Abstract:Objective: The 22q11.2 deletion syndrome (22q11.2DS) is the most common genetic cause of velopharyngeal dysfunction; however, limited information exists regarding variations in velopharyngeal anatomy in this clinically challenging population. The purpose of this study was to examine velopharyngeal characteristics among young children with 22q11.2DS in comparison to a normative cohort using an innovative, nonsedated magnetic resonance imaging (MRI) scanning protocol. Methods: Fifteen children with 22q11.2DS and… Show more
“…We did not detect a significant difference in velar length, VP ratio, or the distance from the posterior nasal spine to posterior pharyngeal wall in children with 22q11DS compared to controls. Velar length was also not reported to be significantly different between groups by Ruotolo et al (2006) and Kollara et al (2019). Veerapandiyan et al (2011) reported a shorter velum in only 50% of their cohort.…”
Section: Discussionmentioning
confidence: 82%
“…The anterior boundary of the posterior cranial fossa also represents the posterior cranial base length, also called lateral cranial base length, which is noted radiographically as the distance from sella to basion. Numerous studies have reported more obtuse cranial base angles in individuals with 22q11DS (Arvystas and Shprintzen, 1984; Heliövaara and Hurmerinta, 2006; Ruotolo et al, 2006; Kollara et al, 2016; Filip et al, 2018). Additionally, cerebellum volume has been reported to be associated with posterior cranial fossa volume in both control groups, and individuals with Chiari malformation (Vurden et al, 2012), however this study did not control for age or gender effects.…”
Objective: The purpose of this study was to analyze the relationship between cranial base, cerebellar, craniofacial, and velopharyngeal (VP) variables in individuals with 22q11.2 deletion syndrome (22q11DS). Methods: Thirteen typically developing healthy children and 13 age- and sex-matched individuals with 22q11DS completed a magnetic resonance imaging scan, which was used to examine craniofacial and VP variables. Results: A statistically significant difference was noted in cerebellum volumes, F 1,24 = 7.947, P = .010, posterior nasal spine to posterior pharyngeal wall (PNS-PPW), F 1,24 = 4.878, P = .037, nasion-sella-basion (NSB) cranial base angles, F 1,24 = 7.253, P = .013, and sella-basion-opisthion (SBO) cranial base angles, F 1,24 = 9.134, P = .006, between children with 22q11DS and controls. The cerebellum volume was significantly reduced and cranial base angles were significantly more obtuse in individuals with 22q11DS. In the 22q11DS group, cerebellum volume was significantly correlated with sella-basion (SB) length, osseous pharyngeal depth, the PNS-PPW length, and velar length ( P < .05). The PNS-PPW length was correlated with SB length, basion-opisthion length, NSB angle, SBO angle, and the VP ratio ( P < .05). Conclusion: This study supports previous findings on anatomical differences among individuals with 22q11DS and has expanded our current understanding of the potential relationship between craniofacial and VP variables in at least a subset of children with 22q11DS. Results provide preliminary insights into the potential relationship between a decrease in cerebellar volume, obtuse cranial base angles, and unfavorable VP dimensions.
