Sphincter pharyngoplasty for the surgical management of speech dysfunction associated with velocardiofacial syndrome

Transcription

1 ritish Journal of Plastic Surgery (1999), 52, The ritish ssociation of Plastic Surgeons Sphincter pharyngoplasty for the surgical management of speech dysfunction associated with velocardiofacial syndrome P. Witt, D. Cohen, L. M. Grames* and J. Marsh Department of Plastic and Reconstructive Surgery and *Department of Therapy Services, Speech and Language, Washington University School of Medicine at St Louis Children s Hospital, St Louis, US SUMMRY. There are no reports in the literature that document the effectiveness of sphincter pharyngoplasty as a surgical alternative to pharyngeal flap for management of velopharyngeal dysfunction in patients with velocardiofacial syndrome. retrospective review of patients with velocardiofacial syndrome was undertaken at our tertiary cleft care centre. ll patients were managed between 1984 and 1996 at the Cleft Palate and Craniofacial Deformities Institute, St Louis Children s Hospital. Subjects (n = 19) underwent velopharyngeal surgical management on the basis of perceptual speech evaluations and instrumental assessments of inadequate velopharyngeal closure. ll patients had a molecular diagnosis of velocardiofacial syndrome based on fluorescent in situ hybridisation analysis of peripheral blood lymphocytes and independent evaluation by a medical geneticist. Surgical outcome was classified as successful if perceptual speech assessment indicated elimination of hypernasality, nasal emission and turbulence, and instrumental assessment indicated 100% velopharyngeal closure. Results showed that 18 of 19 patients were managed successfully with sphincter pharyngoplasty. Our data corroborate that sphincter pharyngoplasty is a reasonable alternative to pharyngeal flap in patients with velopharyngeal dysfunction secondary to velocardiofacial syndrome The ritish ssociation of Plastic Surgeons Keywords: velocardiofacial syndrome, velopharyngeal dysfunction, submucous cleft palate, speech, sphincter, pharyngoplasty. Velocardiofacial syndrome, also known as Shprintzen syndrome or 22q11 microdeletion syndrome, was delineated as a specific multiple-anomaly disorder in 1978, with over 30 clinical features described in a subsequent series of publications. 1 4 Major findings include cleft palate (overt, submucous, or occult submucous), conotruncal heart anomalies, learning disabilities, 5 characteristic facies, 6 and the possibility of adult psychosis. 7 The mode of inheritance was confirmed as autosomal dominant, 8 and a genetic deletion thought to be the cause of the syndrome has been isolated to the long arm of chromosome 22 by molecular analysis. 9 Velocardiofacial syndrome is the most common syndrome associated with cleft palate, comprising approximately 8% of all cases of cleft palate without cleft lip (including submucous cleft palate), and approximately 5% of the patient population at cleft palate/craniofacial centres. 10,11 Robin sequence, CHRGE association, and DiGeorge sequence may all occur as secondary features of velocardiofacial syndrome. pproximately 15% of all velocardiofacial syndrome cases have Robin sequence, and 11% of all Robin sequence patients have velocardiofacial syndrome. 12 Many individuals with velocardiofacial syndrome also have velopharyngeal dysfunction which impairs speech intelligibility, causes stigmatisation, and often Portions of this paper were presented at the 8th International Congress on Cleft Palate and Related Craniofacial nomalies, Singapore, 1997; and at the 55th nnual Meeting of the merican Cleft Palate- Craniofacial ssociation, altimore, MD, necessitates physical management of the velopharynx. Reports of difficulties in managing velopharyngeal dysfunction in velocardiofacial syndrome patients have appeared with increasing frequency in the literature. 13,14 The combination of aberrant anatomic and physiologic characteristics seems to diminish the probability of normal velopharyngeal closure in individuals with velocardiofacial syndrome. Velopharyngeal management for these patients usually is surgical, and various possible velopharyngeal narrowing procedures are potentially appropriate. The most common of these are the pharyngeal flap and the sphincter pharyngoplasty. The pharyngeal flap has chronologic precedence and overall may be the most popular operation for management of velopharyngeal dysfunction. 15 To date there are no peer reviewed reports describing the surgical outcome of sphincter pharyngoplasty in the velocardiofacial syndrome population. However, sphincter pharyngoplasty has been criticised in articles appearing in unrefereed publications, and over the internet, as an inappropriate and physiologically unsound treatment for patients with velocardiofacial syndrome. 16,17 Curiously, we have yet to identify a single report in the literature or in our own clinical population, documenting unfavourable outcome characteristics associated with sphincter pharyngoplasty, or its revision, in the velocardiofacial syndrome population. The purpose of this retrospective review was to document our experience with sphincter pharyngoplasty in this difficult-to-manage group of patients.

