{"id":86137,"date":"2024-11-14T13:27:30","date_gmt":"2024-11-14T04:27:30","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/2q13_duplication\/"},"modified":"2024-12-12T16:37:21","modified_gmt":"2024-12-12T07:37:21","slug":"2q13_duplication","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/2q13_duplication\/?lang=en","title":{"rendered":"About 2q13 Duplication Syndrome"},"content":{"rendered":"\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2q13_duplication\/?lang=en\/#1_Causes_of_the_disease\" >1. Causes of the disease<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2q13_duplication\/?lang=en\/#2_Symptoms\" >2. Symptoms<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2q13_duplication\/?lang=en\/#3_%E6%B2%BB%E7%99%82\" >3. \u6cbb\u7642<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2q13_duplication\/?lang=en\/#4_Prognosis\" >4. Prognosis<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2q13_duplication\/?lang=en\/#5_The_burden_on_parents\" >5. The burden on parents<\/a><\/li><\/ul><\/nav><\/div>\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_Causes_of_the_disease\"><\/span>1. Causes of the disease<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>2q13 duplication syndrome is a genetic disorder caused by a duplication of part of the long arm of chromosome 2 (2q13). This duplication usually occurs as a de novo mutation, but can also be inherited. This duplication of a gene region can lead to excessive gene expression and abnormal function, which can cause developmental delays and affect behavior and physical characteristics.<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_Symptoms\"><\/span>2. Symptoms<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>Symptoms of 2q13 duplication syndrome depend on the extent and nature of the duplication and may vary from individual to individual, but common symptoms include:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Developmental delay and intellectual disability<\/strong><br>Development of language, motor and social skills is often delayed and there may be mild to moderate intellectual disability.<\/li>\n\n\n\n<li><strong>Behavioral and psychological problems:<\/strong><br>Behaviors similar to Attention Deficit Hyperactivity Disorder (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a>) and Autism Spectrum Disorder (ASD) may be reported, as well as anxiety, emotional instability, and impulsive behavior.<\/li>\n\n\n\n<li><strong>Physical characteristics:<\/strong><br>Facial features and skeletal abnormalities may be present, particularly in the shape of the face and the position and shape of the eyes and ears.<\/li>\n\n\n\n<li><strong>Cardiac and genitourinary abnormalities<\/strong><br>Some patients have congenital abnormalities of the heart, kidneys, or genitourinary system.<\/li>\n\n\n\n<li><strong>Epileptic seizures<\/strong><br>Epilepsy may occur and seizure management may be required.<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E6%B2%BB%E7%99%82\"><\/span>3. \u6cbb\u7642<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>There is no specific treatment for 2q13 duplication syndrome, but symptoms are treated and supported. Common management options include the following:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Developmental support and interventions:<\/strong><br>Efforts will be made to address developmental delays through speech, physical and occupational therapy. An individualized intervention plan is important.<\/li>\n\n\n\n<li><strong>Behavioral therapy and psychological support<\/strong><br>Behavioral problems are treated through behavioral therapy and counseling. Cooperation with schools and families is also important.<\/li>\n\n\n\n<li><strong>Managing epilepsyIf<\/strong><br>you have seizures, antiepileptic drugs are used to control them.<\/li>\n\n\n\n<li><strong>Management of physical complications:<\/strong><br>Cardiac, renal and genitourinary abnormalities are evaluated and managed by appropriate specialists, including surgery if necessary and regular follow-up.<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_Prognosis\"><\/span>4. Prognosis<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>The prognosis of 2q13 duplication syndrome depends largely on the individual symptoms, the extent of the duplication, and whether or not appropriate support is provided. <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/early-nipt-august-only\/\">Early<\/a> intervention and appropriate medical support may make up for developmental delays and improve social skills. However, intellectual disabilities and behavioral problems often persist for a long time, so continued support is necessary.<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_The_burden_on_parents\"><\/span>5. The burden on parents<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>Families raising a child with 2q13 duplication syndrome face many burdens.<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Burden of medical management:<\/strong><br>Ongoing medical management for epilepsy, cardiac and renal complications is required, with regular check-ups and follow-ups with specialists required.<\/li>\n\n\n\n<li><strong>Developmental support and the burden of education<\/strong><br>In order to support children&#8217;s development, it is necessary to provide special support at home and in educational settings. It is important to formulate an individual support plan and provide therapeutic education.<\/li>\n\n\n\n<li><strong>Financial burden:<\/strong><br>Medical expenses, childcare costs, and the use of developmental support services can place a financial burden on families. It is important to use public assistance to reduce this burden.<\/li>\n\n\n\n<li><strong>Emotional strain<\/strong><br>Parents may feel anxious about their child&#8217;s development and future, and feel stressed by the day-to-day caregiving responsibilities. Support groups and counselling may help ease the emotional strain.<\/li>\n\n\n\n<li><strong>The need for community and societal support<\/strong><br>It is important to cooperate with local welfare services and support organizations and find ways to reduce the burden on the entire household.<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"1. Causes of the dis&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2q13_duplication\/?lang=en\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":101,"featured_media":87631,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[97],"tags":[],"class_list":["post-86137","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-uncategorized"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/86137","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/101"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=86137"}],"version-history":[{"count":1,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/86137\/revisions"}],"predecessor-version":[{"id":86140,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/86137\/revisions\/86140"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/87631"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=86137"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=86137"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=86137"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}