Speech-language disorders in 22q11. 2 deletion syndrome: best practices for diagnosis and management

CB Solot, D Sell, A Mayne, AL Baylis, C Persson… - American journal of …, 2019 - ASHA
Purpose Speech and language disorders are hallmark features of 22q11. 2 deletion
syndrome (22qDS). Learning disabilities, cognitive deficits, palate abnormalities …

Self-reported speech problems in adolescents and young adults with 22q11. 2 deletion syndrome: a cross-sectional cohort study

NE Spruijt, JAS Vorstman, M Kon… - Archives of plastic …, 2014 - thieme-connect.com
Background Speech problems are a common clinical feature of the 22q11. 2 deletion
syndrome. The objectives of this study were to inventory the speech history and current self …

Palatal evaluation and treatment in 22q11. 2 deletion syndrome

O Jackson, TB Crowley, R Sharkus… - American Journal of …, 2019 - Wiley Online Library
Palatal involvement occurs commonly in patients with 22q11. 2 Deletion Syndrome (22qDS),
and includes palatal clefting and velopharyngeal dysfunction in the absence of overt or …

Presence of 22q11 deletion in postadenoidectomy velopharyngeal insufficiency

JA Perkins, K Sie, S Gray - Archives of Otolaryngology–Head & …, 2000 - jamanetwork.com
Background Velopharyngeal insufficiency is an uncommon complication of adenoidectomy.
Persistent velopharyngeal insufficiency following adenoidectomy (VIA) may occur in …

Through-and-Through dissection of the soft palate for pharyngeal flap inset: A “good-fast-cheap” technique for any etiology of velopharyngeal incompetence

M Carr, M Skarlicki, S Palm… - The Cleft Palate …, 2022 - journals.sagepub.com
Objective: To determine the efficacy and resource utilization of through-and-through
dissection of the soft palate for pharyngeal flap inset for velopharyngeal incompetence (VPI) …

Otolaryngologic manifestations of the 22q11. 2 deletion syndrome

O Dyce, D McDonald-McGinn… - … –Head & Neck …, 2002 - jamanetwork.com
Background The 22q11. 2 chromosome deletion syndrome occurs at a frequency of 1 in
4000 live births. Fluorescent in situ hybridization is a reliable means of testing for this …

Velopharyngeal anatomy in 22q11. 2 deletion syndrome: a three-dimensional cephalometric analysis

RA Ruotolo, NA Veitia, A Corbin… - The Cleft palate …, 2006 - journals.sagepub.com
Objective 22q11. 2 deletion syndrome is the most common genetic cause of velopharyngeal
dysfunction (VPD). Magnetic resonance imaging (MRI) is a promising method for …

Head and neck manifestations of 22q11. 2 deletion syndromes

T Marom, Y Roth, A Goldfarb, U Cinamon - European Archives of Oto …, 2012 - Springer
The allelic loss of 22q11. 2 results in various developmental failures of pharyngeal pouch
derivatives (“22q11. 2 deletion syndromes”, 22q. 11DS), consequently affecting the anatomy …

22q11. 2 deletion detected by endoscopic observation of pharyngeal pulsations in a child with submucous cleft palate and persistent velopharyngeal insufficiency

A Ysunza, K Chaiyasate, MA Micale… - International Journal of …, 2014 - Elsevier
Abstract 22q11. 2 microdeletion syndrome (22q11. 2DS) is the most common syndrome
associated with cleft palate and velopharyngeal insufficiency (VPI). Over 180 clinical …

Possible mechanisms and gene involvement in speech problems in the 22q11. 2 deletion syndrome

JCC Widdershoven, FA Beemer, M Kon… - Journal of plastic …, 2008 - Elsevier
The 22q11. 2 deletion syndrome represents a contiguous gene syndrome with a highly
variable phenotype. To date, over 180 clinical features have been described. Studies have …