Pediatrics / Children's Health News

New Genetic Testing Confirms Diagnosis In Children With Weaver Syndrome, A Rare Genetic Disorder

Scientists have found a gene that causes Weaver syndrome, a rare genetic disorder that typically causes large size at birth, tall stature, developmental delay during childhood, and intellectual disability. Published in the American Journal of Human Genetics, the discovery means that testing the EZH2 gene for mutations could help families who are seeking a diagnosis for their child.

"For the families among whom we identified the gene, this discovery definitively brings the diagnostic odyssey to a close - it's DNA confirmation that their children have Weaver syndrome," says Dr. William Gibson, the study's lead investigator.

Glucocorticoids In Pregnancy And Offspring Pediatric Diseases

In a population-based cohort study, 65,085 mother-child pairs from the Danish National Birth Cohort were followed up in real time from early pregnancy into childhood. "Maternal use of inhaled glucocorticoids for asthma during pregnancy was not related to an increased risk of most diseases in childhood, except for endocrine and metabolic disorders, as compared to the risk in asthmatic mothers without glucocorticoid inhalation during pregnancy," said first author Marion Tegethoff, PhD, associate faculty member in clinical psychology and psychiatry at the University of Basel, Switzerland. "Our data are mostly reassuring and support the use of inhaled glucocorticoids during pregnancy."

How Dangerous Is The Internet?

How Dangerous Is The InternetFindings from the Swedish part of the European project EU Kids Online

Sweden has one of Europe's highest rates of Internet use among children. The increasing number of children online implies increasing opportunities - but also risks. Yet a majority of 9-16 year olds say that they have not encountered anything on the Internet that has bothered or upset them in the past year.

The Swedish part of the study EU Kids Online also found that most children feel safe doing things that adults often perceive as risky.


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