'  data-interval='5'  data-class=' '  data-el_id=''  data-css_id='fullscreen_slider_2'  data-scroll_down=''  data-control_layout='av-control-default'  data-custom_markup=''  data-perma_caption=''  data-autoplay_stopper=''  data-image_attachment=''  data-min_height='0px'  data-stretch=''  data-default-height='100'  class='avia-slideshow avia-slideshow-2  av-control-default av-default-height-applied avia-slideshow-extra_large av_fullscreen   avia-slide-slider '  itemprop=\"image\" itemscope=\"itemscope\" itemtype=\"https:\/\/schema.org\/ImageObject\" ><ul class='avia-slideshow-inner ' style='padding-bottom: 41.5333333333%;' ><li style='background-position:center center;' data-img-url='https:\/\/clemson.world\/research\/wp-content\/uploads\/sites\/2\/2019\/01\/3DMD-02-1500x623.jpg' class=' av-single-slide slide-1 ' ><div data-rel='slideshow-2' class='avia-slide-wrap '   ><\/div><\/li><\/ul><\/div><\/div><div id='after_full_slider_2'  class='main_color av_default_container_wrap container_wrap sidebar_right' style=' '  ><div class='container' ><div class='template-page content  av-content-small alpha units'><div class='post-entry post-entry-type-page post-entry-387'><div class='entry-content-wrapper clearfix'>\n<section class=\"av_textblock_section \"  itemscope=\"itemscope\" itemtype=\"https:\/\/schema.org\/BlogPosting\" itemprop=\"blogPost\" ><div class='avia_textblock  '   itemprop=\"text\" ><p><span style=\"font-size: 14pt;\">Due to the rarity of the syndrome, this diagnosis and associated genetic testing can have families waiting months or years for a conclusive answer.\u00a0<a href=\"http:\/\/www.3dmd.com\/\">Technology that allows for detailed 3D scans<\/a>\u00a0of a large portion of the patient population could allow Weisensee and her fellow researchers to determine a quantitative \u201caverage\u201d for these distinct characteristics, which would speed up diagnosis.<\/span><\/p>\n<p><span style=\"font-size: 14pt;\"><span class=\"pullquote alignleft\">\u201cThese scans can give us a concrete idea of the difference between patients with the syndrome and the unaffected population,\u201d Weisensee said. \u201cThis would lead to a faster diagnosis for the child so that families can seek the interventions they need sooner.\u201d<\/span><\/span><\/p>\n<div id=\"attachment_392\" style=\"width: 310px\" class=\"wp-caption alignright\"><a href=\"https:\/\/clemson.world\/research\/wp-content\/uploads\/sites\/2\/2019\/01\/3DMD-01.jpg\"><img loading=\"lazy\" decoding=\"async\" aria-describedby=\"caption-attachment-392\" class=\"wp-image-392 size-medium\" src=\"http:\/\/clemson.world\/research\/wp-content\/uploads\/sites\/2\/2019\/01\/3DMD-01-300x200.jpg\" alt=\"\" width=\"300\" height=\"200\" srcset=\"https:\/\/clemsonworld.wpenginepowered.com\/research\/wp-content\/uploads\/sites\/2\/2019\/01\/3DMD-01-300x200.jpg 300w, https:\/\/clemsonworld.wpenginepowered.com\/research\/wp-content\/uploads\/sites\/2\/2019\/01\/3DMD-01-768x512.jpg 768w, https:\/\/clemsonworld.wpenginepowered.com\/research\/wp-content\/uploads\/sites\/2\/2019\/01\/3DMD-01-1030x687.jpg 1030w, https:\/\/clemsonworld.wpenginepowered.com\/research\/wp-content\/uploads\/sites\/2\/2019\/01\/3DMD-01-1500x1000.jpg 1500w, https:\/\/clemsonworld.wpenginepowered.com\/research\/wp-content\/uploads\/sites\/2\/2019\/01\/3DMD-01-705x470.jpg 705w, https:\/\/clemsonworld.wpenginepowered.com\/research\/wp-content\/uploads\/sites\/2\/2019\/01\/3DMD-01-450x300.jpg 450w, https:\/\/clemsonworld.wpenginepowered.com\/research\/wp-content\/uploads\/sites\/2\/2019\/01\/3DMD-01.jpg 2016w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><p id=\"caption-attachment-392\" class=\"wp-caption-text\">An example of one of the camera systems that 3dMD provides for image capturing. Image Credit: 3dMD<\/p><\/div>\n<p><span style=\"font-size: 14pt;\">Weisensee will utilize state-of-the-art image capture technology in which six cameras simultaneously capture photos of the patient\u2019s face every 1.5 milliseconds. Weisensee will then pick the most representative photos from the resulting string of images, and these images can then be rendered digitally to show an underlying network of data points between eye and nose or mouth and cheek, for example.