title: Behavioral and psychiatric manifestations in Cornelia de Lange syndrome.
abstract: OBJECTIVE
  Cornelia de Lange syndrome (CdLS) is a rare genetic syndrome with clinical manifestations due to multiple affected organ systems including limbs, gastrointestinal, skin, and central nervous systems. Although the genetic basis of CdLS is now uncovered, how behavioral manifestations are associated with genetic and brain differences are less well understood. The current focused review systematically describes the main behavioral observations to date in individuals with CdLS, which have a significant impact on quality of life and adaptive functioning.
  
  
  RESULTS
  The CdLS behavioral phenotype includes autistic traits as a prominent feature; however, brain imaging studies, required to understand gene-brain-behavior connections in CdLS, are scarce. Moreover, autistic features in CdLS have a greater emphasis on repetitive behaviors, including self-injurious behaviors (SIB) and expressive communication deficits, different that the core social deficit seen in idiopathic autism. Current data strongly support the use of CdLS as a model disease for repetitive behaviors and associated developmental delay manifestations.
  
  
  CONCLUSIONS
  Behavioral phenotype characteristics in CdLS point to a preponderance of repetitive clinical phenomena as well as expressive verbal deficits that ought to inform specific treatment approaches in CdLS. In particular, repetitive behaviors associated with self-injury are of high negative impact on the quality of life for individuals with CdLS and their families. Treatment approaches geared to manage repetitive behaviors and self-injurious behaviors in CdLS are required in this developmental condition.
authors.affiliation: aDepartment of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland, USAbJinnah Sindh Medical University, Karachi, PakistancDepartment of Neurology, Harvard Medical School, Boston, Massachusetts, USA.
authors.forename: Marco A
authors.initials: MA
authors.lastname: Grados
authors.forename: Mustafa H
authors.initials: MH
authors.lastname: Alvi
authors.forename: Siddharth
authors.initials: S
authors.lastname: Srivastava
mesh_terms: D000328:Adult; D000067877:Autism Spectrum Disorder / Q000175:diagnosis / Q000523:psychology; D002648:Child; D003635:De Lange Syndrome / Q000175:diagnosis* / Q000523:psychology*; D002658:Developmental Disabilities / Q000175:diagnosis / Q000523:psychology; D003937:Diagnosis, Differential; D042241:Early Diagnosis; D006801:Humans; D007805:Language Development Disorders / Q000175:diagnosis / Q000523:psychology; D001523:Mental Disorders / Q000175:diagnosis* / Q000523:psychology*; D011788:Quality of Life / Q000523:psychology; D016728:Self-Injurious Behavior / Q000175:diagnosis / Q000523:psychology; D013239:Stereotyped Behavior