ABSTRACT
Three children with CHARGE association (coloboma, heart defect, atresia of the choanae, retarded growth and development, genital hypoplasia, ear anomalies and hearing defects) as well as concomitant autistic disorder are reported. Two of the children also had mental retardation. Several types of cerebral maldevelopment/dysfunction have been reported in CHARGE association. With regard to aetiology, involvement of the neural crest has been suggested. Autism in CHARGE association may represent a neuro-endocrine dysfunction. Children with a CHARGE association have many medical problems and therefore autistic behaviour can easily be overlooked. A multidisciplinary approach with respect to assessment, treatment, and habilitation is of vital importance.
