{"id":7172,"date":"2022-04-27T12:15:11","date_gmt":"2022-04-27T10:15:11","guid":{"rendered":"https:\/\/www.nexmif.it\/come-viene-diagnosticata\/"},"modified":"2023-10-24T16:16:55","modified_gmt":"2023-10-24T14:16:55","slug":"how-is-it-diagnosed","status":"publish","type":"page","link":"https:\/\/www.nexmif.it\/en\/how-is-it-diagnosed\/","title":{"rendered":"How it is diagnosed"},"content":{"rendered":"\t\t<div data-elementor-type=\"wp-post\" data-elementor-id=\"7172\" class=\"elementor elementor-7172 elementor-4995\">\n\t\t\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-bfac79c elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"bfac79c\" data-element_type=\"section\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;,&quot;animation&quot;:&quot;none&quot;}\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-0a48097 column-style-top column-top\" data-id=\"0a48097\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<section class=\"elementor-section elementor-inner-section elementor-element elementor-element-bc856bc elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"bc856bc\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-inner-column elementor-element elementor-element-14db08b column-style-top column-top\" data-id=\"14db08b\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-37ee250 elementor-widget elementor-widget-gva-heading-block\" data-id=\"37ee250\" data-element_type=\"widget\" data-widget_type=\"gva-heading-block.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t<div class=\"gva-element-gva-heading-block gva-element\">   <div class=\"align-center style-1 widget gsc-heading\">\r\n      <div class=\"content-inner\">\r\n                     <div class=\"heading-icon\"><img decoding=\"async\" src=\"https:\/\/www.nexmif.it\/wp-content\/plugins\/gavias-oxpitan-themer\/elementor\/assets\/images\/icon-heading.png\" alt=\"Clinical diagnostic tests\"\/><\/div>\r\n           \r\n                     <h2 class=\"title\">\r\n               <span>Clinical diagnostic tests<\/span>\r\n            <\/h2>\r\n                              <div class=\"sub-title\"><span>IDENTIFY THE NEXMIF SYNDROME<\/span><\/div>\r\n                  \r\n               <\/div>\r\n   <\/div>\r\n   <div class=\"clearfix\"><\/div>\r\n<\/div>\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-8346b59 elementor-widget elementor-widget-text-editor\" data-id=\"8346b59\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t<style>\/*! elementor - v3.20.0 - 11-03-2024 *\/\n.elementor-widget-text-editor.elementor-drop-cap-view-stacked .elementor-drop-cap{background-color:#69727d;color:#fff}.elementor-widget-text-editor.elementor-drop-cap-view-framed .elementor-drop-cap{color:#69727d;border:3px solid;background-color:transparent}.elementor-widget-text-editor:not(.elementor-drop-cap-view-default) .elementor-drop-cap{margin-top:8px}.elementor-widget-text-editor:not(.elementor-drop-cap-view-default) .elementor-drop-cap-letter{width:1em;height:1em}.elementor-widget-text-editor .elementor-drop-cap{float:left;text-align:center;line-height:1;font-size:50px}.elementor-widget-text-editor .elementor-drop-cap-letter{display:inline-block}<\/style>\t\t\t\tAgreeing with your trusted specialist on the opportunity for further investigating also in the genetic area is crucial to classify many syndromes.\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-41069fae elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"41069fae\" data-element_type=\"section\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;}\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-50 elementor-top-column elementor-element elementor-element-525f3810 column-style-top column-top\" data-id=\"525f3810\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-46087ae elementor-widget elementor-widget-accordion\" data-id=\"46087ae\" data-element_type=\"widget\" data-widget_type=\"accordion.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t<style>\/*! elementor - v3.20.0 - 11-03-2024 *\/\n.elementor-accordion{text-align:left}.elementor-accordion .elementor-accordion-item{border:1px solid #d5d8dc}.elementor-accordion .elementor-accordion-item+.elementor-accordion-item{border-top:none}.elementor-accordion .elementor-tab-title{margin:0;padding:15px 20px;font-weight:700;line-height:1;cursor:pointer;outline:none}.elementor-accordion .elementor-tab-title .elementor-accordion-icon{display:inline-block;width:1.5em}.elementor-accordion .elementor-tab-title .elementor-accordion-icon svg{width:1em;height:1em}.elementor-accordion .elementor-tab-title .elementor-accordion-icon.elementor-accordion-icon-right{float:right;text-align:right}.elementor-accordion .elementor-tab-title .elementor-accordion-icon.elementor-accordion-icon-left{float:left;text-align:left}.elementor-accordion .elementor-tab-title .elementor-accordion-icon .elementor-accordion-icon-closed{display:block}.elementor-accordion .elementor-tab-title .elementor-accordion-icon .elementor-accordion-icon-opened,.elementor-accordion .elementor-tab-title.elementor-active .elementor-accordion-icon-closed{display:none}.elementor-accordion .elementor-tab-title.elementor-active .elementor-accordion-icon-opened{display:block}.elementor-accordion .elementor-tab-content{display:none;padding:15px 20px;border-top:1px solid #d5d8dc}@media (max-width:767px){.elementor-accordion .elementor-tab-title{padding:12px 15px}.elementor-accordion .elementor-tab-title .elementor-accordion-icon{width:1.2em}.elementor-accordion .elementor-tab-content{padding:7px 15px}}.e-con-inner>.elementor-widget-accordion,.e-con>.elementor-widget-accordion{width:var(--container-widget-width);--flex-grow:var(--container-widget-flex-grow)}<\/style>\t\t<div class=\"elementor-accordion\">\n\t\t\t\t\t\t\t<div class=\"elementor-accordion-item\">\n\t\t\t\t\t<h2 id=\"elementor-tab-title-7341\" class=\"elementor-tab-title\" data-tab=\"1\" role=\"button\" aria-controls=\"elementor-tab-content-7341\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon elementor-accordion-icon-right\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-closed\"><i class=\"fas fa-plus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-opened\"><i class=\"fas fa-minus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-accordion-title\" tabindex=\"0\">Genetic tests<\/a>\n\t\t\t\t\t<\/h2>\n\t\t\t\t\t<div id=\"elementor-tab-content-7341\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"1\" role=\"region\" aria-labelledby=\"elementor-tab-title-7341\"><p>The <strong>Array<\/strong> test examines all chromosomes at the same time and sometimes this allows the diagnosis of this syndrome, as it is discovered that a part of the X chromosome on which the Nexmif gene is located is missing.<br \/>Today, by means of a new genetic technique called exome sequencing that analyzes the entire DNA, this diagnosis can be made without having been suspected or specifically researched.<br \/>In the event that the patient suffers from epileptic seizures, usually the examination of choice is the <strong>epilepsy panel<\/strong>, which includes a progressively increasing number of genes involved in epileptic syndromes over the years. Some of these genetic tests will also be done on the parents.<\/p><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t<div class=\"elementor-column elementor-col-50 elementor-top-column elementor-element elementor-element-1a59331c column-style-top column-top\" data-id=\"1a59331c\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-fda94a8 elementor-widget elementor-widget-accordion\" data-id=\"fda94a8\" data-element_type=\"widget\" data-widget_type=\"accordion.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<div class=\"elementor-accordion\">\n\t\t\t\t\t\t\t<div class=\"elementor-accordion-item\">\n\t\t\t\t\t<h2 id=\"elementor-tab-title-2651\" class=\"elementor-tab-title\" data-tab=\"1\" role=\"button\" aria-controls=\"elementor-tab-content-2651\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon elementor-accordion-icon-right\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-closed\"><i class=\"fas fa-plus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-opened\"><i class=\"fas fa-minus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-accordion-title\" tabindex=\"0\">EEG<\/a>\n\t\t\t\t\t<\/h2>\n\t\t\t\t\t<div id=\"elementor-tab-content-2651\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"1\" role=\"region\" aria-labelledby=\"elementor-tab-title-2651\"><p>The EEG with video recording is <strong>the examination of choice for cases with suspected epilepsy, as it measures the electrical activity of the brain<\/strong>. In fact, epileptic anomalies may be found: nothing typical of the syndrome but common to other forms of epilepsy.<\/p><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-75c5c46 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"75c5c46\" data-element_type=\"section\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;}\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-50 elementor-top-column elementor-element elementor-element-580940e column-style-top column-top\" data-id=\"580940e\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-0d61a30 elementor-widget elementor-widget-accordion\" data-id=\"0d61a30\" data-element_type=\"widget\" data-widget_type=\"accordion.