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  1. Article ; Online: Adult-onset obstructive sleep apnea and pediatric pharyngoplasty in 22q11.2 deletion syndrome.

    Cancelliere, Sabrina / Heung, Tracy / Fischbach, Simone / Klaiman, Paula / Bassett, Anne S

    Sleep medicine

    2023  Volume 104, Page(s) 49–55

    Abstract: Objective/background: We aimed to evaluate adult-onset obstructive sleep apnea (OSA) and related risk factors, including history of pediatric palatal/pharyngeal surgery to remediate velopharyngeal dysfunction, in 22q11.2 deletion syndrome (22q11.2DS).!## ...

    Abstract Objective/background: We aimed to evaluate adult-onset obstructive sleep apnea (OSA) and related risk factors, including history of pediatric palatal/pharyngeal surgery to remediate velopharyngeal dysfunction, in 22q11.2 deletion syndrome (22q11.2DS).
    Patients/methods: Using a retrospective cohort design and standard sleep study-based criteria, we determined presence of adult-onset OSA (age ≥16 years) and relevant variables through comprehensive chart review in a well-characterized cohort of 387 adults with typical 22q11.2 microdeletions (51.4% female, median age 32.3, interquartile range 25.0-42.5, years). We used multivariate logistic regression to identify independent risk factors for OSA.
    Results: Of the 73 adults with sleep study data, 39 (53.4%) met criteria for OSA at median age 33.6 (interquartile range 24.0-40.7) years, indicating a minimum OSA prevalence of 10.1% in this 22q11.2DS cohort. History of pediatric pharyngoplasty (odds ratio 2.56, 95% confidence interval 1.15-5.70) was a significant independent predictor of adult-onset OSA, while accounting for other significant independent predictors (asthma, higher body mass index, older age), and for male sex. An estimated 65.5% of those prescribed continuous positive airway pressure therapy were reported as adherent.
    Conclusions: In addition to factors of known importance in the general population, delayed effects of pediatric pharyngoplasty may contribute to risk of adult-onset OSA in individuals with 22q11.2DS. The results support increased index of suspicion for OSA in adults with a 22q11.2 microdeletion. Future research with this and other homogeneous genetic models may help to improve outcomes and to better understand genetic and modifiable risk factors for OSA.
    MeSH term(s) Humans ; Child ; Adult ; Male ; Female ; Young Adult ; Adolescent ; DiGeorge Syndrome/complications ; DiGeorge Syndrome/genetics ; DiGeorge Syndrome/surgery ; Retrospective Studies ; Pharynx/surgery ; Sleep Apnea, Obstructive/epidemiology ; Sleep Apnea, Obstructive/genetics ; Sleep Apnea, Obstructive/surgery ; Risk Factors
    Language English
    Publishing date 2023-02-16
    Publishing country Netherlands
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2012041-2
    ISSN 1878-5506 ; 1389-9457
    ISSN (online) 1878-5506
    ISSN 1389-9457
    DOI 10.1016/j.sleep.2023.02.010
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  2. Article ; Online: Production of two Nasal Sounds by Speakers with Cleft Palate.

    Bressmann, Tim / Radovanovic, Bojana / Harper, Susan / Klaiman, Paula / Fisher, David / Kulkarni, Gajanan V

    The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    2018  Volume 55, Issue 6, Page(s) 876–882

    Abstract: Many speakers with cleft palate develop atypical consonant productions, especially for pressure consonants such as plosives, fricatives, and affricates. The present study investigated the nature of nasal sound errors. The participants were eight female ... ...

    Abstract Many speakers with cleft palate develop atypical consonant productions, especially for pressure consonants such as plosives, fricatives, and affricates. The present study investigated the nature of nasal sound errors. The participants were eight female and three male speakers with cleft palate between the ages of 6 to 20. Speakers were audio-recorded, and midsagittal tongue movement was captured with ultrasound. The speakers repeated vowel-consonant-vowel with the vowels /α/, /i/, and /u/ and the alveolar and velar nasal consonants /n/ and /η/. The productions were reviewed by three listeners. The participants showed a variety of different placement errors and insertions of plosives, as well as liquid productions. There was considerable error variability between and within speakers, often related to the different vowel contexts. Three speakers co-produced click sounds. The study demonstrated the wide variety of sound errors that some speakers with cleft palate may demonstrate for nasal sounds. Nasal sounds, ideally in different vowel contexts, should be included in articulation screenings for speakers with cleft palate, perhaps more than is currently the case.
    MeSH term(s) Adolescent ; Articulation Disorders/etiology ; Articulation Disorders/physiopathology ; Child ; Cleft Lip/complications ; Cleft Lip/physiopathology ; Cleft Palate/complications ; Cleft Palate/physiopathology ; Female ; Humans ; Male ; Speech Production Measurement/methods ; Tongue/diagnostic imaging ; Tongue/physiopathology ; Ultrasonography ; Young Adult
    Language English
    Publishing date 2018-02-26
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1069409-2
    ISSN 1545-1569 ; 0009-8701 ; 1055-6656
    ISSN (online) 1545-1569
    ISSN 0009-8701 ; 1055-6656
    DOI 10.1597/16-096
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  3. Article ; Online: Impact of 22q deletion syndrome on speech outcomes following primary surgery for submucous cleft palate.

