Objective: Children with 22q11.2 deletion syndrome (22qDS) often require surgical intervention to treat velopharyngeal dysfunction (VPD). Although some studies have documented improved velopharyngeal (VP) closure under increased speaking effort, currently no studies have examined the effect of similar behavioral speech modifications on VP closure in children with 22qDS. The purpose of this pilot study was to explore the effect of loudness on VP closure during speech in children with 22qDS and persisting VPD.
Patients And Methods: Four children with 22qDS, posterior pharyngeal flap, and persisting mild VPD underwent pressure-flow testing while repeating words at habitual and increased loudness levels. Using a single-subject A-B design, descriptive statistics and graphical measures were used to examine differences in VP orifice area (VPA) and timing of closure in the habitual versus loud condition.
Results: Results were mixed. Median VPA decreased during some stimuli for 3 participants, but increased for 1 subject when speaking louder. Median duration of nasal airflow decreased for 3 participants in the loud condition.
Conclusion: This study presents preliminary aerodynamic data regarding the plasticity of VP physiology in the 22qDS group. Further research is needed to determine how loudness impacts VP function in children with 22qDS.
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http://dx.doi.org/10.1159/000438670 | DOI Listing |
Cleft Palate Craniofac J
September 2024
Department of Plastic and Reconstructive Surgery, Nationwide Children's Hospital, Columbus, OH, USA.
Background: The National Surgical Quality Improvement Program (NSQIP) Pediatric database has been used to identify factors related to adverse surgical outcomes in pediatric and craniofacial surgical procedures. Focusing on a historically "higher-risk" population, our aim was to assess the impact of demographics, comorbidities, and 22q11.2 deletion syndrome (22QDS) diagnosis on 30-day postoperative complications in patients undergoing primary palatoplasty.
View Article and Find Full Text PDFJ Clin Immunol
April 2024
Department of Pathobiology, School of Veterinary Medicine, University of Pennsylvania, 380 South University Avenue, 412 Hill, Philadelphia, PA, 19104-4539, USA.
We present a case study of a young male with a history of 22q11.2 deletion syndrome (22qDS), diagnosed with systemic capillary leak syndrome (SCLS) who presented with acute onset of diffuse anasarca and sub-comatose obtundation. We hypothesized that his co-presentation of neurological sequelae might be due to blood-brain barrier (BBB) susceptibility conferred by the 22q11.
View Article and Find Full Text PDFLaryngoscope
June 2024
Department of Otolaryngology-Head & Neck Surgery, Medical University of South Carolina, Charleston, South Carolina, U.S.A.
Objective: To evaluate the utility of preoperative imaging before velopharyngeal dysfunction (VPD) surgery in children with 22q11 Deletion Syndrome (22qDS) in evaluating internal carotid artery (ICA) medialization.
Data Sources: PubMed, Scopus, and CINAHL.
Review Methods: Following PRISMA guidelines, a systematic review was performed.
J Clin Exp Neuropsychol
August 2023
Gillberg Neuropsychiatry Centre, Institute of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
Introduction: 22q11.2 deletion syndrome (22qDS) has been associated with varying levels of social impairments, and with atypical visual scanning of faces. The present study explored whether self-reported sensitivity to eye contact might be related to these phenomena.
View Article and Find Full Text PDFJ Neurodev Disord
April 2023
Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, USA.
Background: Neurodevelopmental disorders (NDDs), such as attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD), are examples of complex and partially overlapping phenotypes that often lack definitive corroborating genetic information. ADHD and ASD have complex genetic associations implicated by rare recurrent copy number variations (CNVs). Both of these NDDs have been shown to share similar biological etiologies as well as genetic pleiotropy.
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