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<div class=\"elementor-accordion\">\n\t\t\t\t\t\t\t<div class=\"elementor-accordion-item\">\n\t\t\t\t\t<h2 id=\"elementor-tab-title-1401\" class=\"elementor-tab-title\" data-tab=\"1\" role=\"button\" aria-controls=\"elementor-tab-content-1401\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon elementor-accordion-icon-right\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-closed\"><i class=\"fas fa-plus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-opened\"><i class=\"fas fa-minus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-accordion-title\" tabindex=\"0\">MRI<\/a>\n\t\t\t\t\t<\/h2>\n\t\t\t\t\t<div id=\"elementor-tab-content-1401\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"1\" role=\"region\" aria-labelledby=\"elementor-tab-title-1401\"><p>In children with developmental delay, an MRI scan of the brain is often performed. There are usually <strong>no typical anomalies for this syndrome<\/strong>. It may happen that the volume of the brain is lower than age average.<\/p><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t<div class=\"elementor-column elementor-col-50 elementor-top-column elementor-element elementor-element-8dd864a column-style-top column-top\" data-id=\"8dd864a\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-cc28219 elementor-widget elementor-widget-accordion\" data-id=\"cc28219\" data-element_type=\"widget\" data-widget_type=\"accordion.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<div class=\"elementor-accordion\">\n\t\t\t\t\t\t\t<div class=\"elementor-accordion-item\">\n\t\t\t\t\t<h2 id=\"elementor-tab-title-2141\" class=\"elementor-tab-title\" data-tab=\"1\" role=\"button\" aria-controls=\"elementor-tab-content-2141\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon elementor-accordion-icon-right\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-closed\"><i class=\"fas fa-plus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-opened\"><i class=\"fas fa-minus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-accordion-title\" tabindex=\"0\">Metabolic tests<\/a>\n\t\t\t\t\t<\/h2>\n\t\t\t\t\t<div id=\"elementor-tab-content-2141\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"1\" role=\"region\" aria-labelledby=\"elementor-tab-title-2141\">Children with developmental delay often undergo metabolic blood and urine tests to exclude any metabolic disease that could explain the developmental delay. These tests do not give typical results in Nexmif patients.<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-2c7b76c8 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"2c7b76c8\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-55173aa9 column-style-top column-top\" data-id=\"55173aa9\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-1aff4e9a elementor-align-center elementor-widget elementor-widget-button\" data-id=\"1aff4e9a\" data-element_type=\"widget\" data-widget_type=\"button.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<div class=\"elementor-button-wrapper\">\n\t\t\t<a class=\"elementor-button elementor-button-link elementor-size-xl elementor-animation-grow\" href=\"\/en\/nexmif\/\">\n\t\t\t\t\t\t<span class=\"elementor-button-content-wrapper\">\n\t\t\t\t\t\t<span class=\"elementor-button-icon elementor-align-icon-right\">\n\t\t\t\t<i aria-hidden=\"true\" class=\"fas fa-arrow-circle-right\"><\/i>\t\t\t<\/span>\n\t\t\t\t\t\t<span class=\"elementor-button-text\">Back to the Nexmif section<\/span>\n\t\t<\/span>\n\t\t\t\t\t<\/a>\n\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<\/div>\n\t\t","protected":false},"excerpt":{"rendered":"<p>Clinical diagnostic tests IDENTIFY THE NEXMIF SYNDROME Agreeing with your trusted specialist on the opportunity for further investigating also in the genetic area is crucial to classify many syndromes. Genetic tests The Array test examines all chromosomes at the same time and sometimes this allows the diagnosis of this syndrome, as it is discovered that [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_mc_calendar":[],"footnotes":""},"class_list":["post-7172","page","type-page","status-publish","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v22.2 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>How is Nexmif syndrome diagnosed - Unione Italiana Nexmif<\/title>\n<meta name=\"description\" content=\"To diagnose the Nexmif mutation, genetic tests, metabolic tests, MRI or EEG can be done, particularly recommended in cases of suspected epilepsy.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.nexmif.it\/en\/how-is-it-diagnosed\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"How is Nexmif syndrome diagnosed - 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