December 15, 2009 Features

Audiologists' Role in Early Diagnosis of Usher Syndrome

Usher syndrome is a frequent cause of deaf-blindness and involves sensorineural hearing loss and retinitis pigmentosa (RP). It occurs in four of every 10,000 births (NIH). The hearing loss is always sensorineural; the vision loss is always progressive; and the etiology of this combination is always genetic, specifically autosomal recessive. Parents are literally "blindsided" by this diagnosis and frequently complain this cannot be genetic because it is "not in their family." Such is the nature of recessive inheritance: both parents are asymptomatic, unknowing carriers of the same gene.

RP is a degenerative retinal disease in which initially sighted individuals gradually lose their vision. Although RP occurs in one of every 4,000 persons in the general population, about 14% of all RP cases are caused by Usher syndrome (Hamel, 2006). The pattern of vision loss is quite predictable: night blindness followed by restricted tunnel vision and later loss of acuity and color perception. The onset and rate of progression of RP are, however, highly variable. The delayed onset of expression presents a challenge to the audiologist in assisting families with the diagnosis of Usher syndrome. Although clinical observation and behavioral measures of visual function are possible in older children, the definitive diagnostic test is objective: an electroretinalgram (ERG). Using electrodes placed on the cornea, an ERG measures the responses of retinal photoreceptor cells to light stimulation.

There are three recognized clinical types of Usher syndrome, labeled simply Type I, Type II, and Type III. While some atypical expressions have been identified, they are beyond the scope of this article (for a review, see Cohen et al., 2007). The three types are distinguished primarily by severity of hearing loss, presence or absence of vestibular function, and onset of vision loss. All these variables are important, as hearing loss alone cannot diagnose Usher syndrome, nor can it differentiate clearly between the subtypes (Wagenaar et al., 1996).

Characteristics

Type I presents with congenital, severe-to-profound sensorineural hearing loss, no vestibular function, and noticeable vision involvement in the preteen years. Due to the severity of the hearing loss, hearing aids are generally ineffective. Individuals with Type I are typically identified as deaf during childhood and, prior to cochlear implantation, placed in educational programs that focus on visual communication. Because of the lack of vestibular function these children demonstrate delays in sitting and walking, with the latter being reported at older than 18 months of age (Moller et al., 1989). Night blindness typically appears by age 10. These children may be afraid of the dark and are often described as clumsy because they bump into or trip over objects in the environment. Significant deterioration of visual field and acuity begins between the second and third decade of life, with cataracts being a common complication (Piazza et al., 1986; Edwards et al., 1998; Sadeghi, 2006).

Most individuals with Type II exhibit a stable, moderate sensorineural hearing loss (Reisser et al., 2002) and often respond well to amplification. The sub-Type IIa, however, may demonstrate progressive hearing loss not found in other Type II expressions (Sadeghi et al., 2004). Balance is unaffected and vision loss is unnoticed until late teens. Although the sequence of RP progression is similar to that of other types of RP (Iannaccone et al., 2004), visual field and acuity impairments are somewhat less severe compared to Type I during the third and fourth decades of life (Piazza et al., 1986; Edwards et al., 1998; Sadeghi, 2006).

Type III has the most variable onset and presentation. Hearing loss is progressive and vestibular function may or may not be affected (Sadeghi et al., 2005). This clinical type, although common in Finland, is rare in the United States and has vision outcomes more similar to Type I (Plantinga, 2006). Type III represents 40% of all cases in Finland but only 2%–4% of all cases in the United States.

The National Center for Hearing Assessment and Management (NCHAM) reports that 95% of infants born in the United States are evaluated prior to discharge by early hearing detection and intervention programs (EHDI), which have lowered the average age of identification of hearing loss from 12–18 months to 6 months or younger (Harrison & Roush, 1996). Sininger and colleagues (2009) demonstrated that newborns screened through EHDI are diagnosed more than 24 months earlier than those babies who were not screened. Despite these achievements, a diagnosis of Usher syndrome, with its devastating vision prognosis, typically lags five or 10 years behind the identification of the hearing loss (Kimberling & Lindenmuth, 2007). Although parents learn of their child's hearing loss relatively early, without a differential diagnosis they make critical decisions related to intervention, communication, and educational options without knowing their child eventually will be blind.

Parents rely upon audiologists for information and support in working with their children who have hearing loss. ASHA's Guidelines for the Audiologic Assessment of Children From Birth to 5 Years of Age recommend that audiologists should "as appropriate, discuss additional specialty evaluations (e.g., genetics, ophthalmology, child development) with parents/caregivers and the infants' primary care provider" (ASHA, 2004, p. 13). This recommendation requires that the audiologist be familiar with genetic epidemiology of hearing loss and resources for referral and information. Once a child is identified, intervention services require a multi-disciplinary team, but audiologists are often the first—and primary—health care provider for individuals with Usher syndrome, and they must recognize and refer for proper and timely diagnosis those individuals who present with clinical signs and symptoms that may suggest the presence of Usher syndrome. 