<\/span><\/p>\n<p><span style=\"font-size: 14pt;\">By coding facial landmarks and determining an \u201caverage\u201d for characteristics across approximately 150 subjects \u2014 roughly a 10th of the documented population affected by the syndrome \u2014 researchers hope to trace the trajectory of the syndrome\u2019s effects and how that trajectory changes based on age, sex and ethnicity.<\/span><\/p>\n<p><span style=\"font-size: 14pt;\">Weisensee is working with Kara Powder, assistant professor in Clemson\u2019s\u00a0<a href=\"https:\/\/www.clemson.edu\/science\/departments\/biosci\/\">biological sciences department<\/a>, to get a better sense of the relationship between facial development and gene disruption in the syndrome. These findings could have a bearing on gene therapy in the future.<\/span><\/p>\n<p><span style=\"font-size: 14pt;\">\u201cBy defining the physical changes quantitatively and then charting the underlying genetic reasons for these changes, we can give physicians tools to recognize the syndrome faster and understand it more fully,\u201d Weisensee said. \u201cUnfortunately, there is a shortage of professionals who can recognize it quickly, so we hope to provide a shortcut in this area for physicians.\u201d<\/span><\/p>\n<p><span style=\"font-size: 14pt;\">Curtis Rogers, senior clinical geneticist at the\u00a0<a href=\"https:\/\/www.ggc.org\/\">Greenwood Genetic Center<\/a>, is one of the few geneticists who has extensive experience with the syndrome. He has worked with the Phelan-McDermid Syndrome Foundation since its inception in 1998 and he said it is likely that he has seen more patients with the syndrome than any physician in the world.<\/span><\/p>\n<div id=\"attachment_391\" style=\"width: 600px\" class=\"wp-caption alignright\"><a href=\"https:\/\/clemson.world\/research\/wp-content\/uploads\/sites\/2\/2019\/01\/3DMD-03.jpg\"><img loading=\"lazy\" decoding=\"async\" aria-describedby=\"caption-attachment-391\" class=\"wp-image-391 size-full\" src=\"http:\/\/clemson.world\/research\/wp-content\/uploads\/sites\/2\/2019\/01\/3DMD-03.jpg\" alt=\"\" width=\"590\" height=\"320\" srcset=\"https:\/\/clemsonworld.wpenginepowered.com\/research\/wp-content\/uploads\/sites\/2\/2019\/01\/3DMD-03.jpg 590w, https:\/\/clemsonworld.wpenginepowered.com\/research\/wp-content\/uploads\/sites\/2\/2019\/01\/3DMD-03-300x163.jpg 300w, https:\/\/clemsonworld.wpenginepowered.com\/research\/wp-content\/uploads\/sites\/2\/2019\/01\/3DMD-03-450x244.jpg 450w\" sizes=\"auto, (max-width: 590px) 100vw, 590px\" \/><\/a><p id=\"caption-attachment-391\" class=\"wp-caption-text\">An example of the 3dMD software researchers will use in the project. The technology is powered by anatomically-precise 3D and \u201ctemporal-3D\u201d (4D) surface imaging systems. Image Credit: 3dMD<\/p><\/div>\n<p><span style=\"font-size: 14pt;\">In addition to understanding growth trajectory in patients, Rogers said documenting facial landmarks over time might allow physicians to predict the autism spectrum disorder and regression in developmental milestones associated with the syndrome. Between 50 and 85 percent of children with the syndrome develop autism spectrum disorder, and between 25 and 50 percent of children experience developmental regression.<\/span><\/p>\n<p><span style=\"font-size: 14pt;\">However, the research would be worthwhile if only to achieve a better model for recognizing features that accompany the syndrome. Rogers said diagnosticians must \u201cwork their way down the diagnostic chain\u201d to hone in on the syndrome, and this research might allow them to skip some links in that chain.<\/span><\/p>\n<p><span style=\"font-size: 14pt;\">\u201cFamilies are often stuck in limbo waiting for information, including what caused it and whether there is risk in a future pregnancy,\u201d Rogers said. \u201cConsidering it can take up to two years to get this diagnosis in some areas of the country, any project that allows us to get information to a family sooner is worthwhile. I say that not as a geneticist, but as a parent and grandparent.\u201d<\/span><\/p>\n<p><span style=\"font-size: 14pt;\">Weisensee looks forward to applying her expertise of the skull and craniofacial symmetry in a way that will positively impact a specific population, but she also has a personal motivation. She has an uncle with a congenital disease, and although it has had a marked effect on his mental functioning, it has never been diagnosed.