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Symptoms in individuals with CdLS suggest that the peripheral nervous system (PNS) is involved, yet there is little direct evidence.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>Somatic nervous system was evaluated by conventional motor and sensory nerve conduction studies and autonomic nervous system by heart rate variability, sympathetic skin response and sudomotor testing. CdLS Clinical Score and genetic studies were also obtained.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Sympathetic skin response and sudomotor test were pathological in 35% and 34% of the individuals with CdLS, respectively. Nevertheless, normal values in large fiber nerve function studies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Autonomic nervous system (ANS) dysfunction is found in many individuals with Cornelia de Lange Syndrome, and could be related to premature aging.<\/jats:p><\/jats:sec>","DOI":"10.1186\/s13023-021-02082-y","type":"journal-article","created":{"date-parts":[[2021,10,30]],"date-time":"2021-10-30T11:02:43Z","timestamp":1635591763000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["High rate of autonomic neuropathy in Cornelia de Lange Syndrome"],"prefix":"10.1186","volume":"16","author":[{"given":"M. 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All the individuals with CdLS and controls gave informed consent for their participation.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"All the individuals with CdLS and controls gave informed consent for the publication of this work.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"458"}}