{"id":598,"date":"2024-01-09T15:33:51","date_gmt":"2024-01-09T21:33:51","guid":{"rendered":"https:\/\/wp.uthscsa.edu\/chromosome-18\/?page_id=598"},"modified":"2024-01-18T09:07:20","modified_gmt":"2024-01-18T15:07:20","slug":"structural-functional-biochemical","status":"publish","type":"page","link":"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/18p-treatment-surveillance\/structural-functional-biochemical\/","title":{"rendered":"Structural-Functional-Biochemical"},"content":{"rendered":"<div class=\"wpb-content-wrapper\"><p>[vc_row][vc_column width=&#8221;2\/3&#8243;][vc_column_text]<\/p>\n<ul>\n<li>Structural\n<ul>\n<li>Hernias (inguinal, umbilical) \u2014 22%<\/li>\n<li>Heart abnormalities \u2014 56%<\/li>\n<li>Cryptorchidism \u2014 14%<\/li>\n<li>Sacral agenesis \u2014 6%<\/li>\n<li>Myelomeningocele \u2014 3%<\/li>\n<\/ul>\n<\/li>\n<li>Functional\n<ul>\n<li>Respiratory distress and feeding difficulties<\/li>\n<li>Feeding problems<\/li>\n<li>Hypotonia<\/li>\n<\/ul>\n<\/li>\n<li>Biochemical\n<ul>\n<li>Jaundice<\/li>\n<li>Hypoglycemia in 8% and 5% were diagnosed with Panhypopituitarism<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<h3>Initial\u00a0 evaluations after diagnosis:<\/h3>\n<ul>\n<li><strong>Cerebral MRI\/ Neurology<\/strong>\n<ul>\n<li>Holoprosencephaly or HPE microform \u2014 13%<\/li>\n<li>Other MRI abnormalities \u2014 66%<\/li>\n<li>Seizures \u2014 13%<\/li>\n<li>Myelomeningocele \u2014 3%<\/li>\n<\/ul>\n<\/li>\n<li><strong>Ophthalmology<\/strong>\n<ul>\n<li>Ptosis \u2014 47%<\/li>\n<li>Strabismus \u2014 38% \u2022The exact gene responsible has not been identified but it is known to be within a small region between 1 and 1,192,031 Mb. Only persons with a deletion including this region have this risk for this condition.<\/li>\n<li>Myopia \u2014 17%<\/li>\n<li>Nystagmus \u2014 9%<\/li>\n<li>Congenital cataract \u2014 6%<\/li>\n<li>Optic nerve hypoplasia \u2014 6%<\/li>\n<\/ul>\n<\/li>\n<li><strong>Audiology and Otolaryngology<\/strong>\n<ul>\n<li>Within the total population of people with 18p deletions:\n<ul>\n<li>Conductive hearing loss \u2013 22%. The exact gene responsible has not been identified but it is known to be within a small region between 1 and 2,931,532 Mb. Only persons with a deletion including this region have this risk for this condition.<\/li>\n<li>Sensorineural hearing loss \u2013 8%. The exact gene responsible has not been identified but it is known to be within a small region between 1 and1,192,031Mb. Only persons with a deletion including this region have this risk for this condition.<\/li>\n<li>Narrow ear canals \u2013 2%<\/li>\n<\/ul>\n<\/li>\n<li><strong>Thyroid levels<\/strong>\n<ul>\n<li>thyroid dysfunction \u2014 17%\n<ul>\n<li>\n<ul>\n<li>Secondary hypothyroidism is the most common<\/li>\n<li>Antibody positive hypothyroidism is less common<\/li>\n<li>Hyperthyroidism has been reported<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<\/li>\n<li><strong>Cardiology<\/strong>\n<ul>\n<li>cardiac abnormality \u2013 56% of those who had ECG\n<ul>\n<li>ASD or VSD \u2013 40%<br \/>\n\u2022Tetralogy of Fallot \u2013 15%<\/p>\n<ul>\n<li>\n<ul>\n<li>The exact gene responsible has not been identified but it is known to be within a region between 1 and 9,148,02Mb. Only persons with a deletion including this region have this risk for this condition.<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<\/li>\n<li>The actual incidence of heart defects may be higher as ultrasound and ECG evaluations have not been consistently been performed on all affected individuals.<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<ul>\n<li>\n<ul>\n<li><strong>Orthopedic<\/strong>\n<ul>\n<li>Orthopedics problems \u2013 47%:\n<ul>\n<li>Scoliosis or kyphosis \u2013 33%. The exact gene responsible has not been identified but it is known to be within a small region between 1 and 2,931,532 Mb. Only persons with a deletion including this region have this risk for this condition.<\/li>\n<li>Pectus excavatum \u2013 29%<\/li>\n<li>Pes planus \u2013 15%<\/li>\n<li>Sacral agenesis \u00a0\u2013 3%<\/li>\n<li>Hip dysplasia \u2013 3%<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<ul>\n<li>\n<ul>\n<li><strong>Renal ultrasound<\/strong>\n<ul>\n<li>Kidney abnormality \u2013\u00a0 14% \u2013 hydronephrosis or malformations<\/li>\n<li>The actual incidence of kidney abnormalities may be different as abdominal ultrasound was not performed on all individuals<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<h2>Referrals to:<\/h2>\n<ul>\n<li><strong>Genetics follow-up<\/strong>\n<ul>\n<li>Genetics follow-up may be\u00a0 necessary if parental chromosomes have not been evaluated to rule out inherited rearrangement. ~12% of the participants in our study have a parent with a balanced rearrangement. Even if no other children are planned, if one parent has a balanced rearrangement then their other children or the siblings of that parent are a risk for having the same rearrangement and consequently have a very high risk of passing on an unbalanced chromosome compliment.<\/li>\n<li>A genetics follow-up may also be indicated if the original diagnosis was performed using cytogenetic techniques or low resolution microarray technology. A high resolution SNP or CGH microarray can determine exactly which genes are involved in the deletion. This information will become increasingly important over time as\u00a0 gene-specific interventions are developed.