Aurora magazine

A study by the University of California San Diego School of Medicine confirms: new autism diagnoses are reliable. When performed by specialized professionals, they can detect the first symptoms when the child is only 14 months old.

This makes it possible to intervene earlier and confirms that autism arises in the prenatal age. According to several studies, autism develops in the first or second trimester of pregnancy. The first symptoms would also be visible within the first year of life, although often overlooked. Yet, an early diagnosis could improve treatments incisively. It would be enough to teach parents what the alarm bells are, so that they can turn to experts without wasting time.

The authors of this study tested this approach, especially to understand when it is possible to talk about a definitive diagnosis. They analyzed 1269 newborns, 441 with spectrum disorders and 828 no. The children had received the first diagnosis between 12 and 36 months of age, with different outcomes. Among 12-13 month olds there was a high rate of misdiagnosis, both in one sense and in another. Some apparently autistic children have turned out to be healthy and vice versa.

The diagnoses performed starting from the 14th month of life, on the other hand, turned out to be almost certain. This means that a professional can diagnose a case of autism in the first year of life or in any case soon after.

Source: ucsd.edu

Climate change is changing us in many ways, perhaps even in terms of fertility. The proof is an international study that analyzed how we are adapting to the changing planet. The climate is changing our economy, food and even the number of children we do. Does the phenomenon have only social or even biological reasons?

The study was published in Environmental Research Letters. Inside, the authors analyze various fertility issues: infant mortality, longevity, gender gap. They used a quantitative model combined with economic and demographic data. To make the study more reliable, they took as an example two existing countries and their economies: Colombia and Switzerland. In particular, they focused on how climate change changed their demographics.

The model prepared by the team follows some individuals from childhood to adulthood, all in a disarranging ecosystem. In the model, we see how climate change affects agriculture, with disastrous results especially in the poorest countries. Parents must therefore decide how to manage declining resources in order to survive and guarantee a decent life for their children. Based on the decisions taken, the future of the offspring changes.

The results of the analysis have been disheartening from all points of view. According to scientists, the gradual decline in resources could cause a decline both in the upbringing of children in their numbers. This means that there will be fewer and fewer children and that there will probably be more and more differences between rich and poor countries.

Source: phys.org

Survivors of sudden cardiac arrest should take a genetic test to reduce the risk of other episodes. A Swiss study published in the American Journal of Cardiology proves this. Sudden heart attacks are caused by an irregular heart rhythm that destroys the organ's functions.

The sudden loss of functions leads to loss of consciousness and, in most cases, to death. However, if action is taken immediately, it is possible that the person survives. In these cases, it is important to prevent the phenomenon from happening again. The researchers examined 60 patients who survived sudden heart attacks, average age of 34 years. None of them suffered from coronary heart disease at the time of heart attack. Yet, genetic testing revealed abnormalities related to heart disease in two-thirds of them. This could expose them to new problems and a second heart attack.

The team analyzed relevant variants in 185 genes. 32 pathogenic variants emerged in 27 patients, not all with clear cardiac phenotypes. In fact, only 17 had an identifiable cardiac phenotype. Among these, 12 had mutations related to cardiomyopathies and 4 to canalopathies.

Simply put, 16 patients had genetic mutations related to cardiovascular disease. And the others? Of those analyzed, 10 patients did not have a clear cardiac phenotype. Nevertheless, 6 of them were carriers of a mutation in the cardiac ion channel genes. This could explain their heart attack, but the other 4 cases are still unclear.

Source: medtechdive.com

The adult polycystic kidney disease is a genetic disease that affects about 1 in 1000 people. In many cases, it damages the kidneys to the point of making them unused. As a result, the patient is forced to spend the rest of his life on dialysis. Researchers at the Mario Negri Institute may have found an alternative solution, however. It appears that the octreotide drug slows cyst development and allows the kidneys to function longer.

The researchers involved 100 patients in a study called "Aladin 2", all with impaired kidney function. Half of them received octreotide once a month for 3 years, half received a placebo to act as a control group. Patients in the first group showed clear improvements over those in the second.

The drug slowed cyst growth and preserved part of the kidney function. This has reduced the need for dialysis, even in cases with severe kidney damage. It has not eliminated the damage already present, but at least has reduced the development of new ones. The hope is to be able to use the drug to prevent kidney failure, saving dialysis on patients identified in time. The study represents a big step forward compared to standard treatments.

Today, secondary disorders of the polycystic kidney are mainly dealt with, such as arterial hypertension and metabolic alterations. Unfortunately, there were no ways to slow or stop the development of cysts. It seems that things are changing.

Source: corriere.it