Crowdsourcing allows volunteers to become citizen scientists, archivists and journalists. Ventures such as the Interactive Autism Network can harness their power to advance autism research, say Paul Law and Cheryl Cohen.
A new mouse model provides the first molecular link between the known autism risk gene PTEN and the mitochondrial dysfunction sometimes seen in the disorder. Mice with half the normal amount of PTEN protein in their brains have social deficits reminiscent of autism and faulty mitochondria, according to a study published 10 August in PLoS One.
Mutations in the CDKL5 gene lead to developmental delay starting at birth, seizures that begin before 3 months of age, and subtly atypical facial features, according to a study published 8 August in the European Journal of Human Genetics.
Characteristic symptoms of Phelan-McDermid syndrome — a disorder caused by the loss of the 22q13.3 chromosomal region — may include bipolar disorder and a sudden loss of skills during adulthood, according a study published in June in Molecular Syndromology.
Individuals with either of two rare forms of epilepsy have duplications or deletions that encompass genes implicated in autism and language impairment, according to a study published 27 June in Epilepsia.
Several scientists at the Phelan-McDermid Syndrome Foundation’s annual meeting focused on the wide range of symptoms, including a sudden loss of motor and cognitive skills, that seem to crop up in adults with the disorder.
Childhood disintegrative disorder may be the longest-lived of childhood psychiatric diagnoses. Austrian educator Theodor Heller described it more than 100 years ago, while working in a school for disabled children he had founded with his father. That reign may soon come to an end.
The action of certain maternal antibodies on the fetal brain may underlie the large brain size seen in some children with autism, according to preliminary findings from both monkey and human studies presented at a conference in Boston last week.