Autistic disorders in children with CHARGE association.

Abstract

CHARGE association (Coloboma, Heart defect, choanal Atresia, Retarded growth and development, Genital hypoplasia and Ear abnormalities) is thought to arise following an insult during early embryogenesis, probably around day 20–24. The pathogenesis of autism is not fully understood, but abnormalities in brain metabolism have been detected in the brainstem, cerebellum and mesolimbic system. The association with learning difficulties is well known.

The authors report the cases of three children with characteristic features of CHARGE association. Two of the children described had severe bilateral hearing loss and were assessed as having severe retardation; neither had any speech. The third had mild hearing impairment, an IQ of 80 and some verbal and sign language. All three fulfilled the criteria for autistic disorder (Diagnostic and Statistical Manual of Mental Disorders IV).