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Abstract
An improved understanding of sterol and lipid abnormalities in individuals with autism spectrum disorder (ASD) could lead to personalized treatment approaches. Toward this end, in blood, we identified reduced synthesis of cholesterol in families with ≥2 children with ASD participating with the Autism Genetic Resource Exchange (AGRE), as well as reduced amounts of high-density lipoprotein cholesterol (HDL), apolipoprotein A1 (ApoA1) and apolipoprotein B (ApoB), with 19.9% of the subjects presenting with apolipoprotein patterns similar to hypolipidemic clinical syndromes and 30% with either or both ApoA1 and ApoB less than the fifth centile. Subjects with levels less than the fifth centile of HDL or ApoA1 or ApoA1 + ApoB had lower adaptive functioning than other individuals with ASD, and hypocholesterolemic subjects had apolipoprotein deficits significantly divergent from either typically developing individuals participating in National Institutes of Health or the National Health and Nutrition Examination Survey III.
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1 Kennedy Krieger Institute, Baltimore, USA (GRID:grid.240023.7) (ISNI:0000 0004 0427 667X); Johns Hopkins University School of Medicine, Department of Psychiatry and Behavioral Sciences, Baltimore, USA (GRID:grid.21107.35) (ISNI:0000 0001 2171 9311)
2 National Heart, Lung, and Blood Institute, Cardiovascular and Pulmonary Branch, Bethesda, USA (GRID:grid.279885.9) (ISNI:0000 0001 2293 4638)
3 National Institute of Mental Health, Neurodevelopmental and Behavioral Phenotyping Service, Office of the Clinical Director, Bethesda, USA (GRID:grid.416868.5) (ISNI:0000 0004 0464 0574)
4 Johns Hopkins Bloomberg School of Public Health, Department of Biostatistics, Baltimore, USA (GRID:grid.21107.35) (ISNI:0000 0001 2171 9311)
5 Eunice Kennedy Shriver National Institute of Child Health and Human Development, Division of Intramural Research, Bethesda, USA (GRID:grid.420089.7) (ISNI:0000 0000 9635 8082)
6 Kennedy Krieger Institute, Baltimore, USA (GRID:grid.240023.7) (ISNI:0000 0004 0427 667X)
7 National Human Genome Research Institute Baltimore, Computational Statistical Genomics Branch, Baltimore, USA (GRID:grid.240023.7)
8 Kennedy Krieger Institute, Baltimore, USA (GRID:grid.240023.7) (ISNI:0000 0004 0427 667X); University of Alabama at Birmingham, Department of Psychiatry, Birmingham, USA (GRID:grid.265892.2) (ISNI:0000000106344187)
9 Kennedy Krieger Institute, Baltimore, USA (GRID:grid.240023.7) (ISNI:0000 0004 0427 667X); Therapeutic Superventions, Inc., Dayton, USA (GRID:grid.240023.7)