scholarly journals Velopharyngeal Anatomy in 22q11.2 Deletion Syndrome: A Three-Dimensional Cephalometric Analysis

2006 ◽  
Vol 43 (4) ◽  
pp. 446-456 ◽  
Author(s):  
Rachel A. Ruotolo ◽  
Nestor A. Veitia ◽  
Aaron Corbin ◽  
Joseph McDonough ◽  
Cynthia B. Solot ◽  
...  
Keyword(s):  
Magnetic Resonance ◽  
Tertiary Care ◽  
Three Dimensional ◽  
22Q11.2 Deletion Syndrome ◽  
Magnetic Resonance Images ◽  
Deletion Syndrome ◽  
Control Group ◽  
Study Group ◽  
Slice Thickness ◽  
22Q11.2 Deletion

Objective 22q11.2 deletion syndrome is the most common genetic cause of velopharyngeal dysfunction (VPD). Magnetic resonance imaging (MRI) is a promising method for noninvasive, three-dimensional (3D) assessment of velopharyngeal (VP) anatomy. The purpose of this study was to assess VP structure in patients with 22q11.2 deletion syndrome by using 3D MRI analysis. Design This was a retrospective analysis of magnetic resonance images obtained in patients with VPD associated with a 22q11.2 deletion compared with a normal control group. Setting This study was conducted at The Children's Hospital of Philadelphia, a pediatric tertiary care center. Patients, Participants The study group consisted of 5 children between the ages of 2.9 and 7.9 years, with 22q11.2 deletion syndrome confirmed by fluorescence in situ hybridization analysis. All had VPD confirmed by nasendoscopy or videofluoroscopy. The control population consisted of 123 unaffected patients who underwent MRI for reasons other than VP assessment. Interventions Axial and sagittal T1- and T2-weighted magnetic resonance images with 3-mm slice thickness were obtained from the orbit to the larynx in all patients by using a 1.5T Siemens Visions system. Outcome Measures Linear, angular, and volumetric measurements of VP structures were obtained from the magnetic resonance images with VIDA image-processing software. Results The study group demonstrated greater anterior and posterior cranial base and atlanto-dental angles. They also demonstrated greater pharyngeal cavity volume and width and lesser tonsillar and adenoid volumes. Conclusion Patients with a 22q11.2 deletion demonstrate significant alterations in VP anatomy that may contribute to VPD.

scholarly journals Differences in the Tensor Veli Palatini Muscle and Hearing Status in Children With and Without 22q11.2 Deletion Syndrome

2019 ◽  
Vol 57 (3) ◽  
pp. 302-309
Author(s):  
Jamie L. Perry ◽  
Katelyn J. Kotlarek ◽  
Kelly Spoloric ◽  
Adriane Baylis ◽  
Lakshmi Kollara ◽  
...  
Keyword(s):  
Three Dimensional ◽  
Muscle Length ◽  
22Q11.2 Deletion Syndrome ◽  
Image Resolution ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
3 Dimensional ◽  
High Image Resolution ◽  
Tensor Veli Palatini Muscle ◽  
Magnetic Resonance Imaging Mri

Purpose: To investigate the dimensions of the tensor veli palatini (TVP) muscle using high image resolution 3-dimensional magnetic resonance imaging (MRI) of the soft palate among children with normal velopharyngeal and craniofacial anatomy and to compare values to individuals with a diagnosis of 22q11.2 deletion syndrome (22q11DS). We also sought to determine whether there is a relationship between hypoplasia of the TVP and severity of middle ear dysfunction and hearing loss. Methods: Three-dimensional MRI were used to collect and analyze data obtained across 53 children between 4 and 12 years of age, including 40 children with normal velopharyngeal and craniofacial anatomy and 13 children with a diagnosis of 22q11.2 DS. Tensor veli palatini muscle length, thickness, and volume as well as bihamular distance were compared among participant groups. Results: A Welch’s t-test revealed that the TVP in participants with 22q11DS is significantly shorter ( P = .005, 17.3 vs 19.0 mm), thinner ( P < .001, 1.1 vs 1.8 mm), and less voluminous ( P < .001, 457.5 vs 667.3 mm3) than participants without 22q11DS. Participants with 22q11DS also had a greater ( P = .006, 27.7 vs 24.7 mm) bihamular distance than participants without 22q11DS. There was an inverse relationship between TVP abnormalities noted above and the severity of audiologic and otologic histories. Conclusion: The TVP muscle is substantially reduced in volume, length, and thickness in children with 22q11DS. These findings serve as preliminary support for the association of patient hearing and otologic severity and TVP dysmorphology.

