Eating dysfunction associated with oromandibular dystonia: clinical characteristics and treatment considerations

BACKGROUND: In oromandibular dystonia (OMD) abnormal repetitive contractions of masticatory, facial, and lingual muscles as well as the presence of orobuccolingual (OBL) dyskinesias may interfere with the appropriate performance of tasks such as chewing and swallowing leading to significant dysphagia and weight loss. We present here the clinical characteristics and treatment variables of a series of patients that developed an OMD-associated eating dysfunction. METHODS: We present a series of patients diagnosed and followed-up at the Movement Disorders Clinic of the Department of Neurology of University of Miami, Miller School of Medicine over a 10-year period. Patients were treated with botulinum toxin injections according to standard methods. RESULTS: Five out of 32 (15.6%) OMD patients experienced symptoms of eating dysfunction associated with OMD. Significant weight loss was reported in 3/5 patients (ranged for 13–15 lbs). Two patients regained the lost weight after treatment and one was lost to follow-up. Tetrabenazine in combination with other antidystonic medication and/or botulinum toxin injections provided substantial benefit to the patients with dysphagia caused by OMD. CONCLUSION: Dystonic eating dysfunction may occasionally complicate OMD leading to weight loss. Its adequate characterization at the time of history taking and clinical examination should be part of outcome measurements of the anti-dystonic treatment in clinical practice

In Search of the Optimal Surgical Treatment for Velopharyngeal Dysfunction in 22q11.2 Deletion Syndrome: A Systematic Review

<div><h3>Background</h3><p>Patients with the 22q11.2 deletion syndrome (22qDS) and velopharyngeal dysfunction (VPD) tend to have residual VPD following surgery. This systematic review seeks to determine whether a particular surgical procedure results in superior speech outcome or less morbidity.</p> <h3>Methodology/ Principal Findings</h3><p>A combined computerized and hand-search yielded 70 studies, of which 27 were deemed relevant for this review, reporting on a total of 525 patients with 22qDS and VPD undergoing surgery for VPD. All studies were levels 2c or 4 evidence. The methodological quality of these studies was assessed using criteria based on the Cochrane Collaboration's tool for assessing risk of bias. Heterogeneous groups of patients were reported on in the studies. The surgical procedure was often tailored to findings on preoperative imaging. Overall, 50% of patients attained normal resonance, 48% attained normal nasal emissions scores, and 83% had understandable speech postoperatively. However, 5% became hyponasal, 1% had obstructive sleep apnea (OSA), and 17% required further surgery. There were no significant differences in speech outcome between patients who underwent a fat injection, Furlow or intravelar veloplasty, pharyngeal flap pharyngoplasty, Honig pharyngoplasty, or sphincter pharyngoplasty or Hynes procedures. There was a trend that a lower percentage of patients attained normal resonance after a fat injection or palatoplasty than after the more obstructive pharyngoplasties (11–18% versus 44–62%, p = 0.08). Only patients who underwent pharyngeal flaps or sphincter pharyngoplasties incurred OSA, yet this was not statistically significantly more often than after other procedures (p = 0.25). More patients who underwent a palatoplasty needed further surgery than those who underwent a pharyngoplasty (50% versus 7–13%, p = 0.03).</p> <h3>Conclusions/ Significance</h3><p>In the heterogeneous group of patients with 22qDS and VPD, a grade C recommendation can be made to minimize the morbidity of further surgery by choosing to perform a pharyngoplasty directly instead of only a palatoplasty.</p> </div

Comparação dos resultados da fala após as cirurgias de retalho faríngeo e veloplastia intravelar para correção da disfunção velofaríngea Comparison of speech results following pharyngeal flap and intravelar veloplasty for correction of velopharyngeal dysfunction

