{"id":551,"date":"2024-01-09T15:15:08","date_gmt":"2024-01-09T21:15:08","guid":{"rendered":"https:\/\/wp.uthscsa.edu\/chromosome-18\/?page_id=551"},"modified":"2024-01-17T09:38:09","modified_gmt":"2024-01-17T15:38:09","slug":"clinical-assessment","status":"publish","type":"page","link":"https:\/\/wp.uthscsa.edu\/chromosome-18\/clinical-assessment\/","title":{"rendered":"Clinical Assessment"},"content":{"rendered":"<div class=\"wpb-content-wrapper\" id=\"wpb-content-root\"><p>[vc_row][vc_column width=&#8221;2\/3&#8243;][vc_column_text]<img loading=\"lazy\" decoding=\"async\" class=\"alignright wp-image-709\" src=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/wp-content\/uploads\/sites\/247\/2024\/01\/evaluationprocedures_450x300.jpg\" alt=\"\" width=\"300\" height=\"200\" \/>One of the major goals of the research center is to understand precisely how a change in chromosome 18 affects health and development. If eligibility criteria is met, you will be contacted and offered the opportunity to travel to San Antonio and be evaluated by our research team. We bring families to San Antonio to have them evaluated by our research team. Each family is evaluated by the same team of professionals using the same sets of tests and procedures. By using a standardized approach to evaluating participants, we ensure that we are getting the most reliable results possible.[\/vc_column_text][vc_column_text]<\/p>\n<h2>Eligibility<\/h2>\n<p>In order to be eligible for the series of clinical studies, participants must have completed all the steps in\u00a0<a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/enrollment\/\">enrollment<\/a>, including providing a blood sample amongst other steps in the evaluation process.<\/p>\n<p>Unfortunately, even if a family has provided blood samples and all the other documentation we request at enrollment, we cannot guarantee them a visit to our research center. Eligibility depends on our current funding as well as project priorities. If your family is eligible to come to San Antonio, our participant coordinator will contact you.<\/p>\n<h2>Clinical Assessment<\/h2>\n<p>Participants will undergo numerous evaluations if they come to San Antonio for assessments. Even if the study participant has already been in a similar evaluation process in his or her hometown, we repeat the evaluation process in San Antonio. Possible evaluations include:<\/p>\n<ul>\n<li>MRI<\/li>\n<li>Endocrinology<\/li>\n<li>Orthopedics<\/li>\n<li>Ophthalmology<\/li>\n<li>Genetics<\/li>\n<li>Neuropsychology<\/li>\n<li>Hearing<\/li>\n<li>Gastroenterology<\/li>\n<li>Neurology<\/li>\n<li>Dental<\/li>\n<li>Speech and Language<\/li>\n<li>GAIT Lab<\/li>\n<li>Psychiatry<\/li>\n<\/ul>\n<p><a class=\"carat-double\" href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/clinical-assessment\/evaluation\/\">Learn more purpose and procedures of the evaluations<\/a>[\/vc_column_text][vc_separator][vc_column_text]<\/p>\n<div class=\"wpb_text_column wpb_content_element \">\n<div class=\"wpb_wrapper\">\n<h2>Results<\/h2>\n<p>Participants will receive copies of the reports from the visits with the specialists at the Chromosome 18 Clinical Research Center. These reports may be provided to the individual\u2019s health care team to help in the management of medical and developmental concerns.<\/p>\n<\/div>\n<\/div>\n<div class=\"wpb_text_column wpb_content_element \">\n<div class=\"wpb_wrapper\">\n<h2>Not eligible for clinical studies?<\/h2>\n<p>We are frequently asked whether our team of collaborators will see patients who are not eligible for one of the clinical studies. Our investigators do see patients on a non-research basis and will be happy to see you in their individual clinics. However, it is important to understand that the Chromosome 18 Clinical Research Center will not cover the cost of these visits. As with other specialists that your child might see, you will need to check that your insurance will cover the costs. This might require your child\u2019s primary care provider to complete a referral to the provider in San Antonio. When setting up these appointments, you will need to tell both the provider and the insurer that this will be a\u00a0<strong>CLINICAL VISIT<\/strong>\u00a0and not a \u201cresearch visit\u201d. Your child\u2019s physician in your hometown will receive a clinical summary from each appointment.<\/p>\n<p>Please keep in mind that, if you seek an appointment with a provider in San Antonio, the results of the evaluation will not automatically be made available to the Research Center. If you would like the information of those visits to become part of the Research Center\u2019s data base, then we will need your permission to obtain those records for every doctor seen. This can easily be done by filling out a medical record release form as you see each of these providers.<\/p>\n<p>Although you will be responsible for all costs associated with a visit to San Antonio, the staff at the Research Center may be able to provide you with some assistance. If you are already enrolled in our Primary Research Study, we can:<\/p>\n<ol class=\"indent-list\">\n<li>Review your child\u2019s records and determine which specialists would be most appropriate<\/li>\n<li>Coordinate the visit so that multiple specialists can be seen in a timely fashion<\/li>\n<li>Make suggestions about hotels and tourist attractions<\/li>\n<li>Provide directions and other instructions to get to the appointments.