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Agnieszka Bogusz-Wójcik
Children's Memorial Health Institute
Corresponding Author
ORCiD: https://orcid.org/0000-0003-2235-4259
License:
This work is licensed under a CC BY 4.0 License. Read Full License
Background: Shwachman-Diamond syndrome (SDS) is a rare genetic, multi-systemic diseasecharacterised by exocrine pancreatic insufficiency, immune deficiency, bone marrow failure and skeletal abnormalities.Most patients present with failure in somatic development and short stature, but systematic data concerning those features are limited. The aim of the study was to assess the prevalence of failure in somatic development in the children with SDS.
Methods: An analysis of anthropometric measurements of 21 patients (14 girls and 7 boys),eaged 2 to 17 years (mean age 6.3 years) with SDS diagnosed in The Children’s Memorial Health Institute in Warsaw, Polandwas performed.The patients were measured using a Holtain Limited stadiometer, an electronic scale, a Harpenden anthropometer, a metric tape and a spreading caliper. The assessed anthropometric parameters were expressed as standard deviation scores in relation to the reference values in Poland, suitable for sex as well as calendar and growth age.
Results: A total of66measurements was collected and analysed with a median number of 3 observations per patient.The group of boyspresented with a significantly lower height (-3.0 SD, p<0.0001) and BMI (-1.4 SD, p<0.00001), and in the relation to the growth age a lower weight ( -1.0 SD, p<0.001) as well as a smaller chest width (-0.9 SD, p<0.05), hip width (-0,5 SD, p<0,05) and lower limb length (-0,5 SD, p<0,05). The group of girls also showed significantly lower height (-2.6 SD, p<0.00001) and BMI (-0.8 SD, p<0.00001), and in relation to the growth age, lower weight (-0.5 SD, p<0.001) as well as decreased width of the chest (-1.7 SD, p<0.0001) and shoulder (‑1.0 SD, p<0.001) were observed. Boys and girls were alsocharacterised by significantly decreased circumference and width of head, additionally, girls had also smaller head length.
Conclusions: Patients with SDS have abnormal somatic development. Both boys and girls are characterised by short stature, decreased weight, BMI, leg length, chest width as well as circumference and width of head. Anthropometric measurements provide important data on the process of growth and body proportions in children with SDS.
Keywords
somatic development, Shwachman-Diamond Syndrome, anthropometric parameters, short stature
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CURRENT STATUS: Published
View the published article at Italian Journal of Pediatrics.
No community comments so far
Editorial decision: Accept
On 03 Oct, 2020
Review #2 received
Received 01 Oct, 2020
Reviewer #2 agreed
On 22 Sep, 2020
Reviewer #1 agreed
On 16 Sep, 2020
Review #1 received
Received 16 Sep, 2020
Reviewers invited
Invitations sent on 12 Sep, 2020
Editor assigned
On 02 Sep, 2020
Submission checks complete
On 01 Sep, 2020
Editor invited
On 01 Sep, 2020
Version 1
Posted 22 Jun, 2020
No comments provided
Editorial decision: Major revision
On 01 Aug, 2020
Review #1 received
Received 29 Jul, 2020
Review #2 received
Received 24 Jul, 2020
Reviewer #2 agreed
On 22 Jul, 2020
Reviewers invited
Invitations sent on 12 Jul, 2020
Reviewer #1 agreed
On 12 Jul, 2020
First submitted
On 16 Jun, 2020
Editor assigned
On 16 Jun, 2020
Submission checks complete
On 15 Jun, 2020
Editor invited
On 15 Jun, 2020
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
Subject Areas
Endocrinology & Metabolism
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A new preprint design is coming!
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See the published version of this preprint at Italian Journal of Pediatrics.
This is a preprint, 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
Agnieszka Bogusz-Wójcik
Children's Memorial Health Institute
Corresponding Author
ORCiD: https://orcid.org/0000-0003-2235-4259
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: Published
View the published article at Italian Journal of Pediatrics.
No community comments so far
Editorial decision: Accept
On 03 Oct, 2020
Review #2 received
Received 01 Oct, 2020
Reviewer #2 agreed
On 22 Sep, 2020
Reviewer #1 agreed
On 16 Sep, 2020
Review #1 received
Received 16 Sep, 2020
Reviewers invited
Invitations sent on 12 Sep, 2020
Editor assigned
On 02 Sep, 2020
Submission checks complete
On 01 Sep, 2020
Editor invited
On 01 Sep, 2020
Version 1
Posted 22 Jun, 2020
No comments provided
Editorial decision: Major revision
On 01 Aug, 2020
Review #1 received
Received 29 Jul, 2020
Review #2 received
Received 24 Jul, 2020
Reviewer #2 agreed
On 22 Jul, 2020
Reviewers invited
Invitations sent on 12 Jul, 2020
Reviewer #1 agreed
On 12 Jul, 2020
First submitted
On 16 Jun, 2020
Editor assigned
On 16 Jun, 2020
Submission checks complete
On 15 Jun, 2020
Editor invited
On 15 Jun, 2020
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
Subject Areas
Endocrinology & Metabolism
License:
This work is licensed under a CC BY 4.0 License. Read Full License
View the published article at Italian Journal of Pediatrics.
Background: Shwachman-Diamond syndrome (SDS) is a rare genetic, multi-systemic diseasecharacterised by exocrine pancreatic insufficiency, immune deficiency, bone marrow failure and skeletal abnormalities.Most patients present with failure in somatic development and short stature, but systematic data concerning those features are limited. The aim of the study was to assess the prevalence of failure in somatic development in the children with SDS.
Methods: An analysis of anthropometric measurements of 21 patients (14 girls and 7 boys),eaged 2 to 17 years (mean age 6.3 years) with SDS diagnosed in The Children’s Memorial Health Institute in Warsaw, Polandwas performed.The patients were measured using a Holtain Limited stadiometer, an electronic scale, a Harpenden anthropometer, a metric tape and a spreading caliper. The assessed anthropometric parameters were expressed as standard deviation scores in relation to the reference values in Poland, suitable for sex as well as calendar and growth age.
Results: A total of66measurements was collected and analysed with a median number of 3 observations per patient.The group of boyspresented with a significantly lower height (-3.0 SD, p<0.0001) and BMI (-1.4 SD, p<0.00001), and in the relation to the growth age a lower weight ( -1.0 SD, p<0.001) as well as a smaller chest width (-0.9 SD, p<0.05), hip width (-0,5 SD, p<0,05) and lower limb length (-0,5 SD, p<0,05). The group of girls also showed significantly lower height (-2.6 SD, p<0.00001) and BMI (-0.8 SD, p<0.00001), and in relation to the growth age, lower weight (-0.5 SD, p<0.001) as well as decreased width of the chest (-1.7 SD, p<0.0001) and shoulder (‑1.0 SD, p<0.001) were observed. Boys and girls were alsocharacterised by significantly decreased circumference and width of head, additionally, girls had also smaller head length.
Conclusions: Patients with SDS have abnormal somatic development. Both boys and girls are characterised by short stature, decreased weight, BMI, leg length, chest width as well as circumference and width of head. Anthropometric measurements provide important data on the process of growth and body proportions in children with SDS.
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