title: Challenging behavior in Smith-Lemli-Opitz syndrome: initial test of biobehavioral influences.
abstract: OBJECTIVE
  To study challenging behavior (destruction, aggression, self-injury, stereotypy) in children with Smith-Lemli-Opitz syndrome (SLOS) using a biobehavioral model that helps distinguish biological from socially mediated variables influencing the behavior.
  
  
  BACKGROUND
  SLOS is an autosomal-recessive syndrome of multiple malformations and intellectual disability resulting from a genetic error in cholesterol synthesis in all cells and tissues, including brain. The exact cause of the challenging behavior in SLOS is unclear, but defective brain cholesterol synthesis may contribute. Because the precise genetic and biochemical etiology of SLOS is known, this disorder is a good model for studying biological causes of challenging behavior.
  
  
  METHODS
  In a preliminary application of a biobehavioral model, we studied the association between cholesterol levels (as a biochemical indicator of disease severity) and behavior subtype ("biological" vs "learned") in 13 children with SLOS. Parents completed a questionnaire that categorized challenging behavior as influenced primarily by social or nonsocial (thus, presumably biological) factors.
  
  
  RESULTS
  The severity of the cholesterol synthesis defect correlated significantly with behavior subtype classification for 1 of 2 challenging behaviors. Greater severity of the cholesterol synthesis defect was associated with behavior being classified as primarily influenced by biological factors.
  
  
  CONCLUSIONS
  The interplay between challenging behavior and defective cholesterol synthesis in SLOS may help explain biological influences on the behavior. Our findings have implications for research on the effectiveness of behavioral and medical treatments for behavioral difficulties in SLOS and other neurodevelopmental disorders.
authors.affiliation: Division of Psychology, Institute on Development & Disability, Institute on Development & Disability, Oregon Health & Science University, Portland 97239, USA. freemaku@ohsu.edu
authors.forename: Kurt A
authors.initials: KA
authors.lastname: Freeman
authors.forename: Rose
authors.initials: R
authors.lastname: Eagle
authors.forename: Louise S
authors.initials: LS
authors.lastname: Merkens
authors.forename: Darryn
authors.initials: D
authors.lastname: Sikora
authors.forename: Kersti
authors.initials: K
authors.lastname: Pettit-Kekel
authors.forename: Mina
authors.initials: M
authors.lastname: Nguyen-Driver
authors.forename: Robert D
authors.initials: RD
authors.lastname: Steiner
mesh_terms: D000293:Adolescent; D000374:Aggression / Q000523:psychology*; D002648:Child; D002652:Child Behavior / Q000523:psychology*; D002675:Child, Preschool; D002784:Cholesterol / Q000097:blood; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000097:blood / Q000523:psychology*; D008297:Male; D016728:Self-Injurious Behavior / Q000523:psychology*; D012720:Severity of Illness Index; D019082:Smith-Lemli-Opitz Syndrome / Q000097:blood / Q000523:psychology*
chemical_list: D002784:Cholesterol
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