Cognitive and behavioral aspects of Smith-Lemli-Opitz syndrome

被引:27
作者
Diaz-Stransky, Andrea [1 ]
Tierney, Elaine [1 ]
机构
[1] Johns Hopkins Univ, Sch Med, Dept Psychiat & Behav Sci, Baltimore, MD 21218 USA
关键词
intellectual disability; language deficits; motor deficits; opisthokinesis; self-injury behavior; autism; hyperactivity; sensory hypersensitivity; affect dysregulation; sleep disturbances; suicidal risk; behavioral response to cholesterol supplementation; DEFECTIVE CHOLESTEROL-BIOSYNTHESIS; AUTISM SPECTRUM DISORDERS; SENSORY PROFILE; SLEEP PROBLEMS; CHILDREN; METABOLISM; PHENOTYPE; PERFORMANCE; GENE;
D O I
10.1002/ajmg.c.31342
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
The brain's high concentrations of cholesterol make it especially vulnerable to the cholesterol biosynthetic defect that characterizes SmithLemliOpitz 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. (C) 2012 Wiley Periodicals, Inc.
引用
收藏
页码:295 / 300
页数:6
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