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 journalArticle

Abstract

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
Volume98
Issue number2
DOIs
StatePublished - Jan 15 2001

Fingerprint

Smith-Lemli-Opitz Syndrome
Autistic Disorder
Phenotype
Interviews
Communication
Temperament
Caregivers
Sleep
Hand
Head
Observation
Wounds and Injuries

Keywords

  • 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(clinical)

Cite this

Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome. / Tierney, Elaine; Nwokoro, Ngozi A.; Porter, Forbes D.; Freund, Lisa S.; Ghuman, Jaswinder K.; Kelley, Richard I.

In: American Journal of Medical Genetics, Vol. 98, No. 2, 15.01.2001, p. 191-200.

Research output: Contribution to journalArticle

Tierney, Elaine ; Nwokoro, Ngozi A. ; Porter, Forbes D. ; Freund, Lisa S. ; Ghuman, Jaswinder K. ; Kelley, Richard I. / Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome. In: American Journal of Medical Genetics. 2001 ; Vol. 98, No. 2. pp. 191-200.
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