<\/li>\n<\/ol>\n<\/div>\n<\/div>\n<p>[\/vc_column_text][vc_column_text]<\/p>\n<h3>Collaborators who see private patients in their clinics<\/h3>\n<p>[\/vc_column_text][vc_row_inner][vc_column_inner width=&#8221;1\/3&#8243;][vc_column_text]<\/p>\n<p class=\"close\"><strong>Otorhinolaryngology<br \/>\n<\/strong>(Ear, Nose and Throat)<br \/>\n<a>Brian Perry, M.D.<br \/>\n<\/a>Includes an ENT examination and possible ABR\/audiology testing, as ordered by Dr. Perry.<\/p>\n<p>[\/vc_column_text][\/vc_column_inner][vc_column_inner width=&#8221;1\/3&#8243;][vc_column_text]<\/p>\n<p class=\"close\"><strong>Endocrinology<br \/>\n<\/strong><a href=\"https:\/\/wp.uthscsa.edu\/chrome-18\/clinical-assessment\/LynchJ2@uthscsa.edu\">Jane Lynch, MD<\/a><br \/>\nIncludes an endocrinology examination and appropriate endocrinology blood work, which may include growth hormone stimulation testing and bone age X-rays.<\/p>\n<p>[\/vc_column_text][\/vc_column_inner][vc_column_inner width=&#8221;1\/3&#8243;][vc_column_text]<\/p>\n<p class=\"close\"><strong>Neuropsychology testing<br \/>\n<\/strong><a>Louise O\u2019Donnell, Ph.D.<br \/>\n<\/a>Includes neuropsychology testing appropriate for child\u2019s age and could also include interviews of parents or guardians.<\/p>\n<p>[\/vc_column_text][\/vc_column_inner][\/vc_row_inner][vc_row_inner][vc_column_inner width=&#8221;1\/3&#8243;][vc_column_text]<\/p>\n<p class=\"close\"><strong>Pediatric Neurology<br \/>\n<\/strong><a>Sidney W. Atkinson, M.D.<br \/>\n<\/a>Consists of a very thorough neurology examination.<\/p>\n<p>[\/vc_column_text][\/vc_column_inner][vc_column_inner width=&#8221;1\/3&#8243;][vc_column_text]<\/p>\n<p class=\"close\"><strong>Allergy and Immunology<br \/>\n<\/strong><a>Edward Brooks, M.D.<br \/>\n<\/a>Includes a thorough evaluation of the history of exposures and allergies.<\/p>\n<p>[\/vc_column_text][\/vc_column_inner][vc_column_inner width=&#8221;1\/3&#8243;][vc_column_text]<\/p>\n<p class=\"close\"><strong>Opthalmology<br \/>\n<\/strong><a>Martha Schatz, M.D.<br \/>\n<\/a>Includes acuity testing as well as an evaluation of the eyes.<\/p>\n<p>[\/vc_column_text][\/vc_column_inner][\/vc_row_inner][vc_column_text]These providers could become your child\u2019s treating specialists, if you so wish. This differs from research-funded evaluations, in which our providers can only make treatment recommendations.<\/p>\n<p>If you have any questions about this information, please call or email our Participant Coordinator, Catherine McCarthy,\u00a0<a href=\"tel:12105675321\">210-567-5321<\/a>,\u00a0<a href=\"mailto:mccarthyc@uthscsa.edu\">mccarthyc@uthscsa.edu<\/a>.[\/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 drilldown\" data-drilldown><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 menu-item-object-page menu-item-has-children menu-item-507\"><a 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href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/clinical-assessment\/\">Clinical Assessment<\/a>\n\t<ul class=\"sub-menu\">\n\t\t<li id=\"menu-item-644\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-644\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/clinical-assessment\/evaluation\/\">Evaluation Purpose and Procedures<\/a><\/li>\n\t<\/ul>\n<\/li>\n\t<li id=\"menu-item-645\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-645\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/clinical-dosage-map-instructions\/\">Clinical Dosage Map Instructions<\/a><\/li>\n\t<li id=\"menu-item-646\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-646\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/deletion-clinical-dosage-map-legend\/\">Deletion Clinical Dosage Map Legend<\/a><\/li>\n\t<li id=\"menu-item-647\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-647\"><a 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Map<\/a><\/li>\n\t\t<li id=\"menu-item-859\" class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-859\"><a href=\"https:\/\/genome.ucsc.edu\/cgi-bin\/hgTracks?db=hg19&#038;lastVirtModeType=default&#038;lastVirtModeExtraState=&#038;virtModeType=default&#038;virtMode=0&#038;nonVirtPosition=&#038;position=chr18%3A1%2D78077248&#038;hgsid=1884265652_EZW3C1gYccZy8K8mq1vjkNvPnA1w\">Phenotype Duplication Map<\/a><\/li>\n\t<\/ul>\n<\/li>\n\t<li id=\"menu-item-735\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-735\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/research-1\/publications\/\">Publications<\/a><\/li>\n<\/ul>\n<\/li>\n<li id=\"menu-item-509\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-has-children menu-item-509\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/our-program\/\">Our Program<\/a>\n<ul class=\"sub-menu\">\n\t<li id=\"menu-item-650\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-650\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/our-program\/current-studies\/\">Current Studies<\/a><\/li>\n<\/ul>\n<\/li>\n<li