Dificultades del habla e intervención logopédica en síndrome de moebiusuna revisión integrada

  1. Hurtado García, Paula Alejandra 1
  2. Peñalver García, Dolores María 1
  1. 1 Universidad de Murcia España
Revue:
International Journal of Developmental and Educational Psychology: INFAD. Revista de Psicología

ISSN: 0214-9877

Année de publication: 2023

Titre de la publication: ABOUT THE SOCIAL AND THE MENTAL HEALTH

Volumen: 1

Número: 1

Pages: 177-188

Type: Article

DOI: 10.17060/IJODAEP.2023.N1.V1.2503 DIALNET GOOGLE SCHOLAR lock_openAccès ouvert editor

D'autres publications dans: International Journal of Developmental and Educational Psychology: INFAD. Revista de Psicología

Objectifs de Développement Durable

Résumé

Moebius syndrome is a low-prevalence congenital disease characterized by facial paralysis due to involvement of cranial nerves VIand VII. This integrative review of theliteratureaimsto identifythe main orofacial, neurological and functional characteristics of Moebius syndrome, speech difficulties and the benefits that post-surgical speech therapy intervention may have on patients. Eleven studies were included. In 90% of them, various orofacial affections were observed that affect the articulation, feeding and facial expressiveness. Likewise, speech is altered, being in almost half of the cases unintelligible. Two of the works describe benefits with speech therapy. It is concluded that Moebius syndrome is characterized by orofacial alterations that affect swallowing, expression and speech. Post-surgical speech therapy intervention provides important benefits to patients, improving their quality of life. 

