Genetic evaluation and counseling in the context of early hearing detection and intervention

Seminars in Hearing

Volumn 27, Issue 3, 2006, Pages 205-212

  Pandya, Arti ^a   Arnos, Kathleen S ^b  

^a VIRGINIA COMMONWEALTH UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b GALLAUDET UNIVERSITY   (United States)

Author keywords

Clinical evaluation; Genetic counseling; Molecular testing

Indexed keywords

AUDIOLOGIST; AUDITORY SCREENING; BACTERIAL MENINGITIS; CLINICAL FEATURE; CLINICAL PRACTICE; CONGENITAL CYTOMEGALOVIRUS INFECTION; CONGENITAL INFECTION; CYTOMEGALOVIRUS INFECTION; DISEASE ASSOCIATION; EARLY DIAGNOSIS; ENVIRONMENTAL FACTOR; EVALUATION; GENE; GENE IDENTIFICATION; GENE MUTATION; GENETIC COUNSELING; GJB2 GENE; GJB6 GENE; HEARING LOSS; HEREDITY; HUMAN; NEWBORN SCREENING; PERCEPTION DEAFNESS; PREMATURITY; REVIEW; RUBELLA; SENSORY DYSFUNCTION; SLC26A4 GENE; SYSTEMIC DISEASE;

EID: 33746618343     PISSN: 07340451     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2006-947287     Document Type: Review

References (33)

1. Morton NE. Genetic epidemiology of hearing impairment. Ann NY Acad Sci 1991;630:16-31
2. White KR. The current status of EHDI programs in the United States. Ment Retard Dev Disabil Res Rev 2003;9:79-88
3. National Center for Hearing Assessment and Management home page. Available at: http://www. infanthearing.org/. Accessed January 15, 2006
4. Downs M, Yoshinaga-Itano C. The efficacy of early identification and intervention for children with hearing impairment. Pediatr Clin North Am 1999;46:79-87
5. Yoshinaga-Itano C. Early intervention after universal neonatal hearing screening: impact on outcomes. Ment Retard Dev Disabil Res Rev 2003;9:252-266
6. Joint Committee on Infant Hearing. Year 2000 Position Statement: Principles and guidelines for early hearing detection and intervention programs. Pediatrics 2000;1061:798-817
7. Tekin M, Arnos KS, Pandya A. Advances in hereditary deafness. Lancet 2001;358:1082-1090
8. Nance WE. The genetics of deafness. Ment Retard Dev Disabil Res Rev 2003;9:109-119
9. Kennedy C, McCann D. Universal neonatal hearing screening moving from evidence to practice. Arch Dis Child Fetal Neonatal Ed 2004;89: F378-F383
10. Nance WE, Lim BG, Dodson KM. Importance of congenital cytomegalovirus infections as a cause for pre-lingual hearing loss. J Clin Virol 2006;35:221-225
11. Van Naarden K, Decoufle P, Caldwell K. Prevalence and characteristics of children with serious hearing impairment in metropolitan Atlanta, 1991-1993. Pediatrics 1999;103:570-575
12. Fortnum HM, Summerfield AQ, Marshall DH, Davis AC, Bamford JM. Prevalence of permanent childhood hearing impairment in the United Kingdom and implications for universal neonatal hearing screening: questionnaire based ascertainment study. BMJ 2001;323:536-540
13. Demmler GJ. Screening for congenital cytomegalovirus infection: a tapestry of controversies. J Pediatr 2005;146:162-164
14. Barbi M, Binda S, Caroppo S, Ambrosetti U, Corbetta C, Sergi P. A wider role for congenital cytomegalovirus infection in sensorineural hearing loss. Pediatr Infect Dis J 2003;22:39-42
15. Fowler KB, Boppana SB. Congenital cytomegalovirus (CMV) infection and hearing deficit. J Clin Virol 2006;35:226-231
16. Madeo AC, Pryor SP, Brewer C, et al. Pendred syndrome. Semin Hear 2006;27:160-170
17. Schultz JM. Waardenburg syndrome. Semin Hear 2006;27:171-181
18. Kimberling WJ, Lindenmuth A. The Usher syndromes. Semin Hear 2006;27:182-192
19. Denoyelle F, Marlin S, Weil D, et al. Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling. Lancet 1999;353: 1298-1303
20. Pandya A, Arnos KS, Xia XJ, et al. Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands. Genet Med 2003;5: 295-303
21. Azaiez H, Van CG, Smith RJH. Connexins and deafness: from molecules to disease. Semin Hear 2006;27:148-159
22. Estivill X, Govea N, Barcelo E, et al. Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides. Am J Hum Genet 1998;62:27-35
23. Schimmenti LA, Martinez A, Fox M, et al. Genetic testing as part of the early hearing detection and intervention (EHDI) process. Genet Med 2004; 6:521-525
24. Keats BJ, Savas S. Genetic heterogeneity in Usher syndrome. Am J Med Genet A 2004;130:13-16
25. Keats B, Berlin CI, Gregory P. Epidemiology of genetic hearing loss. Semin Hear 2006;27:136-147
26. ACMG. Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss. Genetic Evaluation of Congenital Hearing Loss Expert Panel. Genet Med 2002;4:162-171
27. Van Camp G, Smith R. Hereditary Hearing Loss homepage. Available at: http://webhost.ua.ac.be/hhh/. Accessed Jan 23, 2006
28. Karlsson KK, Harris JR, Svartengren M. Description and primary results from an audiometric study of male twins. Ear Hear 1997;18:114-120
29. Gates GA, Couropmitree NN, Myers RH. Genetic associations in age-related hearing thresholds. Arch Otolaryngol Head Neck Surg 1999;125:654-659
30. DeStefano AL, Gates GA, Heard-Costa N, Myers RH, Baldwin CT. Genomewide linkage analysis to presbycusis in the Framingham Heart Study. Arch Otolaryngol Head Neck Surg 2003;129:285-289
31. Zhu M, Yang T, Wei S, et al. Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26). Am J Hum Genet 2003;73:1082-1091
32. Brownstein Z, Avraham KB. Future trends and potential for treatment of sensorineural hearing loss. Semin Hear 2006;27:193-204
33. Barbi M, Binda S, Caroppo S, Primache V. Neonatal screening for congenital cytomegalovirus infection and hearing loss. J Clin Virol 2006;35:206-209