The Observatory

March 22, 2018
Autism Awareness April is Autism Awareness Month. Following are some key statistics about a disorder that the American public has become increasingly aware of—and that medicine is understanding and treating more successfully than ever.

1 in 68
children in the United States have autism.

1 in 42
boys are diagnosed with autism.

1 in 189
girls are diagnosed with autism.

4 years old
is the average age of autism diagnosis.

6 months old
is the earliest that signs of autism in babies can be identified.

3.5 million
is the estimated number of people in the U.S. affected by autism spectrum disorder (ASD).

More than 80%
of people on the autism spectrum are children.

70 million
is the estimated number of people worldwide with ASD.

is the estimated percentage of people in the world with autism.

$60,000 per year
is the average cost for families affected by autism.

$236 to $262 billion
is the annual cost of autism services to Americans.

of children with ASD have average or above-average intelligence.

of people with autism are nonverbal.

30% to 50%
of people with autism also have seizures.

Is the known scientific link between vaccines and autism.


Autoimmune Disease

A weakened gut barrier may contribute to autoimmune disease. When the gut microbe Enterococcus gallinarum leaks out of the intestines and sets up camp in other organs such as the liver, it appears to trigger an autoimmune response similar to what’s seen in lupus, a new study in mice reveals. In humans, E. gallinarum was detected in the livers of lupus patients but not healthy controls, hinting at a potential cause for that autoimmune disease.

While studying mouse models of lupus, Yale University researcher Silvio Manfredo Vieira, PhD, and colleagues found that treatment with an antibiotic reduced mortality and secretion of lupus-related immune system proteins.That suggested that a type of bacteria may be exacerbating the disease. They fluorescently traced bacteria in the mice, detecting the presence of E. gallinarum in the lymph nodes, liver, and spleen.

Intriguingly, they found that E. gallinarum in these organs resulted in increased secretion of immune signals that are associated with autoimmunity in lupus patients, yet the presence of other types of bacteria in these organs did not induce such autoimmunity.

In human liver biopsies, they detected the presence of E. gallinarum in samples from lupus patients, but not in healthy controls. In addition, many liver samples from patients with autoimmune hepatitis were found to contain E. gallinarum. These results suggest that, if E. gallinarum manages to escape from the gut, it has the potential to trigger disease.

In a related Perspective, Sandra Citi, MD, PhD, of the University of Geneva (Switzerland), highlighted this study and a related one, providing more context on the mechanisms behind a leaky gut barrier and potential therapies to improve it. In a different study also evaluating the gut barrier, University of Pennsylvania microbiologist Christoph Thaiss and colleagues found that high blood sugar levels, as seen in diabetes and obesity, are associated with intestinal barrier dysfunction and susceptibility to infection in mice. Preliminary data supports this finding in humans as well. Together, these studies highlight the importance of a healthy gut barrier in preventing disease.


Unique inflammation patterns emerging in patients with type 1 diabetes. Analysis of the inflammation-promoting proteins in the blood of patients with type 1 diabetes and related kidney disease indicates that the promoters of inflammation are diverse even in the same medical condition and that patients probably would benefit from an anti-inflammatory treatment that directly targets theirs, scientists report.

Chronically high levels of glucose in type 1 diabetes appear to get the attention of the immune system, resulting in chronic inflammation that can destroy organs, nerves, and blood vessels. So Medical College of Georgia scientists looked at blood levels of a dozen mediators of inflammation in 89 patients with diabetes-related kidney disease as well as 483 patients without the kidney problems. The mediators’ presence in the bloodstream indicates they might be having an impact body-wide. Previous studies in similar patients have assessed one or only a handful of these mediators.

The new, more comprehensive assessment of a dozen mediators found that 10 were elevated in patients who had related kidney damage. But it was proteins in the TNF-alpha family and IL-6 that were significantly elevated in 40 percent of these patients, compared to those with well-functioning kidneys. Another 40 percent of patients had moderately elevated levels of these mediators, indicating that they might not be the strongest treatment target for that second group.

Blood levels of these inflammatory mediators may provide biomarkers for predicting who has or who will likely get diabetes-related kidney disease. They also could help assess the
effectiveness of treatment or prevention strategies.

Two classic inflammatory markers regularly measured in hospitals, C-reactive protein and serum amyloid A, did not appear to be significant players in these patients, according to the

Infectious Diseases

CRISPR/Cas9 technique suppresses malaria infection in mosquitoes. Using the gene editing technique CRISPR/Cas9, scientists have shown that inactivating the gene FREP1 (fibrinogen-related protein 1) reduces mosquitos’ susceptibility to infection with Plasmodium, a genus of parasites that causes malaria in humans. George Dimopoulos, PhD, and colleagues at Johns Hopkins University recently presented those findings in PLOS Pathogens.

