Is Isolated Palatal Anomaly an Indication to Screen for 22q11 Region Deletion?

2003 ◽  
Vol 40 (2) ◽  
pp. 176-179 ◽  
Author(s):  
Orit Reish ◽  
Yehuda Finkelstein ◽  
Ronit Mesterman ◽  
Ariela Nachmani ◽  
Baruch Wolach ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Young Patients ◽  
Velocardiofacial Syndrome ◽  
Clinical Findings ◽  
Velopharyngeal Insufficiency ◽  
Facial Dysmorphism ◽  
22Q11 Deletion ◽  
22Q11 Region

Objective Velocardiofacial syndrome (VCFS) is the most common multiple anomaly disorder associated with palatal clefting. Cytogenetic hemizygous deletion of 22q11 region is found in 80% of patients. The frequency of 22q11 deletion in patients presenting with isolated palatal anomalies has not been fully assessed. Our objective was to determine the frequency of the deletion in patients with isolated palatal anomalies. Design Patients were referred because of velopharyngeal insufficiency because of isolated congenital palatal anomalies. Diagnosis of palatal anomalies was confirmed by videonasopharyngoscopy, multiview videofluoroscopy and cephalometry. Other clinical findings suggestive of VCFS were sought, and subjects with these characteristics were excluded from the study. Peripheral blood samples from all patients were analyzed cytogenetically utilizing fluorescent in situ hybridization for the 22q11 region. Results Thirty-eight patients aged 3 to 31 years were included in the study. Nine had cleft palate, 7 cleft lip and palate, 10 overt and 11 occult submucous cleft palate, and 1 had a deep nasopharynx. No deletion of 22q11 region was detected in any of the evaluated patients. Conclusions A routine screening for the 22q11 deletion in older children and adults presenting with an isolated palatal anomaly may not be required. Because other signs related to VCFS such as facial dysmorphism and behavioral or psychiatric disorders may evolve at an older age, young patients should be followed up and reevaluated for additional relevant symptoms that may lead to deletion evaluation. In light of the fact that the current literature is inconsistent, the relative small size of this study and the significant consequences of missed 22q11.2 deletion, more information is needed before definitive recommendations can be made.

Greater Palatal Cleft Width Predicts an Increased Risk for Unfavorable Outcomes in Cleft Palate Repair

2021 ◽  
pp. 105566562110295
Author(s):  
Åsa C. Okhiria ◽  
Fatemeh Jabbari ◽  
Malin M. Hakelius ◽  
Monica M. Blom Johansson ◽  
Daniel J. Nowinski
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
University Hospital ◽  
Velopharyngeal Insufficiency ◽  
Secondary Surgery ◽  
Increased Risk ◽  
Cleft Palate Repair ◽  
The Impact ◽  
Nasal Emission

Objective: To investigate the impact of cleft width and cleft type on the need for secondary surgery and velopharyngeal competence from a longitudinal perspective. Design: Retrospective, longitudinal study. Setting: A single multidisciplinary craniofacial team at a university hospital. Patients: Consecutive patients with unilateral or bilateral cleft lip and palate and cleft palate only (n = 313) born from 1984 to 2002, treated with 2-stage palatal surgery, were reviewed. A total of 213 patients were included. Main Outcome Measures: The impact of initial cleft width and cleft type on secondary surgery. Assessment of hypernasality, audible nasal emission, and glottal articulation from routine follow-ups from 3 to 16 years of age. The assessments were compared with reassessments of 10% of the recordings. Results: Cleft width, but not cleft type, predicted the need for secondary surgery, either due to palatal dehiscence or velopharyngeal insufficiency. The distribution of cleft width between the scale steps on a 4-point scale for hypernasality and audible nasal emission differed significantly at 5 years of age but not at any other age. Presence of glottal articulation differed significantly at 3 and 5 years of age. No differences between cleft types were seen at any age for any speech variable. Conclusions: Cleft width emerged as a predictor of the need for secondary surgery as well as more deviance in speech variables related to velopharyngeal competence during the preschool years. Cleft type was not related to the need for secondary surgery nor speech outcome at any age.

