title: Children with 7q11.23 duplication syndrome: psychological characteristics.
abstract: To begin to delineate the psychological characteristics associated with classic 7q11.23 duplication syndrome (duplication of the classic Williams syndrome region; hereafter classic Dup7), we tested 63 children with classic Dup7 aged 4-17 years. Sixteen toddlers aged 18-45 months with classic Dup7 and 12 adults identified by cascade testing also were assessed. For the child group, median General Conceptual Ability (similar to IQ) on the Differential Ability Scales-II was 85.0 (low average), with a range from severe disability to high average ability. Median reading and mathematics achievement standard scores were at the low average to average level, with a range from severe impairment to high average or superior ability. Adaptive behavior was considerably more limited; median Scales of Independent Behavior-Revised Broad Independence standard score was 62.0 (mild impairment), with a range from severe adaptive impairment to average adaptive ability. Anxiety disorders were common, with 50.0% of children diagnosed with Social Phobia, 29.0% with Selective Mutism, 12.9% with Separation Anxiety Disorder, and 53.2% with Specific Phobia. In addition, 35.5% were diagnosed with Attention Deficit/Hyperactivity Disorder and 24.2% with Oppositional Defiant Disorder or Disruptive Behavior Disorder-Not Otherwise Specified. 33.3% of the children screened positive for a possible Autism Spectrum Disorder and 82.3% were diagnosed with Speech Sound Disorder. We compare these findings to previously reported results for children with Williams syndrome and argue that genotype/phenotype studies involving the Williams syndrome region offer important opportunities to understand the contribution of genes in this region to common disorders affecting the general population.
authors.affiliation: Department of Psychological and Brain Sciences, University of Louisville, Louisville, Kentucky.
authors.forename: Carolyn B
authors.initials: CB
authors.lastname: Mervis
authors.affiliation: Department of Psychology, University of Wisconsin - Milwaukee, Milwaukee, Wisconsin.
authors.forename: Bonita P
authors.initials: BP
authors.lastname: Klein-Tasman
authors.affiliation: Department of Psychological and Brain Sciences, University of Louisville, Louisville, Kentucky.
authors.forename: Myra J
authors.initials: MJ
authors.lastname: Huffman
authors.affiliation: Department of Communication Sciences and Disorders, University of Vermont, Burlington, Vermont.
authors.forename: Shelley L
authors.initials: SL
authors.lastname: Velleman
authors.affiliation: Department of Psychological and Brain Sciences, University of Louisville, Louisville, Kentucky.
authors.forename: C Holley
authors.initials: CH
authors.lastname: Pitts
authors.affiliation: Department of Psychological and Brain Sciences, University of Louisville, Louisville, Kentucky.
authors.forename: Danielle R
authors.initials: DR
authors.lastname: Henderson
authors.affiliation: Department of Psychological and Brain Sciences, University of Louisville, Louisville, Kentucky.
authors.forename: Janet
authors.initials: J
authors.lastname: Woodruff-Borden
authors.affiliation: Department of Pediatrics, University of Nevada School of Medicine, Las Vegas, Nevada.
authors.forename: Colleen A
authors.initials: CA
authors.lastname: Morris
authors.affiliation: Departments of Medicine and Molecular Genetics and Institute of Medical Science, University of Toronto, Toronto, ON, Canada.
authors.forename: Lucy R
authors.initials: LR
authors.lastname: Osborne
mesh_terms: D000223:Adaptation, Psychological / Q000502:physiology*; D000293:Adolescent; D000328:Adult; D001008:Anxiety Disorders / Q000523:psychology*; D001289:Attention Deficit Disorder with Hyperactivity / Q000523:psychology*; D019958:Attention Deficit and Disruptive Behavior Disorders / Q000523:psychology*; D000067877:Autism Spectrum Disorder / Q000175:diagnosis; D002648:Child; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D007361:Intelligence Tests; D066229:Speech Sound Disorder / Q000175:diagnosis; D018980:Williams Syndrome / Q000235:genetics / Q000523:psychology*
keywords: 7q11.23 duplication syndrome; Williams syndrome; adaptive behavior; anxiety; autism spectrum disorder; intellectual ability; language; psychopathology; speech sound disorder