Stories about: Genetics

Autism in the news

Can having children too close together increase the risk of autism?

A new study was released earlier this week, indicating that babies conceived within a year of their older sibling’s birth are at an increased risk of developing autism. The study looked at 662,730 pregnancies, paying close attention to babies conceived less than a year after the mother gave birth to another child. 3,137 of the second-born children had received a diagnosis of autism by the time they were 6 years old. 2,747 of those cases had birthdays less than 36 months after their older sibling.

Carolyn Bridgemohan, MD, of Children’s Hospital Boston’s Division of Developmental Medicine had this to say about the researchers’ findings.

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Kids with rare genetic disorder may be immune to racial biases

black and white kids handsA fascinating study conducted by CNN for its special “Black or White: Kids on Race” series revealed that many children have racial biases very early on in life. But imagine what it would be like to not be able to recognize— or care— that someone is different? Such is the case with Williams syndrome, a rare genetic disorder that leaves those affected by it free of fear in social situations. As one mother of a child with Williams syndrome said, to her daughter, “There’s no such thing as strangers, just friends she hasn’t met yet.”

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A better genetic test for developmental disabilities

David Miller, MD, PhD
David Miller, MD, PhD

Traditional genetic testing identifies chromosomal duplications or deletions in about 3 percent of children suffering from unexplained developmental disabilities. Now, using a cutting-edge tool called a chromosomal microarray, physicians can increase that number to about 15 percent – giving answers to potentially tens of thousands more children.

More than 3 percent of children are born with developmental disabilities that have no obvious cause. These children often baffle physicians because medical history and a physical exam are just not always enough to diagnose them. “When we see a patient, we go down our checklist of the usual suspects,” says David Miller, MD, PhD, clinical geneticist in the Division of Genetics at Children’s Hospital Boston. “If we get to a point where we still can’t put our finger on anything, that’s when we turn to this type of testing.”

There are hundreds of chromosome deletions or duplications that result in birth defects or developmental disabilities such as autism. By zeroing in on the exact cause, physicians may be able to determine which specialists need to be added to the team and how best to treat them.

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