August 14th, 2008
In the ongoing chicken and egg type debate over what the causes of autism might be, how often have you it said that it’s believed that a child may have a “genetic predisposition” to autism, but that it’s an “environmental trigger”—-it’s something in the environment—-that leads to a child “having autism”?
An August 13th post on […]
By Kristina Chew, PhD -- 27 comments
July 20th, 2008
As a parent, when I see the phrase “nature-nurture,” I get a bit stuck on the “nurture” word, as any suggestion that we didn’t provide the right emotional, social, and so forth “environment” for Charlie and did not provide enough “nurture” can lead a parent to think of the discredited “refrigerator mother” theory of autism. […]
By Kristina Chew, PhD -- 9 comments
July 12th, 2008
Today’s Scientific American reviews the new study about autism genes in 88 Middle Eastern families and emphasizes that the genes found are “linked to a heightened risk of autism” and, too, that these genes are crucial to a child’s ability to learn.” Noting that marrying second and third, and even first, cousins is not […]
By Kristina Chew, PhD -- 6 comments
July 10th, 2008
By analyzing the genes of 88 families from the Middle East, Turkey and Pakistan in which cousins married and had autistic children, researchers have found clues to the neural impairments associated with autism. While researchers found multiple genetic causes for autism in different individuals, a few inherited deletions that have been linked to autism stood […]
By Kristina Chew, PhD -- 17 comments
June 29th, 2008
I suppose it’s not surprising that the story of an autistic toddler and his mother being removed from an airplane got so much attention last week. Airplane is travel is neither so friendly nor so fun (or affordable) for anyone these days. The story of Jarret Farrell really home with me because, a couple of […]
By Kristina Chew, PhD -- 0 comments
June 27th, 2008
The latest issue of Nature Genetics opens with an editorial entitled All in the mind about recent discoveries of de novo mutations in some cases of autism and schizophrenia. “Exceptional rigor and caution” are called for in the search for “causative variants”:
If many genes can be perturbed to produce a related set of psychiatric phenotypes, […]
By Kristina Chew, PhD -- 3 comments
June 2nd, 2008
More genetics news today: Researchers have identified the mutated gene that causes childhood absence epilepsy (CAE).
The seizures of childhood absence epilepsy (CAE) are usually staring spells during which the child is not aware or responsive. The child’s eyes may roll up briefly. Each spell lasts about 10 seconds and ends abruptly. The child often is […]
By Kristina Chew, PhD -- 9 comments
June 2nd, 2008
Mutations in the MeCP2 gene are known to cause Rett Syndrome, which causes impairments in language and cognitive and fine motor skills; according to the International Rett’s Syndrome Foundation, Rett Syndrome is often misdiagnosed as autism. Scientists have previously thought that the MeCP2 gene repressed other genes—switching them “off”; a study published in the June […]
By Kristina Chew, PhD -- 2 comments
April 12th, 2008
Charlie has always had a big head—-this was apparent from the first time I saw his ultrasound image. It’s only been from looking over his baby and toddler photos that we’ve noted that, until he was around 5 or so, the top part of his head was really big. We always had to buy him […]
By Kristina Chew, PhD -- 6 comments
March 19th, 2008
Disruptions in the gene contactin 4—which helps the brain make connections—can stop the gene from working properly, and prevent from the brain from making networks, according to researchers in the Journal of Medical Genetics. The leader of the study, Dr. Eli Hatchwell of Stony Brook University Medical Center in New York, suggests that these disruptions—in […]
By Kristina Chew, PhD -- 13 comments
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