Références bibliographiques

  • Anderson, M., Elliott, E. J., & Zurynski, Y. A. (2013). Australian families living with rare disease: Experiences of diagnosis, health services use and needs for psychosocial support. Orphanet Journal of Rare Diseases, 8, 22. https://doi.org/10.1186/1750-1172-8-22
  • Bandim,J. M., Ventura, L. O., Miller, M. T., Almeida, H. C., & Costa, A. E. S. (2003a). Autism and Möbiussequence: An exploratory study of children in northeastern Brazil. Arquivos de Neuro-Psiquiatria, 61(2A), 181-185. https://doi.org/10.1590/S0004-282X2003000200004
  • Bandim,J. M., Ventura, L. O., Miller, M. T., Almeida, H. C., & Costa, A. E. S. (2003b). Autism and Möbiussequence: An exploratory study of children in northeastern Brazil. Arquivos de Neuro-Psiquiatria, 61, 181-185. https://doi.org/10.1590/S0004-282X2003000200004
  • Briegel, W. (2006). Neuropsychiatric findings of Möbius sequence – a review—Briegel—2006—- Wiley Online Library. Clinical Genetics, 70(2), 91-97. https://doi.org/doi.org/10.1111/j.1399-0004.2006.00649.x
  • Broussard, A. B., & Borazjani, J. G. (2008). The Faces of moebius syndrome: Recognition and Anticipatory Guidance. MCN: The American Journal of Maternal/Child Nursing, 33(5), 272-278. https://doi.org/10.1097/01.NMC.0000334892.45979.d5
  • Carey, J. (1992). Syndromes of the head and neck. American Journal of Medical Genetics, 42(1), 144. https://doi.org/doi.org/10.1002/ajmg.1320420133
  • Carta, A., Favilla, S., Calzetti, G., Casalini, M. C., Ferrari, P. F., Bianchi, B., Simonelli, M. B., Farci, R., Gandolfi, S., & Mora, P. (2021). The epidemiology of Moebius syndrome in Italy. Orphanet Journal of Rare Diseases, 16(1), 162. https://doi.org/10.1186/s13023-021-01808-2
  • Cronemberger, M., Castro Moreira, J., Brunoni, D., Mendoça, T., Alvarenga, E., Rizzo, A. M., & Diogo, S. M. (2001). Ocular and clinical manifestations of Möbius’ syndrome. 38(3), 156-162.
  • Cronemberger, M. F., Moreira, J. B. de C., Brunoni, D., Mendon, T. S., Alvarenga, E. H. de L., Rizzo, A. M. P. P., & Diogo, S. M. M. (2001). Ocular and Clinical Manifestations of Möbius’ Syndrome. Journal of Pediatric Ophthalmology & Strabismus, 38(3), 156-162. https://doi.org/10.3928/0191-3913-20010501-09
  • Cuestas, G., Quiroga, V., Zanetta, A., & Giménez, E. (2019). Manejo de la vía aérea en el neonato con síndrome de Moebius. Anales de Pediatría, 91(4), 264-267. https://doi.org/doi.org/10.1016/j.anpedi.2018.11.008
  • Dworkin-Valenti, J. P. (2020). Single-Subject Investigation: A Model Oral-Motor Treatment Design for Children with Moebius Syndrome. 2, 13.
  • Fairgray, E., & Miles, A. (2016). Enhancing surgical outcomes: The effects of speech therapy on a school-aged girl with Moebius Syndrome—ScienceDirect. International Journal of Pediatric Otorhinolaryngology, 90, 58-62. https://doi.org/doi.org/10.1016/j.ijporl.2016.08.031
  • Fu, L., Bundy, C., & Sagiq, S. A. (2011). Psychological distress in people with disfigurement from facial palsy. Eye, 25, 1322-1326. https://doi.org/doi.org/10.1038/eye.2011.158
  • Ghabrial, R., Versace, P., Kourt, G., Lipson, A., & Martin, F. (1998a). Möbius’ Syndrome: Features and Etiology. Journal of Pediatric Ophthalmology & Strabismus, 35(6), 304-311. https://doi.org/10.3928/0191-3913-19981101-04
  • Ghabrial, R., Versace, P., Kourt, G., Lipson, A., & Martin, F. (1998b). Möbius’ Syndrome: Features and Etiology. Journal of Pediatric Ophthalmology & Strabismus, 35(6), 304-311. https://doi.org/10.3928/0191-3913-19981101-04
  • Graf, W. D., & Shepard, T. H. (1997). Uterine Contraction in the Development of Möbius Syndrome. Journal of
  • Child Neurology, 12(3), 225-227. https://doi.org/doi.org/10.1177/088307389701200315
  • Guedes, Z. (2014). Möbius Syndrome: Misoprostol Use and Speech and Language Characteristics. International
  • Archives of Otorhinolaryngology, 18(03), 239-243. https://doi.org/10.1055/s-0033-1363466
  • Harii, K., Ohmori, K., Torii, S., & Harii, K. (1976). Free gracilis muscle transplantation, with microneurovascular anastomoses for the treatment of facial paralysis: A Preliminary Report. Plastic and Reconstructive Surgery, 57(2), 133-143.