2 614 ritish Journal of Plastic Surgery Methods Table 1 Classification system for VPD* symptoms Patient population Potential subjects were identified in our computerised craniofacial anomalies registry, and then screened through a direct review of medical records in order to ensure that information about each case was complete, and to certify that all included cases fulfilled explicit temporal, diagnostic, and surgical criteria. This retrospective chart review yielded 19 patients with a molecular diagnosis of velocardiofacial syndrome at a single cleft palate-craniofacial centre evaluated and managed between 1984 and These 19 patients met the following additional criteria: 1. velopharyngeal dysfunction as determined by both perceptual and velopharyngeal visualisation (nasendoscopic and videofluoroscopic) speech evaluations; and 2. surgical management of velopharyngeal dysfunction with sphincter pharyngoplasty. Fourteen patients had a diagnosis of submucous cleft palate and three patients had an incomplete cleft of secondary palate. total of 18 patients with velocardiofacial syndrome were excluded from the study because they had not yet undergone molecular confirmation of their clinical diagnoses. Instead, diagnoses were based on the phenotypical characteristics identified clinically by a medical geneticist. Of those patients excluded, 8 (4 male and 4 female) were treated with a pharyngeal flap; and 10 (9 male, 1 female) were treated with sphincter pharyngoplasty. The study group consisted of 9 males and 10 females, each of whom had been molecularly diagnosed with velocardiofacial syndrome and whose velopharyngeal dysfunction was managed with sphincter pharyngoplasty surgery. The age range for this group was 6 20 years with a mean of 11.8 years, while age at time of surgery varied from 4 to 16 years with a mean of 8.73 years. Identification of velocardiofacial syndrome Definitive diagnosis of velocardiofacial syndrome was established by fluorescent in situ hybridisation (FISH) analysis for submicroscopic deletions of the chromosomal region 22q11 associated with DiGeorge sequence. 4,8 The patients cultured peripheral blood lymphocytes were processed as for routine cytogenetic study and analysed by FISH. The N25 cosmid [D22S75](ONCOR) and a control probe, ph17 [D22S39](ONCOR) which tags chromosome 22 were hybridised to metaphase chromosomes. Each of the 19 patients with a molecularly confirmed diagnosis of velocardiofacial syndrome had a microdeletion on chromosome 22. Pre-treatment and post-treatment evaluations ll perceptual speech evaluations were conducted by one of two experienced speech-language pathologists. Velopharyngeal function was rated on a quartile scale published previously 18 (Table 1) and all patients enrolled in this report were classified as having Type III velopharyngeal dysfunction, namely, symptoms Class 0 Class I Class II Class III No symptoms of VPD detected Psychosocially insignificant VPD symptoms; no treatment indicated VPD symptoms warrant a trial period of speech therapy VPD symptoms warrant surgical or prosthetic palatal management * Velopharyngeal dysfunction that warranted surgical or prosthetic palatal management. Nasendoscopic velopharyngeal evaluations were performed by one experienced paediatric otolaryngologist and the same speech pathologist as for the perceptual evaluations. Fluoroscopic velopharyngeal evaluations were performed by a number of paediatric radiologists in conjunction with the same speech pathologist as for the perceptual and nasendoscopic evaluations. Nasendoscopic and fluoroscopic images were evaluated according to the recommendations of an international working group. 