    Bezuhly, Michael / Fischbach, Simone / Klaiman, Paula / Fisher, David M

    Plastic and reconstructive surgery

    2011  Volume 129, Issue 3, Page(s) 502e–510e

    Abstract: Background: Patients with 22q deletion syndrome are at increased risk of submucous cleft palate and velopharyngeal insufficiency. The authors' aim is to evaluate speech outcomes following primary Furlow palatoplasty or pharyngeal flap for correction of ... ...

    Abstract Background: Patients with 22q deletion syndrome are at increased risk of submucous cleft palate and velopharyngeal insufficiency. The authors' aim is to evaluate speech outcomes following primary Furlow palatoplasty or pharyngeal flap for correction of velopharyngeal insufficiency in submucous cleft palate patients with and without 22q deletion syndrome.
    Methods: Records of submucous cleft palate patients who underwent primary surgery between 2001 and 2010 were reviewed. Data included 22q deletion syndrome diagnosis, age at surgery, procedure, preoperative nasopharyngoscopy and nasometry, speech outcomes, complications, and secondary surgery rates.
    Results: Seventy-eight submucous cleft palate patients were identified. Twenty-three patients had 22q deletion syndrome. Fewer 22q deletion syndrome patients obtained normal resonance on perceptual assessment compared with nonsyndromic patients (74 percent versus 88 percent). A similar difference existed based on postoperative nasometric scores. Among 22q deletion syndrome patients, similar success rates were achieved with Furlow palatoplasty and pharyngeal flap. No difference in the proportion improved postoperatively was noted between 22q deletion syndrome and nonsyndromic groups. One complication was experienced per group. More revision operations were indicated in the 22q deletion syndrome group (17 percent) compared with the nonsyndromic group (4 percent). Median times to normal resonance for 22q deletion syndrome and nonsyndromic patients were 150 weeks and 34 weeks, respectively. Adjusting for multiple variables, 22q deletion syndrome patients were 3.6 times less likely to develop normal resonance.
    Conclusion: Careful selection of Furlow palatoplasty or pharyngeal flap for primary repair of submucous cleft palate is highly effective in 22q deletion syndrome patients and yields results approaching those of nonsyndromic patients.
    Clinical question/level of evidence: Therapeutic, III.
    MeSH term(s) Adolescent ; Child ; Child, Preschool ; Chromosome Deletion ; Chromosomes, Human, Pair 22/genetics ; Cleft Palate/genetics ; Cleft Palate/surgery ; Female ; Humans ; Male ; Mouth Mucosa ; Retrospective Studies ; Speech ; Syndrome ; Treatment Outcome ; Velopharyngeal Insufficiency/genetics ; Velopharyngeal Insufficiency/surgery
    Language English
    Publishing date 2011-08-25
    Publishing country United States
    Document type Journal Article
    ZDB-ID 208012-6
    ISSN 1529-4242 ; 0032-1052 ; 0096-8501
    ISSN (online) 1529-4242
    ISSN 0032-1052 ; 0096-8501
    DOI 10.1097/PRS.0b013e3182402e52
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  4. Article: Same noses, different nasalance scores: data from normal subjects and cleft palate speakers for three systems for nasalance analysis.

    Bressmann, Tim / Klaiman, Paula / Fischbach, Simone

    Clinical linguistics & phonetics

    2006  Volume 20, Issue 2-3, Page(s) 163–170

    Abstract: Nasalance scores from the Nasometer, the NasalView and the OroNasal System were compared. The data was collected from 50 normal participants and 19 hypernasal patients with cleft palate. The Nasometer had the lowest nasalance scores for the non-nasal Zoo ...