  • Herrera, D. A., Ruge, N. O., Florez, M. M., Vargas, S. A., Ochoa-Escudero, M., & Castillo, M. (2019). Neuroimaging Findings in Moebius Sequence. AJNR. American Journal of Neuroradiology, 40(5), 862-865. https://doi.org/10.3174/ajnr.A6028
  • Kankirawatana, P., Tennison, M. B., D’Cruz, O., & Greenwood, R. S. (1993). Möbius syndrome in infant exposed to cocaine in utero. Pediatric Neurology, 9(1), 71-72. https://doi.org/10.1016/0887-8994(93)90016-6
  • Kuklík, M. (2000). Poland-Möbius syndrome and disruption spectrum affecting the face and extremities: A review paper and presentation of five cases. Acta Chirurgiae Plasticae, 42(3), 95-103.
  • Kumar, D. (1990). Moebius syndrome. Journal of Medical Genetics, 27(2), 122-126. https://doi.org/10.1136/jmg.27.2.122
  • Lopez-Valverde, G., Jarrin-Hernandez, E., Cruz-Gonzalez, F., & Mateos-Sanchez, E. (2013). Möbius syndrome: Surgical treatment for eyelid dysfunction. Case Reports in Ophthalmology, 4(3), 229-233. https://doi.org/10.1159/000356528
  • Meyerson, M. D., & Foushee, D. R. (1978). Speech, Language and Hearing in Moebius Syndrome: A Study of 22 Patients. Developmental Medicine & Child Neurology, 20(3), 357-365. https://doi.org/10.1111/j.1469-8749.1978.tb15225.x
  • Moreira, A. T. R., Teixeira, S., Ruthes, H. I., Miranda, A. B., & Guerra, D. R. (2001a). Síndrome de Moebius associada a artrogripose: Relato de caso e revisão da literatura. Arquivos Brasileiros de Oftalmologia, 64(6), 576-579. https://doi.org/10.1590/S0004-27492001000600015
  • Moreira, A. T. R., Teixeira, S., Ruthes, H. I., Miranda, A. B., & Guerra, D. R. (2001b). Síndrome de Moebius associada a artrogripose: Relato de caso e revisão da literatura. Arquivos Brasileiros de Oftalmologia, 64, 576-579. https://doi.org/10.1590/S0004-27492001000600015
  • Ortega, A. de O. L., Marques-Dias, M. J., Botti Rodrigues dos Santos, M. T., Castro, T., & Gallotini, M. (2013). Oral motor assessment in individuals with Moebius syndrome—Ortega—2014—- Wiley Online Library. Journal of Oral Pathology & Medicine, 43(2), 157-161. https://doi.org/doi.org/10.1111/jop.12107
  • Palisano, R. J., Almarsi, N., Chiarello, L. A., Orlin, M. N., Bagley, A., & Maggs, J. (2010). Family needs of parents of children and youth with cerebral palsy. Child: Care, Health and Development, 36(1), 85-92. https://doi.org/10.1111/j.1365-2214.2009.01030.x
  • Pamplona, M. del C., Ysunza, P. A., Telich-Tarriba, J., Chávez-Serna, E., Villate-Escobar, P., Sterling, M., & Cardenas-Mejia, A. (2020). Diagnosisand treatment ofspeech disordersin children with Moebiussyndrome. International Journal of Pediatric Otorhinolaryngology, 138, 110316. https://doi.org/10.1016/j.ijporl.2020.110316
  • Picciolini, O., Porro, M., Cattaneo, E., Castelletti, S., Masera, G., Mosca, F., & Bedeschi, M. F. (2016). Moebius syndrome: Clinical features, diagnosis, management and early intervention. Italian Journal of Pediatrics, 42(1), 56. https://doi.org/10.1186/s13052-016-0256-5
  • Puvabanditsin, S., Garrow, E., Augustin, G., Titapiwatanakul, R., & Kuniyoshi, K. M. (2005). Poland-Möbius syndrome and cocaine abuse: A relook at vascular etiology. Pediatric Neurology, 32(4), 285-287. https://doi.org/10.1016/j.pediatrneurol.2004.11.011
  • Renault, F., Flores-Guevara, R., Baudon, J. -J., Sergent, B., Charpillet, V., Denoyelle, F., Thierry, B., Amiel, T., & Gitiaux, C. (2019). Orofacial motor dysfunction in Moebius syndrome. Developmental Medicine & Child Neurology, 62(4), 521-527. https://doi.org/doi.org/10.1111/dmcn.14379
  • Ruge-Peña, N. O., Valencia, C., Cabrera, D., Aguirre, D. C., & Lopera, F. (2020). Moebius syndrome: Craniofacial clinical manifestations and their association with prenatal exposure to misoprostol. Laryngoscope Investigative Otolaryngology, 5(4), 727-733. https://doi.org/doi.org/10.1002/lio2.377
  • Ruge Peña, N. O., Valencia, C., Cabrera, D., Aguirre, D. C., & Lopera, F. (2020). Moebius syndrome: Craniofacial clinical manifestations and their association with prenatal exposure to misoprostol. Laryngoscope Investigative Otolaryngology, 5(4), 727-733. https://doi.org/10.1002/lio2.377
  • Santos Luz, G. dos, Silva, M. R. S. da, & De Montigny, F. (2016). Priority needs referred by families of rare disease patients. Texto & Contexto - Enfermagem, 25. https://doi.org/10.1590/0104-07072016000590015
