Muscle Histology in Children with 22q11.2 Deletion Syndrome
Author Information
Author(s): Widdershoven Josine C. C., Spruijt Nicole E., Spliet Wim G. M., Breugem Corstiaan C., Kon Moshe, Mink van der Molen Aebele B.
Primary Institution: Maastricht University Medical Center, Maastricht, The Netherlands; University Medical Center Utrecht, Utrecht, The Netherlands; Department of Pathology, University Medical Center Utrecht, Utrecht, The Netherlands
Hypothesis
Is there a myogenic component to the etiology of velopharyngeal insufficiency in children with 22q11.2 deletion syndrome?
Conclusion
The study found no histological differences in the pharyngeal constrictor muscle between children with and without 22q11.2 deletion syndrome.
Supporting Evidence
- Muscle specimens were available for 16 children, eight with 22q11DS and eight without.
- No structural differences were seen between histological specimens from children with and without 22q11DS.
- Increased perimysial and endomysial space was seen equally in both groups.
- Qualitative analysis revealed no morphologic differences between PCM muscles in children with and without 22q11DS.
Takeaway
The researchers looked at muscle samples from kids with a specific syndrome and found that their muscles looked similar to those without the syndrome, which means the muscle problems might not be the reason for their speech issues.
Methodology
Muscle specimens were taken from children undergoing velopharyngoplasty, and histological evaluations were performed to compare muscle fiber characteristics.
Limitations
The study did not include a control group of PCM specimens from children without velopharyngeal insufficiency.
Participant Demographics
16 children, 8 with 22q11.2 deletion syndrome and 8 without, ages around 6.5 to 7 years.
Digital Object Identifier (DOI)
Want to read the original?
Access the complete publication on the publisher's website