{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T02:41:16Z","timestamp":1781664076359,"version":"3.54.5"},"reference-count":18,"publisher":"The Endocrine Society","issue":"1","license":[{"start":{"date-parts":[[2023,7,14]],"date-time":"2023-07-14T00:00:00Z","timestamp":1689292800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"name":"Sherman Foundation"},{"name":"Eurostars program"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,12,21]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Context<\/jats:title>\n                  <jats:p>Monocarboxylate transporter 8 (MCT8) deficiency is a rare neurodevelopmental and metabolic disorder, with daily care posing a heavy burden on caregivers. A comprehensive overview of these complex needs and daily care challenges is lacking.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Design<\/jats:title>\n                  <jats:p>We established an international prospective registry to systemically capture data from parents and physicians caring for patients with MCT8 deficiency. Parent-reported data on complex needs and daily care challenges were extracted.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Between July 17, 2018, and May 16, 2022, 51 patients were registered. Difficulties in daily life care were mostly related to feeding and nutritional status (17\/33 patients), limited motor skills (12\/33 patients), and sleeping (11\/33 patients). Dietary advice was provided for 11\/36 patients. Two of 32 patients were under care of a cardiologist. Common difficulties in the diagnostic trajectory included late diagnosis (20\/35 patients) and visiting a multitude of specialists (15\/35 patients). Median diagnostic delay was significantly shorter in patients born in or after 2017 vs before 2017 (8 vs 19 months, P &amp;lt; .0001).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Feeding and sleeping problems and limited motor skills mostly contribute to difficulties in daily care. The majority of patients did not receive professional dietary advice, although being underweight is a key disease feature, strongly linked with poor survival. Despite sudden death being a prominent cause of death, potentially related to the cardiovascular abnormalities frequently observed, patients were hardly seen by cardiologists. These findings can directly improve patient-centered multidisciplinary care and define patient-centered outcome measures for intervention studies in patients with MCT8 deficiency.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/clinem\/dgad412","type":"journal-article","created":{"date-parts":[[2023,7,12]],"date-time":"2023-07-12T20:50:42Z","timestamp":1689195042000},"page":"e330-e335","source":"Crossref","is-referenced-by-count":14,"title":["Parent Perspectives on Complex Needs in Patients With MCT8 Deficiency: An International, Prospective, Registry Study"],"prefix":"10.1210","volume":"109","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6960-5775","authenticated-orcid":false,"given":"Ferdy S","family":"van Geest","sequence":"first","affiliation":[{"name":"Academic Center for Thyroid Diseases, Department of Internal Medicine, Erasmus Medical Center , 3015 CN Rotterdam , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6879-7392","authenticated-orcid":false,"given":"Stefan","family":"Groeneweg","sequence":"additional","affiliation":[{"name":"Academic Center for Thyroid Diseases, Department of Internal Medicine, Erasmus Medical Center , 3015 CN Rotterdam , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veronica M","family":"Popa","sequence":"additional","affiliation":[{"name":"Patient Advisory Council of RD Connect and MCT8-AHDS Foundation , Oklahoma, OK 74464 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2328-7705","authenticated-orcid":false,"given":"Milou A M","family":"Stals","sequence":"additional","affiliation":[{"name":"Academic Center for Thyroid Diseases, Department of Internal Medicine, Erasmus Medical Center , 3015 CN Rotterdam , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5248-863X","authenticated-orcid":false,"given":"W Edward","family":"Visser","sequence":"additional","affiliation":[{"name":"Academic Center for Thyroid Diseases, Department of Internal Medicine, Erasmus Medical Center , 3015 CN Rotterdam , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2023,7,14]]},"reference":[{"key":"2023122122191733000_dgad412-B1","author":"Bernal"},{"key":"2023122122191733000_dgad412-B2","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1016\/S0083-6729(05)71004-9","article-title":"Thyroid hormones and brain development","volume":"71","author":"Bernal","year":"2005","journal-title":"Vitam Horm"},{"issue":"2","key":"2023122122191733000_dgad412-B3","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1152\/physrev.00030.2013","article-title":"Thyroid hormone regulation of 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