Velopharyngeal Structural and Muscle Variations in Children With 22q11.2 Deletion Syndrome: An Unsedated MRI Study

2019 ◽  
Vol 56 (9) ◽  
pp. 1139-1148 ◽  
Author(s):  
Lakshmi Kollara ◽  
Adriane L. Baylis ◽  
Richard E. Kirschner ◽  
D. Gregory Bates ◽  
Mark Smith ◽  
...  
Keyword(s):  
22Q11.2 Deletion Syndrome ◽  
Analysis Of Covariance ◽  
Deletion Syndrome ◽  
Control Group ◽  
Limited Information ◽  
22Q11.2 Deletion ◽  
Mri Protocol ◽  
Magnetic Resonance Imaging Mri ◽  
And Gender ◽  
Mri Study

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 15 age- and gender-matched controls with normal velopharyngeal anatomy (ages 4-12) successfully completed the MRI protocol. Eighteen velopharyngeal and 2 related craniofacial measures were examined. Analysis of covariance was used to compare differences between the experimental and the control groups. Results: The 22q11.2DS group demonstrated a significantly thinner velum ( P < .0005) and a larger pharyngeal depth ( P = .007) compared to the matched control group. Findings in the current study also demonstrated that the levator veli palatini muscle is significantly shorter ( P = .037) and thinner ( P = .025) in the 22q11.2DS cohort, with a significantly shorter origin-to-origin distance ( P < .0005) and a greater angle of origin ( P = .001) compared to healthy peers. Conclusion: Children with 22q11.2DS demonstrated multiple variations that may contribute to velopharyngeal dysfunction by altering the anatomic characteristics of the velopharyngeal port, the levator muscle, and associated structures. This investigation represents the first and largest attempt to characterize velopharyngeal anatomy in children with 22q11.2DS using a nonsedated MRI protocol.

scholarly journals Velopharyngeal Anatomy in 22q11.2 Deletion Syndrome: A Three-Dimensional Cephalometric Analysis

2006 ◽  
Vol 43 (4) ◽  
pp. 446 ◽  
Author(s):  
Rachel A. Ruotolo ◽  
Nestor A. Veitia ◽  
Aaron Corbin ◽  
Joseph McDonough ◽  
Cynthia B. Solot ◽  
...  
Keyword(s):  
Three Dimensional ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
Cephalometric Analysis ◽  
22Q11.2 Deletion

Impact of Interdisciplinary Team Care for Children With 22q11.2 Deletion Syndrome

2020 ◽  
Vol 57 (12) ◽  
pp. 1362-1369
Author(s):  
Scott E. Hickey ◽  
Brian Kellogg ◽  
Meghan O’Brien ◽  
Courtney Hall ◽  
Richard E. Kirschner ◽  
...  
Keyword(s):  
Guideline Adherence ◽  
Multidisciplinary Team ◽  
Tertiary Care ◽  
22Q11.2 Deletion Syndrome ◽  
T Test ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Improvement Project ◽  
Team Care ◽  
Disease Specific

Objective: To evaluate disease-specific guideline adherence among children with 22q11.2 deletion syndrome receiving multidisciplinary team care through a 22q specialty clinic compared to children not receiving team care. Design: Retrospective chart review; quality improvement project. Setting: Tertiary care pediatric hospital. Patients: One hundred eighty-nine patients with 22q11.2 deletion syndrome were categorized into those receiving team care and those not receiving team care. Guideline adherence was compared between the 2 groups. Main Outcome Measure(s): Percent adherence across 8 disease-specific guidelines. Results: A Welch t test revealed mean adherence among patients receiving team care was significantly higher (83% vs 42%, P < .001) compared those not receiving team care. Among team patients with a single 22q Center visit, a paired samples t test showed that mean adherence increased from 63% before the clinic encounter to 86% six months after the encounter ( P < .001). Some guidelines were more likely to be associated with provider nonadherence, whereas others were more likely to be associated with patient nonadherence. Conclusions: Multidisciplinary team care is associated with significantly higher guideline adherence in children with 22q11DS. Additional research is needed to investigate the effect of team care on long-term health outcomes in children with 22q11DS.

