Identification of congenital deafblindness

Abstract

For many reasons an accurate and straightforward identification of congenital deafblindness can be difficult. This article reports on the assessment procedures and experience in Denmark where medical examinations were combined with functional assessments performed through direct observation. The study evaluated the assessment procedure of 190 children and adults found to be congenitally deafblind. Among the 190 individuals 76 percent were determined using functional assessment in addition to medical examination. A case example involving a 12-year-old child is also presented to illustrate the complexity in identifying congenital deafblindness. It is concluded that determining deafblindness should not be limited to medical procedures (vision and hearing tests) alone, but may also involve a lengthy process to assess the level of sense functioning the individual possesses.

Deafblindness: A review of the literature

“…Medical definitions in terms of audiological and visual criteria; and 2. Functional definitions based on self-report and observation, evaluating the individual impact of vision and hearing loss on everyday life activities and the individual's possibilities for participation in society [1][2][3].…”

A qualitative evaluation of the National Expert Team regarding the assessment and diagnosis of deafblindness in Sweden

“…The value of accumulated knowledge is not surprising, as persons with deafblindness are a rare and heterogeneous population (Dammeyer 2014;Möller 2003;Wittich, Watanabe, and Gagné 2012) with whom audiology and ophthalmology professionals do not interact on a daily basis, as confirmed by this study. The importance of identifying the needs of the deafblind population at the individual level has been reported (Dalby et al 2009;Dammeyer 2012). The identification of these needs also seems to be one of the greatest benefits of the assessments conducted by the national deaf blindness Expert Team, both from the perspective of persons directly affected by deafblindness and from local professionals who were responsible for providing tailored interventions.…”

Horseback riding therapy for a deafblind individual enabled by a haptic interface

“…Only around one in five cases of deafblindess is congenital. The common causes are CHARGE syndrome and prematurity (Dammeyer, 2012). On the other hand, the most common cause of acquired deafblindness is an extremely rare genetic disorder known as Usher Syndrome.…”