Treatment of Asymmetric Velopharyngeal Insufficiency with Skewed Pharyngeal Flap

1994 ◽  
Vol 31 (4) ◽  
pp. 287-294 ◽  
Author(s):  
Ravelo V. Argamaso ◽  
Gerald J. Levandowski ◽  
Karen J. Golding-Kushner ◽  
Robert J. Shprintzen
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Tumor Resection ◽  
Velocardiofacial Syndrome ◽  
Velopharyngeal Insufficiency ◽  
Lateral Pharyngeal Wall ◽  
Pharyngeal Wall ◽  
Wall Movement ◽  
Hypernasal Speech

Twenty-two patients, with hypernasal speech and asymmetric velopharyngeal insufficiency (VPI) identified preoperatively by multi-view videofluoroscopy and nasopharyngoscopy, were managed with superiorly based pharyngeal flaps skewed to the side with reduced lateral pharyngeal wall movement. Patient age ranged from 5 to 58 years. The etiology of the VPI included cleft palate with or without cleft lip, neurogenic VPI, velocardiofacial syndrome, tumor resection or latrogenic causes, submucous cleft palate, neurofibromatosis, and hemifacial microsomia. Follow-up, at 1 year and thereafter, showed resolution of VPI in all but two patients. An auxiliary flap to augment the primary flap was added on the side of diminished lateral pharyngeal wall motion which corrected the residual VPI. Three patients developed hyponasality. One was a child whose symptoms improved with time and growth. Two were adults, but the hyponasal resonance was mild and required no further Intervention. The advantage of skewing flaps is that at least one port functions adequately for ease in respiration and for drainage of secretions, thus reducing the risk of nasal obstruction. One open port also allows access for nasoendotracheal intubation should anesthetic be required for future operations.

The Prevalence of Apraxia Characteristics in Patients with Velocardiofacial Syndrome as Compared with Other Cleft Populations

2007 ◽  
Vol 44 (2) ◽  
pp. 175-181 ◽  
Author(s):  
Ann W. Kummer ◽  
Linda Lee ◽  
Lindsay Schaadt Stutz ◽  
Adam Maroney ◽  
Jennifer Weidenbach Brandt
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Medical Center ◽  
Velocardiofacial Syndrome ◽  
High Prevalence ◽  
History Of ◽  
Oral Motor Function ◽  
A Prospective Study ◽  
Abnormal Brain

Objective: The purpose of this study was to assess the oral-motor function of children with a history of cleft lip and palate, cleft palate only, velocardiofacial syndrome, and children with normal oral structures to determine if children with velocardiofacial syndrome have more apraxia characteristics than the other populations have. Design: The Apraxia Profile (Hickman, 1997) was administered to all participants in a prospective study. Setting: The investigation was conducted at Cincinnati Children's Hospital Medical Center. Participants: In this study, 10 children with cleft lip and palate, 10 with cleft palate only, 7 with velocardiofacial syndrome, and 47 with normal structures were tested. Results: This study revealed that when compared with children with normal structures, children with cleft lip and palate did not demonstrate significant apraxia characteristics, children with cleft palate only demonstrated some apraxia characteristics, and children with velocardiofacial syndrome demonstrated the most apraxia characteristics. Conclusions: There appears to be a high prevalence of apraxia characteristics in the speech of patients with velocardiofacial syndrome. This information has implications for the type of treatment recommended. Further investigation is warranted with a larger patient population and a focus on the association of abnormal brain structure with apraxia in this population.

Speech Intelligibility of Patients with Cleft Lip and Palate after Placement of Speech Prosthesis

2007 ◽  
Vol 44 (6) ◽  
pp. 635-641 ◽  
Author(s):  
João Henrique Nogueira Pinto ◽  
Giseleda Silva Dalben ◽  
Maria Inês Pegoraro-Krook
Keyword(s):  
Cleft Palate ◽  
Speech Intelligibility ◽  
Cleft Lip ◽  
Speech Therapy ◽  
Cleft Lip And Palate ◽  
Velopharyngeal Insufficiency ◽  
Cross Sectional ◽  
Before And After ◽  
Dental Needs

