The long term evolution of 6 adult patients with Cohen syndrome and their behavioral characteristics.

[cohen syndrome]

Cohen syndrome is an autosomal recessive , multiple congenital anomalies /mental retardation (MCA /MR ) syndrome , caused by a mutation in the COH 1 gen , localized on chromosome 8 q 22 . COH 1 encodes a transmembrane protein of 4 .022 amino-acids with a presumed role in vesicle-mediated sorting and intracellular protein transport . Clinical features are non progressive psychomotor retardation and microcephaly , characteristic facial features , retinal dystrophy , and intermittent neutropenia . Examination of the long -term evolution of 6 patients with Cohen syndrome shows that the clinical features are rather stable during evolution . Description of their actual behavior on the basis of standardized questionnaires shows that no severe behavior problems are observed in any of the 6 patients . Taking into account their mental age , their behavior is quiet and easy to handle by their environment .