Velopharyngeal Anatomy in 22q11.2 Deletion Syndrome: A Three-Dimensional Cephalometric Analysis

2005 ◽  
Author(s):  
Rachel Ruotolo ◽  
Don LaRossa ◽  
Raanan Arens ◽  
Richard Kirschner ◽  
Nestor Veitia ◽  
...  
Keyword(s):  
Three Dimensional ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
Cephalometric Analysis ◽  
22Q11.2 Deletion

scholarly journals Discrepancies in Parent and Teacher Ratings of Social-Behavioral Functioning of Children With Chromosome 22q11.2 Deletion Syndrome: Implications for Assessment

2013 ◽  
Vol 118 (5) ◽  
pp. 339-352 ◽  
Author(s):  
Vandana Shashi ◽  
Emily Wray ◽  
Kelly Schoch ◽  
Kathleen Curtiss ◽  
Stephen R. Hooper
Keyword(s):  
22Q11.2 Deletion Syndrome ◽  
Teacher Ratings ◽  
Emotional Behavior ◽  
Multiple Informants ◽  
Behavioral Functioning ◽  
Deletion Syndrome ◽  
Control Group ◽  
22Q11.2 Deletion ◽  
The Social ◽  
Parent And Teacher Ratings

Abstract Children with 22q11.2 deletion syndrome exhibit high rates of social-behavioral problems, particularly in the internalizing domain, indicating an area in need of intervention. The current investigation was designed to obtain information regarding parent and teacher ratings of the social-emotional behavior of children with 22q11DS. Using the Child Behavior Checklist (CBCL), the sample included 67 children with 22q11DS and 59 control subjects. Results indicated significant differences in social-behavioral functioning of children with 22q11DS, as compared to a control group, based on rater type. Specifically, parents reported more difficulties with internalizing problems, withdrawal, and social problems in children with 22q11DS. In contrast, teachers perceived few differences between children with 22q11DS and unaffected children. Correlational analyses indicated weak concordance between parent and teacher reports, with no significant correlations on any of three summary scales. The findings support the use of multiple methods of assessment and multiple informants when collecting information regarding the social-behavioral functioning of children with 22q11DS, and that interpretations based on only one informant/setting need to be made cautiously.

scholarly journals Psychiatric disorders and autism in young children with 22q11.2 deletion syndrome compared to children with idiopathic autism

2019 ◽  
Vol 55 ◽  
pp. 116-121 ◽  
Author(s):  
Yaffa Serur ◽  
Dafin Sofrin Frumber ◽  
Keren Daon ◽  
Dolly Sobal-Havia ◽  
Ronnie Weinberger ◽  
...  
Keyword(s):  
Young Children ◽  
Psychiatric Disorders ◽  
Gold Standard ◽  
22Q11.2 Deletion Syndrome ◽  
Autism Spectrum ◽  
Diagnostic Interview ◽  
Deletion Syndrome ◽  
Control Group ◽  
Child Psychiatrist ◽  
22Q11.2 Deletion

AbstractThe 22q11.2 deletion syndrome (22q11DS) is a neurogenetic condition characterized by high rates of psychiatric disorders. To our knowledge, this is the first study to assess psychiatric disorders in young children with 22q11DS using a structured psychiatric diagnostic interview, and one of few studies to use the complete gold standard diagnostic evaluation to examine the prevalence of autism spectrum disorder (ASD) in young children with 22q11DS and compare it to a matched control group with iASD.We identified the psychiatric disorders and autistic phenotype of young children with 22q11DS (age 3–8 years) and compared them with those of age and sex-matched children with idiopathic autism (iASD). We used the gold standard psychiatric and ASD assessments including the Autism Diagnostic Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule (ADOS) and a clinical examination by a child psychiatrist.Eighty-four percent of the children with 22q11DS had at least one psychiatric disorder, including anxiety disorders and ADHD, and 16% met strict criteria for ASD. Children with 22q11DS and ASD symptoms had less severe overall ASD symptoms than those with iASD. Children with 22q11DS, regardless of ASD diagnosis, were characterized by repetitive restricted behaviors.Our results highlight the need to screen for psychiatric disorders in 22q11DS and treat them already in preschool years.

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