{"id":18352,"date":"2024-11-05T07:30:16","date_gmt":"2024-11-05T15:30:16","guid":{"rendered":"https:\/\/www.kidsphysio.ca\/?page_id=18352"},"modified":"2025-01-02T09:05:07","modified_gmt":"2025-01-02T17:05:07","slug":"rare-genetic-disorders","status":"publish","type":"page","link":"https:\/\/www.kidsphysio.ca\/fr\/rare-genetic-disorders\/","title":{"rendered":"Troubles g\u00e9n\u00e9tiques rares"},"content":{"rendered":"<div data-elementor-type=\"wp-page\" data-elementor-id=\"18352\" class=\"elementor elementor-18352\" data-elementor-post-type=\"page\">\n\t\t\t\t<div class=\"elementor-element elementor-element-35e4c7fa e-flex e-con-boxed e-con e-parent\" data-id=\"35e4c7fa\" data-element_type=\"container\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;}\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t<div class=\"elementor-element elementor-element-2a180f81 e-con-full e-flex e-con e-child\" data-id=\"2a180f81\" data-element_type=\"container\">\n\t\t\t\t<div class=\"elementor-element elementor-element-c21293a exad-sticky-section-no exad-glass-effect-no elementor-widget elementor-widget-heading\" data-id=\"c21293a\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h1 class=\"elementor-heading-title elementor-size-default\">Troubles g\u00e9n\u00e9tiques rares<\/h1>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-77e8fd2 elementor-hidden-mobile e-con-full elementor-hidden-tablet e-flex e-con e-child\" data-id=\"77e8fd2\" data-element_type=\"container\">\n\t\t\t\t<div class=\"elementor-element elementor-element-7ead05a1 animated-slow exad-sticky-section-no exad-glass-effect-no elementor-invisible elementor-widget elementor-widget-image\" data-id=\"7ead05a1\" data-element_type=\"widget\" data-settings=\"{&quot;_animation&quot;:&quot;fadeIn&quot;}\" data-widget_type=\"image.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<img fetchpriority=\"high\" decoding=\"async\" width=\"640\" height=\"694\" src=\"https:\/\/www.kidsphysio.ca\/wp-content\/uploads\/2022\/05\/KPG_JumpingKid_WHITE-944x1024.png\" class=\"attachment-large size-large wp-image-6015\" alt=\"\" srcset=\"https:\/\/www.kidsphysio.ca\/wp-content\/uploads\/2022\/05\/KPG_JumpingKid_WHITE-944x1024.png 944w, https:\/\/www.kidsphysio.ca\/wp-content\/uploads\/2022\/05\/KPG_JumpingKid_WHITE-277x300.png 277w, https:\/\/www.kidsphysio.ca\/wp-content\/uploads\/2022\/05\/KPG_JumpingKid_WHITE-768x833.png 768w, https:\/\/www.kidsphysio.ca\/wp-content\/uploads\/2022\/05\/KPG_JumpingKid_WHITE-11x12.png 11w, https:\/\/www.kidsphysio.ca\/wp-content\/uploads\/2022\/05\/KPG_JumpingKid_WHITE.png 1358w\" sizes=\"(max-width: 640px) 100vw, 640px\" title=\"\">\t\t\t\t\t\t\t\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\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-55004ff7 e-flex e-con-boxed e-con e-parent\" data-id=\"55004ff7\" data-element_type=\"container\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t\t\t<div class=\"elementor-element elementor-element-49146e04 exad-sticky-section-no exad-glass-effect-no elementor-widget elementor-widget-text-editor\" data-id=\"49146e04\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<h3><b>Syndrome d'Angelman<\/b><\/h3><p>Angelman syndrome is a genetic disorder that mostly affects the nervous system. <span style=\"font-weight: 400;\">Les signes et sympt\u00f4mes comprennent:<\/span><\/p><ul><li><span style=\"font-weight: 400;\">Retard de d\u00e9veloppement s\u00e9v\u00e8re et troubles d\u2019apprentissage<\/span><\/li><li><span style=\"font-weight: 400;\">Mouvements saccad\u00e9s des bras et des jambes\u00a0<\/span><\/li><li><span style=\"font-weight: 400;\">Peut inclure des troubles du sommeil, des convulsions et des troubles de l'alimentation\u00a0<\/span><\/li><li><span style=\"font-weight: 400;\">D'importantes difficult\u00e9s de communication<\/span><\/li><\/ul><p><span style=\"font-weight: 400;\">The child can also experience motor issues such as tremors, wide-based gait, jerkiness, ataxia (presence of <\/span><span style=\"font-weight: 400;\">abnormal, uncoordinated movements), and loss of balance. Physiotherapy can assist by:\u00a0<\/span><\/p><ul><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Working on mobility, gross motor function, strength, and increasing bone density<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Monitoring for scoliosis<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Making recommendations for the use of orthotics<\/span><\/li><\/ul><h3><b>Syndrome de Kabuki<\/b><\/h3><p>Kabuki syndrome is a rare congenital disorder of genetic origin that can affect multiple parts of the body. Signs and symptoms include:\u00a0<\/p><ul><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Aspect facial caract\u00e9ristique\u00a0: microc\u00e9phalie, hypotonie, probl\u00e8mes oculaires, fente palatine<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">D\u00e9ficience intellectuelle l\u00e9g\u00e8re \u00e0 mod\u00e9r\u00e9e\u00a0<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Anomalies squelettiques, notamment anomalies de la colonne vert\u00e9brale et luxations articulaires<\/span><\/li><\/ul><p>Physiotherapy can assist children by introducing p<span style=\"font-weight: 400;\">lay therapy to help with gross motor development and strengthening.