Abstract
Deafblindness, or dual sensory loss (DSL), is a combined vision and hearing disability. Most important causes for congenital DSL are prematurity, CHARGE and Down syndrome, perinatal cytomegalovirus (CMV) infection, and meningitis. Usher syndrome is the commonest cause for acquired DSL. Mental, behavioral, and autism spectrum disorders are more frequent in children with DSL. Overlap of symptoms interferes with timely detection. Early detection of visual symptoms is extremely important as underlying causes may be correctable, treatable, or require adaptations and appropriate, specialized support. Therefore, children with DSL need orthoptic and ophthalmological assessments to detect refractive errors, strabismus, amblyopia or other disorders related to the underlying cause of DSL. Early signs of retinitis pigmentosa (night blindness or subtle retinal changes) in Usher syndrome may occur in prepuberty or puberty and can be detected with swept-source optical coherence tomography (SS-OCT), electrophysiology, and visual fields. Cerebral visual impairment (CVI) occurs in approximately 30% of the population and needs specialized counseling. All children with sensorineural deafness need a full ophthalmological work-up at the time of detection and regular follow-up examinations are mandatory. Cochlear implants help to develop speech and cognitive skills. Timing of implantation requires careful planning to optimize outcomes and facilitate rehabilitation. Finally, empathy to communicate with deafblind children is crucial. Practical guidelines for professionals to obtain required information facilitate optimal interaction with the child. Support programs should be accessible, supportive, and in concordance with the severity of DSL, and should be developed together with the child and family.
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