‘Gain-of-function’ mutation spawns autism traits
The mutation increases the activity of an autism-linked protein and leads to social difficulties and other behavioral differences in mice.
The mutation increases the activity of an autism-linked protein and leads to social difficulties and other behavioral differences in mice.
This month’s issue of the Null and Noteworthy newsletter breaks down some negative results involving prenatal exposures, an experimental treatment for Angelman syndrome, and the role that age at autism diagnosis plays in subsequent outcomes, and more.
The variants are associated with slight differences in measures of intelligence, income and employment, but the relationship may not be causal.
The discovery could help clinicians diagnose children who carry mutations in the gene, called SCN2A, and gauge their responses to potential therapies.
Triplett gained media attention for his autism later in life, and he became the face of the effort to research the lives of older adults with autism.
The findings may explain why the average age at diagnosis has plateaued at 4 years old.
Minimally verbal autistic preschoolers gained new words and phrases in a head-to-head comparison of two interventions.
Changes to the DSM-5’s diagnostic criteria for autism were meant to add clarity, but they also generated new questions.
Experiments offer clues to why certain mutations are associated with autism in some people and not others.
Autistic toddlers who receive a personalized intervention at about 18 months of age gain more abilities than those who start the therapy nine months later.