{"id":86128,"date":"2024-11-14T13:28:26","date_gmt":"2024-11-14T04:28:26","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/2q31_1\/"},"modified":"2024-12-12T16:29:47","modified_gmt":"2024-12-12T07:29:47","slug":"2q31_1","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/2q31_1\/?lang=en","title":{"rendered":"About 2q31.1 Microdeletion 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\/2q31_1\/?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\/2q31_1\/?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\/2q31_1\/?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\/2q31_1\/?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\/2q31_1\/?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>2q31.1 microdeletion syndrome is a genetic disorder caused by a small genetic deletion in the 2q31.1 region of the long arm of chromosome 2. The deletion usually occurs as a new mutation and is unlikely to be inherited from parents. The extent of the deletion may affect different genes, which may affect the type and severity of symptoms. This genetic region contains important genes involved in development, growth, and other bodily functions, so the deletion can have a variety of effects.<\/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 2q31.1 microdeletion syndrome vary depending on the extent and effect of the deletion, but common symptoms include:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Developmental delay 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. Walking and speech may be delayed.<\/li>\n\n\n\n<li><strong>Physical Features and Anomalies<\/strong><br>Physical features may include abnormalities of the fingers (e.g. syndactyly, brachydactyly), distinctive facial features, and abnormal body proportions.<\/li>\n\n\n\n<li><strong>Behavioural and psychological problems<\/strong><br>Behaviours associated with 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 present. Behavioural difficulties are common and may include impulsivity and anxiety.<\/li>\n\n\n\n<li><strong>Low Muscle Tone (Hypotonia)<\/strong><br>Hypotonia (weak muscles) may make walking and exercise difficult.<\/li>\n\n\n\n<li><strong><\/strong><br>Some patients may have abnormalities of the heart, kidneys, and digestive system. Individual symptoms vary but should be managed appropriately&nbsp;<strong>.<\/strong><\/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>Treatment for 2q31.1 microdeletion syndrome is primarily focused on providing support for symptoms, which may include:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Developmental support and therapy<\/strong><br>Developmental support is provided using speech therapy, physical therapy, and occupational therapy. Individualized treatment plans are required, and early intervention is effective.<\/li>\n\n\n\n<li><strong>Behavioral therapy and psychological support<\/strong><br>Behavioral therapy and counseling may be provided to support behavioral problems. Cooperation with families and educational institutions is important to improve social skills.<\/li>\n\n\n\n<li><strong>Management of physical abnormalities<\/strong><br>: Physical complications such as heart or kidney problems will be examined and managed by specialists and, if necessary, surgical procedures may be considered.<\/li>\n\n\n\n<li><strong>Physical therapy and occupational therapy<\/strong><br>Physical therapy and occupational therapy are performed to reduce muscle tone and improve motor skills. The goal is to improve physical 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 2q31.1 microdeletion syndrome varies depending on the extent of the deletion, the severity of symptoms, and the type of support provided. With appropriate intervention and medical support, it is possible to improve development and quality of life. However, intellectual disabilities and behavioral problems often persist, and long-term support is often required. It is important to work with medical and educational experts to provide support tailored to individual needs.<\/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 2q31.1 microdeletion syndrome face many everyday burdens.<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Medical burden<\/strong><br>Managing physical complications, such as heart, kidney and hand problems, can be a medical burden. Regular check-ups and treatments are required.<\/li>\n\n\n\n<li><strong>The burden of developmental support<\/strong><br>Individualized therapy and special education are required, and parents need to be actively involved. Support at home also plays an important role.<\/li>\n\n\n\n<li><strong>Financial burden:<\/strong><br>Medical expenses and developmental support costs can add up and affect household finances. It is necessary to utilize welfare services and public assistance.<\/li>\n\n\n\n<li><strong>Emotional burden<\/strong><br>Concerns about the child&#8217;s health and development and the stresses of day-to-day caregiving can weigh heavily on parents and other family members. Family support groups and professional counselling may help.<\/li>\n\n\n\n<li><strong>The need for social support<\/strong><br>It is important to find ways to reduce the burden on the entire household by coordinating with local welfare services and support groups.<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"1. Causes of the dis&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2q31_1\/?lang=en\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":101,"featured_media":87237,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[97],"tags":[],"class_list":["post-86128","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\/86128","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=86128"}],"version-history":[{"count":1,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/86128\/revisions"}],"predecessor-version":[{"id":86133,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/86128\/revisions\/86133"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/87237"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=86128"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=86128"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=86128"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}