Different deafblind syndromes and cognitive function : Geno-phenotype correlations and/or sensory deprivation

• Profound congenital or early aquired deafness is one of the most common severe disabilities (1-2/1000 newborns). Approximately 30% of these children have additional functional disabilities (syndromes). Today nearly 400 syndromes are known, and the most common combination of organ dysfunctions are ear and eye- deafblindness. Many deafblind syndromes have additional dysfunctions of the central nervous system (learning disabilities, delayed mental development etc). Since communication to a large extent is based on an intimate interaction between sight and hearing, this dual sensory loss can if not compensated give rise to severe sensory deprivation and communications problems. We will report results from cognitive studies in Usher and Alström syndrome and some clinical observations regarding CHARGE syndrome. The etiologies of deafblindness with additional cognitive dysfunctions have to be diagnosed very early in order to enhance basic communication skills and habilitation in children with deafblindness have to be enhance the use of multiple sensory capacities such as hearing, vision, tactile, smell, and taste. The importance of early and correct diagnoses for early intervention will be discussed.

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