Josara Wallber, AuD, CCC-A, spent 25 years at the National Technical Institute for the Deaf, where in addition to her work with aural rehabilitation, amplification, and cochlear implants for college students, she taught in the deaf education program and was a certified ophthalmic assistant working closely with the deaf-blind community. She is an associate clinical professor at Idaho State University, where she teaches and supervises clinical activities with an emphasis on cochlear implants. Contact her at walljosa@isu.edu.  

cite as: Wallber, J. (2009, December 15). Audiologists' Role in Early Diagnosis of Usher Syndrome. The ASHA Leader.

Access Audiology Focuses on Usher Syndrome

For more information on Usher syndrome, visit the November/December issue of Access Audiology, the bi-monthly clinical e-newsletter that highlights topics of relevance to audiologists. This issue includes Usher syndrome-related resources on the ASHA Web site as well as other Web resources. Anyone may subscribe to Access Audiology by sending a blank e-mail with "subscribe" in the subject line to access-audiology-request@lists.asha.org.

References

American Speech-Language-Hearing Association (2004) Guidelines for the audiologic assessment of children from birth to 5 years of age. Available from www.asha.org/policy.

Cohen, M., Bitner-Glindziez, M., & Luxon, L. (2007). The changing face of Usher syndrome: Clinical implications. International Journal of Audiology, 46, 82–93.

Edwards, A., Fishman, G., Anderson, R., Grove, S., & Derlackie, D. (1998 ). Visual acuity and visual field impairment in usher syndrome. Archives of Ophthalmology, 116(2), 165–168.

Hamel, C. (2006). Retinitis pigmentosa. Orphanet Journal of Rare Diseases, 1(40), 1–12.

Harrison, S., & Rousch, J. (1996). Age of suspicion, identificaton, and intervention for infants and young children with hearing loss: a national study. Ear and Hearing, 17, 55–62.

Innaccone, A., Kritchevsky, S., Ciccarelli, M., Tedesco, S., Macahuso, C., Kimberling, W., & Somes, G. (2004). Kinetics of visual field loss in usher syndrome type II. Investigative Ophthalmology & Visual Science, 45(3), 784–792.

Kimberling, W., & Lindenmuth, A. (2007). Genetics, hereditary hearing loss, and ethics. Seminars in Hearing, 28(3), 216–225.

Moller, C., Kimberling, W., Davenport, S., Priluck, L., & White, V. (1989). Usher syndrome: An otoneurologic study. Laryngoscope, 99, 73–79.

National Institute of Health. (2008, February). Usher Syndrome, National Institute on Deafness and Other Communication Disorders at http://www.nidcd.nih.gov/health/hearing/usher.asp Accessed October 2009.

National Center for Hearing Assessment and Management. (2009). Available at http://www.infanthearing.org.

Piazza, L., Fishman, G., Farer, M., Derlacki, D., & Anderson, R. (1986). Visual acuity loss in patients with usher's syndrome. Archives of Ophthalmology, 104(9), 1336–1339.

Plantinga, R., Pennings, R., Huygen, P., Sankila, E., Tuppurainen, K., Kleemola, L., Cremer, C., & Deutman, A. (2006). Visual impairment in Finnnish usher syndrome type III. Aca Ophthalmologica Scandinavica, 84(1), 36–41.

Reisser, C., Kimberling, W., & Otterstedde, C. (2002). Hearing loss in usher syndrome type II is nonprogressive. Annals of Otology, Rhinology, and Laryngology, 111, 1108–111.

Sadeghi, M, Cohn, E., Kelly, W., Kimberling, W., Tranebjarg, L., & Moller, C. (2004). Audiological findings in usher syndrome types IIa and II (non-IIa). International Journal of Audiology, 43, 136–143.

Sadeghi, M., Cohn, E., Kimberling, W., Tranebjarg, L., & Moller, C. (2005). Audiological and vestibular features in affected subject with USH3: a genotype/phenotype correlation. International Journal of Audiology, 44, 307–316.

Sadeghi, A., Eriksson, K., Kimberling, W., Sjostrom, A., & Moller, C. (2006). Longterm visual prognosis in usher syndorme types 1 and 2. Aca Ophthalmologica Scandinavica, 84(4), 537–544.

Sininger, Y., Martinez, A., Eisenberg, L,., Christensen, E., Grimes, A., & Hu, J. (2009). Newborn hearing screening speeds diagnosis and access to intervention by 20–25 months. Journal of the American Academy of Audiology, 20, 49–57.

Wagenaar, M., Snik, A., Kimberling, W., & Cremers, C. (1996). Carriers of usher syndrome type IB: is audiometric identification possible? The American Journal of Otology, 17, 853–858.



  

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