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Related Experiment Videos

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

E Tierney1, N A Nwokoro, F D Porter

  • 1Department of Psychiatry, Kennedy Krieger Institute, Baltimore, Maryland 21231, USA. tierney@kennedykrieger.org

American Journal of Medical Genetics
|February 27, 2001
PubMed
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Smith-Lemli-Opitz syndrome (SLOS) is a metabolic disorder linked to significant behavioral issues. Many individuals exhibit self-injury, sensory problems, and social deficits, with some meeting autism criteria.

Area of Science:

  • Neurodevelopmental disorders
  • Metabolic disorders
  • Behavioral genetics

Background:

  • Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic metabolic disorder.
  • Behavioral phenotypes in SLOS are not fully understood.
  • Potential overlap between SLOS and autistic disorder warrants investigation.

Purpose of the Study:

  • To characterize the behavioral phenotype of SLOS.
  • To assess social and communication abilities, sensory hyperreactivity, and autistic disorder deficits in SLOS.
  • To determine the prevalence of autistic disorder diagnostic criteria in SLOS.

Main Methods:

  • Evaluation of 56 SLOS subjects (0.3–32.3 years) using age-dependent questionnaires and telephone interviews.
  • Direct observation and caregiver interviews for 47 subjects.

Related Experiment Videos

  • Assessment using Autism Diagnostic Interview-Revised (ADI-R) algorithm questions for 17 subjects.

    • Main Results:

    • 89% of subjects reported a history of self-injury (e.g., self-biting, head-banging, opisthokinesis).
    • 53% of evaluated subjects met diagnostic criteria for autistic disorder.
    • Additional findings included sensory hyperreactivity, temperament dysregulation, sleep disturbances, and social/communication deficits.

    Conclusions:

    • SLOS presents a distinct behavioral phenotype with high rates of self-injury and sensory issues.
    • A significant proportion of SLOS individuals meet criteria for autistic disorder, suggesting a link.
    • SLOS is a metabolic disorder associated with autism and other behavioral characteristics, forming a diagnostically important behavioral disorder.