A small clinical trial at the Seaver Autism Center at Mount Sinai aims to test whether an existing drug, the growth factor IGF-1, will help treat some of the core symptoms of autism in children with a specific genetic mutation.
In a study of people missing an autism-linked region on chromosome 22, researchers have found that the larger the deletion, the more likely the individual is to have severe symptoms, from motor and speech delays to a large head and fleshy hands.
The ever-curious and energetic Ricardo Dolmetsch is taking skin cells from individuals with various types of autism and turning them into neurons in the lab. The approach could reveal the cellular basis of the disorder and point to new treatments.
Researchers have identified hundreds of previously unknown connections between proteins involved in autism spectrum disorders, according to a report published last week in Science Translational Medicine.
Mice with a mutation in SHANK3, a leading autism candidate gene, show moderate social defects, including less-than-normal interest in other mice. The findings, published 27 May in Cell, suggest that mutations in different sites on the gene can lead to different behaviors. This paper was retracted on 17 January 2013. Associate director of research Alan Packer discusses the implications of the retraction here.
Genetic syndromes associated with autism are increasingly being diagnosed in utero because of techniques that can identify subtle mutations in the genome. But the technology is ahead of the ethical debate on whether and how to inform parents about mutations with unknown effects.
Researchers have created a mouse carrying a deletion in SHANK3, an autism candidate gene, they reported yesterday in Nature. This is the second model of SHANK3 mutations but shows markedly more behavioral and brain defects compared with the first.
The first international meeting on Phelan-McDermid syndrome brought together researchers and family members of those affected by the disorder, sparking collaboration and some emotion.