Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome

Am J Med Genet. 2001 Jan 15;98(2):191-200. doi: 10.1002/1096-8628(20010115)98:2<191::aid-ajmg1030>;2-m.


The behavior phenotype of Smith-Lemli-Opitz syndrome (SLOS) was studied by assessing behavior, social, and communication abilities, sensory hyperreactivity, and the deficits associated with autistic disorder. Fifty-six SLOS subjects, age 0.3 to 32.3 years, were evaluated by multiple age-dependent questionnaires and telephone interviews. Of the 56 subjects, 50 (89%) had a history of repeated self-injury: 30 (54%) bit themselves; 27 (48%) head-banged; and 30 (54%) threw themselves backward in a highly characteristic upper body movement ("opisthokinesis"). Forty-seven of these subjects were also evaluated by direct observation and by direct interview of the parent or caregiver. Of 11 subjects 10 years or older, three (27%) had a stereotypic stretching motion of the upper body accompanied by hand flicking. Additional measures showed sensory hyperreactivity, temperament dysregulation, sleep disturbance, and social and communication deficits. Nine of 17 subjects (53%) met the diagnostic criteria for autistic disorder by the Autism Diagnostic Interview-Revised (ADI-R) algorithm questions [Lord et al., 1993, 1994]. Thus, SLOS is a metabolic disorder that can be associated with autism and other behavioral characteristics that define a distinctive and diagnostically important behavioral disorder.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Algorithms
  • Autistic Disorder / complications
  • Autistic Disorder / diagnosis
  • Behavior*
  • Child
  • Child, Preschool
  • Cholesterol / therapeutic use
  • Female
  • Humans
  • Infant
  • Interpersonal Relations
  • Interview, Psychological
  • Male
  • Motor Activity
  • Phenotype
  • Sensation Disorders / complications
  • Smith-Lemli-Opitz Syndrome / genetics
  • Smith-Lemli-Opitz Syndrome / physiopathology
  • Smith-Lemli-Opitz Syndrome / psychology*


  • Cholesterol