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

Elaine Tierney, Ngozi A. Nwokoro, Forbes D. Porter, Lisa S. Freund, Jaswinder K. Ghuman, Richard I. Kelley

Research output: Contribution to journalArticlepeer-review

142 Scopus citations


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 dys-regulation, 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., 1998, 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.

Original languageEnglish (US)
Pages (from-to)191-200
Number of pages10
JournalAmerican journal of medical genetics
Issue number2
StatePublished - Jan 15 2001


  • 7-dehyrocholesterol
  • Autism
  • Autism Diagnostic Interview (ADI)
  • Behavior phenotype
  • Cholesterol
  • Metabolic disorder
  • Multiple congenital disorder
  • Opisthokinesis, Temperament and Atypical Behavior Scale (TABS)
  • Screen for Social Interaction
  • Sensory Profile
  • Smith-Lemli-Opitz syndrome
  • Temperament dys-regulation

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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