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.
ArvystasMShprintzenRJ. Craniofacial morphology in the velo-cardio-facial syndrome. J Craniofac Genet Dev Biol. 1984;4(1);39–45.
2.
BundyELZajacDJ. Estimation of transpalatal nasalance during production of voiced stop consonants by noncleft speakers using an oral-nasal mask. Cleft Palate Craniofac J. 2006;43(6):691–701.
3.
ChegarBETatumSAMarrinanEShprintzenRJ. Upper airway asymmetry in velo cardio-facial syndrome. Int J Pediatr Otorhinolaryngol. 2006;70(8):1375–1381.
4.
Dalben GdaSRichieri-CostaATaveiraLA. Craniofacial morphology in patients with velocardiofacial syndrome. Cleft Palate Craniofac J. 2010;47(3):241–246.
5.
D-AntonioLLDavioMZollerKPunjabiAHardestyRA. Results of Furlow Z-plasty in patients with velocardiofacial syndrome. Plast Reconstr Surg. 2001;107(4):1077–1079.
6.
FilipCImpieriDAagenaesIBreugemCHogevoldHESaervoldTAuknerRLimaKTonsethKAbrahamsenTG. Adults with 22q11.2 deletion syndrome have a different velopharyngeal anatomy with predisposition to velopharyngeal insufficiency. J Plast Reconstr Aesthet Surg. 2018;71(4)524–536. doi: 10.1016/j.bjps.2017.09.006.
7.
Gildersleeve-neumannCEDalstonRM. Nasalance scores in noncleft individuals: why not zero?Cleft Palate Craniofac J. 2001:38(2);106–111.
8.
Golding-KushnerKJShprintzenRJ. Velo-Cardio-Facial Syndrome: Volume II Treatment of Communication Disorders. 1st ed. San Diego, CA: Plural; 2011.
9.
HallidayMKelleherJ. Question 1: is sedation necessary for MRI in an infant?Arch Dis Child. 2013;98(10):825–828.
10.
HeliovaaraAHurmerintaK. Craniofacial cephalometric morphology in children with CATCH 22 syndrome. Orthod Craniofac Res. 2006;9(4):186–192.
11.
InouyeJMPerryJLLinKYBlemkerSS. A computational model quantifies the effect of anatomical variability on velopharyngeal function. J Speech Lang Hear Res. 2015;58(4):119–133.
KollaraLPerryJL. Effects of gravity on the velopharyngeal structures in children using upright magnetic resonance imaging. Cleft Palate Craniofac J. 2014;51(6):669–676.
14.
KollaraLPerryJLHudsonS. Racial variations in velopharyngeal and craniometric morphology in children: an imaging study. J Speech Lang Hear Res. 2016;59(1):27–38.
15.
KollaraLSchenckGCJaskolkaMPerryJL. Examining a new method to studying velopharyngeal structures in a child with 22q11.2DS. J Speech Lang Hear Res. 2017;60(4):892–896.
16.
KuehnDP. MRI investigation of VCFS. Paper presented at: The American Cleft Palate Craniofacial Association Annual Meeting, 2003;, Greenville, SC.
17.
LoskenAWilliamsJKBursteinFDMalickDNRiskiJE. Surgical correction of velopharyngeal insufficiency in children with velocardiofacial syndrome. Plast Reconstr Surg. 2006;117(5):1493–1498.
18.
McDonald-McGinnDMSullivanKEMarinoBPhilipNSwillenAVorstmanJAZackaiEHEmanuelBSVermeeschJRMorrowBE, et al.22q11.2 deletion syndrome. Nat Rev Dis Primers. 2015;1:15071.
19.
MilczukHASmithDSBrockmanJH. Surgical outcomes for velopharyngeal insufficiency in velocardiofacial syndrome and nonsyndromic patients. Cleft Palate Craniofac J. 2007;44(4):412–417.
20.
NachmaniAAizenbudDBergerGBergeRLHazan-MolinaHFinkelsteinY. The prevalence of platybasia in patients with velopharyngeal incompetence. Cleft Palate Craniofac J. 2013;50(5):528–534.
21.