7 Standard upper airway assessments were documented, including the presence or absence of snoring, mouth breathing, apnoea (as determined by airway interview), and nasal airway obstruction. The stability of the lateral pharyngeal walls on deep inspiration against obstruction, i.e. with the mouth and nose closed (Mueller s test), and the presence of hyponasality were assessed subjectively by the same experienced otolaryngologist. No objective measures of hyponasality, such as acoustic correlates, or nasal airflow (e.g. nasometry), were included, nor were formal sleep studies undertaken in all patients. Post-treatment velopharyngeal assessment was performed at 3 and 12 months postoperatively and consisted of the same perceptual, nasendoscopic, fluoroscopic and airway evaluations performed preoperatively. Results of the 12-month follow-up assessment were used for the purposes of this report. Treatment was classified as successful if perceptual oral resonance was within normal limits, 18 there was complete velopharyngeal closure on nasendoscopy and/or fluoroscopy, there was no subjective evidence of upper airway obstruction, and there was no subjective sleep apnoea. Primary management resulting in hyponasality without other morbidity was considered a successful outcome. Criteria for sphincter pharyngoplasty Recommendations for management of velopharyngeal dysfunction were made by consensus among the speech-language pathologist, otolaryngologist, prosthodontist, and plastic surgeon after review of audio and video recordings of standard perceptual speech and instrumental velopharyngeal evaluations. Important factors in determining the type of velopharyngeal management recommended were patient health, airway status, and velopharyngeal functional visualisation, either endoscopically, 19 or fluoroscopically. 20,21 Sphincter pharyngoplasty was recommended for patients with overt microretrognathia or a history

3 Velocardiofacial syndrome: sphincter pharyngoplasty 615 of perinatal respiratory and/or feeding difficulties associated with a small mandible, and those patients with hypodynamic velopharyngeal mechanisms. 14 dditional criteria for recommending sphincter pharyngoplasty included patients with large-gap coronal or circular velopharyngeal closure, and bow-tie closure patterns. In general, suitable candidates demonstrated combination of active velar elevation with poor lateral wall motion. Surgical procedure Standard operative techniques published previously for the sphincter pharyngoplasty procedure were utilised. 22,23 ll surgical velopharyngeal management was either performed or directly supervised by one of two senior plastic surgeons with resident participation. The lateral palatopharyngeus myomucosal flaps were elevated to the height of attempted velopharyngeal closure and were overlapped. transverse incision was made in the posterior pharyngeal wall from the superior end of the posterior limb of one lateral flap to the other. The incision was made at the height of attempted velopharyngeal contact as determined relative to the first cervical vertebra by preoperative radiographic assessment. The continuous cut allowed the lateral flaps to be fully inset, thus eliminating the possibility of bilateral fistulae. Integrity of the newly created sphincter was assisted by suturing the lateral flaps securely to one another and to the superior constrictor and pharyngobasilar membrane. Results Postoperatively, 18 of 19 patients demonstrated successful perceptual speech characteristics and instrumental evaluations of velopharyngeal function. Representative examples of preoperative and postoperative speech videofluoroscopies are shown in Figures 1 4. The patient with an unsuccessful result demonstrated mild persistent hypernasality and mild turbulence. The patient was non-compliant with continued speech therapy, and his parents did not pursue a recommendation for revision surgery (port-tightening). Of the 19 patients treated, 5 patients developed persistent snoring postoperatively, while none did so before treatment. One patient developed clinically significant sleep apnoea, documented by formal sleep study, which resolved within 3 weeks on nasally applied continuous positive airway pressure. 23 Discussion Hypernasality is one of the most consistent findings in velocardiofacial syndrome, and often first calls attention to the syndrome. 