Manifestations psychopathologiques dans le syndrome de Joubert

Introduction

In the frame of works concerning psychiatric manifestations of genetic syndromes, we studied the psychopathological disorders of the Joubert Syndrome. This congenital syndrome affects the cerebellum and the brain stem.

Method

Six children and adolescents aged from 6 to 17 years old were recruited. Three of the six subjects had intellectual disability. A depression inventory was filled by the subjects. Two semi-structured interviews were proposed to their parents to collect information so as to identify psychopathological disorders subjects could have.

Results

Results showed a high prevalence of psychiatric disorders and an inter-individual variability. Indeed, five subjects out of six had psychiatric disorders: anxious disorders (social phobia, agoraphobia, generalized anxiety disorder), depression, psychotic disorder unspecified, pervasive developmental disorder, conduct disorder, tics, enuresis. For two subjects, intellectual disability was associated with autistic behaviors but only one of the two filled the diagnosis criteria for pervasive developmental disorder non-specified; the other did not fill the diagnosis criteria for pervasive developmental criteria nor for autism. Future studies might help to decide if these disorders are the expression of the Joubert Syndrome or if they are reactive disorders to the manifestations of this congenital syndrome.