| Abstrakt: |
Velocardiofacial syndrome (VCFS) is an autosomal dominant 22g11.2 microdeletion syndrome, the most common microdeletion syndrome in humans. Its phenotype includes learning difficulties, intellectual disability, congenital heart disease, abnormalities of the palate, hypocalcemia, immune deficiency and characteristic facial features. The behavioral phenotype includes intellectual abilities ranging from borderline intelligence to moderate intellectual disability, poor communication skills and a high frequency of psychiatric disorders with psychotic and affective symptoms developing in adolescence or early adulthood. The occurrence of borderline personality disorder with VCFS as part of its behavioral phenotype is yet to be reported. A case report of a 34-year-old Caucasian woman with mild intellectual disability is described with a history of fleeting psychotic and affective symptoms with poor response to treatment. It was when her diagnosis of borderline personality disorder was confirmed that clozapine was commenced, with a remarkable improvement in her affective symptoms, instability of mood and fleeting psychotic symptoms. Self-injurious and other maladaptive behaviors abated and meaningful engagement with services became possible. The case highlights that borderline personality disorder needs to be recognised as part of the behavioral phenotype of VCFS. The treatment implications include the need to consider treatment for resolution of cognitive-perceptual (psychosis like) symptoms, symptoms of affective instability, symptoms of behavioral dyscontrol, anxiety symptoms and self-injurious behavior. Further longitudinal research is needed to investigate the strength of the association between VCFS and presence of borderline personality disorder symptoms and intellectual disability. Treatment options need to be explored with evidence based research of VCFS for treatment of psychiatric disorders associated with the condition. [ABSTRACT FROM AUTHOR] |
