Medicina
-
In more than half of neurodevelopmental disorders, a genetic etiology is demonstrated. The detection of these pathogenic variants has a huge impact on the course of the disease of these patients. ⋯ Even in the diagnostic guides of the different scientific societies, their algorithms are outdated by the quick incorporation of new techniques. This article reviews the current techniques as well as the latest advances in them that are being incorporated into clinical practice.
-
This review focuses on four interrelated teams and research lines that form the basis for new research on the pathogenesis of autism spectrum disorder (ASD) at the Marcus Autism Center, in Atlanta (US). These themes probe typical social behavior and brain development from birth, and disruptions thereof in babies later diagnosed with ASD. ⋯ This science is opening a world of opportunities to optimize children's outcomes despite the genetic liabilities that they are born with. It provides the scientific grounding for new community-viable solutions for increasing access to early interventions using treatments that scaffold and strengthen infant-caregiver interactions, which is the platform for early brain development.
-
Individuals with autistic spectrum disorder are often described as having communication, social, emotional, nd behavioral impairments. They are often isolated and passive, with few opportunities for positive and constructive interaction with the outside world. Moreover, they may exhibit withdrawn, stereotyped and disruptive behaviors. ⋯ Overall, 8 studies were selected, with 132 participants using 4 technological systems. Finally, the technological, clinical, psychological, and rehabilitative implications of the findings are discussed. Practical guidelines within this topic area are outlined as future research perspectives.
-
Attention-deficit/hyperactivity disorder (ADHD) has been the focus of magnetic resonance imaging studies for more than 30 years, with more than 2200 articles listed in PubMed. Nevertheless, the brain substrates of ADHD remain poorly understood. This reflects the crisis of replicability across nearly all scientific endeavors, deriving from factors such as small sample sizes combined with a proliferation in analytical approaches, yielding high rates of false positive results. ⋯ Adolescent Behavior & Cognitive Developm ent Study (ABCD). Both embrace the culture of open science, and are beginning to yield credible findings, despite being limited initially to cross-sectional analyses. As the field continues to mature, these and other ongoing longitudinal large-scale studies are poised to transform our understanding of the pathophysiology of ADHD to bring closer the day when neuroimaging can contribute to clinical utility.