Autistic people with a rare genetic mutation tend to have a lower QI. This is what emerges from a study led by Matthew Jensen of the State University of Pennsylvania.

About 40% of those who suffer from condition also have intellectual disabilities. It is therefore difficult to distinguish autogenous genes from those that influence intelligence. Researchers were looking for genetic mutations of the genus common to people with autism. They have thus identified a common anomaly in these patients, but rare in other people.

Jensen and colleagues measured the intellectual quotient and made the DNA test of 2,300 autistic children. Of these, approximately 288 had a genetic mutation at the level of a single letter, not present in parents or brothers. In addition, 81 were devoid of a large piece of DNA. Children with these mutations had a much lower intellectual intellect than average.

Among the examined children, 397 had an intellectual rating above the average. The DNA test showed that almost none of them had the mutations in question. In addition, many of them did not even have the genetic mutations most commonly associated with autism. This means that these anomalies may cause a more severe form of autism, linked to intellectional deficits.

The discovery confirms the results of some previous studies, including one of 2014 conducted by Professor Mark Daly. The study showed that autistic children with low QI had a higher rate of genetic mutations.

Source: spectrumnews.org

Angelman's syndrome is a genetic disease that affects the central nervous system. It causes serious delays in development and permanent neurological damage. Children who suffer from it seem healthy at birth and the disease manifests in the 6 to 12 months.

At first, the baby suffering from Angelman's syndrome shows feeding problems and developmental delays. Between 2 and 3 years, the first epileptic seizures often occur. The child is hyperactive, with a low threshold of attention. Problems with him also in adulthood, sometimes accompanied by an abnormal curvature of the spine. Despite all these problems, Angelman sufferers have an average life expectancy.

The disease is caused by a defect in the maternal copy of the UBE3A gene. The gene contains information on a key enzyme for protein degradation. Its malfunction would be enough to cause the symptoms of the syndrome. In most cases, genetic abnormality is sporadic, but there are also cases of inheritance.

For the diagnosis, specific genetic tests are used to determine the presence or absence of chromosome abnormalities. Once the disease is confirmed, it is symptomatic. Epileptic attacks with specific drugs are monitored and physical and occupational activity is promoted. All this helps to improve the quality of life of patients.

Source: telethon.it

Professor Alanna Kulchak Rahm has analyzed the results of a 2016 study that involved 1,241 teenagers. The researchers asked the kids for their opinion about DNA testing for genetic disease diagnosis. Since many diseases only appear in adulthood, when should these tests be performed? Because? There have been several responses.

The boys had to choose the disease for which genetic testing exists, but it only occurs in adulthood. Their task was therefore to explain whether it would be best to test teenagers or wait to grow. About half of the respondents said DNA testing would be postponed until adulthood. It is the same opinion promoted by the American Society of Human Genetics (ASHG).

Secondly, the young protagonists of the study, there is a substantial difference between preventable diseases and untreatable diseases. In the case of ovarian cancer or other susceptible diseases, more than 50% believe that the test should be done as soon as possible. In the case of diseases such as Alzheimer or Huntington, more than 60% think it is preferable to postpone.

The researchers did not find significant links between the views of the boys and the demographic factors. They also tested the actual knowledge of the boys on the subject, including limitations and availability of genetic tests. The results will help to improve the availability of DNA testing available today.
Source: ashg.org