24 There is no consensus regarding the ideal operation for management of velopharyngeal dysfunction in patients with velocardiofacial syndrome any more than there is for its management in those having such dysfunction without velocardiofacial syndrome. It has been suggested that management based upon physiological need, i.e. differential treatment for differential diagnosis, 25 should guide the selection of velopharyngeal dysfunction management. Some authors have speculated about possible anatomic and physiologic causes for velopharyngeal dysfunction in this population. Early reports emphasised pharyngeal hypotonia as the major contributory factor to the velopharyngeal dysfunction, 26 and this indeed may prove to be an important feature of velocardiofacial syndrome. Finkelstein et al 27 have suggested that abnormal modes of muscular action in the pharynx predispose patients with velocardiofacial syndrome to obstructive sleep apnoea, a dreaded complication of both sphincter pharyngoplasty and pharyngeal flap. More recently, other authors have indicated that the severely obtuse basicranium has the Figure 1 () Preinterventive lateral fluoroscopic view of the velopharyngeal space at rest position. Thin films of barium line the nasal surface of the velum and posterior pharyngeal wall. () Enlargement detail view of the velopharynx. Dotted line indicates direction vector of velar lift, and extent of the velopharyngeal gap. (V = velum; PPW = posterior pharyngeal wall; C1 = first cervical vertebra).

4 616 ritish Journal of Plastic Surgery Figure 2 () Preinterventive lateral fluoroscopic view of the velopharyngeal space during maximum closure. () Enlargement detail view of the velopharynx demonstrating a persistent gap between the velum and the posterior pharyngeal wall during all speech tasks. (V = velum; PPW = posterior pharyngeal wall; C1 = first cervical vertebra). Figure 3 () Lateral fluoroscopic view of the velopharyngeal space at rest position 3 months after sphincter pharyngoplasty. () Enlargement detail view of the velopharynx showing a broad surface of soft tissue connecting the velum and the posterior pharyngeal wall. effect of making the pharyngeal cavity larger than normal. 13 This excess size of the velopharyngeal space combined with the palatal tissue deficiency associated with clefting, and syndrome specific hypotonia, make adequate velopharyngeal closure difficult. dditionally, these factors may be aggravated by a very small adenoid mass. 28 Our patients with velopharyngeal dysfunction secondary to velocardiofacial syndrome seem to differ from patients with postpalatoplasty velopharyngeal dysfunction in many other ways. Specifically, there is a higher frequency of hypodynamic or adynamic velopharynges in the velocardiofacial syndrome population. 14 The age at velopharyngeal management also differs between symptomatic velocardiofacial and non-velocardiofacial post-palatoplasty patients. Patients with velopharyngeal dysfunction secondary to velocardiofacial syndrome tend to present later than typical patients in the cleft palate population. Patients with velocardiofacial syndrome usually are not identified at birth, but rather during evaluation of one of the syndrome s stigmata: hypernasal speech, cardiac murmur, or impaired learning. Of these, speech and learning difficulties tend to be identified by the primary school system. Often several years of speech therapy have been tried, in vain, before referral is made to a cleft team for evaluation and management of speech dysfunction. Objections to the use of sphincter pharyngoplasty have focused on the theoretical argument that it may