OBJETIVO: Comparar a fala e o funcionamento velofaríngeo após as técnicas de retalho faríngeo e veloplastia intravelar para a correção da disfunção velofaríngea residual. MÉTODOS: Foi realizado um estudo retrospectivo com análise de 148 casos com fissura labiopalatina operada e submetidos à correção cirúrgica da disfunção velofaríngea, sendo 77 com retalho faríngeo (média de idade: 20,4 anos) e 71 com veloplastia intravelar (média de idade: 16,2 anos). Foram avaliadas a ressonância da fala, a presença de articulações compensatórias, a emissão de ar nasal e a extensão da falha no fechamento velofaríngeo antes e após as duas técnicas. RESULTADOS: Dos 77 casos submetidos ao retalho faríngeo 64 (83%) apresentaram melhora na ressonância, enquanto que dos 71 casos com veloplastia intravelar 48 (68%) revelaram melhora, havendo diferença significativa entre os grupos. No grupo com retalho faríngeo, seis (8%) apresentaram melhora na articulação compensatória e dois (3%) no grupo veloplastia intravelar, enquanto a emissão de ar nasal melhorou em 17 (22%) casos com retalho faríngeo e em 18 (26%) com veloplastia intravelar. Não houve diferença entre os grupos quanto à articulação compensatória e emissão de ar nasal. A falha no fechamento velofaríngeo reduziu em 75 (96%) casos com retalho faríngeo e 46 (66%) com a veloplastia intravelar, havendo diferença entre os grupos. CONCLUSÃO: A técnica de retalho faríngeo mostrou-se mais efetiva na melhora da ressonância e no fechamento velofaríngeo quando comparada à veloplastia intravelar.<br>PURPOSE: To compare speech and velopharyngeal function after pharyngeal flap and intravelar veloplasty techniques for the correction of residual velopharyngeal dysfunction. METHODS: It was carried out a retrospective study analyzing 148 cases of cleft lip and palate operated and submitted to velopharyngeal dysfunction surgical correction, 77 with pharyngeal flap (mean age: 20.4 years) and 71 with intravelar veloplasty (mean age: 16.2 years). Speech resonance, presence of compensatory articulations, nasal air emission, and velopharyngeal gap size were assessed before and after the use of both techniques. RESULTS: Sixty four (83%) of the 77 cases submitted to pharyngeal flap presented resonance improvement, while 48 (68%) of the 71 cases with intravelar veloplasty improved, with significant difference between the groups. Six (8%) subjects with pharyngeal flap, and two (3%) with intravelar veloplasty showed improvement in compensatory articulations, while nasal air emission improved in 17 (22%) cases with pharyngeal flap, and 18 (26%) with intravelar veloplasty. No significant differences were found between the groups regarding compensatory articulations and nasal air emission. The velopharyngeal gap size reduced in 75 (96%) cases with pharyngeal flap, and 46 (66%) with intravelar veloplasty, with a significant difference between the groups. CONCLUSION: The pharyngeal flap technique was more effective in improving resonance and velopharyngeal closure, when compared to intravelar veloplasty

Correlação entre fechamento velofaríngeo e dimensões nasofaríngeas após cirurgia de retalho faríngeo avaliados por meio da técnica fluxo-pressão Correlation between velopharyngeal closure and nasopharyngeal dimensions after pharyngeal flap surgery assessed by pressure-flow technique

OBJETIVO: Verificar se a área dos orifícios velofaríngeos obtida após o retalho faríngeo (RF) durante a respiração de repouso (AVFr) é um indicador do grau de fechamento velofaríngeo durante a fala (AVFf). MÉTODOS: Os sujeitos foram 62 pacientes com fissura de palato, associada ou não à fissura de lábio, de ambos os gêneros, com idades entre seis e 32 anos, submetidos ao RF há, pelo menos, 12 meses. AVFr e AVFf foram determinadas por meio da técnica fluxo-pressão. Valores de AVFr inferiores a 0,500 cm² foram considerados subnormais. A AVFf foi classificada como adequada (0-0,049 cm²), marginal (0,050-0,199 cm²) ou inadequada (>0,200 cm²). A associação entre os valores de AVFr e AVFf pós-cirúrgicos foi analisada por meio de um modelo de regressão logística. RESULTADOS: Após o RF, 92% dos pacientes com valores de AVFr subnormais (<0,500 cm²) apresentaram fechamento velofaríngeo adequado. A proporção de pacientes com valores de AVFr normais (>0,500 cm²) e fechamento velofaríngeo adequado foi menor, porém ainda expressiva (55%). Não houve associação estatisticamente significante entre as duas variáveis. CONCLUSÃO: A maioria dos pacientes com retalho largo apresentou fechamento velofaríngeo adequado durante a fala. Entretanto, os resultados mostraram que as dimensões dos orifícios velofaríngeos durante a respiração de repouso não podem predizer a eficácia do retalho faríngeo para a fala.<br>PURPOSE: To investigate whether postoperative velopharyngeal orifice area during nasal breathing at rest (VPAb) can predict velopharyngeal closure during speech (VPAs). METHODS: The subjects were 62 patients with cleft palate, associated or not with cleft lip, of both genders, with ages between six and 32 years, who underwent pharyngeal flap surgery (PFS) at least 12 months before the evaluation performed for this study. VPAb and VPAs were assessed using the pressure-flow technique. VPAb values below 0.500cm² were considered subnormal. VPAs was categorized as adequate (0-0.049cm²), borderline (0.050-0.199cm²) or inadequate (>0.200cm²). A logistic regression model analyzed the association between VPAb and VPAs. RESULTS: After PFS, 92% of the patients with subnormal VPAb values (<0.500cm²) presented adequate velopharyngeal closure. The percentage of patients with normal VPAb values (>0.500cm²) who also presented adequate closure was smaller, but still significant (55%). The association between VPAb and VPAs values was not statistically significant. CONCLUSION: Most patients with large flaps presented adequate velopharyngeal closure during speech. However, the findings show that the velopharyngeal orifice area during breathing is not a good predictor of the effectiveness of the pharyngeal flap for speech