Inside an Anopheles gambiae mosquito, Plasmodium undergoes a series of infection steps before reaching the mosquito’s salivary gland, from which it spreads to bitten humans. This infection cycle relies on the activity of several mosquito proteins. Recently developed CRISPR/Cas9 tools offer new opportunities to study these proteins and determine whether they can be targeted to block malaria transmission.

Dimopoulos’s team had previously identified and examined several mosquito proteins involved in Plasmodium infection, including FREP1. A vaccine candidate based on targeting FREP1 was recently developed, but Dimopoulos’ group took a different approach. They used a CRISPR/Cas9 technique to inactivate the FREP1 gene in A. gambiae mosquitos and explore the effects on malaria parasite infection.

The team found that FREP1 inactivation via CRISPR/Cas9 significantly suppressed infection of the mosquitos with both human and rodent Plasmodium parasites. This supports a potential for CRISPR/Cas9 technology in altering the genomes of wild mosquito populations to prevent the spread of malaria, which kills nearly 500,000 people worldwide every year.

However, the permanent inactivation of FREP1 in all mosquito stages and tissues also resulted in fitness costs for the mosquitos, including reduced blood-feeding ability, lower fertility, a lower egg hatching rate, slowed development, and reduced longevity after feeding on blood. This raises concerns that mosquitos with permanently inactivated FREP1 would not be able to compete with non-mutant mosquitos in the wild effectively enough to block malaria transmission. The investigators are now exploring ways to inactivate FREP1 in the gut of adult female mosquitoes only, with the hope of reducing the fitness cost while retaining resistance to the malaria parasite.

In any case, the findings highlight the potential for CRISPR/Cas9 gene editing techniques to inactivate parasite host factors and improve understanding of malaria. Further research could also explore strategies to enable mosquitos with inactivated FREP1 to successfully compete with non-mutants.

Vitamin D

Vitamin D may help prevent heart failure after heart attack. New research has shown how vitamin D may help protect tissue and prevent heart failure after a heart attack, potentially offering a low-cost addition to existing treatments for heart failure. A team at the Westmead Institute for Medical Research found that vitamin D prevents excessive scarring and thickening of heart tissue following a myocardial infarction.

Researchers used mouse models to investigate the impact of 1,25D, a form of vitamin D that interacts with hormones, on the cells that form scar tissue after a heart attack. These cells are called cardiac colony-forming unit fibroblasts (cCFU-Fs).

Lead researcher James Chong, PhD, says that vitamin D was known to help protect against heart failure, but its interaction with cCFU-Fs was not well established. “We still don’t fully understand how mechanistically vitamin D can help with heart disease management,” Chong explains. “We wanted to know more about how it protects the heart after a heart attack.”

Heart attacks occur when blood supply to the heart is blocked, leading to tissue damage. This triggers an inflammatory response where the cCFU-Fs replace the damaged tissue with collagen-based scar tissue.

“This is a problem because scarring of heart tissue can reduce the heart’s ability to pump blood effectively, which can lead to heart failure,” Chong says.

“Our research shows that vitamin D actually blocks the cCFU-Fs from forming scar tissue. By blocking cCFU-Fs, vitamin D may play an important role in lowering the risk of heart failure. This study is the first to demonstrate the role of 1,25D in regulating cardiac progenitor cells, and the findings are encouraging.”

Antibiotic Resistance

No progress seen in reducing antibiotics among outpatients. Despite aggressive public health campaigns aimed at reducing unnecessary prescriptions for antibiotics, the drugs continue to be prescribed at high rates in outpatient settings such as clinics and physician offices, according to a new study by researchers at Washington University School of Medicine in St. Louis. The study was published March 8 in the journal Infection Control & Hospital Epidemiology.

The researchers analyzed de-identified data from Express Scripts Holding Co., which manages drug benefits for employers, and found that 98 million outpatient antibiotic prescriptions were filled by 39 million people during a three-year period from 2013 to 2015. Moreover, the researchers found no decline in the overall antibiotic prescription rate during that time.

“This study suggests that current guidelines on prescribing antibiotics are not being followed,” says the study’s first author, Michael Durkin, MD. “If they were, we would have seen an overall decrease in antibiotic prescribing rates over time. This is concerning because the overuse of antibiotics is costly and contributes to the rise of drug-resistant superbugs.”

The data tracked monthly prescription rates for all antibiotics, including the five that are prescribed most often in outpatient settings: azithromycin, amoxicillin, amoxicillin/clavulanate, ciprofloxacin, and cephalexin.

The average number of antibiotic prescriptions per 1,000 beneficiaries was 826 per year. The researchers noted that there was a slight decrease in such rates in 2014, followed by a slight increase in 2015. Overall, the fluctuations were not statistically significant.