{"id":82,"date":"2023-12-19T12:12:26","date_gmt":"2023-12-19T12:12:26","guid":{"rendered":"http:\/\/www.igclinic.ie\/?page_id=82"},"modified":"2023-12-19T12:12:26","modified_gmt":"2023-12-19T12:12:26","slug":"down-syndrome","status":"publish","type":"page","link":"http:\/\/www.igclinic.ie\/?page_id=82","title":{"rendered":"Down Syndrome"},"content":{"rendered":"\n<p class=\"wp-block-paragraph\">Down syndrome is a congenital disorder resulting from an extra copy (trisomy) of chromosome 21.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">The mechanisms by which increased dosage of genes on chromosome 21 leads to Down syndrome are as yet unknown.&nbsp; However, neuropathological changes associated with dementia in Down syndrome are typical of Alzheimer\u2019s disease.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Epidemiology<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Incidence: 1\/650-1\/1000<\/li>\n\n\n\n<li>All ethnic groups<\/li>\n\n\n\n<li>Male = Female<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Clinical Presentation<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Clinical features are variable. Trisomy 21 may present pre- or post-natally.<\/li>\n\n\n\n<li>Pre-natal:\n<ul class=\"wp-block-list\">\n<li>Miscarriage<\/li>\n\n\n\n<li>Abnormal maternal serum screening, increased hCG, inhibin-A.<\/li>\n\n\n\n<li>Ultrasound scanning: increased nuchal translucency, nasal bone hypoplasia, cardiac defect, double stomach bubble (secondary to duodenal atresia).<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>Post-natal:\n<ul class=\"wp-block-list\">\n<li>Hypotonia and feeding problems in infancy<\/li>\n\n\n\n<li>Dysmorphism<\/li>\n\n\n\n<li>Congenital anomalies, particularly congenital heart defects<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Physical Signs<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Dysmorphism<\/li>\n\n\n\n<li>Upslanting palpebral fissures, epicanthic folds, Brushfield spots<\/li>\n\n\n\n<li>Protruding tongue<\/li>\n\n\n\n<li>Brachycephaly<\/li>\n\n\n\n<li>Single palmar creases, clinodactyly, sandal gap<\/li>\n\n\n\n<li>Evidence of congenital heart defect<\/li>\n\n\n\n<li>Evidence of gastrointestinal obstruction<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Complications<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Congenital heart defects (40-50%), VSD is the most common, followed by AVSD, ASD, PDA and Tetralogy of Fallot.<\/li>\n\n\n\n<li>Short stature<\/li>\n\n\n\n<li>Hypothyroidism (20-40%)<\/li>\n\n\n\n<li>Diabetes mellitus (1%)<\/li>\n\n\n\n<li>Leukaemia, especially ALL (2%)<\/li>\n\n\n\n<li>Obstructive sleep apnoea<\/li>\n\n\n\n<li>Duodenal atresia\/ stenosis, hirschsprung disease<\/li>\n\n\n\n<li>Behavioural problems (10%)<\/li>\n\n\n\n<li>Seizures (8%)<\/li>\n\n\n\n<li>Dementia, mean age 50yrs+<\/li>\n\n\n\n<li>Atlantoaxial subluxation (15% on X-ray, few symptomatic)<\/li>\n\n\n\n<li>Eyes (refractive errors)<\/li>\n\n\n\n<li>Learning difficulties, average IQ 45-48, adults will require daily supervision.<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>Down syndrome is a congenital disorder resulting from an extra copy (trisomy) of chromosome 21. The mechanisms by which increased dosage of genes on chromosome 21 leads to Down syndrome are as yet unknown.&nbsp; However, neuropathological changes associated with dementia in Down syndrome are typical of Alzheimer\u2019s disease. Epidemiology Clinical Presentation Physical Signs Complications<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"default","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","ast-disable-related-posts":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"var(--ast-global-color-4)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"footnotes":""},"class_list":["post-82","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"http:\/\/www.igclinic.ie\/index.php?rest_route=\/wp\/v2\/pages\/82","targetHints":{"allow":["GET"]}}],"collection":[{"href":"http:\/\/www.igclinic.ie\/index.php?rest_route=\/wp\/v2\/pages"}],"about":[{"href":"http:\/\/www.igclinic.ie\/index.php?rest_route=\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"http:\/\/www.igclinic.ie\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"http:\/\/www.igclinic.ie\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=82"}],"version-history":[{"count":1,"href":"http:\/\/www.igclinic.ie\/index.php?rest_route=\/wp\/v2\/pages\/82\/revisions"}],"predecessor-version":[{"id":83,"href":"http:\/\/www.igclinic.ie\/index.php?rest_route=\/wp\/v2\/pages\/82\/revisions\/83"}],"wp:attachment":[{"href":"http:\/\/www.igclinic.ie\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=82"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}