Syndrome of „Stone wall face“- Moebius syndrome in the System ofcomprehensive care
Authors:
Mgr. Bc. Tabachová Mironova Jana 1; doc. Mgr. Vitásková Kateřina, Ph.D. 2
Authors place of work:
Ústav speciálněpedagogických studií, Pedagogická fakulta, Univerzita Palackého v Olomouci, ambulance klinické logopedky Mgr. Jitky Souškové Doleželové, Nový Jičín
1; Ústav speciálněpedagogických studií, Pedagogická fakulta, Univerzita Palackého v Olomouci
2
Published in the journal:
Listy klinické logopedie 2017; 1(2): 45-51
Category:
Main topic
Summary
Möbius syndrome is a very rare congenital developmental disorder which primarily affects the muscles controlling facial expression and eye movements. The exact probability of occurance of this syndrome is unknown. Some experts suggest that the percentage of individuals born with it is between 0,0002% and 0,002%. Because of the low prevalence, the syndrome is not well known among the general or professional public and is therefore often diagnosed at later age. The aim of the article is to familiarize the public with the issues regarding Möbius syndrome from a terminology, etiology and especially symptomatology perspective. The diagnostic process and the variety of different therapeutic approaches can be seen in the case report of a child with Möbius syndrome below.
Keywords:
Möbius syndrome, facial palsy, rare diseases, childhood dysphagia, case report
Zdroje
1. ABBOTT, M. 1998. My Face. [brožura]
2. ALLEN, R., O’BRIEN, B. 2009. Uses of Misoprostol in Obstetrics and Gynecology. In: Reviews in Obstetrics and Gynecology. 2 (3), p. 159-168.
3. ARVEDSON, J., BRODSKY, L. 2002. Pediatric swallowing and feeding: assessment and management. 2nd ed. Albany, NY: Delmar Publishers, 644 p. ISBN 07-693-0076-6.
4. BENEŠOVÁ, R. Hlavové nervy. In: Střední zdravotnická a Vyšší odborná škola zdravotnická Mladá Boleslav [online]. 2009 [cit. 2014-04-12]. Dostupné z: www.szsmb.cz
5. BOGART, K., MATSUMOTO, D. 2010. Living With Moebius Syndrome: Adjustment, Social Competence, and Satisfaction With Life. Cleft Palate-Craniofacial Journal. 2(42), 134-142. DOI: 10.1597/08-257.1.
6. BRIEGEL, W. 2006. Neuropsychiatric findings of Möbius sequence: a review. Clin Genet. 70. p. 91-97.
7. COLE, J.; SPALDING, H. 2009. The invisible smile: living without facial expression. New York: Oxford University Press, IX, 233 p. ISBN 01-985-6639-5.
8. ČIHÁK, R. 2004. Anatomie 3. 2., upr. a dopl. vyd. Praha: Grada, ISBN 80-247-1132- X.
9. ENDERBY, P. 2009. Möbius Syndrome. In: MCNEIL, Malcolm Ray. Clinical management of sensorimotor speech disorders. 2nd ed. New York: Thieme, xvi, p 342-343. ISBN 978-158-8905-147.
10. GOLDBERG, C., DELORIE, C., ZUCKER, R., MANKTELOW, R. 2003 The Effects of Gracilis Muscle Transplantation on Speech in Children With Moebius Syndrome. Journal of Craniofacial Surgery. 14(5), 687-690.
11. HAGEMAN, C. 2009. Flaccid Dysarthria. In: MCNEIL, Malcolm Ray. Clinical management of sensorimotor speech disorders. 2nd ed. New York: Thieme, XVI, p 116-129. ISBN 978-158-8905-147.
12. KRÁL, M. 2012. Neurologie pro speciální pedagogy. 1. vyd. Olomouc: Univerzita Palackého v Olomouci, 211 s. ISBN 978-80-244-3244-1.
13. KUKLIK, M. 2000. Poland-Mobius syndrome and disruption spektrum affecting the face and extremities; a reviewpaper and presentation office cases. Acta Chir Plast. 42. p. 95-103.
14. LOVE, R.; WEBB, W. 2009. Mozek a řeč: neurologie nejen pro logopedy. Vyd. 1. Praha: Portál, 372 s. ISBN 978-80-7367-464-9.
15. MENINGAUD, J., PITAK-ARNNOP, P., CHIKHANI, L., BERTRAND, J. 2006. Drooling of saliva: A review of the etiology and management options. Oral Surgery Oral Medicine Oral Pathology Oral Radiology. 101(1), 48-57. DOI: dx.doi.org
16. Moebius syndrome. In: Genetics Home Reference [online]. 2016 [cit. 2017-10-07]. Dostupné z: ghr.nlm.nih.gov
17. Moebius syndrome. In: Johns Hopkins Medicine [online]. Baltimore, 2015 [cit. 2017-10-07]. Dostupné z: www.hopkinsmedicine.org, MoebiusSyndrome
18. MULLIKEN, J. Moebius Syndrome. In: National Organization for Rare Disorders [online]. 2013 [cit. 2015-10-17]. Dostupné z: rarediseases.org
19. PALMER, Ch.; Mobuis Syndrome. In: Medscape [online]. 2016 [cit. 2016-10-17]. Dostupné z: emedicine.medscape.com
20. PASTUSZAK, A., SCHÜLER, L., SPECK-MARTINS, E. et al. 1998. Use of Misoprostol during Pregnancy and Möbius‘ Syndrome in Infants. The New England Journal of Medicine. (338), 1881-1885. DOI: 10.1056/NEJM199806253382604