Objective: To evaluate the speech intelligibility of patients with clefts before and after placement of a speech prosthesis. Design: Cross-sectional. Setting: Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo (HRAC/USP), Bauru, Brazil. Patients: Twenty-seven patients with unoperated cleft palate or operated cleft palate presenting with velopharyngeal insufficiency (VPI) after primary palatoplasty, treated with speech prosthesis, aged 8 to 63 years. Interventions: Patients were fitted with palatopharyngeal obturators or pharyngeal bulbs, suitable to their dental needs. Five speech-language pathologists blindly evaluated speech samples of the patients with and without the prosthesis. Main Outcome Measures: Classification of speech samples according to a scoring system developed for speech intelligibility problems: 1 (normal), 2 (mild), 3 (mild to moderate), 4 (moderate), 5 (moderate to severe), and 6 (severe). Results were evaluated by the calculation of means of all judges for each patient in both situations. Results: The judges presented significant agreement (W = .789, p < .01). Speech intelligibility was significantly better after placement of the prosthesis for both unoperated patients (Z = 1.93, p = .02) and operated patients with VPI after primary palatoplasty (Z = 1.78, p = .03). Conclusions: Speech intelligibility may be improved by rehabilitation of patients with cleft palate using a speech prosthesis. Speech therapy is needed to eliminate any compensatory articulation productions developed prior to prosthetic management.

scholarly journals Di George syndrome: Catch 22 (A case report)

2019 ◽  
pp. 128-131
Author(s):  
Aditi Bector ◽  
Mrigank Dogra ◽  
Sumeet Rajpal
Keyword(s):  
Cleft Palate ◽  
Velocardiofacial Syndrome ◽  
Velopharyngeal Insufficiency ◽  
Facial Dysmorphism ◽  
Feeding Difficulties ◽  
Behavioral Abnormalities ◽  
Chromosome 22Q11.2 ◽  
High Prevalence ◽  
Catch 22 ◽  
Di George Syndrome

The deletion of chromosome 22q11.2 is described as Velocardiofacial Syndrome orDi George Syndrome. CATCH 22 stands for cardiac defect, abnormal faces, thymichypoplasia, cleft palate, hypocalcaemia.Other defects seen are velopharyngeal insufficiency with or without cleft palate,immune problems, feeding difficulties, hypocalcaemia, learning disabilities,behavioral abnormalities and lastly characteristic facial features.A high prevalence ofdental caries, abnormalities of tooth shape, eruption and number, and enamel defectssuch as hypomineralisation and hypoplasia are also seen in these patients.A case of 7year old child with Veligocardiofacial syndrome is discussed in thisarticle. Facial dysmorphism and common dental manifestations is typically noticeablein patients with this syndrome. Enamel aberrations related to hypocalcemia mayresult in a higher frequency of dental caries. The dentists need to be aware of thedental features of this condition in order to refer them to the adequate specialists.

Outcomes in Pharyngoplasty: A 10-Year Experience

2006 ◽  
Vol 43 (2) ◽  
pp. 222-225 ◽  
Author(s):  
Landon S. Pryor ◽  
James Lehman ◽  
Michael G. Parker ◽  
Anna Schmidt ◽  
Lynn Fox ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Revisional Surgery ◽  
Retrospective Chart Review ◽  
Surgical Revision ◽  
Velopharyngeal Insufficiency ◽  
Significant Difference ◽  
Potential Risk Factors ◽  
Palate Repair

Objective The outcomes of 61 patients who underwent a pharyngoplasty for velopharyngeal insufficiency were reviewed to determine potential risk factors for reoperation. Design This was a retrospective chart review of 61 consecutive patients over approximately 10 years (1993 to 2003). Variables analyzed included gender, cleft type, age at the time of pharyngoplasty, length of time between palate repair and pharyngoplasty, and associated syndromes. Participants Of the 61 patients, 20 (34%) had a unilateral cleft lip and palate, 5 (8%) had a bilateral cleft lip and palate, 13 (21%) had an isolated cleft palate, 7 (11%) had a submucous cleft palate, and 16 (26%) were diagnosed with noncleft velopharyngeal insufficiency. Results Of the 61 patients, 10 (16%) required surgical revision. No statistically significant difference was found among gender, cleft type, age at the time of pharyngoplasty, the length of time between palate repair and pharyngoplasty, and associated congenital syndromes, with respect to the need for surgical revision (p > .05). Of the surgical revisions, 50% (5) were performed for a pharyngoplasty that was placed too low. Conclusions Because 50% of the pharyngoplasty revisions had evidence of poor velopharyngeal closure and associated hypernasality resulting from low placement of the sphincter, the pharyngoplasty needs to be placed at a high level to reduce the risk for revisional surgery. The pharyngoplasty is a good operation for velopharyngeal insufficiency with an overall success rate of 84% (51 of 61) after one operation and greater than 98% (60 of 61) after two operations.