ParkMAhnSHJeongJHBaekRM. Evaluation of the levator veli palatini muscle thickness in patients with velocardiofacial syndrome using magnetic resonance imaging. J Plast Reconstr Aesthet Surg. 2015;68(8):1100–1105.
22.
PerryJL. Variations in velopharyngeal structures between upright and supine positions using upright magnetic resonance imaging. Cleft Palate Craniofac J. 2011;48(2):123–133.
23.
PerryJLKollaraLKuehnDPSuttonBPFangX. Examining age, sex, and race characteristics of velopharyngeal structures among young children using magnetic resonance imaging. Cleft Palate Craniofac J. 2018;55(1):21–34.
24.
PerryJLKuehnDPSuttonBPFangX. Velopharyngeal structural and functional assessment of speech in young children using dynamic magnetic resonance imaging. Cleft Palate Craniofac J. 2017;54(4):408–422.
25.
PerryJLKuehnDPSuttonBPGoldwasserMSJerezAD. Craniometric and velopharyngeal assessment of infants with and without cleft palate. J Craniofac Surg. 2011;22(2):499–503.
26.
PunjabiAHolshouserBAD’AntonioLLKuehnDP. Magnetic resonance imaging of the velopharynx in patients with velocardiofacial syndrome. Paper presented at: the American Cleft Palate Craniofacial Association Annual Meeting, 2002, Seattle, WA.
27.
RuotoloRAVeitiaNACorbinAMcDonoughJSolotCBMcDonald-McGinnDZackaiEHEmanuelBSCnaanALaRossaD, et al.Velopharyngeal anatomy in 22q11.2 deletion syndrome: a three-dimensional cephalometric analysis. Cleft Palate Craniofac J. 2006;43(4):446–456.
28.
ShprintzenRJ. Velo-cardio-facial syndrome: 30 years of study. Dev Disabil Res Rev. 2008;14(1):3–10.
29.
ShprintzenRJGolding-KushnerK. Velo-Cardio-Facial Syndrome: Volume I. 1st ed. San Diego, CA: Plural Publishing; 2008.
30.
SwansonEWSullivanSRRidgwayEBMarrinanEMMullikenJB. Speech outcomes following pharyngeal flap in patients with velocardiofacial syndrome. Plast Reconstr Surg. 2011;127(5):2045–2053.
31.
TianWLiYYinHZhaoSFLiSWangYShiB. Magnetic resonance imaging assessment of velopharyngeal motion in Chinese children after primary palatal repair. J Craniofac Surg. 2010a;21(2):578–587.
32.
TianWYinHRedettRJShiBShiJZhangRZhengQ. Magnetic resonance imaging assessment of the velopharyngeal mechanism at rest and during speech in Chinese adults and children. J Speech Lang Hear Res. 2010b;53(6):1595–1615.
33.
VeerapandiyanABlalockDGhoshSIpEBarnesCShashiV. The role of cephalometry in assessing velopharyngeal dysfunction in velocardiofacial syndrome. Laryngoscope. 2011;121(4):732–737.
34.
WittPCohenDGramesLMMarshJ. Sphincter pharyngoplasty for the surgical management of speech dysfunction associated with velocardiofacial syndrome. Br J Plast Surg. 1999;52(8):613–618.
35.
YsunzaACarmen PamplonaMSantiago MoralesMA. Velopharyngeal valving during speech, in patients with velocardiofacial syndrome and patients with non-syndromic palatal clefts after surgical and speech pathology management. Int J Pediatr Otorhinolaryngol. 2011;75(10):1255–1259.
36.
YsunzaAPamplonaMCMolinaFHernandezA. Surgical planning for restoring velopharyngeal function in velocardiofacial syndrome. Int J Pediatr Otorhinolaryngol. 2009;73(11):1572–1575.
37.
YsunzaAPamplonaMCOrtegaJMPradoH. Video fluoroscopy for evaluating adenoid hypertrophy in children. Int J Pediatr Otorhinolaryngol. 2008;72(8):1159–1165.
38.
ZimSSchelperRKellmanRTatumSPloutz-SnyderRShprintzenR. Thickness and histologic and histochemical properties of the superior pharyngeal constrictor muscle in velocardiofacial syndrome. Arch Facial Plast Surg. 2003;5(6):503–510.
