Researchers have uncovered a rare, genetic form of autism caused by mutations that speed up the breakdown of certain amino acids. The findings, published 6 September in Science, suggest that nutritional supplements may alleviate symptoms of the disorder in people with these mutations.
Normal aging triggers dramatic changes to the epigenome, the set of chemical tags that turn genes on and off, according to a new study.
A genetic defect in the synthesis of carnitine, a molecule that is essential for proper mitochondrial function, might slightly increase risk for autism in some children, according to research published 8 May in the Proceedings of the National Academy of Sciences.
A biological signature in the blood could be used to aid the early diagnosis of schizophrenia, according to a study published 12 April in Molecular Psychiatry. The results suggest that various circulating immune molecules and metabolites reflect the biological changes that underlie neurological disorders.
Children with autism who suffer from severe gastrointestinal problems show markedly lower-than-normal levels of enzymes needed to digest complex sugars, and of transporters that allow simple sugars to be absorbed into the blood.
Screening for metabolic disorders in children with autism is not cost-effective, according to a study published 7 July in PLoS One. The researchers argue instead for careful individual clinical analysis.
Sequencing an individual’s entire genome may be the key to tailoring treatments for heterogeneous disorders, suggests a study published 15 June in Science Translational Medicine.
Taking prenatal vitamins for three months before conception and four weeks after could lower the risk of having a child with autism, particularly for women who carry certain genetic variants, according to a study published in the July issue of Epidemiology.
Children with autism have fewer DNA modifications that regulate gene expression compared with healthy siblings and controls, and show evidence of DNA damage, according to a study published 26 April in the Journal of Autism and Developmental Disorders.
Autism is diagnosed based on the severity and variety of its symptoms. This makes it very difficult to diagnose and easy to confuse with other disorders, such as language delay and intellectual disability, cautions Isabelle Rapin.