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BACKGROUND The majority of children with 22q11.2DS deletion syndrome (22q11.2DS) have learning disabilities, and a substantial number have mental retardation. Although cognitive data have been reported on several samples of children with 22q11.2DS, data on their early developmental milestones are limited. METHODS The present study used a retrospective(More)
OBJECTIVE To examine prevalence rates of psychopathology in children with velocardiofacial syndrome (VCFS). METHOD One hundred fifty-four children ages 6 to 15 participated in our between-group design with three samples, 84 children with VCFS (37 girls, 47 boys), 32 sibling controls (18 girls, 14 boys), and 38 community controls (12 girls, 26 boys). The(More)
OBJECTIVE To investigate the association between mesial temporal lobe morphology, ratios of prefrontal cortex to amygdala and hippocampus volumes, and psychiatric symptomatology in children and adolescents with velocardiofacial syndrome (VCFS). METHOD Scores on behavioral rating scales and volumetric measures of the amygdala, hippocampus, and prefrontal(More)
Adaptive functioning was examined in children with Attention Deficit Hyperactivity Disorder (ADHD) or Attention Deficit Disorder (ADD), and a psychiatric comparison group of children with pervasive developmental disorders or mild mental retardation (PDD/MR). As assessed with the Vineland Adaptive Behavior Scales, adaptive functioning was well below average(More)
Sex differences in cognitive functioning were investigated in children with velocardiofacial syndrome (VCFS), a genetic defect caused by a microdeletion on chromosome 22q.11. The study population consisted of six groups: 50 boys with VCFS (M = 11.1, SD = 2.7), 40 girls with VCFS (M = 10.8, SD = 2.5), 13 male siblings of the participant with VCFS (M = 12.3,(More)
The goal of this study was to determine the frequency of ophthalmic disorders in a group of young children with Down syndrome who were unselected for ophthalmic abnormalities, and to determine whether examination by a pediatric ophthalmologist should become standard practice. Of 77 children referred to a Down syndrome clinic at a teaching hospital and(More)
Because of previous findings that parents of children with autistic disorder may be at increased risk for anxiety disorders and/or mood disorders, the Center for Epidemiological Studies-Depression (CES-D) Scale and the Modified Maudsley Obsessive-Compulsive Inventory (MMOCI) were administered to parents of children with autistic disorder and parents of(More)
This paper presents a conceptual review of the genetic underpinnings of 22q11.2 Deletion Syndrome. The neuroanatomical, neuropsychological, behavioral, and psychiatric phenotype associated with 22q11.2 Deletion Syndrome is also explored, including variables that are thought to affect symptom expression. The history of the deletion syndrome is described, and(More)
Ninety-two children with velocardiofacial syndrome (VCFS), a genetic disorder caused by a microdeletion of chromosome 22q11.2 and an age, race, and gender-ratio comparable sample of 59 control participants were included in the project. Participants received an MRI as well as a comprehensive neuropsychological battery; the primary outcome measure in the(More)
Congenital Toxoplasma gondii infection can result in intracranial calcification, hydrocephalus and retinochoroiditis. Acquired infection is commonly associated with ocular disease. Pathology is characterized by strong proinflammatory responses. Ligation of ATP by purinergic receptor P2X(7), encoded by P2RX7, stimulates proinflammatory cytokines and can lead(More)