Elaine Marchi

TL;DR: Deterioration in the patterns of focal qualitative developmental defects in the brains of autistic subjects reflects multiregional dysregulation of neurogenesis, neuronal migration and maturation in autism, which may contribute to the heterogeneity of the clinical phenotype.

TL;DR: The different spectrum and higher prevalence of developmental neuropathologic findings in the dup(15) cohort than in cases with idiopathic autism may contribute to the high risk of early onset of seizures and sudden death.

TL;DR: The antibodies may have a familial origin but the risk of developing ASD is likely influenced by other mitigating factors since some siblings who had the antibodies were not affected.

TL;DR: It is demonstrated that telomere length can serve as a valid biomarker for the onset of MCI‐DS in this high‐risk population and adds to accumulating evidence of the value of telomeres length, as an early biomarker of AD progression in adults with Down syndrome.

TL;DR: In this article , the authors report 25 unpublished individuals from 22 families with molecularly confirmed diagnoses of KBG syndrome, a rare syndrome associated with craniofacial, intellectual, and neurobehavioral anomalies.