    Abstract Nasalance scores from the Nasometer, the NasalView and the OroNasal System were compared. The data was collected from 50 normal participants and 19 hypernasal patients with cleft palate. The Nasometer had the lowest nasalance scores for the non-nasal Zoo Passage and that the OroNasal System had the lowest nasalance scores for the Nasal Sentences. The nasalance distance was largest for the Nasometer and smallest for the OroNasal System. When the calculation was based on nasalance magnitudes, results for sensitivity ranged from 57.9% to 81.8% and results for specificity ranged from 62.0% to 76.0%. When the calculation was based on nasalance distances, results for sensitivity ranged from 84.2% to 100.0% and results for specificity ranged from 82.0% to 100.0%. Results suggest that nasalance scores from the three systems are not interchangeable. Diagnostic efficacy improved when the calculations were based on nasalance distances rather than magnitudes, but further research is warranted to corroborate these findings.
    MeSH term(s) Adolescent ; Adult ; Case-Control Studies ; Child ; Cleft Palate/physiopathology ; Female ; Humans ; Male ; Nose/physiology ; Nose/physiopathology ; Phonetics ; ROC Curve ; Sensitivity and Specificity ; Speech Acoustics ; Speech Production Measurement
    Language English
    Publishing date 2006-04
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 639459-0
    ISSN 1464-5076 ; 0269-9206
    ISSN (online) 1464-5076
    ISSN 0269-9206
    DOI 10.1080/02699200500270689
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  5. Article ; Online: An ultrasonographic investigation of cleft-type compensatory articulations of voiceless velar stops.

    Bressmann, Tim / Radovanovic, Bojana / Kulkarni, Gajanan V / Klaiman, Paula / Fisher, David

    Clinical linguistics & phonetics

    2011  Volume 25, Issue 11-12, Page(s) 1028–1033

    Abstract: Ultrasound imaging was used to investigate the articulation of the voiceless velar stop [k] in five speakers with compensatory articulation related to cleft palate. The perceptual evaluation of the acoustic realization and the visual assessment of the ... ...

    Abstract Ultrasound imaging was used to investigate the articulation of the voiceless velar stop [k] in five speakers with compensatory articulation related to cleft palate. The perceptual evaluation of the acoustic realization and the visual assessment of the tongue movement for the target sound were made by three examiners. The analysis revealed a variety of different compensatory strategies that included glottal stops, pharyngeal stops, midpalatal stops and glottal and velar co-productions. One patient produced palatal click sounds together with a midpalatal stop. The ultrasound imaging also revealed covert articulatory movements that would have been missed in a purely perceptual analysis. The analysis of the ultrasound images points to subphonemic aspects of cleft-type compensatory articulation that are important to understand for speech therapy.
    MeSH term(s) Adaptation, Physiological/physiology ; Adolescent ; Adult ; Articulation Disorders/diagnostic imaging ; Articulation Disorders/etiology ; Articulation Disorders/physiopathology ; Child ; Cleft Palate/complications ; Cleft Palate/physiopathology ; Female ; Glottis/diagnostic imaging ; Glottis/physiology ; Humans ; Male ; Palate/diagnostic imaging ; Palate/physiology ; Phonation/physiology ; Phonetics ; Speech Production Measurement/methods ; Speech Therapy/methods ; Tongue/diagnostic imaging ; Tongue/physiology ; Ultrasonography/methods ; Young Adult
    Language English
    Publishing date 2011-11
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 639459-0
    ISSN 1464-5076 ; 0269-9206
    ISSN (online) 1464-5076
    ISSN 0269-9206
    DOI 10.3109/02699206.2011.599472
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  6. Article ; Online: Predictors of velopharyngeal insufficiency in cleft palate orthognathic surgery.

    Phillips, John H / Klaiman, Paula / Delorey, Raylene / MacDonald, David Blair

    Plastic and reconstructive surgery

    2005  Volume 115, Issue 3, Page(s) 681–686

    Abstract: The purpose of this study was to appraise the value of preoperative speech assessments, nasopharyngoscopy, and surgical models as predictors of velopharyngeal deterioration after a Le Fort I maxillary advancement in cleft patients. This retrospective ... ...

