{"id":86112,"date":"2024-11-14T13:31:06","date_gmt":"2024-11-14T04:31:06","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/3p25_3_deletion\/"},"modified":"2024-12-12T16:12:25","modified_gmt":"2024-12-12T07:12:25","slug":"3p25_3_deletion","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/3p25_3_deletion\/?lang=en","title":{"rendered":"About 3p25.3 deletion 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\/3p25_3_deletion\/?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\/3p25_3_deletion\/?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\/3p25_3_deletion\/?lang=en\/#3_Medical_Treatment\" >3. Medical Treatment<\/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\/3p25_3_deletion\/?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\/3p25_3_deletion\/?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>3p25.3 deletion syndrome is a genetic disorder caused by the deletion of part of the short arm of chromosome 3 (3p25.3). This deletion usually occurs as a new mutation, but in rare cases it can be transmitted genetically. This chromosomal deletion affects multiple genes involved in development, growth, and nervous system function, resulting in a variety of symptoms. Symptoms may vary in severity and content depending on the extent of the deletion and the type of gene affected.<\/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 3p25.3 deletion syndrome vary from person to person, but some of the main symptoms include:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Developmental delays and intellectual disability:<\/strong><br>Delays in the development of language, motor and social skills are common and may be accompanied by mild to moderate intellectual disability. Language development is particularly likely to be delayed.<\/li>\n\n\n\n<li><strong>Behavioral and psychological problems:<\/strong><br>Behavior similar to traits of Autism Spectrum Disorder (ASD) or Attention Deficit Hyperactivity Disorder (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a>) may be reported, as well as difficulties controlling behavior and impulsivity.<\/li>\n\n\n\n<li><strong>Physical characteristics:<\/strong><br>Facial features may be present, such as a broad forehead, a distinctive nose, abnormal eye shape, ear position or shape, and\/or abnormal limb and skeletal abnormalities.<\/li>\n\n\n\n<li><strong>Internal organ abnormalities<\/strong><br>Some patients may have cardiac or renal abnormalities that may require medical management.<\/li>\n\n\n\n<li><strong>Abnormal muscle tone:<\/strong><br>Low muscle tone (weak muscles) can cause difficulty in learning to walk and move around.<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_Medical_Treatment\"><\/span>3. Medical Treatment<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>There is no cure for 3p25.3 deletion syndrome, but support and management of individual symptoms can improve quality of life.<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Developmental support and therapy<\/strong><br>We support development through speech therapy, physical therapy, and occupational therapy, aiming to improve life skills. Individualized therapy plans are important.<\/li>\n\n\n\n<li><strong>Behavioral therapy and psychological supportBehavioral<\/strong><br>therapy and psychological support are provided to support behavioral problems. Cooperation with families and schools is also essential.<\/li>\n\n\n\n<li><strong>Internal Organ Management and Specialist Medical Care<\/strong><br>If you have any physical complications, such as cardiac or renal abnormalities, you will receive regular follow-up and necessary treatment from specialists.<\/li>\n\n\n\n<li><strong>Physical therapy and occupational therapy<\/strong><br>Appropriate physical therapy is provided to reduce muscle tone and improve motor function.<\/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 for 3p25.3 deletion syndrome depends on the individual patient&#8217;s symptoms, the extent of the deletion, and whether or not they receive appropriate support and medical care. <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/early-nipt-august-only\/\">Early<\/a> intervention and support can improve developmental delays and social skills in some cases, but many cases of long-term intellectual disability and behavioral problems require ongoing support. Proper medical and educational support can significantly improve the patient&#8217;s quality of life.<\/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>Raising a child with 3p25.3 deletion syndrome places a great burden on families.<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Burden of medical management:<\/strong><br>Requires physical health management, including cardiac and renal complications, and regular visits to specialists.<\/li>\n\n\n\n<li><strong>Burden of developmental support and education<\/strong><br>In order for children to receive individual support, they need support at home and special support at school. It is important for parents to be actively involved.<\/li>\n\n\n\n<li><strong>Financial burden:<\/strong><br>Medical expenses and care costs are often high and can place a strain on household finances. It is necessary to utilize public support systems and local welfare services.<\/li>\n\n\n\n<li><strong>The emotional toll:<\/strong><br>Worries about the child&#8217;s future and the everyday stresses of caregiving can weigh heavily on families. Support groups and connections to specialists can provide emotional support.<\/li>\n\n\n\n<li><strong>Support for local communities and welfare services<\/strong><br>It is important to utilize local support groups and welfare services 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\/3p25_3_deletion\/?lang=en\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":101,"featured_media":87563,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[97],"tags":[],"class_list":["post-86112","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\/86112","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=86112"}],"version-history":[{"count":1,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/86112\/revisions"}],"predecessor-version":[{"id":86115,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/86112\/revisions\/86115"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/87563"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=86112"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=86112"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=86112"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}