Studies have shown that Autism Spectrum Disorder (ASD) is a risk factor for cardiovascular disease. This neurodevelopmental disorder is estimated to affect one in 54 children in the US. It is also considered one of the most complex heritable conditions with thousands of gene variants that are both rare and common, making it challenging to understand in the genetic and environmental sense.
According to Medical Xpress, doctors at Kennedy Institute recommend that children with ASD receive screening to test their cholesterol levels at least once during childhood.
Importance of Cholesterol Screening in Children With ASD
The study, titled "Sterol and Lipid Analyses Identifies Hypolipidemia and Apolipoprotein Disorders in Autism Associated With Adaptive Functioning Deficits," published in Translational Psychiatry, showed the link between ASD and cholesterol.
The study showed that children with ASD have reduced levels of high-density lipoprotein cholesterol (HDL-C) or good cholesterol. Also, it revealed that they have reduced or elevated levels of other lipids, such as apolipoprotein A1 (ApoA1) and apolipoprotein B (ApoB). ASD individuals with low levels of HDL-C and ApoA1 are found to have lower adaptive functioning compared to other people with ASD.
Dr. Elaine Tierney, a child and adolescent psychiatrist at Kennedy Krieger Institute, said that their study is the latest research part of their ongoing work that aims to understand some of the comorbidities with ASD. She added that the study showed that individuals with ASD have abnormal levels of lipids, adding to the evidence that ASD has an increased risk of developing cardiovascular diseases.
Before this current study, Dr. Tierney and colleagues found that the genetic condition that impaired cholesterol synthesis called Smith-Lemli-Opitz Syndrome (SLOS) is associated with autism. Also, their 2007 study has led to the recommendation of screening individuals with ASD to check for SLOS if they exhibit slow growth, microcephaly, mental retardation, and other birth defects.
Researchers hope that their latest research highlights the importance of cholesterol screening and raises awareness for children with ASD. Now, they are performing genome sequencing analyses to determine lipid-related genetic alterations in patients with ASD s an extension of their study.
Cholesterol in ASD
A separate study from researchers at Harvard Medical School, Massachusetts Institute of Technology (MIT), and Northwestern University revealed that a subtype of ASD is associated with a cluster of genes responsible for regulating cholesterol metabolism and brain development.
According to the press release from Harvard, the findings can inform the design of therapies for this specific type of ASD and improve screening efforts to diagnose people earlier. The findings of their study also raised questions as to how lipid alterations drive neurodevelopmental dysfunction.
The senior author of the study Isaac Kohane from Harvard Medical School said that the study's results showed the complexity of autism and how it encompasses other conditions that may arise due to genetics, environment, or both factors. Recognizing the cause of the dysfunction is critical in designing new treatments and screening tools for a timely diagnosis.
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