<\/span><\/p>\n<div id=\"attachment_394\" style=\"width: 444px\" class=\"wp-caption alignright\"><a href=\"http:\/\/clemson.world\/research\/wp-content\/uploads\/sites\/2\/2019\/01\/16x9-PMS-01-JH2.jpg\"><img loading=\"lazy\" decoding=\"async\" aria-describedby=\"caption-attachment-394\" class=\" wp-image-394\" src=\"http:\/\/clemson.world\/research\/wp-content\/uploads\/sites\/2\/2019\/01\/16x9-PMS-01-JH2-300x169.jpg\" alt=\"\" width=\"434\" height=\"276\" \/><\/a><p id=\"caption-attachment-394\" class=\"wp-caption-text\">Phelan-McDermid Syndrome presents with a variety of \u201cfacial landmarks,\u201d as described by Weisensee, that can be difficult to discern without the assistance of technology.<br \/>Image Credit: Phelan-McDermid Syndrome Foundation<\/p><\/div>\n<p><span style=\"font-size: 14pt;\">\u201cI feel that once you name a syndrome it helps people understand it and know what to expect,\u201d Weisensee said. \u201cI think it would be great to be able to use my work to help shed some light on that mystery for families.\u201d<\/span><\/p>\n<p><span style=\"font-size: 14pt;\">The syndrome is a\u00a0rare\u00a0genetic condition caused by a deletion or other structural change of a chromosome. The most common characteristics are intellectual disability of varying degrees, delayed or absent speech, symptoms of autism spectrum disorder, low muscle tone, motor delays and epilepsy.<\/span><\/p>\n<p><span style=\"font-size: 14pt;\">The genetic changes that cause the syndrome vary from person to person and can occur randomly or be inherited from a parent who carries a related genetic change. There is currently no cure or treatment specifically for the syndrome, so early detection to manage symptoms effectively is of paramount importance to families.<\/span><\/p>\n<p><span style=\"font-size: 14pt;\"><em>Research reported in this publication was supported by the National Institute of Dental &amp; Craniofacial Research of the National Institutes of Health under Award Number R03DE027497. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.<\/em><\/span><\/p>\n<\/div><\/section>\n","protected":false},"excerpt":{"rendered":"","protected":false},"author":4,"featured_media":389,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"jetpack_post_was_ever_published":false,"_jetpack_newsletter_access":"","_jetpack_dont_email_post_to_subs":false,"_jetpack_newsletter_tier_id":0,"_jetpack_memberships_contains_paywalled_content":false,"_jetpack_memberships_contains_paid_content":false,"footnotes":"","jetpack_publicize_message":"","jetpack_publicize_feature_enabled":true,"jetpack_social_post_already_shared":true,"jetpack_social_options":{"image_generator_settings":{"template":"highway","default_image_id":0,"font":"","enabled":false},"version":2}},"categories":[2,89],"tags":[176],"coauthors":[7],"class_list":["post-387","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-research-features","category-web-only-features","tag-web-only-feature"],"jetpack_publicize_connections":[],"jetpack_featured_media_url":"https:\/\/clemson.world\/research\/wp-content\/uploads\/sites\/2\/2019\/01\/3dMDhead.t-System-baby-2018.jpg","jetpack_sharing_enabled":true,"jetpack_shortlink":"https:\/\/wp.me\/p9IEky-6f","_links":{"self":[{"href":"https:\/\/clemson.world\/research\/wp-json\/wp\/v2\/posts\/387","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/clemson.world\/research\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/clemson.world\/research\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/clemson.world\/research\/wp-json\/wp\/v2\/users\/4"}],"replies":[{"embeddable":true,"href":"https:\/\/clemson.world\/research\/wp-json\/wp\/v2\/comments?post=387"}],"version-history":[{"count":0,"href":"https:\/\/clemson.world\/research\/wp-json\/wp\/v2\/posts\/387\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/clemson.world\/research\/wp-json\/wp\/v2\/media\/389"}],"wp:attachment":[{"href":"https:\/\/clemson.world\/research\/wp-json\/wp\/v2\/media?parent=387"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/clemson.world\/research\/wp-json\/wp\/v2\/categories?post=387"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/clemson.world\/research\/wp-json\/wp\/v2\/tags?post=387"},{"taxonomy":"author","embeddable":true,"href":"https:\/\/clemson.world\/research\/wp-json\/wp\/v2\/coauthors?post=387"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}