Obsessive‐compulsive disorder in patients with velocardiofacial (22q11 deletion) syndrome

Abstract

The study of neurogenetic microdeletion syndromes provides an insight into the developmental psychopathology of psychiatric disorders. The aim of the study was to evaluate the prevalence of psychiatric disorders, especially obsessive-compulsive disorder (OCD), in patients with velocardiofacial syndrome (VCFS), a 22q11 microdeletion syndrome. Forty-three subjects with VCFS of mean age 18.3 +/- 10.6 years were comprehensively assessed using semi-structured psychiatric interview and the Yale-Brown obsessive compulsive scale (Y-BOCS). Best estimate diagnoses were made on the basis of information gathered from subjects, parents, teachers, and social workers. Fourteen VCFS subjects (32.6%) met the DSM-IV criteria for OCD. OCD had an early age of onset and generally responded to fluoxetine treatment. It was not related to mental retardation. The most common obsessive-compulsive symptoms were contamination, aggression, somatic worries, hoarding, repetitive questions, and cleaning. Sixteen of the 43 patients (37.2%) had attention-deficit/hyperactivity disorder (ADHD), and 7 (16.2%) had psychotic disorder. The results of our study suggest that there is a strong association between VCFS and early-onset OCD. This finding may be significant in the understanding of the underlying genetic basis of OCD.

Access to special care dentistry, part 6. Special care dentistry services for young people

“…48 Gothelf et al looked at OCD in patients with velocardiofacial syndrome (VCFS). 51 In a group of 43 subjects with a mean age of 18.3 years, 32.6% of the group met the criteria for OCD. Typically the OCD was of early age onset, generally responded to fluoxetine (Prozac) treatment and was not related to learning disability.…”

“…This finding may be signifi cant in under standing the underlying genetic basis of OCD. 51 Pediatric autoimmune neuropsychiatric disorders associated with streptococcal of a study by Bodner et al suggest that streptococcal infection may also be linked to sudden onset of OCD in adults. 52 OCD usually responds well to medi cal treatment such as fl uoxetine and/or exposure-based psychotherapy used for desensitisation.…”

Associations Between Performance on the Rey-Osterrieth Complex Figure and Regional Brain Volumes in Children with and without Velocardiofacial Syndrome

“…Attention-deficit hyperactivity disorder (ADHD) is the most common psychiatric morbidity in children with VCFS, affecting approximately one-third to two-fifths of children (Antshel et al, 2006;Gothelf et al, 2004a). In addition to ADHD, mood, anxiety and oppositional defiant disorders are observed at increased prevalence rates compared to the general population (Antshel et al, 2006;Feinstein et al, 2002;Gothelf et al, 2004b;Papolos et al, 1996;Vogels et al, 2002). Furthermore, individuals with VCFS may be predisposed to psychiatric conditions in adulthood, most commonly schizophrenia (Shprintzen et al, 1992;Murphy, Jones, & Owen, 1999).…”

Fish based preimplantation genetic diagnosis to prevent DiGeorge syndrome

“…Clinically, this deletion results in a syndrome of abnormalities and symptoms which involve several medical disciplines. Presentation includes typical facial features with variable degrees of cleft palate, cardiovascular anomalies, and cognitive disabilities, abnormal development of the thymus gland associated with immune deficiencies, cerebrovascular anomalies and high incidence of schizophrenia [9,10]. The main clinical features are represented in the CATCH acronym, which stands for cardiac defects, abnormal facials, Thymic hypoplasia, cleft palate and hypocalcaemia [11].…”