Genetics and Deafness: Implications for Education and Life Care of Deaf Students

By Schein, Jerome D.; Miller, Maurice H. | American Annals of the Deaf, Fall 2008 | Go to article overview

Genetics and Deafness: Implications for Education and Life Care of Deaf Students


Schein, Jerome D., Miller, Maurice H., American Annals of the Deaf


THE SEVERITY of deafness can obscure the presence of other disabilities that may accompany genetic anomalies, such as occur in Alport and Usher syndromes. Recent advances in genetics have heightened attention to various disabilities and dysfunctions that may coexist with deafness. Failure to recognize these additional disabilities when they occur can misguide educational planning; may open the afflicted deaf person to failure to identify diagnose, and manage potentially serious health conditions; and in some instances may even lead to loss of life. Of the many genetic conditions that have been identified, a few examples are cited to illustrate the need to inform parents, educators, and other caregivers about the importance of obtaining genetic information.

Deafness can so dominate the attention of practitioners that they may overlook other disabilities that might accompany it. Research has found that an estimated 1 of 3 deaf schoolchildren has an educationally or physically disabling condition (Schein & Miller, 1990).

Some of these additional disabilities are genetically linked to deafness. Their presence will go unrecognized unless the diagnostician is alert to the potential for the existence of such syndromes. Although the present article focuses solely on genetic conditions that include multiple disabilities, those that include deafness and other conditions that result from illnesses and accidents also deserve consideration, something we hope to address in a later paper.Advances in genetic research have increased attention to syndromes and spectra that include both deafness and other disabilities. Some of these conditions may not manifest themselves until late in childhood or in adulthood, and while some of these conditions are well known, others have only recently been identified (Miller & Schein, 2008). All are relevant to the care of deaf children and young deaf adults.

Knowing that additional physical problems may coexist with deafness should enable parents, as well as educators, audiologists, and other professionals who have a responsibility for deaf children, to avoid serious consequences that may occur if the additional conditions are overlooked. A good rule to follow is: Whenever deafness is identified, search for additional physical disabilities.

Adopting such diagnostic scrutiny can be justified by the overwhelming impact of deafness, which often obscures the possibility of other physical problems. In the present article, we consider some of the organ system pathologies that have been found along with auditory dysfunction to affect deaf persons. However, the syndromes and spectra we discuss represent only a sample of the range of conditions that include an additional disability with deafness. At least 60 syndromes have been identified that include deafness and other severe dysfunctions (Miller & Schein, 2008).

We use the term deafness throughout the remainder of the present article, even though in some instances hearing loss would be more appropriate. We hope, nonetheless, that use of the broader term improves readability without loss of either clarity or pertinence.

Ophthalmic Disorders

Contrary to popular notions that deafness is compensated by greater visual ability or acuity, the most common defects associated with deafness are ophthalmic. On average, deaf people tend to have visual defects at a greater rate than their age-group counterparts in the general population (Schein, 1975, 1990).

Usher syndrome is the best known and probably the most frequently occurring single coincidence of auditory and visual symptoms (Kimber, 2006; Wolf, Schein, & DeIk, 1982). In its commonest form, the deafness is present at birth and the visual loss develops slowly, usually up to the third decade of life, though variations abound. An ophthalmologist can usually make the diagnosis of Usher syndrome in a deaf child at about 5 years of age. Such early diagnosis can lead to treatment that anticipates the additional visual loss, prepares the child for what lies ahead, and enables the educational counselor to direct education toward occupations that will be suitable for a deafblind person. …

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