“…We did not detect a significant difference in velar length, VP ratio, or the distance from the posterior nasal spine to posterior pharyngeal wall in children with 22q11DS compared to controls. Velar length was also not reported to be significantly different between groups by Ruotolo et al (2006) and Kollara et al (2019). Veerapandiyan et al (2011) reported a shorter velum in only 50% of their cohort.…”
Section: Discussionmentioning
confidence: 82%
“…The anterior boundary of the posterior cranial fossa also represents the posterior cranial base length, also called lateral cranial base length, which is noted radiographically as the distance from sella to basion. Numerous studies have reported more obtuse cranial base angles in individuals with 22q11DS (Arvystas and Shprintzen, 1984; Heliövaara and Hurmerinta, 2006; Ruotolo et al, 2006; Kollara et al, 2016; Filip et al, 2018). Additionally, cerebellum volume has been reported to be associated with posterior cranial fossa volume in both control groups, and individuals with Chiari malformation (Vurden et al, 2012), however this study did not control for age or gender effects.…”
Objective: The purpose of this study was to analyze the relationship between cranial base, cerebellar, craniofacial, and velopharyngeal (VP) variables in individuals with 22q11.2 deletion syndrome (22q11DS). Methods: Thirteen typically developing healthy children and 13 age- and sex-matched individuals with 22q11DS completed a magnetic resonance imaging scan, which was used to examine craniofacial and VP variables. Results: A statistically significant difference was noted in cerebellum volumes, F 1,24 = 7.947, P = .010, posterior nasal spine to posterior pharyngeal wall (PNS-PPW), F 1,24 = 4.878, P = .037, nasion-sella-basion (NSB) cranial base angles, F 1,24 = 7.253, P = .013, and sella-basion-opisthion (SBO) cranial base angles, F 1,24 = 9.134, P = .006, between children with 22q11DS and controls. The cerebellum volume was significantly reduced and cranial base angles were significantly more obtuse in individuals with 22q11DS. In the 22q11DS group, cerebellum volume was significantly correlated with sella-basion (SB) length, osseous pharyngeal depth, the PNS-PPW length, and velar length ( P < .05). The PNS-PPW length was correlated with SB length, basion-opisthion length, NSB angle, SBO angle, and the VP ratio ( P < .05). Conclusion: This study supports previous findings on anatomical differences among individuals with 22q11DS and has expanded our current understanding of the potential relationship between craniofacial and VP variables in at least a subset of children with 22q11DS. Results provide preliminary insights into the potential relationship between a decrease in cerebellar volume, obtuse cranial base angles, and unfavorable VP dimensions.
“…Such visualisation provides important information that aids patient management decision-making. In addition, MRI is used to investigate the anatomical reasons why some patient groups are more predisposed to speech problems [13] , [14] , [15] , [16] . Fig.…”
Highlights
A method to segment the vocal tract and articulators in MR images was developed.
Median accuracy: Dice coefficient of 0.92; general Hausdorff distance of 5mm.
Developed to facilitate quantitative analysis of the vocal tract and articulators.
Intended for use in clinical and non-clinical studies of speech.
A novel clinically relevant segmentation accuracy metric was also developed.
“…A total of 60-75% of patients with 22q11.2DS have cardiac outflow tract defects, which often require life-saving surgery during the neonatal period 13 . Additionally, most individuals with this condition have speech, feeding and swallowing difficulties in infancy, due in part to BrM hypotonia 14 . Further, heterozygous mutations in rare, non-deleted individuals, phenocopy the symptoms of the deletion 15 .…”
The poles of the heart and branchiomeric muscles of the face and neck are formed from the cardiopharyngeal mesoderm (CPM) within the pharyngeal apparatus. The formation of the cardiac outflow tract and branchiomeric muscles are disrupted in patients with 22q11.2 deletion syndrome (22q11.2DS), due to haploinsufficiency of TBX1, encoding a T-box transcription factor. Here, using single cell RNA-sequencing, we identified a multilineage primed population (MLP) within the CPM, marked by the Tbx1 lineage, which has bipotent properties to form cardiac and skeletal muscle cells. The MLPs are localized within the nascent mesoderm of the caudal lateral pharyngeal apparatus and provide a continuous source of progenitors that undergo TBX1-dependent progression towards maturation. Tbx1 also regulates the balance between MLP maintenance and maturation while restricting ectopic non-mesodermal gene expression. We further show that TBX1 confers this balance by direct regulation of MLP enriched genes and downstream pathways, partly through altering chromatin accessibility. Our study thus uncovers a new cell population and reveals novel mechanisms by which Tbx1 directs the development of the pharyngeal apparatus, which is profoundly altered in 22q11.2DS.
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