21. PFEIFFER, J. 2007. Neurologie v rehabilitaci: pro studium a praxi. 1. vyd. Grada, 350 s. ISBN 978-802-4711-355.
22. REDETT, R.; HOPKINS, J. 2006. A guide to understanding moebius syndrome. Dallas: Children‘s Craniofacial Association.
23. ROSELFELD-JOHNSON, S. Oral Placement Therapy To Improve Speech Clarity and Feeding Skills. In:Down Syndrome info [online]. 2013 [cit. 2014-04-19]. Dostupné z: downsyndromeinfo.org
24. ROSENFELD-JOHNSON, S. Improving feeding safety and speech clarity in clients with moebius syndrome. In: Moebius Syndrome Foundation Administration [online]. 1999 [cit. 30. 12. 2012]. Dostupné z: www.moebiussyndrome.com
25. SCARPELLI, A., VERTCHENKO, T., RESENDE, V., CASTILHO, L., PAIVA, S., PORDEUS, I. 2008. Möbius Syndrome: A Case With Oral Involvement. Cleft Palate-Craniofacial Journal. vol 45(3), 319-324. DOI: 10.1597/07-084. ISBN 10.1597/07-084. Dostupné také z: www.cpcjournal.org
26. SHASHIKIRAN, N., SUBBA REDDY V., PATIL R. 2004. Moebius Syndrome A Case Report. In: Soc Ped Prev Dent. Indian, s. 96-99. ISSN 0970-4388.
27. SJÖGREEN, L., ANDERSSON-NORINDER, J., JACOBSSON, C. 2001. Development of speech, feeding, eating, and facial expression in Möbius sequence. International Journal of Pediatric Otorinolaryngology. 3(60), 197-204. DOI: 10.1016/S0165-5876(01)00532-8.
28. Supplemental Nursing System: Instruction Manual. In: Medela [online]. 2013 [cit. 2014-03-18]. Dostupné z: www.medelabreastfeedingus.com
29. Surgery. In: Smile Surgery [online]. 2014 [cit. 2014-04-14]. Dostupné z: smile-surgery.com
30. ŠLAPAL, R. 2002. Vybrané kapitoly z dětské neurologie pro speciální pedagogy. Brno: Paido - edice pedagogické literatury, 35 s. ISBN 80-731-5017-4
31. TABACHOVÁ, J. 2014. Problematika Möbiova syndromu. Olomouc. Diplomová práce. Univerzita Palackého. Vedoucí práce Kateřina Vitásková.
32. The Special Needs Feeder: Instruction Manual. In: Medela [online]. 2006 [cit. 2014-03-18]. Dostupné z: www.medelabreastfeedingus.com
33. VERZIJL, HT., van der ZWAAG, B., CRUYSBERG, JR. et. al. 2003. Mobius syndrome redefined: a syndrome of rhombecephalic maldevelopment. Neurology. 61. p. 327-333.
34. VITÁSKOVÁ, K., ČERVINKOVÁ, H., DZIDOVÁ, L., HLAVINKOVÁ, A., KOPECKÁ, B., KUČERA, P., MÁLKOVÁ, M., MLČÁKOVÁ, R., ŠEBKOVÁ, L., TABACHOVÁ, J. 2015. Vybrané odchylky a narušení komunikační schopnosti se zaměřením na specifika logopedické a surdopedické diagnostiky a intervence. Olomouc: Univerzita Palackého. 204 s. ISBN 978-80-244-4908-1.
35. What is Finger-Feeding?. In: Supporting successful breastfeeding [online]. 2009 [cit. 2014-03-18]. Dostupné z: www.fingerfeeder.com
36. ZUKER, R.; MANKTELOW, R. Moebius Syndrome. In: Smile Surgery [online]. 2014 [cit. 2014-04-14]. Dostupné z: smile-surgery.com
Štítky
Clinical speech therapy General practitioner for children and adolescentsČlánok vyšiel v časopise
Clinical speech therapy (Listy klinické logopedie)
2017 Číslo 2
- What Effect Can Be Expected from Limosilactobacillus reuteri in Mucositis and Peri-Implantitis?
- Hope Awakens with Early Diagnosis of Parkinson's Disease Based on Skin Odor
- Deep stimulation of the globus pallidus improved clinical symptoms in a patient with refractory parkinsonism and genetic mutation
- The Importance of Limosilactobacillus reuteri in Administration to Diabetics with Gingivitis
Najčítanejšie v tomto čísle
- Developmental anomalies in the neck
- Pediatric Dysphagia
- Muscle tension changes of orofacial organs in early childhood
- Syndrome of „Stone wall face“- Moebius syndrome in the System ofcomprehensive care