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Autism Vox

August 14th, 2008

Genetic Predispositions and Environmental Triggers

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

Nature-Nurture Gene?

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

Genes, Music, and Practice Makes Perfect

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

An Evolving Understanding: New Study About Autism Genes

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

Last Week’s Top Posts: Thoughts on Traveling and Take Care of Yourselves

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

More on Genetics and Autism

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

Genetic Cause for Childhood Absence Epilepsy Identified

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

Repression and Activation of the MeCP2 Gene and Rett Syndrome

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

Genes and Brain Growth

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 Contactin 4 and Autism

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