Arch-Tirado E, Arellano-Cabrera L, Gutiérrez-Farfán I, Aguilera-Tello SA, Collado-Corona MÁ, Lino-González AL

Language: Spanish
References: 16
Page: 22-27
PDF size: 265.50 Kb.

ABSTRACT

Background: Waardenburg syndrome is a rare genetic disease and one of its most significant clinical findings is neurosensory hearing loss. Objective: To describe the neurodevelopment evolution of dizygotic twins with Waardenburg syndrome and sensorineural hearing loss. Methods: Descriptive study, involved dizygotic twins of 4 years 6 months, with Waardenburg syndrome and bilateral sensorineural hearing loss. Information was collected related to family, perinatal, previous evaluations, treatment and evolution of patients. For the quantitative results obtained in the Portage Guide for preschool education, a table was constructed and Χ² was calculated with a confidence level for p ‹ 0.05. Results: The female twin showed better evolution in her neurodevelopment. Conclusions: Studying populations of twins provides valuable information by promoting greater control of environmental, educational and attentional variables.

REFERENCES

1. Hazan F, Ozturk AT, Adibelli H, Unal N, Tukun A. A novel missense mutation of the paired box 3 gene in a Turkish family with Waardenburg syndrome type 1. Mol Vis. 2013; 19: 196-202.

2. Vichare N, Bhargava N. Waardenburg syndrome: A rare case with bilateral congenital cataract: An unusual entity. Med J Armed Forces India. 2013; 69: 172-174.

3. Kumar S, Rao K. Waardenburg syndrome: a rare genetic disorder, a report of two cases. Indian J of Hum Genet. 2012; 18: 254-255.

4. Akal A, Göncü T, Boyaci N, Yılmaz ÖF. Anisometropic amblyopia in a case of type 2 Waardenburg syndrome. BMJ Case Rep. 2013; 2013: bcr2013201140.

5. Madiha M, Khaled K. Waardenburg syndrome. Pan Afr Med J. 2015; 20: 427.

6. Koyama H, Kashio A, Sakata A et al. The hearing outcomes of cochlear implantation in Waardenburg syndrome. Biomed Res Int. 2016; 2016: 2854736.

7. de Sousa Andrade SM, Monteiro AR, Martins JH, Alves MC, Santos Silva LF, Quadros JM et al. Cochlear implant rehabilitation outcomes in Waardenburg syndrome children. Int J Pediatr Otorhinolaryngol. 2012; 76: 1375-1378.

8. Chen Y, Yang F, Zheng H, Zhou J, Zhu G, Hu P et al. Clinical and genetic investigation of families with type II Waardenburg syndrome. Mol Med Rep. 2016; 13: 1983-1988.

9. Magalhães AT, Samuel PA, Goffi-Gomez MV, Tsuji RK, Brito R, Bento RF. Audiological outcomes of cochlear implantation in Waardenburg syndrome. Int Arch Otorhinolaryngol. 2013; 17: 285-290.

10. Köylü MT, Gökçe G, Sobaci G, Oysul FG, Akincioğlu D. Ophthalmic pathologies in female subjects with bilateral congenital sensorineural hearing loss. Turk J Med Sci. 2016; 46: 139-144.

11. Falzon K, Guerin M, Fulcher T, Viani L. Ophthalmological screening of a paediatric cochlear implant population: a retrospective analysis and 12-year follow-up. Eye (Lond). 2010; 24: 1031-1036.

12. Ruggirello C, Mayer C. Language development in a hearing and a deaf twin with simultaneous bilateral cochlear implants. J Deaf Stud Deaf Educ. 2010; 15: 274-286.

13. Parra L, García AA, Ortiz S, Pérez D, Nájera J, Basurto NE et al. Las diferencias anatómicas cerebrales que implican diferencias funcionales (1a. de dos partes). Rev Fac Med UNAM. 2009; 52: 177-181.

14. Liu F, Vidarsson L, Winter JD, Tran H, Kassner A. Sex differences in the human corpus callosum microstructure: a combined T2 myelin-water and diffusion tensor magnetic resonance imaging study. Brain Res. 2010; 1343: 37-45.

15. Brunet O, Lezine I. El desarrollo psicológico de la primera infancia. Madrid: Pablo del Río; 1980.

16. Bluma S, Shearer M, Frohman A, Hilliard J. Guía Portage de educación preescolar. Wisconsin, EUA: Cooperative Educational Service Agency; 1978.