Subscribe to RSS
DOI: 10.1055/s-0039-1694054
A Prospective Evaluation of Swallowing and Speech in Patients with Neurofibromatosis Type 2[*]
Funding Sources This study was supported by the Intramural Research Programs of the National Institute of Neurological Diseases and Stroke, the National Institute for Deafness and Communication Disorders, and the National Institutes of Health Clinical Center, Bethesda, Maryland, United States.Abstract
Objective Neurofibromatosis type 2 (NF2) patients report that swallowing and speech problems significantly affect their quality of life, but the etiology of these phenomena is poorly understood. Swallowing and speech deficits may arise due to the neuropathy of involved nerves, due to posterior fossa tumor growth, or as iatrogenic effects from neurosurgical procedures to remove these tumors. This study aims to identify the natural history of swallowing and speech deficits in an NF2 cohort and to characterize the factors that may lead to those deficits.
Methods Subjects (n = 168) were enrolled in a prospective, longitudinal study of NF2 with yearly imaging and clinical exams. The patients completed a self-reported questionnaire that included responses regarding subjective swallowing and speech dysfunction. A formal speech-language pathology evaluation and modified barium swallow (MBS) study (reported as American Speech-Language Hearing Association [ASHA] swallowing independency score from 1 through 7) was obtained when a speech/swallowing deficit was reported on the questionnaire.
Results Of the 168 enrolled subjects, 55 (33%, median age = 31 years) reported subjective speech and/or swallowing deficits. These patients underwent one (n = 37) or multiple (n = 18) MBS studies during 44.8 ± 10.4 months follow-up. During MBS, a majority demonstrated near-normal swallowing (ASHA score >6, 82%), and no evidence of aspiration (aspiration/laryngeal penetration score = 1, 96%). Prior to initial MBS consultation, 38 (69%) patients had undergone relevant neurosurgical procedures. In those with recent (<1 week) posterior fossa surgery (n = 12), 2 (17%) patients had severe dysphagia and high aspiration risk on postoperative MBS. Both of these patients recovered to functionally independent swallowing status. Unilateral (n = 10) or bilateral (n = 6) tongue deficits unrelated to previous history suggestive of hypoglossal nerve injury were detected on clinical examination. There was a correlation between the presence of dysarthria and tongue deficits and tumors associated with the hypoglossal canal noted on imaging.
Conclusion A large proportion of patients with NF2 report speech and swallow deficits that are not evident on objective measurements. We also found hypoglossal neuropathy unrelated to prior surgical interventions. Our findings suggest that swallowing and speech problems in NF2 are associated with lower cranial nerve neuropathy, some due to compressive effects of posterior fossa tumors. Adaptation over the course of the disease allows for the compensation of these deficits and subsequent normal findings on objective testing.
Disclosure
None.
* This article is in the public domain under U.S. Law.
** These authors contributed equally to this work.
Publication History
Received: 17 January 2019
Accepted: 21 May 2019
Article published online:
18 September 2019
© 2019. Thieme. All rights reserved.
Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany
-
References
- 1 Evans DGR. Neurofibromatosis type 2 (NF2): a clinical and molecular review. Orphanet J Rare Dis 2009; 4: 16
- 2 Evans GR, Lloyd SK, Ramsden RT. Neurofibromatosis type 2. Adv Otorhinolaryngol 2011; 70: 91-98
- 3 Hexter A, Jones A, Joe H. et al; English Specialist NF2 Research Group. Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1192 patients. J Med Genet 2015; 52 (10) 699-705
- 4 Neary WJ, Hillier VF, Flute T, Stephens D, Ramsden RT, Evans DGR. Use of a closed set questionnaire to measure primary and secondary effects of neurofibromatosis type 2. J Laryngol Otol 2010; 124 (07) 720-728
- 5 Hagel C, Lindenau M, Lamszus K, Kluwe L, Stavrou D, Mautner VF. Polyneuropathy in neurofibromatosis 2: clinical findings, molecular genetics and neuropathological alterations in sural nerve biopsy specimens. Acta Neuropathol 2002; 104 (02) 179-187
- 6 Sperfeld AD, Hein C, Schröder JM, Ludolph AC, Hanemann CO. Occurrence and characterization of peripheral nerve involvement in neurofibromatosis type 2. Brain 2002; 125 (Pt 5): 996-1004
- 7 Rajendran S, Solomon B, Kim HJ. et al. Natural history of speech and swallowing function in neurofibromatosis 2 includes hypoglossal dysfunction. J Neurol Surg B Skull Base 2017; 78: S1-S156
- 8 Best SR, Ahn J, Langmead S. et al. Voice and swallowing dysfunction in neurofibromatosis 2. Otolaryngol Head Neck Surg 2018; 158 (03) 505-510
- 9 Asthagiri AR, Parry DM, Butman JA. et al. Neurofibromatosis type 2. Lancet 2009; 373: 1974-1986
- 10 Dirks MS, Butman JA, Kim HJ. et al. Long-term natural history of neurofibromatosis type 2-associated intracranial tumors. J Neurosurg 2012; 117: 109-117
- 11 Evans DG. Neurofibromatosis type 2 (NF2): a clinical and molecular review. Orphanet J Rare Dis 2009; 4: 16
- 12 House JW, Lin J, Friedman RA, Cullen RD. Translabyrinthine approach. In: Otologic Surgery. Philadephia, PA: Elsevier Inc.; 2010: 591-602
- 13 Ojemann RG. Retrosigmoid approach to acoustic neuroma (vestibular schwannoma). Neurosurgery 2001; 48 (03) 553-558
- 14 Tanriover N, Sanus GZ, Ulu MO. et al. Middle fossa approach: microsurgical anatomy and surgical technique from the neurosurgical perspective. Surg Neurol 2009; 71 (05) 586-596 , discussion 596
- 15 Veronezi RJ, Fernandes YB, Borges G, Ramina R. Long-term facial nerve clinical evaluation following vestibular schwannoma surgery. Arq Neuropsiquiatr 2008; 66 (2A): 194-198
- 16 Lee WH, Oh BM, Seo HG. et al. One-year outcome of postoperative swallowing impairment in pediatric patients with posterior fossa brain tumor. J Neurooncol 2016; 127 (01) 73-81
- 17 Morgan AT, Sell D, Ryan M, Raynsford E, Hayward R. Pre and post-surgical dysphagia outcome associated with posterior fossa tumour in children. J Neurooncol 2008; 87 (03) 347-354
- 18 Newman LA, Boop FA, Sanford RA, Thompson JW, Temple CK, Duntsch CD. Postoperative swallowing function after posterior fossa tumor resection in pediatric patients. Childs Nerv Syst 2006; 22 (10) 1296-1300
- 19 Schooling TL. Lessons from the National Outcomes Measurement System (NOMS). Semin Speech Lang 2003; 24 (03) 245-256
- 20 Rosenbek JC, Robbins JA, Roecker EB, Coyle JL, Wood JL. A penetration-aspiration scale. Dysphagia 1996; 11 (02) 93-98
- 21 Quintana LM. Dysphagia--a complicated complication of posterior fossa pathologies. World Neurosurg 2014; 82 (05) 623-624
- 22 Wadhwa R, Toms J, Chittiboina P. et al. Dysphagia following posterior fossa surgery in adults. World Neurosurg 2014; 82 (05) 822-827
- 23 Ram Z, Grossman R. Dysphagia as a complication of posterior fossa surgery in adults. World Neurosurg 2014; 82 (05) 625-626
- 24 Nunes F, MacCollin M. Neurofibromatosis 2 in the pediatric population. J Child Neurol 2003; 18 (10) 718-724
- 25 Pandey RK, Garg A, Singh D. Neurofibromatosis type-2: a neurocutaneous syndrome with constellation of multiple CNS tumors. Med Case Reports 2016; 2: 1-3