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Research Article
Juan Pie
Universidad de Zaragoza Facultad de Medicina
Corresponding Author
ORCiD: https://orcid.org/0000-0003-3203-6254
License:
This work is licensed under a CC BY 4.0 License. Read Full License
Background
Cornelia de Lange Syndrome (CdLS) is a rare congenital disorder characterized by typical facial features, growth failure, limb abnormalities, and gastroesophageal dysfunction that may be caused by mutations in several genes that disrupt gene regulation early in development. Symptoms in individuals with CdLS suggest that the peripheral nervous system (PNS) is involved, yet there is little direct evidence.
Method
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.
Results
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.
Conclusions
Autonomic nervous system (ANS) dysfunction is found in many individuals with Cornelia de Lange syndrome, and could be related to premature aging.
Keywords
Cornelia de Lange Syndrome, CdLS, small fiber nerve, peripheral neuropathy, autonomic neuropathy, sudomotor test, sweat gland density, NIPBL gene
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Peer Review Timeline
CURRENT STATUS: Under Review
Version 1
Posted 07 Jun, 2021
No community comments so far
Editorial decision: Minor revision
On 23 Jun, 2021
Review #2 received
Received 15 Jun, 2021
Review #1 received
Received 12 Jun, 2021
Reviews received
Received 31 May, 2021
Reviewer #2 agreed
On 30 May, 2021
Reviewer #1 agreed
On 30 May, 2021
Reviewers invited
Invitations sent on 28 May, 2021
Editor assigned
On 21 May, 2021
Submission checks complete
On 21 May, 2021
Editor invited
On 21 May, 2021
First submitted
On 17 May, 2021
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
Subject Areas
Internal Medicine
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A new preprint design is coming!
We have improved readability, clarity, accessibility, and opportunities for engagement.
This preprint is under consideration at Orphanet Journal of Rare Diseases. A preprint is a preliminary version of a manuscript that has not completed peer review at a journal. Research Square does not conduct peer review prior to posting preprints. The posting of a preprint on this server should not be interpreted as an endorsement of its validity or suitability for dissemination as established information or for guiding clinical practice.
Learn more about In Review
Research Article
Juan Pie
Universidad de Zaragoza Facultad de Medicina
Corresponding Author
ORCiD: https://orcid.org/0000-0003-3203-6254
Badges
Prescreen
This manuscript passed our Prescreen assessment
Complete author information
Appropriate declaration statements
Potential risks to human health
Prescreen
Peer Review Timeline
CURRENT STATUS: Under Review
Version 1
Posted 07 Jun, 2021
No community comments so far
Editorial decision: Minor revision
On 23 Jun, 2021
Review #2 received
Received 15 Jun, 2021
Review #1 received
Received 12 Jun, 2021
Reviews received
Received 31 May, 2021
Reviewer #2 agreed
On 30 May, 2021
Reviewer #1 agreed
On 30 May, 2021
Reviewers invited
Invitations sent on 28 May, 2021
Editor assigned
On 21 May, 2021
Submission checks complete
On 21 May, 2021
Editor invited
On 21 May, 2021
First submitted
On 17 May, 2021
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
Subject Areas
Internal Medicine
License:
This work is licensed under a CC BY 4.0 License. Read Full License
Background
Cornelia de Lange Syndrome (CdLS) is a rare congenital disorder characterized by typical facial features, growth failure, limb abnormalities, and gastroesophageal dysfunction that may be caused by mutations in several genes that disrupt gene regulation early in development. Symptoms in individuals with CdLS suggest that the peripheral nervous system (PNS) is involved, yet there is little direct evidence.
Method
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.
Results
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.
Conclusions
Autonomic nervous system (ANS) dysfunction is found in many individuals with Cornelia de Lange syndrome, and could be related to premature aging.
Figure 1
Figure 2
This is a list of supplementary files associated with this preprint. Click to download.
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