  • Sjögreen, L., Andersson-Norinder, J., & Jacobsson, C. (2001). Development of speech, feeding, eating, and facial expression in Möbius sequence—ScienceDirect. International Journal of Pediatric Otorhinolaryngology, 60(3), 197-204. https://doi.org/10.1016/S0165-5876(01)00532-8
  • Sjögreen, L., Eklund, K., Nilsson, A., & Persson, C. (2015). Speech production, intelligibility and oromotor function in seven individuals with Möbius sequence. International Journal of Speech-Language Pathology, 17(6), 537-544. https://doi.org/doi.org/10.3109/17549507.2015.1016108
  • Solves Almela, J. A. (2018). Estudio sobre situación de necesidades sociosanitarias de las personas con enfermedades raras en España: Estudio ENSERio, datos 2016-2017. FEDER CREER.
  • Strömland, K., Sjögreen, L., Miller, M., Gillberg, C., Wentz, E., Johansson, M., Nylén, O., Danielsson, A., Jacobsson, C., Andersson, J., & Fernell, E. (2002). Möbius sequence—A Swedish multidiscipline study. European Journal of Paediatric Neurology, 6(1), 35-45. https://doi.org/10.1053/ejpn.2001.0540
  • Sugarman, G. I., & Stark, H. H. (1973). Möbius Syndrome with Poland’s Anomaly | Journal of Medical Genetics. Journal of Medical Genetics, 10(2), 192-196. https://doi.org/doi.org/10.1136/jmg.10.2.192
  • Tejada-Ortigosa, E. M., Flores-Rojas, K., Moreno-Quintana, L., Muñoz-Villanueva, M. C., Pérez-Navero, J. L., & Gil-Campos, M. (2019). Necesidades sanitarias y socioeducativas de niños con enfermedades raras de tipo metabólico y sus familias: Estudio cualitativo en un hospital de tercer nivel. Anales de Pediatría, 90(1), 42-50. https://doi.org/10.1016/j.anpedi.2018.03.003
  • Terzis, J., & Karypidis, D. (2010). Direct Tongue Neurotization: The Effect on Speech Intelligib... : Plastic and Reconstructive Surgery. Plastic and Reconstructive Surgery, 125(1), 150-160. https://doi.org/doi:10.1097/PRS.0b013e3181c59d60
  • Tomas-Roca, L., Tsaalbi-Shtylik, A., Jansen, J. G., Epstein, J. A., Altunoglu, U., Verzijl, H., Soria, L., van Beusekom, E., Roscioli, T., Iqbal, Z., Gilissen, C., Hoischen, A., de Brouwer, A. P. M., Erasmus, C., Schubert, D., Brunner, H., Pérez Aytés, A., Marin, F., & Van Bokhoven, H. (2015). De novo mutations in PLXND1 and REV3L cause Möbius syndrome. - Abstract—Europe PMC. Nature Communications, 6.https://europepmc.org/article/med/26068067
  • Ventura, L. O., Cruz, C. B. da, Almeida, H. C. de, Millar, M., Lira, A. F. C., & Antunes, D. L. (2007). Seqüência de Möbius: Resultados a longo prazo, da correção cirúrgica do estrabismo. Arquivos Brasileiros de Oftalmologia, 70, 195-199. https://doi.org/10.1590/S0004-27492007000200003
  • Verzijl, H. T. F. M., Es, N., Berger, H. J. C., Padberg, G. W., & Spaendonck, K. P. M. (2005). Cognitive evaluation in adult patients with Moebius syndrome. Journal of Neurology, 252(2), 202-207. https://doi.org/10.1007/s00415-005-0637-y
  • Verzijl, H. T. F. M., van der Zwaag, B., Cruysberg, J. R. M., & Padberg, G. W. (2003). Möbius syndrome redefined: A syndrome of rhombencephalic maldevelopment. Neurology, 61(3), 327-333. https://doi.org/10.1212/01.WNL.0000076484.91275.CD
  • Verzijl, H. T. F. M., van Es, N., Berger, H. J. C., Padberg, G. W., & van Spaendonck, K. P. M. (2005). Cognitive evaluation in adult patients with Möbius syndrome. Journal of Neurology, 252(2), 202-207. https://doi.org/10.1007/s00415-005-0637-y
  • Verzijl, H., van der Zwaag, B., Cruysberg, J., & Padberg, G. W. (2003). Möbius syndrome redefined: A syndrome of rhombencephalic maldevelopment. Neurology, 61(3), 327-333. https://doi.org/DOI:10.1212/01.WNL.0000076484.91275.CD
  • Vitásková, K., & Tabachová, J. (2017). The Evaluation of Orofacial Praxis as an Important Component of Differential Diagnosis in Symptomatic Speech Disorders – the Example of Moebius Syndrome and Autism Spectrum Disorders. Procedia - Social and Behavioral Sciences, 237, 1537-1543. https://doi.org/doi.org/10.1016/j.sbspro.2017.02.242.
  • Zuker, R., Goldberg, C., & Manktelow, R. (2000). Facial Animation in Children with Möbius Syndrome after Segmental Gracilis Muscle Transplant. Plastic and Reconstructive Surgery, 106(1), 1-8.
La source de données: Dialnet