id=\"menu-item-510\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-510\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/enrollment\/\">Enrollment<\/a><\/li>\n<li id=\"menu-item-511\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-has-children menu-item-511\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/\">Resources<\/a>\n<ul class=\"sub-menu\">\n\t<li id=\"menu-item-651\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-has-children menu-item-651\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/\">Clinical Management Guides<\/a>\n\t<ul class=\"sub-menu\">\n\t\t<li id=\"menu-item-666\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-666\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/18q-summary\/\">What is 18q: A Sixty-Second Summary<\/a><\/li>\n\t\t<li id=\"menu-item-656\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-656\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/distal-18q-treatment-and-surveillance\/\">Distal 18q- Treatment and Surveillance<\/a><\/li>\n\t\t<li id=\"menu-item-657\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-657\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/proximal-18q-treatment-and-surveillance\/\">Proximal 18q- Treatment and Surveillance<\/a><\/li>\n\t\t<li id=\"menu-item-667\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-667\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/ring-18-summary\/\">What is Ring 18: A Sixty-Second 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href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/18p-treatment-surveillance\/\">18p- Treatment and Surveillance<\/a><\/li>\n\t\t<li id=\"menu-item-660\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-has-children menu-item-660\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/tetrasomy-18p-summary\/\">Tetrasomy 18p: Sixty-Second Summary<\/a>\n\t\t<ul class=\"sub-menu\">\n\t\t\t<li id=\"menu-item-662\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-662\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/tetrasomy-18p-treatment-and-surveillance-2\/initial-evaluations\/\">Initial Evaluations After Diagnosis<\/a><\/li>\n\t\t\t<li id=\"menu-item-663\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-663\"><a 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 href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/trisomy-18p-summary\/\">What is Trisomy 18p: A Sixty-Second Summary<\/a><\/li>\n\t\t<li id=\"menu-item-664\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-664\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/trisomy-18p-treatment-and-surveillance\/\">Trisomy 18p: Treatment and Surveillance<\/a><\/li>\n\t<\/ul>\n<\/li>\n<\/ul>\n<\/li>\n<li id=\"menu-item-512\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-512\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/contact-us\/\">Contact Us<\/a><\/li>\n<li id=\"menu-item-669\" class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-669\"><a href=\"https:\/\/www.chromosome18.org\/\">Chromosome 18 Registry &amp; Research Society<\/a><\/li>\n<\/ul><\/nav>\n            <div class=\"callout  \" >\n                    <\/p>\n<h3>Contact Us<\/h3>\n<p>If you have any questions about this information, please call or email our Participant Coordinator.<\/p>\n<p><strong>Catherine McCarthy<\/strong><br \/>\nPhone: <a href=\"tel:12105675321\">210-567-5321<\/a><br \/>\nEmail: <a href=\"mailto:mccarthyc@uthscsa.edu\">mccarthyc@uthscsa.edu<\/a><\/p>\n<\/div> \n        <a class=\"callout panel-mobile text-center colorized\" href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/\" title=\"Resources\" >\n            <span class=\"fa-stack fa-2x\">\n            <i class=\"fas fa-circle fa-stack-2x\"><\/i>\n            <i class=\"fas fa-fas fa-list-ul fa-stack-1x fa-inverse\"><\/i>\n            <\/span><h3 class=\" \">Resources<\/h3>\n        <\/a>[\/vc_column][\/vc_row]<\/p>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>[vc_row][vc_column width=&#8221;2\/3&#8243;][vc_column_text]One of the major goals of the research center is to understand precisely how a change in chromosome 18 affects health and development. If eligibility criteria is met, you will be contacted and offered the opportunity to travel to San Antonio and be evaluated by our research team. We bring families to San Antonio [&hellip;]<\/p>\n","protected":false},"author":326,"featured_media":709,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"categories":[],"class_list":["post-551","page","type-page","status-publish","has-post-thumbnail","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.7 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Clinical Assessment - Chromosome 18<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/clinical-assessment\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Clinical Assessment - Chromosome 18\" \/>\n<meta property=\"og:description\" content=\"[vc_row][vc_column width=&#8221;2\/3&#8243;][vc_column_text]One of the major goals of the research center is to understand precisely how a change in chromosome 18 affects health and development. If eligibility criteria is met, you will be contacted and offered the opportunity to travel to San Antonio and be evaluated by our research team. 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