<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p><strong>Early intervention\/developmental services<\/strong><\/p>\n<ul>\n<li>Developmental delay \u2013 100%. Prompt referral to a program the includes physical, occupational and speech therapy is important in order maximize their development.<\/li>\n<li>Speech delay \u2013 100%\n<ul>\n<li>Articulation problems \u2013 49%<\/li>\n<li>Delayed speech development \u2013 30%<\/li>\n<li>Apraxia \u2013 12%<\/li>\n<li>Non-verbal \u2013 9%<\/li>\n<\/ul>\n<\/li>\n<li>Motor delay \u2013 96%<\/li>\n<li>Hypotonia \/ mixed tome abnormality \u2013 84%<\/li>\n<li>Referral to Chromosome 18 Registry &amp; Research Society\n<ul>\n<li>The Chromosome 18 Registry is a parent support organization that provides family members with the opportunity to meet and learn from those who have gone before them.\u00a0 These are complex conditions to manage even in the least affected children making the establishment of a network of support a crucial component for maximizing the affected child\u2019s potential. The Registry has annual national and international conferences, regional get-togethers and social media outlets, all with programs for parents, siblings and affected\u00a0 adults.\u00a0 The Registry works closely with and financially supports the Chromosome 18 Clinical Research Center. (www.chromosome18.org)<\/li>\n<\/ul>\n<\/li>\n<li>Referral to the Chromosome 18 Clinical Research Center\n<ul>\n<li>The goal of the Chromosome 18 Clinical Research Center is to make the chromosome 18 abnormalities the first treatable chromosome abnormalities. Anyone with any chromosome 18 abnormality is eligible to enroll and encouraged to enroll. Once enrolled, participants have the opportunity to\u00a0 be involved in longitudinal studies of developmental progress, and when available, other studies\u00a0 that could include surveys or treatment trials.\u00a0 Families enrolled in the Research Center will also be the first to know new information about the conditions when it becomes available. Enrollment is a key part of proactive clinical management (www.pediatrics.uthscsa.edu\/centers\/chromosome18)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p><strong>Closely monitor and manage<\/strong>:<\/p>\n<ul>\n<li>Failure to thrive\/ growth failure\n<ul>\n<li>Weight gain\n<ul>\n<li>Due to their hypotonia, suckling or feeding may be more difficult for the child. Children &lt;3 years who are failing to meet expected rates of weight gain should be evaluated for placement of a feeding tube.<\/li>\n<li>In addition, many affected children have gastroesophageal reflux, which increases not only their risk for aspiration, but also for pain, discomfort or emesis after feeding.\u00a0 Children &lt;3 years who are failing to meet expected rates of weight gain should be evaluated for reflux .<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>[\/vc_column_text][\/vc_column][vc_column width=&#8221;1\/3&#8243;]<nav id=\"subnav\" class=\"null\" aria-label=\"Sub navigation for Chromosome 18 Subnav\"><ul id=\"menu-chromosome-18-subnav\" class=\"subnav vertical menu accordion-menu\" data-accordion-menu><li id=\"menu-item-506\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-home menu-item-506\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/\">Home<\/a><\/li>\n<li id=\"menu-item-507\" class=\"menu-item menu-item-type-post_type 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href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/tetrasomy-18p-treatment-and-surveillance-2\/potential-conditions\/\">Potential Conditions in a Neonate<\/a><\/li>\n\t\t\t<li id=\"menu-item-661\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-661\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/tetrasomy-18p-treatment-and-surveillance-2\/immediate-referrals\/\">Immediate Referrals to<\/a><\/li>\n\t\t<\/ul>\n<\/li>\n\t\t<li id=\"menu-item-851\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-851\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/tetrasomy-18p-treatment-and-surveillance-2\/\">Tetrasomy 18p: Treatment and Surveillance<\/a><\/li>\n\t\t<li id=\"menu-item-668\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-668\"><a 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Society<\/a><\/li>\n<\/ul><\/nav>[\/vc_column][\/vc_row]<\/p>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>[vc_row][vc_column width=&#8221;2\/3&#8243;][vc_column_text] Structural Hernias (inguinal, umbilical) \u2014 22% Heart abnormalities \u2014 56% Cryptorchidism \u2014 14% Sacral agenesis \u2014 6% Myelomeningocele \u2014 3% Functional Respiratory distress and feeding difficulties Feeding problems Hypotonia Biochemical Jaundice Hypoglycemia in 8% and 5% were diagnosed with Panhypopituitarism Initial\u00a0 evaluations after diagnosis: Cerebral MRI\/ Neurology Holoprosencephaly or HPE microform \u2014 13% [&hellip;]<\/p>\n","protected":false},"author":326,"featured_media":398,"parent":567,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"categories":[],"class_list":["post-598","page","type-page","status-publish","has-post-thumbnail","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.8 - 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