<\/span><\/p><h3><b>Prader-Willi Syndrome<\/b><\/h3><p>Prader\u2013Willi syndrome is a genetic disorder caused by a loss of function of certain genes on chromosome 15.\u00a0<span style=\"font-weight: 400;\">Les signes et sympt\u00f4mes comprennent:<\/span><\/p><ul><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Un trouble g\u00e9n\u00e9tique multisyst\u00e9mique caract\u00e9ris\u00e9 pendant la petite enfance par une l\u00e9thargie<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Diminution du tonus musculaire<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Faible succion et difficult\u00e9s d\u2019alimentation avec faible prise de poids<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">D\u00e9ficiences cognitives et croissance<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Carence hormonale\u00a0<\/span><\/li><\/ul><p><span style=\"font-weight: 400;\">Early intervention with physiotherapy can help in supporting children to meet their motor milestones. On-going play-based physiotherapy allows for increased endurance, strength, and development.<\/span><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-4f9c1ac4 elementor-section-height-min-height elementor-section-boxed elementor-section-height-default elementor-section-items-middle exad-glass-effect-no exad-sticky-section-no\" data-id=\"4f9c1ac4\" data-element_type=\"section\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;}\">\n\t\t\t\t\t\t\t<div class=\"elementor-background-overlay\"><\/div>\n\t\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-7f528748 exad-glass-effect-no exad-sticky-section-no\" data-id=\"7f528748\" 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-24dbb700 exad-sticky-section-no exad-glass-effect-no elementor-widget elementor-widget-heading\" data-id=\"24dbb700\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h1 class=\"elementor-heading-title elementor-size-default\">R\u00c9SERVEZ VOTRE \u00c9VALUATION INITIALE AUJOURD'HUI<\/h1>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-5d2247d6 exad-sticky-section-no exad-glass-effect-no elementor-widget elementor-widget-text-editor\" data-id=\"5d2247d6\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p>Proc\u00e9dez \u00e0 l'\u00e9tape suivante et faites de la sant\u00e9 de votre enfant une priorit\u00e9 !<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-5046f915 exad-sticky-section-no exad-glass-effect-no elementor-widget elementor-widget-eael-creative-button\" data-id=\"5046f915\" data-element_type=\"widget\" data-widget_type=\"eael-creative-button.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t        <div class=\"eael-creative-button-wrapper\">\n\n            <a class=\"eael-creative-button eael-creative-button--rayen\" href=\"https:\/\/www.kidsphysio.ca\/fr\/locations\/\" data-text=\"LET&#039;S GO\">\n\n\t    \n                <div class=\"creative-button-inner\">\n\n                    \n                    <span class=\"cretive-button-text\">RENDEZ-VOUS<\/span>\n\n                                    <\/div>\n\t                        <\/a>\n        <\/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>","protected":false},"excerpt":{"rendered":"<p>Rare Genetic Disorders Angelman Syndrome Angelman syndrome is a genetic disorder that mostly affects the nervous system. Signs and symptoms include: Severe developmental delay and learning disabilities Jerky movements of the arm and legs\u00a0 May include sleep disorders, seizures, and feeding disorders\u00a0 Significant communication difficulties The child can also experience motor issues such as tremors, [&hellip;]<\/p>","protected":false},"author":8,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"footnotes":""},"location_province":[],"class_list":["post-18352","page","type-page","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.kidsphysio.ca\/fr\/wp-json\/wp\/v2\/pages\/18352","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.kidsphysio.ca\/fr\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.kidsphysio.ca\/fr\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.kidsphysio.ca\/fr\/wp-json\/wp\/v2\/users\/8"}],"replies":[{"embeddable":true,"href":"https:\/\/www.kidsphysio.ca\/fr\/wp-json\/wp\/v2\/comments?post=18352"}],"version-history":[{"count":0,"href":"https:\/\/www.kidsphysio.ca\/fr\/wp-json\/wp\/v2\/pages\/18352\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.kidsphysio.ca\/fr\/wp-json\/wp\/v2\/media?parent=18352"}],"wp:term":[{"taxonomy":"location_province","embeddable":true,"href":"https:\/\/www.kidsphysio.ca\/fr\/wp-json\/wp\/v2\/location_province?post=18352"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}