{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T19:45:40Z","timestamp":1761767140880,"version":"3.37.3"},"reference-count":8,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2022,12,16]],"date-time":"2022-12-16T00:00:00Z","timestamp":1671148800000},"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":[[2023,5,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Hereditary sensory and autonomic neuropathies (HSANs) are a group of heterogeneous genetic disorders presenting predominantly with sensory and autonomic dysfunction. They are a diverse group of diseases of the peripheral nervous system characterized by profound distal sensory loss and various autonomic and motor disturbances.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>The primary objective of this study was to describe the clinical presentation of children with HSAN to paediatricians. We present clinical features and genetic etiology of patients with HSAN followed in a Canadian tertiary paediatric centre, including suggestions for their monitoring, management, and long-term follow-up.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>A retrospective chart review of all patients with HSAN followed from the years 2000 through 2021 was performed. Collected data consisted of patients\u2019 demographics, clinical characteristics, imaging, and management.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Eight patients were included. The average age at diagnosis was 3.19\u2005\u00b1\u20052.83 years. Insensitivity to pain (100%), dysautonomia (100%), global development delay (87.5%), emesis (62.5%), and self-injury (62.5%) were the most prevalent manifestations of HSAN. The most common co-morbidities were gastroesophageal reflux disease (50%), obstructive sleep apnea (37.5%), attention-deficit hyperactivity disorder (37.5%), and iron deficiency (37.5%). Management was multi-disciplinary, involving neurologists, orthopeds, developmental paediatricians, sleep specialists, and psychiatrists.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>HSANs are a diverse group of diseases, characterized by profound distal sensory loss, acral mutilations, and variable autonomic disturbances. It is important to recognize the diagnosis in the paediatrician\u2019s office in order to set up surveillance and prevent complications.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/pch\/pxac098","type":"journal-article","created":{"date-parts":[[2022,12,16]],"date-time":"2022-12-16T13:13:02Z","timestamp":1671196382000},"page":"97-101","source":"Crossref","is-referenced-by-count":3,"title":["Living without pain. Case series of patients with hereditary sensory and autonomic neuropathies in a Canadian tertiary care centre"],"prefix":"10.1093","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8817-3659","authenticated-orcid":false,"given":"Renitha","family":"Reddi","sequence":"first","affiliation":[{"name":"Royal College of Surgeons Ireland , Dublin , Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriella A","family":"Horvath","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Biochemical Genetics, University of British Columbia, BC Children's Hospital , Vancouver, British Columbia , Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2022,12,16]]},"reference":[{"key":"2023050404270489300_CIT0001","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1186\/1750-1172-2-39","article-title":"Hereditary sensory and autonomic neuropathies: types II, III, and IV","volume":"3","author":"Axelrod","year":"2007","journal-title":"Orphanet J Rare Dis"},{"key":"2023050404270489300_CIT0002","article-title":"Familial dysautonomia","author":"Bat-El Bar-Aluma","year":"2014","journal-title":"Genereviews"},{"key":"2023050404270489300_CIT0003","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1038\/nrneurol.2011.227","article-title":"Mechanisms of disease in hereditary sensory and autonomic neuropathies","volume":"8","author":"Rotthier","year":"2012","journal-title":"Nat Rev Neurol"},{"key":"2023050404270489300_CIT0004","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1007\/s11910-019-0974-3","article-title":"Hereditary sensory and autonomic neuropathies: Adding more to the classification","volume":"19","author":"Schwartzlow","year":"2019","journal-title":"Curr Neurol Neurosci Rep"},{"key":"2023050404270489300_CIT0005","doi-asserted-by":"crossref","first-page":"e568","DOI":"10.1212\/NXG.0000000000000568","article-title":"Expanding the genotypic spectrum of congenital sensory and autonomic neuropathies using whole-exome sequencing","volume":"7","author":"Palma","year":"2021","journal-title":"Neurology Genetics"},{"key":"2023050404270489300_CIT0006","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/s41439-021-00158-6","article-title":"The case of a patient with MIRAGE syndrome with familial dysautonomia-like symptoms","volume":"8","author":"Kawashima-Sonoyama","year":"2021","journal-title":"Hum Genome Var"},{"key":"2023050404270489300_CIT0007","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1007\/s10006-015-0486-5","article-title":"Hereditary sensory and autosomal peripheral neuropathy-type IV: case series and review of literature","volume":"19","author":"Ashwin","year":"2015","journal-title":"Oral Maxillofac Surg"},{"key":"2023050404270489300_CIT0008","doi-asserted-by":"crossref","first-page":"e00961","DOI":"10.1002\/mgg3.961","article-title":"De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy","volume":"7","author":"Tarailo-Graovac","year":"2019","journal-title":"Mol Genet Genomic Med"}],"container-title":["Paediatrics &amp; Child Health"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/pch\/article-pdf\/28\/2\/97\/50193569\/pxac098.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/pch\/article-pdf\/28\/2\/97\/50193569\/pxac098.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,4]],"date-time":"2023-05-04T04:27:25Z","timestamp":1683174445000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/pch\/article\/28\/2\/97\/6916884"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12,16]]},"references-count":8,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2022,12,16]]},"published-print":{"date-parts":[[2023,5,4]]}},"URL":"https:\/\/doi.org\/10.1093\/pch\/pxac098","relation":{},"ISSN":["1205-7088","1918-1485"],"issn-type":[{"type":"print","value":"1205-7088"},{"type":"electronic","value":"1918-1485"}],"subject":[],"published-other":{"date-parts":[[2023,5,1]]},"published":{"date-parts":[[2022,12,16]]}}}