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.

Examining a New Method to Studying Velopharyngeal Structures in a Child With 22q11.2 Deletion Syndrome

2017 ◽  
Vol 60 (4) ◽  
pp. 892-896 ◽  
Author(s):  
Lakshmi Kollara ◽  
Graham Schenck ◽  
Michael Jaskolka ◽  
Jamie L. Perry
Keyword(s):  
Single Case ◽  
Effective Means ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Imaging Protocol ◽  
Scanning Protocol ◽  
Mri Protocol ◽  
Child Friendly ◽  
Magnetic Resonance Imaging Mri

Purpose To date, no studies have imaged the velopharynx in children with 22q11.2 deletion syndrome (22q11.2 DS) without the use of sedation. Dysmorphology in velopharyngeal structures has been shown to have significant negative implications on speech among these individuals. This single case study was designed to assess the feasibility of a child-friendly magnetic resonance imaging (MRI) scanning protocol in this clinically challenging population and to determine the utility of this MRI protocol for future work in this area. Method One 6-year-old White girl diagnosed with 22q11.2 DS was imaged using a child-friendly, nonsedated MRI protocol. Quantitative and qualitative measures of the velopharyngeal area and associated structures were evaluated, and comparisons were made to age-matched control subjects with normal velopharyngeal anatomy. Results MRI data were successfully obtained using the child-friendly scanning protocol in the subject in the present study. Quantitative and qualitative differences of the levator muscle and associated velopharyngeal structures were noted. Using these MRI and structural analyses methods, insights related to muscle morphology can be obtained and considered as part of the research and clinical examination of children with 22q11.2 DS. Conclusion The imaging protocol described in this study presents an effective means to counteract difficulties in imaging young children.

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.

scholarly journals Brain and behaviour in children with 22q11.2 deletion syndrome: a volumetric and voxel-based morphometry MRI study

Brain ◽  
2006 ◽  
Vol 129 (5) ◽  
pp. 1218-1228 ◽  
Author(s):  
Linda E. Campbell ◽  
Eileen Daly ◽  
Fiona Toal ◽  
Angela Stevens ◽  
Rayna Azuma ◽  
...  
Keyword(s):  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
Voxel Based Morphometry ◽  
22Q11.2 Deletion ◽  
Mri Study

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 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.

Schizotypal traits in adolescents with 22q11.2 deletion syndrome: validity, reliability and risk for psychosis

2015 ◽  
Vol 46 (5) ◽  
pp. 1005-1013 ◽  
Author(s):  
E. Fonseca-Pedrero ◽  
M. Debbané ◽  
M. Schneider ◽  
D. Badoud ◽  
S. Eliez
Keyword(s):  
High Risk ◽  
Internal Consistency ◽  
Rating Scale ◽  
Phenotypic Expression ◽  
22Q11.2 Deletion Syndrome ◽  
Self Report ◽  
Deletion Syndrome ◽  
Psychotic Symptoms ◽  
Control Group ◽  
22Q11.2 Deletion

BackgroundVery little is known about the phenotypic expression of schizotypal traits in individuals with 22q11.2 deletion syndrome (22q11DS). The main purpose was to analyse the factorial structure, internal consistency and temporal stability of schizotypal traits, as well as their associations with prodromal states and clinical psychotic symptoms in adolescents with 22q11DS.MethodThe sample comprised 61 adolescents with 22q11DS (mean = 14.95 years, s.d. = 2.13; n = 24 at follow-up). An age-matched comparison group (n = 61, mean = 15.44 years, s.d. = 1.76) was also included. The Schizotypal Personality Questionnaire (SPQ), the Structured Interview for Prodromal Syndromes, the Positive and Negative Syndrome Scale, and the Brief Psychiatric Rating Scale were used.ResultsAdolescents with 22q11DS scored higher than the control group on the interpersonal dimension and suspiciousness subscale of the SPQ. The analysis of the internal structure of the SPQ in the sample of 22q11DS participants yielded a three-component solution (cognitive–perceptual, interpersonal, and disorganized). In addition, internal consistency coefficients ranged between 0.63 and 0.91. The schizotypal traits were highly stable across a 3.6-year interval, and ranged from 0.50 to 0.63. Self-reported schizotypal traits correlated with interview-based ratings of prodromal states and psychotic symptoms.ConclusionsThese results indicate that the SPQ may be a valid tool to assess schizotypal traits in adolescents with 22q11DS. The identification of a reliable self-report instrument for use in individuals with learning disabilities and at genetic high risk for psychosis could be useful in clinical and research settings. Assessment of schizotypal traits may be used as a distal risk marker and in a close-in strategy in high-risk genetic samples to enhance the possibility of early detection of psychosis.

scholarly journals Regional cortical volumes and congenital heart disease: a MRI study in 22q11.2 deletion syndrome

2010 ◽  
Vol 2 (4) ◽  
pp. 224-234 ◽  
Author(s):  
Marie Schaer ◽  
Bronwyn Glaser ◽  
Marie-Christine Ottet ◽  
Maude Schneider ◽  
Meritxell Bach Cuadra ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Mri Study

Surgical Management of Patients With 22q11.2 Deletion Syndrome

2019 ◽  
Vol 4 (5) ◽  
pp. 857-869
Author(s):  
Oksana A. Jackson ◽  
Alison E. Kaye
Keyword(s):  
Surgical Management ◽  
Preoperative Evaluation ◽  
Preoperative Assessment ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Surgical Decision ◽  
Obstructive Sleep ◽  
Spine Abnormalities ◽  
Speech Assessment

Purpose The purpose of this tutorial was to describe the surgical management of palate-related abnormalities associated with 22q11.2 deletion syndrome. Craniofacial differences in 22q11.2 deletion syndrome may include overt or occult clefting of the palate and/or lip along with oropharyngeal variances that may lead to velopharyngeal dysfunction. This chapter will describe these circumstances, including incidence, diagnosis, and indications for surgical intervention. Speech assessment and imaging of the velopharyngeal system will be discussed as it relates to preoperative evaluation and surgical decision making. Important for patients with 22q11.2 deletion syndrome is appropriate preoperative screening to assess for internal carotid artery positioning, cervical spine abnormalities, and obstructive sleep apnea. Timing of surgery as well as different techniques, common complications, and outcomes will also be discussed. Conclusion Management of velopharyngeal dysfunction in patients with 22q11.2 deletion syndrome is challenging and requires thoughtful preoperative assessment and planning as well as a careful surgical technique.

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