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Background: Phelan-McDermid syndrome (PMS), also known as 22q13.3 deletion syndrome, is a rare neurodevelopmental syndrome resulting from a deletion of the distal long arm of chromosome 22.
Case presentation: We report a case of a 21 months old Chinese girl presenting with global developmental delay, absence of speech, unable to understand a few words or walk independently, insomnia, and autism-like behaviors. Second-generation sequencing and copy number variation analysis showed a heterozygous loss of SHANK3 gene in the 22q13 region, consistent with a diagnosis of PMS. After treatment with recombinant human growth hormone (rhGH), this patient had an improvement in motor skills and social behaviors. No side effects from rhGH therapy were reported.
Conclusions: This is the first report of using rhGH to treat a Chinese girl diagnosed with PMS. We speculate rhGH could be a reasonable alternative choice for PMS treatment with similar clinical outcomes in comparison to insulin-like growth factor-1(IGF-1). However, further clinical trials are needed to confirm this hypothesis.
Keywords
Phelan-McDermid syndrome, 22q13.3, treatment, human growth hormone
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CURRENT STATUS: Published
View the published article at Italian Journal of Pediatrics.
Version 1
Posted 25 Nov, 2020
No community comments so far
Editorial decision: Major revision
On 25 Dec, 2020
Review #2 received
Received 22 Dec, 2020
Review #1 received
Received 18 Dec, 2020
Reviewer #3 agreed
On 16 Dec, 2020
Reviewer #2 agreed
On 14 Dec, 2020
Reviewers invited
Invitations sent on 04 Dec, 2020
Reviewer #1 agreed
On 04 Dec, 2020
Editor assigned
On 22 Nov, 2020
Editor invited
On 22 Nov, 2020
Submission checks complete
On 21 Nov, 2020
First submitted
On 15 Nov, 2020
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Subject Areas
Pediatrics
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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
Case report
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.
Version 1
Posted 25 Nov, 2020
No community comments so far
Editorial decision: Major revision
On 25 Dec, 2020
Review #2 received
Received 22 Dec, 2020
Review #1 received
Received 18 Dec, 2020
Reviewer #3 agreed
On 16 Dec, 2020
Reviewer #2 agreed
On 14 Dec, 2020
Reviewers invited
Invitations sent on 04 Dec, 2020
Reviewer #1 agreed
On 04 Dec, 2020
Editor assigned
On 22 Nov, 2020
Editor invited
On 22 Nov, 2020
Submission checks complete
On 21 Nov, 2020
First submitted
On 15 Nov, 2020
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
Subject Areas
Pediatrics
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: Phelan-McDermid syndrome (PMS), also known as 22q13.3 deletion syndrome, is a rare neurodevelopmental syndrome resulting from a deletion of the distal long arm of chromosome 22.
Case presentation: We report a case of a 21 months old Chinese girl presenting with global developmental delay, absence of speech, unable to understand a few words or walk independently, insomnia, and autism-like behaviors. Second-generation sequencing and copy number variation analysis showed a heterozygous loss of SHANK3 gene in the 22q13 region, consistent with a diagnosis of PMS. After treatment with recombinant human growth hormone (rhGH), this patient had an improvement in motor skills and social behaviors. No side effects from rhGH therapy were reported.
Conclusions: This is the first report of using rhGH to treat a Chinese girl diagnosed with PMS. We speculate rhGH could be a reasonable alternative choice for PMS treatment with similar clinical outcomes in comparison to insulin-like growth factor-1(IGF-1). However, further clinical trials are needed to confirm this hypothesis.
Figure 1
Figure 2
Figure 3
The full text of this article is available to read as a PDF.
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