title: The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population.
abstract: BACKGROUND
  Deletion of the recurrent ~600 kb BP4-BP5 chromosomal region 16p11.2 has been associated with a wide range of neurodevelopmental outcomes.
  
  
  METHODS
  To clarify the phenotype of 16p11.2 deletion, we examined the psychiatric and developmental presentation of predominantly clinically referred individuals, with a particular emphasis on broader autism phenotype characteristics in individuals with recurrent ~600 kb chromosome 16p11.2 deletions. Using an extensive standardized assessment battery across three clinical sites, 85 individuals with the 16p11.2 deletion and 153 familial control subjects were evaluated for symptom presentation and clinical diagnosis.
  
  
  RESULTS
  Individuals with the 16p11.2 deletion presented with a high frequency of psychiatric and developmental disorders (>90%). The most commonly diagnosed conditions were developmental coordination disorder, phonologic processing disorder, expressive and receptive language disorders (71% of individuals >3 years old with a speech and language-related disorder), and autism spectrum disorder. Individuals with the 16p11.2 deletion not meeting diagnostic criteria for autism spectrum disorder had a significantly higher prevalence of autism-related characteristics compared with the familial noncarrier control group. Individuals with the 16p11.2 deletion had a range of intellectual ability, but IQ scores were 26 points lower than noncarrier family members on average.
  
  
  CONCLUSIONS
  Clinically referred individuals with the 16p11.2 deletion have high rates of psychiatric and developmental disorders and provide a genetically well-defined group to study the emergence of developmental difficulties, particularly associated with the broader autism phenotype.
authors: Division of Developmental Medicine, Boston Children's Hospital, Boston; Department of Psychiatry, Harvard Medical School, Boston, Massachusetts. Electronic address: ellen.hanson@childrens.harvard.edu.
authors: Ellen
authors: E
authors: Hanson
authors: Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington.
authors: Raphael
authors: R
authors: Bernier
authors: Division of Developmental Medicine, Boston Children's Hospital, Boston.
authors: Ken
authors: K
authors: Porche
authors: Division of Developmental Medicine, Boston Children's Hospital, Boston.
authors: Frank I
authors: FI
authors: Jackson
authors: Department of Pediatrics, Baylor College of Medicine, Houston, Texas;
authors: Robin P
authors: RP
authors: Goin-Kochel
authors: Division of Developmental Medicine, Boston Children's Hospital, Boston.
authors: LeeAnne Green
authors: LG
authors: Snyder
authors: Division of Developmental Medicine, Boston Children's Hospital, Boston; Department of Psychiatry, Harvard Medical School, Boston, Massachusetts.
authors: Anne V
authors: AV
authors: Snow
authors: Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington.
authors: Arianne Stevens
authors: AS
authors: Wallace
authors: Division of Developmental Medicine, Boston Children's Hospital, Boston.
authors: Katherine L
authors: KL
authors: Campe
authors: Department of Biostatistics, Columbia University Mailman School of Public Health, New York, New York.
authors: Yuan
authors: Y
authors: Zhang
authors: Department of Biostatistics, Columbia University Mailman School of Public Health, New York, New York.
authors: Qixuan
authors: Q
authors: Chen
authors: Department of Biostatistics, Columbia University Mailman School of Public Health, New York, New York.
authors: Debra
authors: D
authors: D'Angelo
authors: Autism and Developmental Medicine Institute, Geisinger Health System, Danville, Pennsylvania; Genomic Medicine Institute, Geisinger Health System, Danville, Pennsylvania; Department of Radiology, Geisinger Health System, Danville, Pennsylvania;
authors: Andres
authors: A
authors: Moreno-De-Luca
authors: Autism and Developmental Medicine Institute, Geisinger Health System, Danville, Pennsylvania.
authors: Patrick T
authors: PT
authors: Orr
authors: Department of Mathematics, Bucknell University, Lewisburg, Pennsylvania;
authors: K B
authors: KB
authors: Boomer
authors: Autism and Developmental Medicine Institute, Geisinger Health System, Danville, Pennsylvania.
authors: David W
authors: DW
authors: Evans
authors: Thompson Center for Autism and Neurodevelopmental Disorders, University of Missouri, Columbia, Missouri.
authors: Stephen
authors: S
authors: Kanne
authors: Department of Pediatrics, Baylor College of Medicine, Houston, Texas;
authors: Leandra
authors: L
authors: Berry
authors: Division of Developmental Medicine, Boston Children's Hospital, Boston.
authors: Fiona K
authors: FK
authors: Miller
authors: Division of Developmental Medicine, Boston Children's Hospital, Boston.
authors: Jennifer
authors: J
authors: Olson
authors: Department of Neurology, University of California, San Francisco, San Francisco, California.
authors: Elliot
authors: E
authors: Sherr
authors: Autism and Developmental Medicine Institute, Geisinger Health System, Danville, Pennsylvania; Genomic Medicine Institute, Geisinger Health System, Danville, Pennsylvania.
authors: Christa L
authors: CL
authors: Martin
authors: Autism and Developmental Medicine Institute, Geisinger Health System, Danville, Pennsylvania; Genomic Medicine Institute, Geisinger Health System, Danville, Pennsylvania.
authors: David H
authors: DH
authors: Ledbetter
authors: Simons Foundation, New York, New York.
authors: John E
authors: JE
authors: Spiro
authors: Departments of Pediatrics and Medicine, Columbia University, New York, New York.
authors: Wendy K
authors: WK
authors: Chung
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002885:Chromosomes, Human, Pair 16; D003071:Cognition; D002658:Developmental Disabilities / Q000235:genetics* / Q000503:physiopathology / Q000523:psychology; D006579:Heterozygote; D006801:Humans; D007360:Intelligence / Q000235:genetics; D001523:Mental Disorders / Q000235:genetics* / Q000503:physiopathology / Q000523:psychology; D010641:Phenotype; D055815:Young Adult
keywords: 16p11.2 Deletion; Autism; Autism spectrum disorder; Developmental disability; Genetics; Psychiatric diagnosis