Autistic Spectrum Disorders in Velo-Cardio Facial Syndrome (22q11.2 Deletion)

• Published in: Journal of autism and developmental disorders Vol. 37; no. 9; pp. 1776 - 1786
• Main Authors: Antshel, Kevin M, Aneja, Alka, Strunge, Leslie, Peebles, Jena, Fremont, Wanda P, Stallone, Kimberly, AbdulSabur, Nuria, Higgins, Anne Marie, Shprintzen, Robert J, Kates, Wendy R
• Format: Journal Article
• Language: English
• Published: Heidelberg Springer 01.10.2007; Springer Nature B.V
• Subjects: Adaptation, Psychological; Adolescent; Adolescents; Amygdala - physiopathology; Anxiety Disorders; Autism; Autism Spectrum Disorders; Autistic children; Autistic Disorder - diagnosis; Autistic Disorder - epidemiology; Autistic spectrum disorders; Behavior; Behavior Problems; Biological and medical sciences; Brain; Child; Child clinical studies; Children; Chromosomes, Human, Pair 22 - genetics; Clinical Diagnosis; Cognition Disorders - diagnosis; Cognition Disorders - epidemiology; Comorbidity; Delayed Speech; Developmental disorders; Diagnosis; DiGeorge Syndrome - epidemiology; DiGeorge Syndrome - genetics; DiGeorge Syndrome - physiopathology; Down Syndrome; Etiology; Executive function; Female; Gene Deletion; Genetics; Genotype & phenotype; Humans; Individual Characteristics; Infantile autism; Inhibition; Interpersonal Competence; Magnetic Resonance Imaging; Male; Medical sciences; Memory; Mental disorders; Metabolic diseases; Neuropsychological Tests; Obesity; Pervasive Developmental Disorders; Phenotypes; Prevalence; Psychiatry; Psychological Patterns; Psychological Tests; Psychology. Psychoanalysis. Psychiatry; Psychopathology; Psychopathology. Psychiatry; Schizophrenia; Severity of Illness Index; Short Term Memory; Surveys and Questionnaires; Velocardiofacial syndrome; United States > US; Baltimore Maryland; Chromosomal aberration; Volumetric analysis; Executive function; Amygdala; Central nervous system; Cognition; Developmental disorder; Di George's syndrome; Encephalon; 22q11.2 deletion; Abnormal chromosome G22; Deletion; Child; Amygdaloid nucleus; Human; Velocardiofacial syndrome; Basal ganglion; Nuclear magnetic resonance imaging; Autism spectrum disorder; Autism; Symptomatology; Concomitant disease; School age; Adolescent; Abnormal chromosome; Comparative study
• ISSN: 0162-3257; 1573-3432
• DOI: 10.1007/s10803-006-0308-6

The extent to which the phenotype of children comorbid for velocardiofacial syndrome (VCFS) and autism spectrum disorders (ASD) differs from that of VCFS-only has not been studied. The sample consisted of 41 children (20 females) with VCFS, ranging in age from 6.5 years to 15.8 years. Eight children with VCFS met formal DSM-IV diagnostic criteria for autism based upon the ADI-R. These eight plus an additional nine participants met diagnostic criteria for an autistic spectrum disorder (VCFS + ASD). Ninety-four percent of the children with VCFS + ASD had a co-occurring psychiatric disorder while 60% of children with VCFS had a psychiatric disorder. Children with VCFS + ASD had larger right amygdala volumes. All other neuroanatomic regions of interest were statistically similar between the two groups.