5 Velocardiofacial syndrome: sphincter pharyngoplasty 617 Figure 4 () Lateral fluoroscopic view of the velopharyngeal space during maximum closure 3 months after sphincter pharyngoplasty. () Enlargement detail view of the velopharynx showing complete velopharyngeal closure. Large arrow indicates position of central sphincteric orifice, and obliteration of velopharyngeal gap. prove to be a bridge burner. 17 It is argued that because sphincter pharyngoplasty creates a permanent ridge of tissue along the posterior pharyngeal wall, revision of a failed operation may be problematic. While it is true that success rates for revisions of pharyngeal flap have been computed for a larger number of cases than for sphincter pharyngoplasty, sufficient data currently exist to demonstrate a favourable outcome experience with sphincter pharyngoplasty revisions. 29,30 Use of sphincter pharyngoplasty has been discouraged on the basis that it is unphysiologic. This is a debatable point. s noted, velocardiofacial syndrome patients commonly present with hypodynamic velopharyngeal mechanisms. Obturation of such velopharynges would require a wide, virtually obstructive pharyngeal flap. dmittedly, a wide obstructive pharyngeal flap should provide success 100% of the time, if elimination of hypernasality, nasal turbulence and facial grimacing is the criterion of success. However, such a procedure will inevitably produce, in some patients, significant nasal airway obstruction with the risk of chronic sinusitis, obligate mouth breathing with the possibility of impaired dentoskeletal development, denasal resonance, and clinical sleep apnoea. In our report, we have used rigid criteria for success, including normal perceptual resonance, complete velopharyngeal closure on velopharyngeal diagnostic imaging, upper airway patency, and absence of sleep apnoea. We included hyponasality without other associated morbidity as success since it is virtually impossible to control velopharyngeal dysfunction in the adynamic velopharynx without inducing denasality. It is our impression that in a social setting hyponasality causes stigmatisation less commonly than hypernasality. The size and composition of the patient population are the most obvious methodological limitations in this report. First, regarding sample size, the number of patients meeting the strict criteria for subject selection was small. We have no intention of drawing conclusions about the relative efficacy of sphincter pharyngoplasty over pharyngeal flap, or any other operation. Indeed, the comparative efficacy of the two operations in the velocardiofacial population is unknown. Given that velocardiofacial syndrome was described fairly recently, determination of comparative efficacy will likely await prospective, multicentre collaborative research to achieve satisfactory patient accrual. Rather, we hope this report highlights a previously unpublished point; that sphincter pharyngoplasty is an acceptable alternative to pharyngeal flap for the management of velopharyngeal dysfunction in some carefully selected patients with velocardiofacial syndrome. References 1. Shprintzen RJ, Goldberg R, Lewin ML, et al. new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome. Cleft Palate J 1978; 15: Lipson H, Yuille D, ngel M, Thompson PG, Vandervoord JG, eckenham EJ. Velocardiofacial (Shprintzen) syndrome: an important syndrome for the dysmorphologist to recognise. J Med Genet 1991; 28: Meinecke P, eemer F, Schinzel, Kushnick T. The velocardio-facial (Shprintzen) syndrome. Eur J Pediatr 1986; 145: Goldberg R, Motzkin, Marion R, Scambler PJ, Shprintzen RJ. Velo-cardio-facial syndrome: a review of 120 patients. m J Med Genet 1993; 45: Kok LL, Solman RT. Velocardiofacial syndrome: learning difficulties and intervention. J Med Genet 1995; 32: Motzkin, Marion R, Goldberg R, Shprintzen R, Saenger P. Variable phenotypes in velocardiofacial syndrome with chromosomal deletion. J Pediatr 1993; 123: Golding-Kushner KJ, rgamaso RV, Cotton RT, et al. Standardization for the reporting of nasopharyngoscopy and multiview videofluoroscopy: a report from an international working group. Cleft Palate J 1990; 27: Kelly D, Goldberg R, Wilson D, et al. Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11. m J Med Genet 1993; 45:

6 618 ritish Journal of Plastic Surgery 9. Morrow, Goldberg R, Carlson C, et al. Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome. m J Hum Genet 1995; 56: Shprintzen RJ, Siegel-Sadewitz VL, mato J, Goldberg R. Retrospective diagnoses of previously missed syndromic disorders among 1000 patients with cleft lip, cleft palate, or both. irth Defects 1985; 21: Williams M, Shprintzen RJ, Goldberg R. Male-to-male transmission of the velo-cardio-facial syndrome: a case report and review of 60 cases. J Craniofac Genet Dev iol 1985; 5: Glander KII, Cisneros GJ. Comparison of the craniofacial characteristics of two syndromes associated with the Pierre Robin sequence. Cleft Palate Craniofac J 1992; 29: rvystas M, Shprintzen RJ. Craniofacial morphology in the velo-cardio-facial syndrome. J Craniofac Genet Dev iol 1984; 4: Witt PD, Marsh JL, Grames LM, Muntz HR, Gay WD. Management of the hypodynamic velopharynx. Cleft Palate Craniofac J 1995; 32: Osborn JM, Kelleher JC. survey of cleft lip and palate surgery taught in plastic surgery training programs. Cleft Palate J 1983; 20: rgamaso RV. Pharyngeal Flap Surgery for Velopharyngeal Insufficiency. Syracuse: Velo-Cardio-Facial Syndrome Educational Foundation: New York, Shprintzen RJ, ardach J. Cleft Palate Speech Management: a multidisciplinary approach. St Louis: Mosby Year ook Inc. 1995; p. 78, Marsh JL, Grames LM, Holtman. Intravelar veloplasty: a prospective study. Cleft Palate J 1989; 26: D ntonio LL, Muntz HR, Marsh JL, Grames LM, ackensto-marsh R. Practical application of flexible fiberoptic nasopharyngoscopy for evaluating velopharyngeal function. Plast Reconstr Surg 1988; 82: Skolnick ML, McCall GN. Velopharyngeal competence and incompetence following pharyngeal flap surgery: video-fluoroscopic study in multiple projections. Cleft Palate J 1972; 9: Skolnick ML, McCall GN. radiographic technique for demonstrating the causes of persistent nasality in patients with pharyngeal flaps. r J Plast Surg 1973; 26: Dingman RO, Grabb WC, loomer HH. Posterior pharyngeal flap: some anatomical considerations and an evaluation of patients. Transactions of the Third International Congress of Plastic Surgery 1963; 66: Witt PD, Marsh JL, Muntz HR, Grames LM, Watchmaker GP. cute obstructive sleep apnea as a complication of sphincter pharyngoplasty. Cleft Palate Craniofac J 1996; 33: Gorlin R, et al. Velocardiofacial syndrome (Shprintzen syndrome, Sedlac ková syndrome). In: Gorlin RJ, Cohen MM Jr, Levin LS, eds. Syndromes of the Head and Neck. 3rd edn New York: Oxford University Press, 1990; Witt PD, D ntonio LL. Velopharyngeal insufficiency and secondary palatal management: a new look at an old problem. Clin Plast Surg 1993; 20: Shprintzen RJ, Goldberg R, Young D, Wolford L. The velocardio-facial syndrome: a clinical and genetic analysis. Pediatrics 1981; 67: Finkelstein Y, Zohar Y, Nachmani, et al. The otolaryngologist and the patient with velocardiofacial syndrome. rch Otolaryngol Head Neck Surg 1993; 119: Williams M, Shprintzen RJ, Rakoff SJ. denoid hypoplasia in the velo-cardio-facial syndrome. J Craniofac Genet Dev iol 1987; 7: Witt PD, Marsh JL, Grames LM, Muntz HR. Revision of the failed sphincter pharyngoplasty: an outcome assessment. Plast Reconstr Surg 1995; 96: Witt PD, Myckatyn T, Marsh JL. Salvaging the failed pharyngoplasty: intervention outcome. Cleft Palate Craniofac J 1998; 35: The uthors Peter D. Witt MD, ssistant Professor of Surgery, Plastic and Reconstructive Daniel T. Cohen, Medical Student and Research ssistant Jeffrey L. Marsh MD, Professor of Surgery, Plastic and Reconstructive Surgery Department of Plastic and Reconstructive Surgery Lynn Marty Grames CCC-SLP, Speech Pathologist, Department of Therapy Services, Speech and Language Cleft Palate and Craniofacial Deformities Institute, St Louis Children s Hospital, Washington University School of Medicine, One Children s Place, St Louis, MO 63110, US. Correspondence to Peter D. Witt. Paper received 9 October ccepted 30 pril 1999, after revision.