Two independent teams have discovered key molecular steps in the way a single gene disrupts the connections between neurons in individuals with Angelman syndrome. Because the gene, UBE3A, has also been linked to autism, the findings could help scientists understand and treat a range of neurodevelopmental disorders.
Attention deficit hyperactivity disorder (ADHD) and autism may have more in common than childhood onset and a few similar symptoms. New research suggests the conditions share genetic roots.
Several studies in the past year in people, mice and honeybees have tied autism to a protein that helps neurons communicate. Problems with the protein, neurexin 1, are associated with a wide range of autistic behaviors, such as impaired social interactions, anxiety and problems with learning and memory.
Toddlers with autism pay less attention to faces than do healthy controls, but both groups give equal attention to objects, according to a study published in the Archives of General Psychiatry. The findings challenge the idea that individuals with autism have a generalized problem with attention, suggesting instead that they struggle with attending specifically to social stimuli, researchers say.
Random changes in gene expression can cause genetically identical embryos to develop different traits, according to a study of worms published in Nature. The findings suggest that haphazard movements of molecules could partly explain why autism-associated mutations don’t always cause the same symptoms.
The protein that is mutated in Rett syndrome controls the expression of other genes by changing the way DNA packs into a cell, rather than turning genes on or off, according to a study published in Molecular Cell.
At 6 months of age, babies who will later develop autism begin to lose some of their social skills and continue to regress until age 3, according to a study published in the Journal of the American Academy of Child & Adolescent Psychiatry.
Scientists have identified distinct blood signatures of cytokines — proteins that control communication between cells of the immune system — in individuals with fragile X syndrome and autism.
Young mouse models of fragile X syndrome show a significant lag in the development of synapses, the connections between neurons, according to a study published in Neuron. The findings suggest that a similar mistiming may be responsible for the sensory problems — such as hypersensitivity to touch and sound — sometimes seen in people with fragile X syndrome.
Scientists have unveiled the first two comprehensive maps of the human epigenome, the set of chemical changes that affect gene expression without altering the underlying DNA code. Pinpointing epigenetic differences between healthy and diseased cells could reveal the roots of many conditions, including autism.