Cognition, behavior, and development in Joubert syndrome

This article reports on a series of studies of children with Joubert syndro me who were examined in three investigations from 1994 through 1998. Neurop sychologic screening of 10 of 40 children showed a variety of deficits in c ognition, verbal memory, visuomotor, motor, and language-related tasks. Par ent report of developmental attainments revealed only 3 of 40 children func tioning in the borderline range, with the rest scoring in the severely impa ired range. Parent reports of behaviors revealed problems in temperament, h yperactivity, aggressiveness, and dependency, as well as problems in physic al development and care that were felt to be related to their neurologic ha ndicaps. Future directions of research with this rare disorder are suggeste d.