Aurora magazine

A team from the University of North Carolina has developed a method to diagnose autism in the first year of life. The researchers predicted the onset of the disease in high-risk 8 out of 10 children, all under the age of 2 years. The first results are exceptional, but further studies will be needed to confirm the value.

It is estimated that autism is diagnosed in 1 child out of 160 in the world. Most at risk are children with a close relative suffering from autism. It is estimated that a child with an autistic brother will have greater probability of 1 to 5, in turn, be autistic. Despite the increased attention placed on high-risk subjects, seldom can be diagnosed before 2 years of the child's life. It is only at this age that any behavioral abnormalities begin to become apparent. Moreover, when there is neither a cause unique and specific genetic biomarkers for the disorder. The study aims to anticipate the diagnosis, so as to put in place immediately the most effective treatments.

Joseph Piven, who heads the team, studied since the 90 MRIs of the brains of high-risk children. Children with autism have a larger brain than the average, but it is not known when begin the abnormal growth. The researchers then periodically scanned the brains of 106 children at high risk and 42 low-risk children. To compare the two groups of images, they used a machine learning algorithm. The method allowed them to diagnose autism in 8 cases out of 10.
Resonances showed abnormalities in the cortical surface of the brain of autistic children. These are extras anomalies between 6 and 12 months of age, before the onset of symptoms. The discovery could have important clinical implications, even if you need more confirmations. We should also see if the new diagnostic method is applicable only to those at high risk or to all children.

Source: wired.it

A Spanish woman of 64 years has given birth to twins. The children, born Recoletas Hospital by Caesarean section, are perfectly healthy. This is the second pregnancy of the woman in the space of six years and also the first had been successful. According to doctors is exceptional, but both pregnancies have raised controversy because of the age of the woman.

The new mother has undergone in vitro fertilization in the United States for both pregnancies. Despite his age and the difficulty of completing a twin pregnancy, the operation was successful and the woman is presented to the Hospital Recoletas already 4 months pregnant. The structure has therefore put at its disposal a team of two gynecologists, two pediatricians, two midwives and some nurses. The professionals have followed for the duration of pregnancy until delivery, as they had done for the first daughter. The twins are so born without any health problems.

Spanish law does not set a maximum age until which resort to artificial insemination. Despite this, many doctors expressed concern about the possibility of access to the file after 50 years. With increasing age, in fact, increase the risk to the health of mother and child. Data that make it essential for appropriate prenatal screening test, so as to ascertain the condition of the fetus.

The Spanish case was exceptional, but the record belongs to an Indian woman. Daljinder Kaur and her husband Mohinder Singh Gill have become parents for the first time at the age of 70 to 79 years, after nearly 50 years of marriage. The woman was subjected to assisted reproduction and at all levels of prenatal screening tests necessary to ensure the health of the child.

Source: cbsnews.com

It will be male or female? According to a study by the University of Ohio State, the response would affect the health of the expectant mother. In fact it highlights how the female body reacts to bacterial attacks differently depending on the sex of the child.

The researchers followed 80 pregnant women, by measuring the levels of immune cells. The analyzes showed identical levels both in cases of female fetus and in those of the male fetus. They then took a sample of immune cells and exposed them to the bacteria. Depending on the sex of the child, they have reacted to the attack differently.

The immune cells of pregnant women to a female have more inflammatory cytokines produced. The phenomenon is related to a more violent inflammatory reaction when compared to that of pregnant women to a male. This could result in excessive stress to the body and increase the feeling of tiredness and fatigue. It could also exacerbate the reactions to some drug treatments. The discovery, however, needs further study. When a woman is pregnant she should also take care of the baby's future health. For this reason a balanced diet and regular physical activity can make a difference. Doctors recommend to undergo regular medical examinations: prenatal screening tests such as fetal DNA tests are useful to monitor the baby's health.

Source: eurekalert.org

The National Academy of Sciences (NAS) and the National Academy of Medicine (NAM) have released the first international guidelines regarding the genome editing. The document relates to the manipulation of DNA in gametes and embryos in the early stages of development, for the time being prohibited. With the development of gene editing techniques, however, it becomes increasingly likely a future application also to the germ lines.

Techniques such as CRISPR made the editing of the genome more accurate and less expensive. This has opened new opportunities both in research and in the clinical setting. For the moment, however, the applications are limited to non-germline tissues, which then only touch the patient. The application on germline tissues, however, would make the changes inheritable, and would affect future generations. The event has raised and raises many questions of a scientific nature and ethics, which is why NAS and NAM have gathered a team of experts that their evaluation of the consequences.

The document supports the application of gene editing to the treatment and prevention of serious disease and disability. In the case of modifications of the germ cells, however, it highlights the risks of a drift eugenics and unpredictable consequences on future generations. Further studies are indeed needed to understand and quantify the risk of introducing new genetic anomalies by mistake. On the other hand, the genome editing may delete a large number of genetic diseases that are incurable today.

For the moment the genetic editing of germ cells is prohibited in both the US and in our country. In Italy exception couples silent carriers of healthy genetic diseases, which can also access prenatal screening test prior to implantation of the embryo. In case of change of the rules, the guidelines recommend a set of criteria before allowing editing of germ cells. Some of these are:
• no valid alternatives;
• application only to genes associated with severe disease;
• disclosure of preclinical and clinical data indicating the risks and benefits;
• monitoring of the parties involved and their children.
Source: osservatoriomalattierare.it