{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T13:37:21Z","timestamp":1777901841830,"version":"3.51.4"},"reference-count":16,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2023,8,1]],"date-time":"2023-08-01T00:00:00Z","timestamp":1690848000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,8,24]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>To evaluate the knowledge and experiences of healthcare workers in the management of neurometabolic disorders.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>A cross-sectional study was carried out among the 132 participants of a continued medical education program conducted in the Department of Pediatrics at a tertiary-care teaching hospital. A questionnaire-based feedback form was circulated among the participants, and their responses were analyzed.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Ninety-three responses were analyzed. The most common pediatric illnesses identified were infections (91%), nutritional (91%), birth-related injuries (44.4%) and metabolic disorders (44.4%). Consanguinity (81.5%) and genetic heterogeneity (42.4%) were recognized as most important causes of neurometabolic disorders. Important steps identified for prevention were prenatal testing (65.6%) and newborn screening at birth (61%); while for improving the diagnosis were routine availability of metabolic investigations (65.3%) and screening at birth (46.6%). Most respondents (58.7%) expressed discomfort in managing a case with inherited metabolic defect due to a lack of knowledge (46.8%) and diagnostic facilities (44.6%). Despite access to testing in the majority, a high cost of testing was noticed for biochemical and genetic investigations. The majority of participants (73%) considered some of the inherited metabolic disorders as treatable. Dietary substitution (89.3%), enzyme replacement (69%), cofactor replacement (53.6%), gene therapy (35.7%) and regular dialysis (16.7%) were considered the treatment options.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>In spite of growing awareness of inherited metabolic disorders, there are still gaps in knowledge among healthcare workers. It is challenging to diagnose and manage these disorders. Cost-reduction of diagnostic tests, routine newborn screening and increased educational activities are key challenges to be addressed.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/tropej\/fmad023","type":"journal-article","created":{"date-parts":[[2023,8,24]],"date-time":"2023-08-24T14:59:10Z","timestamp":1692889150000},"source":"Crossref","is-referenced-by-count":1,"title":["Knowledge and experiences of healthcare workers in managing children with neurometabolic disorders in a developing country: a cross-sectional study"],"prefix":"10.1093","volume":"69","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5747-8975","authenticated-orcid":false,"given":"Arushi Gahlot","family":"Saini","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Postgraduate Institute of Medical Education and Research , Chandigarh 160012, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6909-1500","authenticated-orcid":false,"given":"Bhanudeep","family":"Singanamalla","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, KIMS Cuddles Hospital , Hyderabad 500084, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3494-8863","authenticated-orcid":false,"given":"Pradeep Kumar","family":"Gunasekaran","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, All India Institute of Medical Sciences , Jodhpur, Rajasthan 342005, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gunjan","family":"Didwal","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Postgraduate Institute of Medical Education and Research , Chandigarh 160012, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Savita Verma","family":"Attri","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Postgraduate Institute of Medical Education and Research , Chandigarh 160012, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2023,8,24]]},"reference":[{"key":"2023082414564231800_fmad023-B1","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1016\/j.pcl.2017.11.002","article-title":"Inborn errors of metabolism overview: pathophysiology, manifestations, evaluation, and management","volume":"65","author":"Saudubray","year":"2018","journal-title":"Pediatr Clin North Am"},{"key":"2023082414564231800_fmad023-B2","doi-asserted-by":"crossref","first-page":"301","DOI":"10.31887\/DCNS.2018.20.4\/jmsaudubray","article-title":"An overview of inborn errors of metabolism affecting the brain: from neurodevelopment to neurodegenerative disorders","volume":"20","author":"Saudubray","year":"2018","journal-title":"Dialogues Clin 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