    Abstract The purpose of this study was to appraise the value of preoperative speech assessments, nasopharyngoscopy, and surgical models as predictors of velopharyngeal deterioration after a Le Fort I maxillary advancement in cleft patients. This retrospective study involved a series of 26 cleft patients (16 unilateral complete and nine bilateral complete cleft lips and palates, and one isolated complete cleft palate) who had Le Fort I maxillary advancements between March 1, 1993, and February 7, 1996. The 13 male patients and 13 female patients ranged in age from 15.3 to 46 years (mean age, 19.5 years). Four of these patients had previously undergone pharyngeal flap surgery. Eleven patients had palatal fistulas and one had a bifid uvula that was repaired at the time of orthognathic surgery. Patients with perceived hypernasal speech preoperatively all had hypernasality after advancement (nine of nine). Velopharyngeal insufficiency was observed in two of the 16 whose resonance preoperatively was within normal limits. Speech assessment, therefore, predicted accurately the postoperative status in 23 of 26 patients. Twelve patients had preoperative nasopharyngoscopy that indicated a high risk for velopharyngeal insufficiency (borderline or inadequate closure). Nine of these patients had postoperative velopharyngeal insufficiency. Two of the 14 patients not judged at risk by nasopharyngoscopy developed velopharyngeal insufficiency. Therefore, 21 of the 26 patients were accurately predicted by nasopharyngoscopy. Scoping detected borderline velopharyngeal insufficiency in one patient who was not detected by speech alone. The combined predictive value of speech and scope identified all but one patient who would develop postoperative velopharyngeal insufficiency. The degree of anteroposterior movement determined from surgical models was not predictive of the outcome. Patients with hypernasal speech preoperatively continue to have hypernasal speech after Le Fort I advancement. Preoperative perceptual speech assessment by specially trained speech-language pathologists is an excellent test for predicting postoperative velopharyngeal insufficiency status. Nasopharyngoscopy is an invasive and resource-dependent test that should be assessed with respect to cost effectiveness. In this series, only one patient's risk was more accurately predicted using nasopharyngoscopy than by speech assessment alone.
    MeSH term(s) Adolescent ; Adult ; Cleft Lip/surgery ; Cleft Palate/surgery ; Female ; Humans ; Male ; Middle Aged ; Mouth Diseases/epidemiology ; Mouth Diseases/surgery ; Odds Ratio ; Oral Fistula/epidemiology ; Oral Fistula/surgery ; Osteotomy, Le Fort ; Palate ; Pharynx/physiopathology ; Regression Analysis ; Retrospective Studies ; Risk Factors ; Speech ; Speech Acoustics ; Velopharyngeal Insufficiency/epidemiology ; Velopharyngeal Insufficiency/physiopathology
    Language English
    Publishing date 2005-03
    Publishing country United States
    Document type Journal Article
    ZDB-ID 208012-6
    ISSN 1529-4242 ; 0032-1052 ; 0096-8501
    ISSN (online) 1529-4242
    ISSN 0032-1052 ; 0096-8501
    DOI 10.1097/01.prs.0000152433.29134.79
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  7. Article ; Online: Does velopharyngeal closure pattern affect the success of pharyngeal flap pharyngoplasty?

    Armour, Alexis / Fischbach, Simone / Klaiman, Paula / Fisher, David M

    Plastic and reconstructive surgery

    2005  Volume 115, Issue 1, Page(s) 45–52; discussion 53

    Abstract: Historically at The Hospital for Sick Children in Toronto, pharyngeal flap pharyngoplasty has been the treatment of choice for treatment of velopharyngeal insufficiency, regardless of velopharyngeal closure pattern. The authors hypothesize that ... ...

    Abstract Historically at The Hospital for Sick Children in Toronto, pharyngeal flap pharyngoplasty has been the treatment of choice for treatment of velopharyngeal insufficiency, regardless of velopharyngeal closure pattern. The authors hypothesize that pharyngeal flap pharyngoplasty is more effective in treating velopharyngeal insufficiency in patients with circular or sagittal velopharyngeal closure and less effective in treating the coronal closure pattern. Ninety-three patients who underwent superiorly based pharyngeal flap surgery for velopharyngeal insufficiency were evaluated in a retrospective chart review. Closure pattern was determined preoperatively by nasopharyngoscopy or multiview videofluoroscopy. Nasalance was assessed preoperatively and at 6 weeks and 1 year postoperatively. Nasalance during nonnasal speech was decreased on average, for all closure patterns, postoperatively. However, a significantly higher percentage of patients were corrected to normal nasalance scores in thenoncoronal group than in the coronal group (57 percent versus 35 percent, respectively) at 1 year postoperatively (p < 0.05). Surgical overcorrection, as determined by postoperative hyponasality, occurred at a rate of 13 percent in the coronal group versus 7 percent in the noncoronal group (not statistically significant). The results demonstrate that hypernasality in patients with a coronal velopharyngeal closure pattern can be improved by pharyngeal flap pharyngoplasty. This procedure, however, is more frequently effective in correcting noncoronal closure pattern velopharyngeal insufficiency than coronal pattern velopharyngeal insufficiency. The authors are now more selective in their approach to the management of velopharyngeal insufficiency and are more inclined to treat coronal pattern velopharyngeal insufficiency with sphincter pharyngoplasty.
    MeSH term(s) Adolescent ; Articulation Disorders/etiology ; Child ; Cohort Studies ; Female ; Humans ; Male ; Postoperative Complications/etiology ; Reconstructive Surgical Procedures/methods ; Retrospective Studies ; Surgical Flaps ; Treatment Outcome ; Velopharyngeal Insufficiency/complications ; Velopharyngeal Insufficiency/surgery ; Voice Disorders/etiology ; Voice Quality
    Language English
    Publishing date 2005-01
    Publishing country United States
    Document type Comparative Study ; Evaluation Studies ; Journal Article ; Review
    ZDB-ID 208012-6
    ISSN 1529-4242 ; 0032-1052 ; 0096-8501
    ISSN (online) 1529-4242
    ISSN 0032-1052 ; 0096-8501
    Database MEDical Literature Analysis and Retrieval System OnLINE

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