{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T05:11:21Z","timestamp":1772169081900,"version":"3.50.1"},"reference-count":25,"publisher":"F1000 Research Ltd","license":[{"start":{"date-parts":[[2020,10,21]],"date-time":"2020-10-21T00:00:00Z","timestamp":1603238400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100010414","name":"Health Research Board","doi-asserted-by":"publisher","award":["NCHF-2017-005"],"award-info":[{"award-number":["NCHF-2017-005"]}],"id":[{"id":"10.13039\/100010414","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100014364","name":"The National Children\u2019s Research Centre","doi-asserted-by":"crossref","award":["D\/17\/7"],"award-info":[{"award-number":["D\/17\/7"]}],"id":[{"id":"10.13039\/100014364","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["hrbopenresearch.org"],"crossmark-restriction":false},"short-container-title":["HRB Open Res"],"abstract":"<ns4:p>\n                    <ns4:bold>Background:<\/ns4:bold>\n                    Down\u2019s syndrome (DS) is the most common chromosomal abnormality globally. Ireland has one of the highest rates of DS in the western world with an incidence of 1:444 live births. Congenital heart disease (CHD) and pulmonary hypertension (PH) are the commonest morbidities affecting the cardiovascular system in DS. PH is associated with significant morbidity and an increase risk of mortality. The impact of the diagnosis of DS, the presence of CHD and the associated PH on myocardial function during transition and over the first 2 years of age in this population is not well defined and warrants further study. In particular, serial measurements of pulmonary pressures in this population over the first week of age are lacking. This study aims to characterise myocardial function and pulmonary haemodynamics in infants with Down syndrome during the transitional period (over the first week of age) and throughout the first two years of age.\n                  <\/ns4:p>\n                  <ns4:p>\n                    <ns4:bold>Methods:<\/ns4:bold>\n                    A prospective, observational study utilising novel echocardiography techniques to assess myocardial function and pulmonary haemodynamics over the first two years of age in infants with Down Syndrome. A population of healthy infants without CHD or a diagnosis of DS will be recruited as controls. This study will be conducted across the three Dublin maternity units.\n                  <\/ns4:p>\n                  <ns4:p>\n                    <ns4:bold>Discussion:<\/ns4:bold>\n                    In total, 70 babies with DS have been enrolled into this study with 292 echocardiograms performed to date. Further evaluation of cardiac performance in DS infants with and without CHD may yield more insight into the pathophysiology of cardiac dysfunction and pulmonary hypertension that are recognised features in these patients. This could aid in our ability to monitor and treat patients, as well as improve our ability to predict outcomes.\n                  <\/ns4:p>","DOI":"10.12688\/hrbopenres.13168.1","type":"journal-article","created":{"date-parts":[[2020,10,21]],"date-time":"2020-10-21T10:35:02Z","timestamp":1603276502000},"page":"77","update-policy":"https:\/\/doi.org\/10.12688\/hrbopenres.crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Longitudinal assessment of cardiac function in infants with Down\u2019s syndrome using novel echocardiography techniques \u2013 project protocol"],"prefix":"10.12688","volume":"3","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4778-3888","authenticated-orcid":false,"given":"Aisling","family":"Smith","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6798-2158","authenticated-orcid":false,"given":"Eleanor","family":"Molloy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan","family":"Miletin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Curley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joanne","family":"Balfe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Orla","family":"Franklin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Afif","family":"EL-Khuffash","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"2560","published-online":{"date-parts":[[2020,10,21]]},"reference":[{"key":"ref-1","first-page":"248-9","article-title":"Trisomy 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We performed three scans over the first week of age as serial data assessing pulmonary haemodynamics and myocardial function over the early newborn period in this cohort is currently lacking. In addition, we were keen to track such changes and assess if pulmonary vascular resistance fell at all between the first to third scan.&nbsp;Regarding inviting patients back at 6 months of age this was done for practical reasons. Infants with T21 often have many clinic appointments and are getting established with multidisciplinary teams in their early months of age. We did not want the research scan to be an extra request on parents during these busy months so decided to invite them back at 6 months of age.&nbsp;Best wishes,Aisling","URL":"https:\/\/hrbopenresearch.org\/articles\/3-77\/v1#referee-comment-3208","order":1,"name":"referee-comment-3208","label":"Referee Comment","group":{"name":"article-reports","label":"Article Reports"}},{"value":"<b>Aisling Smith<\/b>; \n<i>Posted: 26 Jan 2021<\/i>; In response to the first query, we wanted to serially assess transitional changes occurring shortly after birth as many infants with T21 still have evidence of pulmonary hypertension by day 5 based on our preliminary data and we required an equal number of echocardiograms on the control infants in order have have directly comparable data sets.&nbsp;  In response to the second query, deferring the 4th echocardiogram to 6 months was intentional as many of our infants with T21 are undergoing assessments at 3 months of age with the Irish cardiac centre in preparation for surgical correction of congenial heart defects and we didn't want to place an extra burden of assessments on families at this time.","URL":"https:\/\/hrbopenresearch.org\/articles\/3-77\/v1#referee-comment-3265","order":2,"name":"referee-comment-3265","label":"Referee Comment","group":{"name":"article-reports","label":"Article Reports"}},{"value":"10.21956\/hrbopenres.14292.r28197, Neil Patel, Department of Neonatology, Royal Hospital for Children, Glasgow, UK, 24 May 2021, version 1, indexed","URL":"https:\/\/hrbopenresearch.org\/articles\/3-77\/v1#referee-response-28197","order":3,"name":"referee-response-28197","label":"Referee Report","group":{"name":"article-reports","label":"Article Reports"}},{"value":"Health Research Board Ireland [NCHF-2017-005]\n\nThe National Children\u2019s Research Centre funded PhD fees associated with this work [D\/17\/7]. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.","order":4,"name":"grant-information","label":"Grant Information"},{"value":"This is an open access article distributed under the terms of the Creative Commons Attribution Licence, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.","order":0,"name":"copyright-info","label":"Copyright"}]}}