Cognitive and behavioral aspects of Smith-Lemli-Opitz syndrome

Andrea Diaz-Stransky, Elaine Tierney

Research output: Contribution to journalArticle

Abstract

The brain's high concentrations of cholesterol make it especially vulnerable to the cholesterol biosynthetic defect that characterizes Smith-Lemli-Opitz syndrome (SLOS). An attempt to characterize the cognitive and behavioral phenotype of SLOS has identified increased rates of intellectual disability, language and motor developmental delay, repeated self-injury behaviors, sensory hyperreactivity, hyperactivity, affect dysregulation, and sleep disturbances. Some research has suggested that carriers of the gene mutation that results in SLOS display increased risk of suicidal behavior. Cholesterol dysregulation impairs neuroplasticity, which may be a mechanism underlying some of the mentioned abnormalities. Discrete positive effects have been reported with the use of cholesterol supplementation in the treatment of SLOS. Research has been limited by the small number of subjects available, and a limited understanding of lipid metabolism in the brain. Hopefully future research will help clarify the role that cholesterol plays in cognitive and behavioral abnormalities like the ones associated with SLOS. This would accelerate the development of treatments for SLOS, and perhaps also further understanding of non-syndromic psychiatric disorders such as autism and attention deficit hyperactivity disorder.

Original languageEnglish (US)
Pages (from-to)295-300
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume160 C
Issue number4
DOIs
StatePublished - Nov 15 2012

Fingerprint

Smith-Lemli-Opitz Syndrome
Cholesterol
Neuronal Plasticity
Brain
Attention Deficit Disorder with Hyperactivity
Autistic Disorder
Risk-Taking
Lipid Metabolism
Research
Intellectual Disability
Psychiatry
Sleep
Language
Phenotype
Mutation
Wounds and Injuries
Therapeutics

Keywords

  • Affect dysregulation
  • Autism
  • Behavioral response to cholesterol supplementation
  • Hyperactivity
  • Intellectual disability
  • Language deficits
  • Motor deficits
  • Opisthokinesis
  • Self-injury behavior
  • Sensory hypersensitivity
  • Sleep disturbances
  • Suicidal risk

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Cognitive and behavioral aspects of Smith-Lemli-Opitz syndrome. / Diaz-Stransky, Andrea; Tierney, Elaine.

In: American Journal of Medical Genetics, Part A, Vol. 160 C, No. 4, 15.11.2012, p. 295-300.

Research output: Contribution to journalArticle

@article{5891666216604384958c1d6506ab997e,
title = "Cognitive and behavioral aspects of Smith-Lemli-Opitz syndrome",
abstract = "The brain's high concentrations of cholesterol make it especially vulnerable to the cholesterol biosynthetic defect that characterizes Smith-Lemli-Opitz syndrome (SLOS). An attempt to characterize the cognitive and behavioral phenotype of SLOS has identified increased rates of intellectual disability, language and motor developmental delay, repeated self-injury behaviors, sensory hyperreactivity, hyperactivity, affect dysregulation, and sleep disturbances. Some research has suggested that carriers of the gene mutation that results in SLOS display increased risk of suicidal behavior. Cholesterol dysregulation impairs neuroplasticity, which may be a mechanism underlying some of the mentioned abnormalities. Discrete positive effects have been reported with the use of cholesterol supplementation in the treatment of SLOS. Research has been limited by the small number of subjects available, and a limited understanding of lipid metabolism in the brain. Hopefully future research will help clarify the role that cholesterol plays in cognitive and behavioral abnormalities like the ones associated with SLOS. This would accelerate the development of treatments for SLOS, and perhaps also further understanding of non-syndromic psychiatric disorders such as autism and attention deficit hyperactivity disorder.",
keywords = "Affect dysregulation, Autism, Behavioral response to cholesterol supplementation, Hyperactivity, Intellectual disability, Language deficits, Motor deficits, Opisthokinesis, Self-injury behavior, Sensory hypersensitivity, Sleep disturbances, Suicidal risk",
author = "Andrea Diaz-Stransky and Elaine Tierney",
year = "2012",
month = "11",
day = "15",
doi = "10.1002/ajmg.c.31342",
language = "English (US)",
volume = "160 C",
pages = "295--300",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "4",

}

TY - JOUR

T1 - Cognitive and behavioral aspects of Smith-Lemli-Opitz syndrome

AU - Diaz-Stransky, Andrea

AU - Tierney, Elaine

PY - 2012/11/15

Y1 - 2012/11/15

N2 - The brain's high concentrations of cholesterol make it especially vulnerable to the cholesterol biosynthetic defect that characterizes Smith-Lemli-Opitz syndrome (SLOS). An attempt to characterize the cognitive and behavioral phenotype of SLOS has identified increased rates of intellectual disability, language and motor developmental delay, repeated self-injury behaviors, sensory hyperreactivity, hyperactivity, affect dysregulation, and sleep disturbances. Some research has suggested that carriers of the gene mutation that results in SLOS display increased risk of suicidal behavior. Cholesterol dysregulation impairs neuroplasticity, which may be a mechanism underlying some of the mentioned abnormalities. Discrete positive effects have been reported with the use of cholesterol supplementation in the treatment of SLOS. Research has been limited by the small number of subjects available, and a limited understanding of lipid metabolism in the brain. Hopefully future research will help clarify the role that cholesterol plays in cognitive and behavioral abnormalities like the ones associated with SLOS. This would accelerate the development of treatments for SLOS, and perhaps also further understanding of non-syndromic psychiatric disorders such as autism and attention deficit hyperactivity disorder.

AB - The brain's high concentrations of cholesterol make it especially vulnerable to the cholesterol biosynthetic defect that characterizes Smith-Lemli-Opitz syndrome (SLOS). An attempt to characterize the cognitive and behavioral phenotype of SLOS has identified increased rates of intellectual disability, language and motor developmental delay, repeated self-injury behaviors, sensory hyperreactivity, hyperactivity, affect dysregulation, and sleep disturbances. Some research has suggested that carriers of the gene mutation that results in SLOS display increased risk of suicidal behavior. Cholesterol dysregulation impairs neuroplasticity, which may be a mechanism underlying some of the mentioned abnormalities. Discrete positive effects have been reported with the use of cholesterol supplementation in the treatment of SLOS. Research has been limited by the small number of subjects available, and a limited understanding of lipid metabolism in the brain. Hopefully future research will help clarify the role that cholesterol plays in cognitive and behavioral abnormalities like the ones associated with SLOS. This would accelerate the development of treatments for SLOS, and perhaps also further understanding of non-syndromic psychiatric disorders such as autism and attention deficit hyperactivity disorder.

KW - Affect dysregulation

KW - Autism

KW - Behavioral response to cholesterol supplementation

KW - Hyperactivity

KW - Intellectual disability

KW - Language deficits

KW - Motor deficits

KW - Opisthokinesis

KW - Self-injury behavior

KW - Sensory hypersensitivity

KW - Sleep disturbances

KW - Suicidal risk

UR - http://www.scopus.com/inward/record.url?scp=84867908298&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84867908298&partnerID=8YFLogxK

U2 - 10.1002/ajmg.c.31342

DO - 10.1002/ajmg.c.31342

M3 - Article

C2 - 23042585

AN - SCOPUS:84867908298

VL - 160 C

SP - 295

EP - 300

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 4

ER -