Quality of Life in Patients With Velopharyngeal Insufficiency in West China

2021 ◽  
pp. 105566562110341
Author(s):  
Lidan Lu ◽  
Aipiziguli Yakupu ◽  
Yanhui Wu ◽  
Xiangnan Li ◽  
Pengxin Zhang ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Cleft Palate ◽  
Cleft Lip ◽  
Mixed Model ◽  
Linear Mixed Model ◽  
Cleft Lip And Palate ◽  
Generalized Linear Mixed Model ◽  
Velopharyngeal Insufficiency ◽  
Caregiver Report

Objective This study aimed to investigate the quality of life (QOL) of patients with cleft lip and palate and velopharyngeal insufficiency (VPI) in relation to sex, age, age at initial cleft lip surgery, and age at initial cleft palate surgery. Design This is a cross-sectional study. Setting The study was conducted in a tertiary medical center. Participants The participants were caregivers of 72 patients with cleft lip and palate and VPI aged 4 to 20 years. Main Outcome Measure(s) Participants completed the Chinese version of the caregiver report of the VPI Effects on Life Outcomes (VELO) questionnaire. The Mann–Whitney U test was used to evaluate the patients’ sex, age, age at initial cleft lip repair, and age at initial cleft palate repair in relation to VELO total score and domains. Spearman correlation analysis was completed including all study variables. Associations between the study variables and the VELO total score were tested using a generalized linear mixed model. Results In the univariate analysis, patients’ age and age at initial cleft palate surgery influenced the QOL of patients with VPI. There were no differences in the VELO total score or domains based on sex or age at first cleft lip surgery. In the generalized linear mixed model, patients older than 8 years had higher VELO total scores. Conclusions By caregiver report, the QOL of patients under age 8 years with VPI was lower than older patients. In addition, the caregiver impact domain was higher for parents of children who had their initial cleft palate surgery at age 2 years or younger.

Cleft Lip and Palate in CHARGE Syndrome

2017 ◽  
Vol 55 (3) ◽  
pp. 342-347 ◽  
Author(s):  
Kathryn V. Isaac ◽  
Ingrid M. Ganske ◽  
Stephen A. Rottgers ◽  
So Young Lim ◽  
John B. Mulliken
Keyword(s):  
Hearing Loss ◽  
Cleft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Choanal Atresia ◽  
Semicircular Canals ◽  
Charge Syndrome ◽  
Velopharyngeal Insufficiency ◽  
Feeding Difficulties ◽  
Dentofacial Orthopedics

Objective: Infants with syndromic cleft lip and/or cleft palate (CL/P) often require more complex care than their nonsyndromic counterparts. Our purpose was to (1) determine the prevalence of CL/P in patients with CHARGE syndrome and (2) highlight factors that affect management in this subset of children. Design: This is a retrospective review from 1998 to 2016. Patients: Patients with CHARGE syndrome were diagnosed clinically and genetically. Main Outcomes Measures: Prevalence of CL/P was determined and clinical details tabulated: phenotypic anomalies, cleft types, operative treatment, and results of repair. Results: CHARGE syndrome was confirmed in 44 patients: 11 (25%) had cleft lip and palate and 1 had cleft palate only. Surgical treatment followed our usual protocols. Two patients with cardiac anomalies had prolonged recovery following surgical correction, necessitating palatal closure prior to nasolabial repair. One of these patients was too old for dentofacial orthopedics and underwent combined premaxillary setback and palatoplasty, prior to labial closure. Velopharyngeal insufficiency was frequent (n = 3/7). All patients had feeding difficulty and required a gastrostomy tube. All patients had neurosensory hearing loss; anomalies of the semicircular canals were frequent (n = 3/4). External auricular anomalies, colobomas, and cardiovascular anomalies were also common (n = 8/11). Other associated anomalies were choanal atresia (n = 4/11) and tracheoesophageal fistula (n = 2/11). Conclusions: CHARGE syndrome is an under-recognized genetic cause of cleft lip and palate. Hearing loss and speech and feeding difficulties often occur in these infants. Diagnosis can be delayed if the child presents with covert phenotypic features, such as chorioretinal colobomas, semicircular canal hypoplasia, and unilateral choanal atresia.

