In search of meaningful copy number variations
In the past few months, researchers have published dozens of reports linking single-nucleotide polymorphisms (SNPs) with susceptibility to a range of common diseases.
Expert opinions on trends and controversies in autism research.
In the past few months, researchers have published dozens of reports linking single-nucleotide polymorphisms (SNPs) with susceptibility to a range of common diseases.
It took 50 years for scientists to develop instruments reliable enough to be considered the gold standards for diagnosing autism. Autism has always been around, but it was not until the mid-1940s that Leo Kanner in the United States and Hans Asperger in Austria, both physicians, independently described children with what we now recognize as autism.
In 1985, Simon Baron-Cohen, Alan Leslie and Uta Frith reported for the first time that children with autism systematically fail the false belief task.
Autism is caused by poor parenting, particularly by ‘frigid’ mothers who reject their children. Such a statement would seem bizarre today. But 30 years ago parents, especially mothers, were blamed for their childrenʼs autism. But then in 1977, one study, published in the Journal of Child Psychology and Psychiatry, single-handedly turned the field around to recognize the importance of genetics.
Huda Zoghbi and her colleagues painstakingly sequenced the candidate genes for Rett syndrome, culminating in the 1999 Nature Genetics report that pinpointed six de novo mutations in the MeCP2 gene as the cause of the disorder.
Donald T. was not like other 5-year-old boys. Leo Kanner knew that the moment he read the 33-page letter from Donaldʼs father that described the boy in obsessive detail as “happiest when he was alone… drawing into a shell and living within himself… oblivious to everything around him.”