NEUROBEHAVIORAL DEVELOPMENT IN JOUBERT-SYNDROME

Research on children with Joubert syndrome has focused on brain struct ural abnormalities and associated clinical symptoms. The degree of dev elopmental delay has not been objectively reported. We investigated th e neurobehavioral development of children with Joubert syndrome throug h neurobehavioral assessment in the largest sample to date. Thirty-two parents of children with Joubert syndrome completed the Child Develop ment Inventory and magnetic resonance imaging (MRI) data was gathered on 17 of these children. Results indicate that 94% were severely impai red according to the Child Development Inventory, with age being posit ively correlated with degree of neurobehavioral impairment. The averag e developmental age of our sample was 19 months (63% below chronologic al age). Severity of illness as measured by the General Development sc ale of the Child Development Inventory and severity of illness as meas ured by MRI (overall severity rating) did not yield consistent data re garding severity of the midbrain and cerebellar malformations. Similar ly, markers of abnormal cerebral development such as cortical atrophy and delayed myelination were independent of severity of illness rating s on the Child Development Inventory. The degree of developmental dela y in Joubert syndrome and the severity of gross central nervous system malformations appear independent.