scholarly journals The Relationship between the Type of Cleft and Nasal Air Emission in Speech of Children with Cleft Palate or Cleft Lip and Palate

2019 ◽  
Vol 7 (3) ◽  
pp. 352-357
Author(s):  
Tatjana Georgievska-Jancheska
Keyword(s):  
Cleft Palate ◽  
Speech Production ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Velopharyngeal Insufficiency ◽  
P Value ◽  
Air Emission ◽  
Perceptual Assessment ◽  
Assessment Procedures ◽  
The Relationship

BACKGROUND: Cleft palate, due to damage of the soft palate, leads to dysfunction, i.e., inappropriate closure of the velopharynx during speech production, thus resulting in velopharyngeal insufficiency which characterises with hypernasal speech and nasal air loss/emission during speech production. AIM: To establish the relationship between the type of cleft according to the Veau classification and the degree of nasal air emission in the speech of patients with cleft using auditory-visual perceptual assessment procedures. MATERIAL AND METHODS: A group of 40 patients with irregular speech aged 4 to 7, out of which 20 with cleft palate or cleft lip and palate, participated in the research. The Veau classification was used to classify the cleft severity, while an indirect instrumental examination was conducted with the See-Scape instrument to detect nasal air emission during the speech. RESULTS: The respondents with cleft palate or cleft lip and palate of higher Veau class had a greater degree of nasal air emission during the speech. There is a positive, statistically significant correlation between the results obtained with the Veau classification of cleft lip and palate, and the degree of nasal air emission. The value of Spearman’s coefficient of correlation is R = 0.46, and the calculated p-value is p = 0.04. CONCLUSION: A more severe cleft type is associated with an increased degree of nasal air emission during the speech, and vice versa.

Relationship of Velopharyngeal Insufficiency With Face Mask Therapy in Patients With Cleft Lip and Palate

2019 ◽  
Vol 57 (1) ◽  
pp. 118-122 ◽  
Author(s):  
Narmin Helal ◽  
Matthew Ford ◽  
Osama Basri ◽  
Lindsay Schuster ◽  
Brian Martin ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Pediatric Patients ◽  
Cleft Lip And Palate ◽  
Face Mask ◽  
The United States ◽  
Velopharyngeal Insufficiency ◽  
Patient Counseling ◽  
Maxillary Protraction ◽  
Increased Risk

Objective: To determine whether orthodontic/dentofacial orthopedic maxillary protraction face mask therapy induces changes in velopharyngeal functioning in a cohort of pediatric patients having cleft palate with or without cleft lip. Design: Retrospective chart review. Setting: A children’s hospital in the United States. Participants: Forty-three pediatric patients with cleft palate, with or without cleft lip, syndromic or with isolated clefts, who received face mask therapy from January 2009 to April 2016. Intervention: Clinical data were extracted for review and analysis from medical records obtained from the Cleft Database/Research Registry (CDB-RR). Main Outcome Measures: Pittsburgh Weighted Speech Scores (PWSS) before and after therapy. Results: There was a significant increase in PWSS after face mask therapy for patients with a PWSS score of 0 prior to treatment. Patients with PWSS >0 before treatment remained largely stable after face mask therapy. Maxillary advancement was not significantly associated with change in PWSS or fistula presence/absence. Conclusions: There is an increased risk of velopharyngeal insufficiency with maxillary protraction face mask treatment in patients with cleft palate. Patient counseling and obtaining consent regarding speech changes during treatment are recommended.

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