Individuals with an extra copy of MeCP2, the gene mutated in Rett syndrome, have severe developmental delay accompanied by seizures, respiratory infections, poor motor skills and features of autism, according to two new case studies.
Mice that model Angelman syndrome or have a duplication of the 15q11-13 chromosomal region have aberrant brain levels of the chemical messenger serotonin, according to a study published 16 August in PLoS One.
Emerging technologies and software may help assess the subtle behaviors, such as gaze or social gestures, that go awry in children with autism, researchers said at the Engineering and Autism conference earlier this month.
A comprehensive analysis of large deletions and duplications of DNA bolsters the idea that some cases of developmental delay and autism result from a combination of two damaging hits to the genome, according to research published 12 September in the New England Journal of Medicine.
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.
Traditional prenatal testing cannot distinguish between large disruptive chromosomal duplications and multiple harmless repeats, according to a study published 25 July in the European Journal of Human Genetics.
Children with autism are being incorrectly diagnosed with developmental delay, and Hispanic children with developmental delay are going undiagnosed, according to a study in California.
Studying the well-characterized Williams syndrome could help researchers understand autism and discover new therapeutic targets, says Andreas Meyer-Lindenberg.
Symptoms associated with a deletion of the 15q13.3 chromosomal region could result from the loss of a single gene, CHRNA7, according to a study published 9 July in Clinical Genetics.
Parents of minority children with autism are more likely to report that their children have poor quality of care than are parents of minority children with other developmental disabilities.